Mutagenetix > Incidental Mutation

Incidental Mutation 'R9515:Pkd1l3'

718484

Institutional Source

Beutler Lab

Gene Symbol

Pkd1l3

Ensembl Gene

ENSMUSG00000048827

Gene Name

polycystic kidney disease 1 like 3

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9515 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

110340828-110399305 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110395849 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 2083 (V2083A)

Ref Sequence

ENSEMBL: ENSMUSP00000104865 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034164] [ENSMUST00000057344] [ENSMUST00000109242] [ENSMUST00000212537]

AlphaFold

Q2EG98

Predicted Effect

probably benign
Transcript: ENSMUST00000034164

SMART Domains

Protein: ENSMUSP00000034164
Gene: ENSMUSG00000031729

Domain	Start	End	E-Value	Type
Pfam:Ist1	12	176	4.4e-65	PFAM
low complexity region	207	226	N/A	INTRINSIC
low complexity region	229	239	N/A	INTRINSIC
internal_repeat_1	240	278	8.47e-5	PROSPERO
internal_repeat_1	294	332	8.47e-5	PROSPERO
low complexity region	333	343	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000057344
AA Change: V2073A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000051512
Gene: ENSMUSG00000048827
AA Change: V2073A

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
CLECT	26	142	4.25e-1	SMART
internal_repeat_2	143	245	2.25e-8	PROSPERO
low complexity region	246	270	N/A	INTRINSIC
low complexity region	272	296	N/A	INTRINSIC
low complexity region	298	322	N/A	INTRINSIC
low complexity region	324	348	N/A	INTRINSIC
internal_repeat_1	349	431	1.22e-8	PROSPERO
internal_repeat_2	378	466	2.25e-8	PROSPERO
internal_repeat_1	518	731	1.22e-8	PROSPERO
GPS	1007	1056	3.62e-5	SMART
transmembrane domain	1075	1094	N/A	INTRINSIC
LH2	1119	1238	1.01e-9	SMART
transmembrane domain	1282	1304	N/A	INTRINSIC
transmembrane domain	1319	1341	N/A	INTRINSIC
low complexity region	1398	1408	N/A	INTRINSIC
low complexity region	1451	1460	N/A	INTRINSIC
low complexity region	1484	1497	N/A	INTRINSIC
transmembrane domain	1534	1556	N/A	INTRINSIC
transmembrane domain	1576	1595	N/A	INTRINSIC
Pfam:PKD_channel	1695	2110	2.8e-86	PFAM
Pfam:Ion_trans	1858	2114	2.9e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000109242
AA Change: V2083A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000104865
Gene: ENSMUSG00000048827
AA Change: V2083A

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
CLECT	26	142	4.25e-1	SMART
internal_repeat_2	143	245	2.63e-8	PROSPERO
low complexity region	246	270	N/A	INTRINSIC
low complexity region	272	296	N/A	INTRINSIC
low complexity region	298	322	N/A	INTRINSIC
low complexity region	324	348	N/A	INTRINSIC
internal_repeat_1	349	440	3.96e-14	PROSPERO
internal_repeat_2	378	466	2.63e-8	PROSPERO
internal_repeat_1	518	724	3.96e-14	PROSPERO
GPS	1017	1066	3.62e-5	SMART
transmembrane domain	1085	1104	N/A	INTRINSIC
LH2	1129	1248	1.01e-9	SMART
transmembrane domain	1292	1314	N/A	INTRINSIC
transmembrane domain	1329	1351	N/A	INTRINSIC
low complexity region	1408	1418	N/A	INTRINSIC
low complexity region	1461	1470	N/A	INTRINSIC
low complexity region	1494	1507	N/A	INTRINSIC
transmembrane domain	1544	1566	N/A	INTRINSIC
transmembrane domain	1586	1605	N/A	INTRINSIC
Pfam:PKD_channel	1705	2120	1.3e-86	PFAM
Pfam:Ion_trans	1868	2124	4.3e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000212537
AA Change: V2073A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores.[provided by RefSeq, Apr 2009]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and grossly normal and exhibit normal taste responsiveness in various behavioral and electrophysiological tests of taste function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Aamdc	A	G	7: 97,224,808 (GRCm39)	V18A	probably benign	Het
Adam12	T	A	7: 133,509,373 (GRCm39)	I796F	probably benign	Het
Adcy7	T	A	8: 89,037,646 (GRCm39)	V238E	possibly damaging	Het
Adgrv1	G	A	13: 81,691,497 (GRCm39)	H1697Y	probably damaging	Het
Adrb1	A	G	19: 56,711,825 (GRCm39)	D341G	probably benign	Het
Akap13	T	C	7: 75,354,275 (GRCm39)	Y80H	probably benign	Het
Akap9	C	T	5: 4,105,709 (GRCm39)	L2927F	probably damaging	Het
Alox8	T	A	11: 69,075,950 (GRCm39)	D667V	probably damaging	Het
Arhgap30	A	G	1: 171,236,002 (GRCm39)	E792G	probably benign	Het
Arhgef16	A	G	4: 154,365,432 (GRCm39)	V561A	possibly damaging	Het
Bcap29	A	T	12: 31,676,756 (GRCm39)	Y105N	probably damaging	Het
Best2	T	A	8: 85,740,147 (GRCm39)	T6S		Het
Bfsp2	C	A	9: 103,357,251 (GRCm39)	V59L	possibly damaging	Het
Brd3	T	A	2: 27,349,815 (GRCm39)	D246V		Het
Btnl1	T	A	17: 34,600,118 (GRCm39)	V207E	probably benign	Het
Ccdc122	T	A	14: 77,329,408 (GRCm39)	Y154N		Het
Cfap43	A	G	19: 47,773,814 (GRCm39)	Y656H	probably damaging	Het
Clca3a2	A	T	3: 144,508,808 (GRCm39)	Y670*	probably null	Het
Coprs	T	C	8: 13,935,081 (GRCm39)	Y158C	probably damaging	Het
Desi2	T	G	1: 178,084,170 (GRCm39)	M106R	unknown	Het
Dnaaf3	T	C	7: 4,531,100 (GRCm39)	E111G	probably damaging	Het
Epha10	T	A	4: 124,775,704 (GRCm39)	F13I	probably benign	Het
Fam193a	T	A	5: 34,615,371 (GRCm39)	F813L	possibly damaging	Het
Fbn1	C	A	2: 125,207,551 (GRCm39)	A981S	probably benign	Het
Gga2	T	A	7: 121,611,448 (GRCm39)	T37S	probably damaging	Het
Glra3	T	A	8: 56,578,299 (GRCm39)	F452Y	probably damaging	Het
Gm10338	T	A	14: 19,280,438 (GRCm39)	N96I	probably damaging	Het
Gpd2	A	T	2: 57,195,866 (GRCm39)	E149V	possibly damaging	Het
Gpr137c	T	G	14: 45,516,229 (GRCm39)	L321*	probably null	Het
Gsdmc2	T	C	15: 63,702,678 (GRCm39)	I196M	probably benign	Het
Habp2	A	G	19: 56,295,253 (GRCm39)	D48G	probably benign	Het
Hdc	G	T	2: 126,458,149 (GRCm39)	P58T	probably damaging	Het
Heatr5a	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	12: 51,934,702 (GRCm39)		probably benign	Het
Hnrnpr	G	T	4: 136,063,615 (GRCm39)	V342F	probably damaging	Het
Hyal6	T	A	6: 24,734,929 (GRCm39)	Y287*	probably null	Het
Igsf8	T	C	1: 172,146,525 (GRCm39)	Y571H		Het
Kalrn	A	G	16: 33,854,864 (GRCm39)	S1999P	probably damaging	Het
Lama2	T	A	10: 26,877,170 (GRCm39)	N2672I	probably benign	Het
Lrrc7	T	C	3: 157,867,105 (GRCm39)	R879G	probably damaging	Het
Lrwd1	T	G	5: 136,160,413 (GRCm39)	H307P	probably benign	Het
Mau2	T	C	8: 70,480,153 (GRCm39)	Y318C	probably damaging	Het
Med13	T	C	11: 86,199,727 (GRCm39)	Q660R	probably benign	Het
Mepce	G	C	5: 137,783,759 (GRCm39)	P189R	probably damaging	Het
Mical3	T	A	6: 121,001,758 (GRCm39)	N578I	probably damaging	Het
Mug1	T	C	6: 121,861,635 (GRCm39)	S1366P	probably damaging	Het
Nol11	A	T	11: 107,064,278 (GRCm39)	D511E	possibly damaging	Het
Obscn	T	A	11: 58,994,340 (GRCm39)	H1514L	probably benign	Het
Onecut3	C	A	10: 80,331,887 (GRCm39)	S349*	probably null	Het
Or2l13b	C	T	16: 19,349,026 (GRCm39)	A215T	probably benign	Het
Or4f57	A	G	2: 111,790,584 (GRCm39)	V278A	possibly damaging	Het
Or5ap2b-ps1	A	T	2: 85,693,922 (GRCm39)	I56F	probably damaging	Het
Or5b110-ps1	G	A	19: 13,259,558 (GRCm39)	T288I	unknown	Het
Or7e169	A	G	9: 19,757,816 (GRCm39)	L33P	possibly damaging	Het
Or7g34	T	C	9: 19,478,396 (GRCm39)	I95V	possibly damaging	Het
Or8g18	T	C	9: 39,149,625 (GRCm39)	T32A	probably benign	Het
Patl2	C	T	2: 121,955,374 (GRCm39)	G297E	probably benign	Het
Pdlim5	G	A	3: 142,010,111 (GRCm39)	T168M	probably damaging	Het
Pdzd2	A	C	15: 12,374,621 (GRCm39)	L1838R	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pkhd1	T	A	1: 20,637,741 (GRCm39)	Y348F	probably damaging	Het
Plekhg5	T	A	4: 152,198,826 (GRCm39)	S1005T	probably benign	Het
Ppp4r1	T	A	17: 66,142,073 (GRCm39)	N709K	probably null	Het
Pramel32	T	A	4: 88,546,219 (GRCm39)	L374F	possibly damaging	Het
Pramel40	G	A	5: 94,464,924 (GRCm39)	V437I	probably benign	Het
Reln	T	C	5: 22,125,508 (GRCm39)	D2725G	possibly damaging	Het
Rnf41	T	A	10: 128,274,299 (GRCm39)	I317K	probably benign	Het
Rxfp2	T	C	5: 149,979,444 (GRCm39)	V268A	possibly damaging	Het
Sema5a	A	G	15: 32,679,373 (GRCm39)	H884R	probably damaging	Het
Serpinh1	A	T	7: 98,996,484 (GRCm39)	M236K	probably damaging	Het
Sh3pxd2a	A	G	19: 47,255,610 (GRCm39)	L1064P	probably damaging	Het
Skint6	T	C	4: 112,715,375 (GRCm39)	H947R	probably benign	Het
Slc12a3	T	A	8: 95,083,658 (GRCm39)	M895K	possibly damaging	Het
Slc22a3	C	A	17: 12,726,057 (GRCm39)	R52L	probably damaging	Het
Slc38a1	A	G	15: 96,487,965 (GRCm39)	L180P	probably damaging	Het
Slc4a3	T	C	1: 75,533,612 (GRCm39)	V1078A	probably damaging	Het
Snx30	T	A	4: 59,879,241 (GRCm39)	V160E	probably damaging	Het
Spata18	A	T	5: 73,829,840 (GRCm39)	I332F		Het
Stard9	C	G	2: 120,534,564 (GRCm39)	P3607R	probably damaging	Het
Svep1	T	A	4: 58,084,144 (GRCm39)	Y1876F	possibly damaging	Het
Sytl1	A	G	4: 132,986,291 (GRCm39)		probably null	Het
Tacc2	A	C	7: 130,366,041 (GRCm39)	K567Q	probably damaging	Het
Tfr2	A	G	5: 137,575,769 (GRCm39)	D295G	possibly damaging	Het
Tmem53	C	A	4: 117,125,122 (GRCm39)	H78Q	probably benign	Het
Tnnt2	G	A	1: 135,768,640 (GRCm39)	E10K	unknown	Het
Top2a	T	A	11: 98,902,970 (GRCm39)	I406F	probably damaging	Het
Ttc1	C	A	11: 43,621,305 (GRCm39)	R292I		Het
Ubr1	T	G	2: 120,703,627 (GRCm39)	T1568P	probably damaging	Het
Usp25	T	G	16: 76,852,076 (GRCm39)	V197G	probably damaging	Het
Usp9y	A	T	Y: 1,432,188 (GRCm39)	N432K	probably benign	Het
Vmn2r26	T	A	6: 124,038,137 (GRCm39)	Y571N	probably damaging	Het
Zfp7	T	C	15: 76,775,484 (GRCm39)	S509P	probably damaging	Het

Other mutations in Pkd1l3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Pkd1l3	APN	8	110,356,869 (GRCm39)	missense	possibly damaging	0.53
IGL00562:Pkd1l3	APN	8	110,382,779 (GRCm39)	missense	possibly damaging	0.53
IGL00563:Pkd1l3	APN	8	110,382,779 (GRCm39)	missense	possibly damaging	0.53
IGL01061:Pkd1l3	APN	8	110,365,338 (GRCm39)	missense	probably damaging	1.00
IGL01105:Pkd1l3	APN	8	110,388,873 (GRCm39)	missense	possibly damaging	0.81
IGL01574:Pkd1l3	APN	8	110,350,403 (GRCm39)	missense	probably benign	0.01
IGL01597:Pkd1l3	APN	8	110,350,153 (GRCm39)	missense	probably benign	0.33
IGL01634:Pkd1l3	APN	8	110,394,157 (GRCm39)	critical splice acceptor site	probably null
IGL01645:Pkd1l3	APN	8	110,361,934 (GRCm39)	missense	possibly damaging	0.59
IGL01770:Pkd1l3	APN	8	110,375,134 (GRCm39)	critical splice acceptor site	probably null
IGL01837:Pkd1l3	APN	8	110,356,798 (GRCm39)	missense	possibly damaging	0.85
IGL01862:Pkd1l3	APN	8	110,357,908 (GRCm39)	critical splice acceptor site	probably null
IGL01938:Pkd1l3	APN	8	110,361,933 (GRCm39)	missense	probably benign	0.00
IGL01990:Pkd1l3	APN	8	110,387,438 (GRCm39)	missense	probably damaging	1.00
IGL02056:Pkd1l3	APN	8	110,358,010 (GRCm39)	missense	probably benign	0.14
IGL02069:Pkd1l3	APN	8	110,362,012 (GRCm39)	missense	probably damaging	1.00
IGL02086:Pkd1l3	APN	8	110,392,217 (GRCm39)	missense	probably damaging	1.00
IGL02152:Pkd1l3	APN	8	110,395,924 (GRCm39)	missense	probably damaging	1.00
IGL02209:Pkd1l3	APN	8	110,365,296 (GRCm39)	missense	probably damaging	1.00
IGL02213:Pkd1l3	APN	8	110,357,977 (GRCm39)	missense	probably damaging	1.00
IGL02218:Pkd1l3	APN	8	110,387,434 (GRCm39)	missense	possibly damaging	0.92
IGL02225:Pkd1l3	APN	8	110,365,310 (GRCm39)	missense	probably damaging	1.00
IGL02252:Pkd1l3	APN	8	110,357,708 (GRCm39)	missense	possibly damaging	0.92
IGL02351:Pkd1l3	APN	8	110,373,129 (GRCm39)	unclassified	probably benign
IGL02358:Pkd1l3	APN	8	110,373,129 (GRCm39)	unclassified	probably benign
IGL02369:Pkd1l3	APN	8	110,342,977 (GRCm39)	missense	unknown
IGL02481:Pkd1l3	APN	8	110,341,414 (GRCm39)	missense	unknown
IGL02505:Pkd1l3	APN	8	110,359,848 (GRCm39)	missense	probably damaging	1.00
IGL02506:Pkd1l3	APN	8	110,374,132 (GRCm39)	missense	probably damaging	1.00
IGL02535:Pkd1l3	APN	8	110,367,522 (GRCm39)	nonsense	probably null
IGL02715:Pkd1l3	APN	8	110,353,458 (GRCm39)	missense	probably damaging	0.96
IGL02979:Pkd1l3	APN	8	110,388,736 (GRCm39)	splice site	probably benign
IGL03059:Pkd1l3	APN	8	110,374,999 (GRCm39)	missense	probably damaging	1.00
IGL03090:Pkd1l3	APN	8	110,382,165 (GRCm39)	nonsense	probably null
IGL03206:Pkd1l3	APN	8	110,350,345 (GRCm39)	missense	probably benign	0.18
IGL03328:Pkd1l3	APN	8	110,388,738 (GRCm39)	splice site	probably benign
BB006:Pkd1l3	UTSW	8	110,350,827 (GRCm39)	small deletion	probably benign
PIT4453001:Pkd1l3	UTSW	8	110,387,433 (GRCm39)	missense	probably damaging	0.99
PIT4468001:Pkd1l3	UTSW	8	110,391,131 (GRCm39)	missense	possibly damaging	0.85
R0001:Pkd1l3	UTSW	8	110,355,265 (GRCm39)	splice site	probably benign
R0066:Pkd1l3	UTSW	8	110,347,103 (GRCm39)	missense	unknown
R0066:Pkd1l3	UTSW	8	110,347,103 (GRCm39)	missense	unknown
R0233:Pkd1l3	UTSW	8	110,377,412 (GRCm39)	nonsense	probably null
R0233:Pkd1l3	UTSW	8	110,377,412 (GRCm39)	nonsense	probably null
R0255:Pkd1l3	UTSW	8	110,365,386 (GRCm39)	missense	probably damaging	1.00
R0288:Pkd1l3	UTSW	8	110,373,131 (GRCm39)	splice site	probably null
R0311:Pkd1l3	UTSW	8	110,350,295 (GRCm39)	missense	probably benign	0.33
R0311:Pkd1l3	UTSW	8	110,350,281 (GRCm39)	missense	possibly damaging	0.70
R0403:Pkd1l3	UTSW	8	110,350,295 (GRCm39)	missense	probably benign	0.33
R0403:Pkd1l3	UTSW	8	110,350,281 (GRCm39)	missense	possibly damaging	0.70
R0441:Pkd1l3	UTSW	8	110,350,281 (GRCm39)	missense	possibly damaging	0.70
R0446:Pkd1l3	UTSW	8	110,350,281 (GRCm39)	missense	possibly damaging	0.70
R0465:Pkd1l3	UTSW	8	110,350,295 (GRCm39)	missense	probably benign	0.33
R0465:Pkd1l3	UTSW	8	110,350,281 (GRCm39)	missense	possibly damaging	0.70
R0466:Pkd1l3	UTSW	8	110,350,281 (GRCm39)	missense	possibly damaging	0.70
R0467:Pkd1l3	UTSW	8	110,350,281 (GRCm39)	missense	possibly damaging	0.70
R0468:Pkd1l3	UTSW	8	110,350,281 (GRCm39)	missense	possibly damaging	0.70
R0488:Pkd1l3	UTSW	8	110,350,295 (GRCm39)	missense	probably benign	0.33
R0488:Pkd1l3	UTSW	8	110,350,281 (GRCm39)	missense	possibly damaging	0.70
R0515:Pkd1l3	UTSW	8	110,350,281 (GRCm39)	missense	possibly damaging	0.70
R0534:Pkd1l3	UTSW	8	110,350,281 (GRCm39)	missense	possibly damaging	0.70
R0650:Pkd1l3	UTSW	8	110,350,281 (GRCm39)	missense	possibly damaging	0.70
R0689:Pkd1l3	UTSW	8	110,350,281 (GRCm39)	missense	possibly damaging	0.70
R1422:Pkd1l3	UTSW	8	110,348,340 (GRCm39)	missense	unknown
R1464:Pkd1l3	UTSW	8	110,363,059 (GRCm39)	splice site	probably benign
R1467:Pkd1l3	UTSW	8	110,343,000 (GRCm39)	missense	unknown
R1467:Pkd1l3	UTSW	8	110,343,000 (GRCm39)	missense	unknown
R1469:Pkd1l3	UTSW	8	110,373,585 (GRCm39)	missense	possibly damaging	0.72
R1469:Pkd1l3	UTSW	8	110,373,585 (GRCm39)	missense	possibly damaging	0.72
R1509:Pkd1l3	UTSW	8	110,367,402 (GRCm39)	missense	probably damaging	0.99
R1561:Pkd1l3	UTSW	8	110,341,445 (GRCm39)	missense	unknown
R1574:Pkd1l3	UTSW	8	110,341,445 (GRCm39)	missense	unknown
R1599:Pkd1l3	UTSW	8	110,363,016 (GRCm39)	missense	probably benign	0.01
R1688:Pkd1l3	UTSW	8	110,350,450 (GRCm39)	missense	probably benign	0.18
R1792:Pkd1l3	UTSW	8	110,359,237 (GRCm39)	missense	probably damaging	1.00
R1818:Pkd1l3	UTSW	8	110,375,038 (GRCm39)	missense	probably benign	0.03
R1896:Pkd1l3	UTSW	8	110,350,831 (GRCm39)	missense	possibly damaging	0.92
R2105:Pkd1l3	UTSW	8	110,374,205 (GRCm39)	nonsense	probably null
R2185:Pkd1l3	UTSW	8	110,359,827 (GRCm39)	missense	possibly damaging	0.95
R2192:Pkd1l3	UTSW	8	110,347,156 (GRCm39)	missense	unknown
R2260:Pkd1l3	UTSW	8	110,350,268 (GRCm39)	missense	probably benign	0.18
R2363:Pkd1l3	UTSW	8	110,355,341 (GRCm39)	missense	probably benign	0.01
R2418:Pkd1l3	UTSW	8	110,397,353 (GRCm39)	makesense	probably null
R2435:Pkd1l3	UTSW	8	110,377,334 (GRCm39)	missense	probably benign	0.07
R2443:Pkd1l3	UTSW	8	110,350,447 (GRCm39)	missense	probably benign	0.18
R2850:Pkd1l3	UTSW	8	110,350,622 (GRCm39)	missense	possibly damaging	0.92
R2910:Pkd1l3	UTSW	8	110,394,268 (GRCm39)	splice site	probably benign
R3755:Pkd1l3	UTSW	8	110,359,171 (GRCm39)	missense	probably damaging	1.00
R3791:Pkd1l3	UTSW	8	110,362,949 (GRCm39)	missense	probably damaging	0.99
R3905:Pkd1l3	UTSW	8	110,373,511 (GRCm39)	missense	probably benign	0.02
R4027:Pkd1l3	UTSW	8	110,350,603 (GRCm39)	missense	possibly damaging	0.68
R4028:Pkd1l3	UTSW	8	110,350,603 (GRCm39)	missense	possibly damaging	0.68
R4029:Pkd1l3	UTSW	8	110,350,603 (GRCm39)	missense	possibly damaging	0.68
R4274:Pkd1l3	UTSW	8	110,350,751 (GRCm39)	missense	possibly damaging	0.92
R4461:Pkd1l3	UTSW	8	110,359,345 (GRCm39)	splice site	probably null
R4893:Pkd1l3	UTSW	8	110,365,026 (GRCm39)	missense	probably benign	0.15
R4907:Pkd1l3	UTSW	8	110,367,475 (GRCm39)	missense	probably damaging	0.99
R5037:Pkd1l3	UTSW	8	110,392,268 (GRCm39)	missense	probably damaging	1.00
R5045:Pkd1l3	UTSW	8	110,349,787 (GRCm39)	missense	unknown
R5207:Pkd1l3	UTSW	8	110,359,823 (GRCm39)	missense	probably damaging	1.00
R5307:Pkd1l3	UTSW	8	110,367,424 (GRCm39)	missense	probably damaging	1.00
R5408:Pkd1l3	UTSW	8	110,393,684 (GRCm39)	missense	probably damaging	1.00
R5595:Pkd1l3	UTSW	8	110,382,152 (GRCm39)	missense	probably damaging	1.00
R5615:Pkd1l3	UTSW	8	110,356,842 (GRCm39)	missense	probably benign
R5623:Pkd1l3	UTSW	8	110,350,351 (GRCm39)	missense	possibly damaging	0.53
R5896:Pkd1l3	UTSW	8	110,353,468 (GRCm39)	missense	probably damaging	1.00
R6101:Pkd1l3	UTSW	8	110,367,478 (GRCm39)	missense	probably damaging	1.00
R6105:Pkd1l3	UTSW	8	110,367,478 (GRCm39)	missense	probably damaging	1.00
R6170:Pkd1l3	UTSW	8	110,349,811 (GRCm39)	missense	unknown
R6330:Pkd1l3	UTSW	8	110,373,541 (GRCm39)	missense	probably benign	0.00
R6346:Pkd1l3	UTSW	8	110,358,016 (GRCm39)	missense	probably damaging	0.98
R6395:Pkd1l3	UTSW	8	110,350,595 (GRCm39)	missense	probably benign	0.20
R6475:Pkd1l3	UTSW	8	110,349,844 (GRCm39)	missense	unknown
R6480:Pkd1l3	UTSW	8	110,365,019 (GRCm39)	nonsense	probably null
R6519:Pkd1l3	UTSW	8	110,355,404 (GRCm39)	missense	probably benign
R6654:Pkd1l3	UTSW	8	110,350,915 (GRCm39)	missense	probably benign	0.23
R6717:Pkd1l3	UTSW	8	110,341,401 (GRCm39)	missense	unknown
R6733:Pkd1l3	UTSW	8	110,375,126 (GRCm39)	splice site	probably null
R6753:Pkd1l3	UTSW	8	110,351,081 (GRCm39)	missense	probably damaging	1.00
R6777:Pkd1l3	UTSW	8	110,353,446 (GRCm39)	missense	probably benign	0.00
R6901:Pkd1l3	UTSW	8	110,341,246 (GRCm39)	missense	unknown
R6975:Pkd1l3	UTSW	8	110,387,539 (GRCm39)	missense	possibly damaging	0.73
R6991:Pkd1l3	UTSW	8	110,350,827 (GRCm39)	small deletion	probably benign
R7018:Pkd1l3	UTSW	8	110,350,827 (GRCm39)	small deletion	probably benign
R7083:Pkd1l3	UTSW	8	110,350,827 (GRCm39)	small deletion	probably benign
R7139:Pkd1l3	UTSW	8	110,362,972 (GRCm39)	missense	probably damaging	0.96
R7153:Pkd1l3	UTSW	8	110,350,827 (GRCm39)	small deletion	probably benign
R7235:Pkd1l3	UTSW	8	110,350,827 (GRCm39)	small deletion	probably benign
R7238:Pkd1l3	UTSW	8	110,350,827 (GRCm39)	small deletion	probably benign
R7252:Pkd1l3	UTSW	8	110,387,330 (GRCm39)	missense	probably benign	0.01
R7296:Pkd1l3	UTSW	8	110,350,827 (GRCm39)	small deletion	probably benign
R7309:Pkd1l3	UTSW	8	110,374,893 (GRCm39)	splice site	probably null
R7362:Pkd1l3	UTSW	8	110,350,827 (GRCm39)	small deletion	probably benign
R7462:Pkd1l3	UTSW	8	110,355,409 (GRCm39)	missense	probably benign	0.00
R7470:Pkd1l3	UTSW	8	110,365,008 (GRCm39)	missense	probably benign	0.09
R7478:Pkd1l3	UTSW	8	110,359,947 (GRCm39)	missense	probably damaging	1.00
R7483:Pkd1l3	UTSW	8	110,350,827 (GRCm39)	small deletion	probably benign
R7516:Pkd1l3	UTSW	8	110,361,861 (GRCm39)	missense	probably damaging	1.00
R7553:Pkd1l3	UTSW	8	110,350,827 (GRCm39)	small deletion	probably benign
R7559:Pkd1l3	UTSW	8	110,351,072 (GRCm39)	missense	probably benign	0.03
R7650:Pkd1l3	UTSW	8	110,399,217 (GRCm39)	missense	probably benign	0.23
R7654:Pkd1l3	UTSW	8	110,365,049 (GRCm39)	missense	probably damaging	1.00
R7742:Pkd1l3	UTSW	8	110,341,204 (GRCm39)	missense	unknown
R7749:Pkd1l3	UTSW	8	110,350,827 (GRCm39)	small deletion	probably benign
R7751:Pkd1l3	UTSW	8	110,350,827 (GRCm39)	small deletion	probably benign
R7755:Pkd1l3	UTSW	8	110,356,798 (GRCm39)	missense	possibly damaging	0.85
R7816:Pkd1l3	UTSW	8	110,350,827 (GRCm39)	small deletion	probably benign
R7831:Pkd1l3	UTSW	8	110,357,990 (GRCm39)	missense	possibly damaging	0.47
R7835:Pkd1l3	UTSW	8	110,350,827 (GRCm39)	small deletion	probably benign
R7849:Pkd1l3	UTSW	8	110,350,420 (GRCm39)	small deletion	probably benign
R7917:Pkd1l3	UTSW	8	110,350,827 (GRCm39)	small deletion	probably benign
R7929:Pkd1l3	UTSW	8	110,350,827 (GRCm39)	small deletion	probably benign
R7952:Pkd1l3	UTSW	8	110,350,827 (GRCm39)	small deletion	probably benign
R8054:Pkd1l3	UTSW	8	110,373,008 (GRCm39)	missense	probably damaging	1.00
R8098:Pkd1l3	UTSW	8	110,350,827 (GRCm39)	small deletion	probably benign
R8099:Pkd1l3	UTSW	8	110,350,827 (GRCm39)	small deletion	probably benign
R8276:Pkd1l3	UTSW	8	110,397,353 (GRCm39)	makesense	probably null
R8352:Pkd1l3	UTSW	8	110,350,827 (GRCm39)	small deletion	probably benign
R8376:Pkd1l3	UTSW	8	110,350,420 (GRCm39)	small deletion	probably benign
R8377:Pkd1l3	UTSW	8	110,361,982 (GRCm39)	missense	probably benign	0.08
R8398:Pkd1l3	UTSW	8	110,350,520 (GRCm39)	missense	possibly damaging	0.93
R8399:Pkd1l3	UTSW	8	110,350,520 (GRCm39)	missense	possibly damaging	0.93
R8400:Pkd1l3	UTSW	8	110,350,520 (GRCm39)	missense	possibly damaging	0.93
R8412:Pkd1l3	UTSW	8	110,360,022 (GRCm39)	missense	possibly damaging	0.85
R8530:Pkd1l3	UTSW	8	110,350,827 (GRCm39)	small deletion	probably benign
R8539:Pkd1l3	UTSW	8	110,362,919 (GRCm39)	missense	probably damaging	1.00
R8546:Pkd1l3	UTSW	8	110,393,615 (GRCm39)	missense	possibly damaging	0.52
R8558:Pkd1l3	UTSW	8	110,362,012 (GRCm39)	missense	probably damaging	1.00
R8719:Pkd1l3	UTSW	8	110,341,255 (GRCm39)	missense	unknown
R8769:Pkd1l3	UTSW	8	110,350,827 (GRCm39)	small deletion	probably benign
R8797:Pkd1l3	UTSW	8	110,374,946 (GRCm39)	missense	probably benign	0.15
R8840:Pkd1l3	UTSW	8	110,349,842 (GRCm39)	missense	unknown
R8846:Pkd1l3	UTSW	8	110,350,827 (GRCm39)	small deletion	probably benign
R8874:Pkd1l3	UTSW	8	110,350,827 (GRCm39)	small deletion	probably benign
R8893:Pkd1l3	UTSW	8	110,350,827 (GRCm39)	small deletion	probably benign
R8956:Pkd1l3	UTSW	8	110,350,827 (GRCm39)	small deletion	probably benign
R8963:Pkd1l3	UTSW	8	110,350,827 (GRCm39)	small deletion	probably benign
R8968:Pkd1l3	UTSW	8	110,350,420 (GRCm39)	small deletion	probably benign
R9035:Pkd1l3	UTSW	8	110,350,827 (GRCm39)	small deletion	probably benign
R9054:Pkd1l3	UTSW	8	110,392,304 (GRCm39)	missense	probably benign	0.08
R9058:Pkd1l3	UTSW	8	110,350,827 (GRCm39)	small deletion	probably benign
R9119:Pkd1l3	UTSW	8	110,350,827 (GRCm39)	small deletion	probably benign
R9134:Pkd1l3	UTSW	8	110,350,827 (GRCm39)	small deletion	probably benign
R9138:Pkd1l3	UTSW	8	110,350,827 (GRCm39)	small deletion	probably benign
R9158:Pkd1l3	UTSW	8	110,394,207 (GRCm39)	nonsense	probably null
R9180:Pkd1l3	UTSW	8	110,350,827 (GRCm39)	small deletion	probably benign
R9181:Pkd1l3	UTSW	8	110,375,318 (GRCm39)	missense	probably damaging	0.98
R9218:Pkd1l3	UTSW	8	110,382,128 (GRCm39)	nonsense	probably null
R9249:Pkd1l3	UTSW	8	110,350,827 (GRCm39)	small deletion	probably benign
R9269:Pkd1l3	UTSW	8	110,350,827 (GRCm39)	small deletion	probably benign
R9338:Pkd1l3	UTSW	8	110,350,827 (GRCm39)	small deletion	probably benign
R9383:Pkd1l3	UTSW	8	110,350,601 (GRCm39)	small deletion	probably benign
R9396:Pkd1l3	UTSW	8	110,350,827 (GRCm39)	small deletion	probably benign
R9423:Pkd1l3	UTSW	8	110,350,312 (GRCm39)	missense	possibly damaging	0.53
R9514:Pkd1l3	UTSW	8	110,395,849 (GRCm39)	missense	probably damaging	1.00
R9567:Pkd1l3	UTSW	8	110,394,173 (GRCm39)	missense	probably damaging	0.99
R9668:Pkd1l3	UTSW	8	110,350,827 (GRCm39)	small deletion	probably benign
R9684:Pkd1l3	UTSW	8	110,350,827 (GRCm39)	small deletion	probably benign
R9748:Pkd1l3	UTSW	8	110,373,555 (GRCm39)	missense	probably benign	0.00
R9778:Pkd1l3	UTSW	8	110,357,937 (GRCm39)	missense	probably benign	0.00
RF016:Pkd1l3	UTSW	8	110,350,174 (GRCm39)	missense	probably benign	0.18
RF029:Pkd1l3	UTSW	8	110,350,827 (GRCm39)	small deletion	probably benign
X0026:Pkd1l3	UTSW	8	110,341,185 (GRCm39)	missense	probably null
Z1176:Pkd1l3	UTSW	8	110,349,874 (GRCm39)	missense	unknown
Z31818:Pkd1l3	UTSW	8	110,395,924 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGAACCGGGATTTGAATCAC -3'
(R):5'- AGTGTTGGAAGCGTCACTAC -3'

Sequencing Primer
(F):5'- GGGATTTGAATCACGATCCTATTG -3'
(R):5'- TGGAAGCGTCACTACACTTTCCAG -3'

Posted On

2022-07-18