Mutagenetix > Incidental Mutation

Incidental Mutation 'R8797:Pkd1l3'

671312

Institutional Source

Beutler Lab

Gene Symbol

Pkd1l3

Ensembl Gene

ENSMUSG00000048827

Gene Name

polycystic kidney disease 1 like 3

Synonyms

MMRRC Submission

068638-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8797 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110340828-110399305 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110374946 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 1483 (H1483L)

Ref Sequence

ENSEMBL: ENSMUSP00000104865 (fasta)

Gene Model

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

AlphaFold

Q2EG98

Predicted Effect

probably benign
Transcript: ENSMUST00000057344
AA Change: H1473L

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000051512
Gene: ENSMUSG00000048827
AA Change: H1473L

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 benign
Transcript: ENSMUST00000109242
AA Change: H1483L

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000104865
Gene: ENSMUSG00000048827
AA Change: H1483L

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

possibly damaging
Transcript: ENSMUST00000212537
AA Change: H1473L

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

Meta Mutation Damage Score

0.1576

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

100% (50/50)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm5	C	A	7: 119,137,374 (GRCm39)	P397T	probably damaging	Het
Adamts14	C	T	10: 61,106,781 (GRCm39)	R113K	probably benign	Het
Baiap2	G	A	11: 119,897,201 (GRCm39)	V519I	probably benign	Het
Ccna1	C	T	3: 54,953,069 (GRCm39)	A233T	probably benign	Het
Cdon	T	C	9: 35,389,931 (GRCm39)	Y862H	probably damaging	Het
Crygc	C	T	1: 65,111,030 (GRCm39)	A86T	probably benign	Het
Cyb5d2	T	G	11: 72,669,662 (GRCm39)	N232T	probably benign	Het
Dnah14	C	A	1: 181,465,412 (GRCm39)	H1193N	probably benign	Het
Dnah17	T	G	11: 117,992,201 (GRCm39)	E1170A	probably benign	Het
Dnah7b	A	G	1: 46,162,806 (GRCm39)	Y384C	probably damaging	Het
Fat4	G	A	3: 39,053,278 (GRCm39)	V4091I	probably benign	Het
Fbxl12	C	A	9: 20,550,160 (GRCm39)	R165L	possibly damaging	Het
G6pc2	A	G	2: 69,050,441 (GRCm39)	Y22C	probably benign	Het
Gpihbp1	A	T	15: 75,469,828 (GRCm39)	Q181L	possibly damaging	Het
H2bc4	C	T	13: 23,868,552 (GRCm39)	S113L	probably damaging	Het
Hhatl	A	T	9: 121,619,965 (GRCm39)		probably benign	Het
Iars1	C	A	13: 49,841,738 (GRCm39)	S75R	probably benign	Het
Igfn1	T	A	1: 135,902,573 (GRCm39)	I375F	possibly damaging	Het
Itih4	A	G	14: 30,618,529 (GRCm39)	I647V	probably benign	Het
Jmjd1c	T	A	10: 67,060,616 (GRCm39)	C703S	probably benign	Het
L3mbtl2	C	T	15: 81,569,615 (GRCm39)	T619I	possibly damaging	Het
Lct	T	C	1: 128,231,684 (GRCm39)	T722A	possibly damaging	Het
Meioc	C	T	11: 102,567,686 (GRCm39)	Q827*	probably null	Het
Meis2	T	C	2: 115,694,986 (GRCm39)	S386G	probably benign	Het
Mroh8	T	A	2: 157,071,876 (GRCm39)	D543V	probably damaging	Het
Ms4a13	C	T	19: 11,161,200 (GRCm39)	R113H	probably benign	Het
Myrfl	T	C	10: 116,613,325 (GRCm39)	Y826C	probably benign	Het
Nf1	T	C	11: 79,366,711 (GRCm39)		probably benign	Het
Nrg3	A	C	14: 38,093,243 (GRCm39)	L542R	probably benign	Het
Or13j1	T	C	4: 43,706,455 (GRCm39)	T38A	probably damaging	Het
Or2y8	T	A	11: 52,036,340 (GRCm39)	T6S	probably benign	Het
Or6c65	T	A	10: 129,603,674 (GRCm39)	I103K	probably damaging	Het
Pcdh15	A	G	10: 74,419,978 (GRCm39)	N1212S	probably damaging	Het
Pcsk5	G	A	19: 17,443,472 (GRCm39)	T1229I	probably benign	Het
Polr3b	T	A	10: 84,532,879 (GRCm39)	L840*	probably null	Het
Psd4	A	T	2: 24,287,440 (GRCm39)	R457S	probably benign	Het
Relch	T	C	1: 105,678,121 (GRCm39)	S1149P	possibly damaging	Het
Rgs12	A	G	5: 35,186,915 (GRCm39)	S194G		Het
Rps3	A	G	7: 99,132,797 (GRCm39)		probably null	Het
Saxo4	T	C	19: 10,455,602 (GRCm39)	I216V	probably benign	Het
Sgcb	G	T	5: 73,793,036 (GRCm39)	N255K	probably benign	Het
Sla2	A	G	2: 156,717,799 (GRCm39)	Y158H	probably damaging	Het
Sla2	G	A	2: 156,717,823 (GRCm39)	Q150*	probably null	Het
Slc12a2	T	A	18: 58,012,455 (GRCm39)	Y193N	possibly damaging	Het
Supt16	G	T	14: 52,409,960 (GRCm39)	T749K	probably damaging	Het
Uqcrc2	A	G	7: 120,239,500 (GRCm39)	E104G	probably damaging	Het
Vasp	T	C	7: 18,994,563 (GRCm39)	N251S	unknown	Het
Vmn1r72	A	G	7: 11,403,965 (GRCm39)	M161T	probably benign	Het
Zc3h18	T	C	8: 123,134,989 (GRCm39)		probably benign	Het
Zfp981	T	A	4: 146,619,906 (GRCm39)	L20*	probably null	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
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
R9515: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'- GTGCAGAAGCTTGTCTCCATGG -3'
(R):5'- ATTATCTCCTGCTGAGGCCG -3'

Sequencing Primer
(F):5'- CAGAAGCTTGTCTCCATGGGTACTAG -3'
(R):5'- TGCTGAGGCCGGGAGAG -3'

Posted On

2021-04-30