Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4453001:Pkd1l3'

555328

Institutional Source

Beutler Lab

Gene Symbol

Pkd1l3

Ensembl Gene

ENSMUSG00000048827

Gene Name

polycystic kidney disease 1 like 3

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4453001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

109614517-109674386 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 109660801 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1792 (N1792K)

Ref Sequence

ENSEMBL: ENSMUSP00000104865 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000057344
AA Change: N1782K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000051512
Gene: ENSMUSG00000048827
AA Change: N1782K

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: N1792K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104865
Gene: ENSMUSG00000048827
AA Change: N1792K

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: N1782K

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

Coding Region Coverage

1x: 93.3%
3x: 90.9%
10x: 85.6%
20x: 74.1%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	G	3: 122,105,316	I649S	probably damaging	Het
Abcc2	T	A	19: 43,803,782	L334*	probably null	Het
Adam28	A	T	14: 68,634,876	S306T	probably benign	Het
Adam34	T	A	8: 43,651,312	D432V	probably damaging	Het
Adcy7	A	G	8: 88,323,636	Y723C	probably benign	Het
Adgre5	T	A	8: 83,724,460	M713L	probably benign	Het
Aebp2	C	A	6: 140,637,686	C295*	probably null	Het
Amn1	G	T	6: 149,170,859	Q127K	probably benign	Het
Atcay	C	T	10: 81,210,549	V314M	probably damaging	Het
Atp1a1	T	C	3: 101,581,179	E847G	probably benign	Het
Atp2b1	A	G	10: 99,016,978	E1039G	probably benign	Het
Caskin1	A	G	17: 24,499,292	Y292C	probably damaging	Het
Cftr	A	G	6: 18,214,106	T94A	probably damaging	Het
Ciart	T	A	3: 95,880,476	K182M	probably damaging	Het
Col1a2	A	C	6: 4,527,079	S603R	possibly damaging	Het
Cspp1	C	A	1: 10,074,872	S298R	possibly damaging	Het
Cul7	T	A	17: 46,651,820	C126S	probably damaging	Het
Cyp2c55	A	T	19: 39,011,791	I145F	probably damaging	Het
Cypt4	G	C	9: 24,625,474	A87P	probably damaging	Het
Disp2	G	A	2: 118,787,644	V224M	probably benign	Het
Dlgap5	TTC	T	14: 47,401,522		probably null	Het
Dock1	A	G	7: 135,152,300	K1602R	probably benign	Het
Ears2	T	C	7: 122,048,339	I241V	probably benign	Het
Eml6	T	C	11: 29,802,489	T975A	probably damaging	Het
Ephb2	T	C	4: 136,660,810	T660A	probably benign	Het
Fbxw7	G	A	3: 84,965,314	V268M		Het
Gart	A	G	16: 91,636,538	F289S	probably damaging	Het
Gmcl1	G	T	6: 86,704,538	N391K	probably benign	Het
Greb1l	A	C	18: 10,533,031	Q975P	probably damaging	Het
Greb1l	G	T	18: 10,533,032	Q975H	probably benign	Het
Grik5	C	A	7: 25,010,694	R872L	probably damaging	Het
Hmox2	T	A	16: 4,765,057	I218N	probably damaging	Het
Hook1	A	T	4: 96,014,852	D526V	probably damaging	Het
Ifna4	A	T	4: 88,841,954	N32Y	probably damaging	Het
Ighg2b	T	A	12: 113,306,872	N213Y	unknown	Het
Itih4	G	A	14: 30,901,170	V900I	probably benign	Het
Itpr2	A	T	6: 146,373,173	F837Y	probably damaging	Het
Kif3a	T	C	11: 53,579,114	V147A	probably benign	Het
Klra9	T	A	6: 130,191,321		probably benign	Het
Lamp3	G	T	16: 19,673,460	Q345K	probably benign	Het
Ltbp3	G	A	19: 5,757,794	E1188K	probably damaging	Het
Med1	T	A	11: 98,158,417	I518L	probably benign	Het
Mis18bp1	T	C	12: 65,158,673	T242A	probably damaging	Het
Nemp1	T	A	10: 127,696,254	F392Y	probably benign	Het
Obscn	C	A	11: 59,060,976	G3984W	probably damaging	Het
Obscn	T	A	11: 59,069,834	H3217L	possibly damaging	Het
Olfr1157	C	T	2: 87,962,458	V145M	possibly damaging	Het
Olfr1328	A	G	4: 118,934,626	M74T	probably benign	Het
Olfr1532-ps1	C	T	7: 106,914,929	H244Y	probably damaging	Het
Olfr709-ps1	T	C	7: 106,926,842	I206V	probably benign	Het
Olfr71	A	G	4: 43,706,464	Y35H	probably damaging	Het
P4ha1	G	T	10: 59,350,472	A258S	probably benign	Het
Parn	T	C	16: 13,607,281	I423V	probably benign	Het
Pcdh20	C	A	14: 88,467,308	S852I	probably damaging	Het
Pcnx3	A	G	19: 5,672,756		probably null	Het
Pcsk1	A	T	13: 75,112,650	I331F	probably damaging	Het
Pkd1l2	G	T	8: 117,022,022	S1803R	probably benign	Het
Plekhg1	C	A	10: 3,963,469	Q1119K		Het
Prr30	T	A	14: 101,198,935	T64S	probably benign	Het
Rec114	T	C	9: 58,660,370	N111S	probably benign	Het
Reck	G	A	4: 43,895,850	V79I	probably benign	Het
Rexo1	A	G	10: 80,550,397	F276L	probably damaging	Het
Rgs6	T	C	12: 83,091,779	Y296H	probably damaging	Het
Sdk1	A	G	5: 142,212,038	R2149G	probably benign	Het
Slc20a2	C	A	8: 22,535,382	F33L	probably damaging	Het
Spopl	T	A	2: 23,545,449	T25S	probably damaging	Het
Srcap	A	T	7: 127,549,320	I1947F	possibly damaging	Het
Srek1	A	C	13: 103,744,783		probably null	Het
St8sia1	C	T	6: 142,829,252	W200*	probably null	Het
Tas2r106	A	T	6: 131,678,502	F129I	possibly damaging	Het
Tbrg4	A	T	11: 6,620,857	L205Q	probably damaging	Het
Tchh	C	A	3: 93,445,880	R876S	unknown	Het
Thap12	G	T	7: 98,715,038	A138S	probably benign	Het
Tjp1	C	T	7: 65,343,614		probably null	Het
Traf4	G	A	11: 78,161,534	P95L	probably benign	Het
Trappc9	ATCTC	ATCTCTC	15: 73,031,598		probably null	Het
Usp20	G	A	2: 31,017,486	V677M	possibly damaging	Het
Usp50	C	A	2: 126,783,316		probably benign	Het
Vmn1r21	T	C	6: 57,844,322	T46A	probably benign	Het
Vmn2r54	T	A	7: 12,629,742	H408L	probably benign	Het
Zfp266	T	C	9: 20,506,003	T30A	probably benign	Het
Zfp536	T	C	7: 37,479,757	H1141R	probably benign	Het

Other mutations in Pkd1l3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Pkd1l3	APN	8	109630237	missense	possibly damaging	0.53
IGL00562:Pkd1l3	APN	8	109656147	missense	possibly damaging	0.53
IGL00563:Pkd1l3	APN	8	109656147	missense	possibly damaging	0.53
IGL01061:Pkd1l3	APN	8	109638706	missense	probably damaging	1.00
IGL01105:Pkd1l3	APN	8	109662241	missense	possibly damaging	0.81
IGL01574:Pkd1l3	APN	8	109623771	missense	probably benign	0.01
IGL01597:Pkd1l3	APN	8	109623521	missense	probably benign	0.33
IGL01634:Pkd1l3	APN	8	109667525	critical splice acceptor site	probably null
IGL01645:Pkd1l3	APN	8	109635302	missense	possibly damaging	0.59
IGL01770:Pkd1l3	APN	8	109648502	critical splice acceptor site	probably null
IGL01837:Pkd1l3	APN	8	109630166	missense	possibly damaging	0.85
IGL01862:Pkd1l3	APN	8	109631276	critical splice acceptor site	probably null
IGL01938:Pkd1l3	APN	8	109635301	missense	probably benign	0.00
IGL01990:Pkd1l3	APN	8	109660806	missense	probably damaging	1.00
IGL02056:Pkd1l3	APN	8	109631378	missense	probably benign	0.14
IGL02069:Pkd1l3	APN	8	109635380	missense	probably damaging	1.00
IGL02086:Pkd1l3	APN	8	109665585	missense	probably damaging	1.00
IGL02152:Pkd1l3	APN	8	109669292	missense	probably damaging	1.00
IGL02209:Pkd1l3	APN	8	109638664	missense	probably damaging	1.00
IGL02213:Pkd1l3	APN	8	109631345	missense	probably damaging	1.00
IGL02218:Pkd1l3	APN	8	109660802	missense	possibly damaging	0.92
IGL02225:Pkd1l3	APN	8	109638678	missense	probably damaging	1.00
IGL02252:Pkd1l3	APN	8	109631076	missense	possibly damaging	0.92
IGL02351:Pkd1l3	APN	8	109646497	unclassified	probably benign
IGL02358:Pkd1l3	APN	8	109646497	unclassified	probably benign
IGL02369:Pkd1l3	APN	8	109616345	missense	unknown
IGL02481:Pkd1l3	APN	8	109614782	missense	unknown
IGL02505:Pkd1l3	APN	8	109633216	missense	probably damaging	1.00
IGL02506:Pkd1l3	APN	8	109647500	missense	probably damaging	1.00
IGL02535:Pkd1l3	APN	8	109640890	nonsense	probably null
IGL02715:Pkd1l3	APN	8	109626826	missense	probably damaging	0.96
IGL02979:Pkd1l3	APN	8	109662104	splice site	probably benign
IGL03059:Pkd1l3	APN	8	109648367	missense	probably damaging	1.00
IGL03090:Pkd1l3	APN	8	109655533	nonsense	probably null
IGL03206:Pkd1l3	APN	8	109623713	missense	probably benign	0.18
IGL03328:Pkd1l3	APN	8	109662106	splice site	probably benign
PIT4468001:Pkd1l3	UTSW	8	109664499	missense	possibly damaging	0.85
R0001:Pkd1l3	UTSW	8	109628633	splice site	probably benign
R0066:Pkd1l3	UTSW	8	109620471	missense	unknown
R0066:Pkd1l3	UTSW	8	109620471	missense	unknown
R0233:Pkd1l3	UTSW	8	109650780	nonsense	probably null
R0233:Pkd1l3	UTSW	8	109650780	nonsense	probably null
R0255:Pkd1l3	UTSW	8	109638754	missense	probably damaging	1.00
R0288:Pkd1l3	UTSW	8	109646499	splice site	probably null
R0311:Pkd1l3	UTSW	8	109623649	missense	possibly damaging	0.70
R0311:Pkd1l3	UTSW	8	109623663	missense	probably benign	0.33
R0403:Pkd1l3	UTSW	8	109623649	missense	possibly damaging	0.70
R0403:Pkd1l3	UTSW	8	109623663	missense	probably benign	0.33
R0441:Pkd1l3	UTSW	8	109623649	missense	possibly damaging	0.70
R0446:Pkd1l3	UTSW	8	109623649	missense	possibly damaging	0.70
R0465:Pkd1l3	UTSW	8	109623649	missense	possibly damaging	0.70
R0465:Pkd1l3	UTSW	8	109623663	missense	probably benign	0.33
R0466:Pkd1l3	UTSW	8	109623649	missense	possibly damaging	0.70
R0467:Pkd1l3	UTSW	8	109623649	missense	possibly damaging	0.70
R0468:Pkd1l3	UTSW	8	109623649	missense	possibly damaging	0.70
R0488:Pkd1l3	UTSW	8	109623649	missense	possibly damaging	0.70
R0488:Pkd1l3	UTSW	8	109623663	missense	probably benign	0.33
R0515:Pkd1l3	UTSW	8	109623649	missense	possibly damaging	0.70
R0534:Pkd1l3	UTSW	8	109623649	missense	possibly damaging	0.70
R0650:Pkd1l3	UTSW	8	109623649	missense	possibly damaging	0.70
R0689:Pkd1l3	UTSW	8	109623649	missense	possibly damaging	0.70
R1422:Pkd1l3	UTSW	8	109621708	missense	unknown
R1464:Pkd1l3	UTSW	8	109636427	splice site	probably benign
R1467:Pkd1l3	UTSW	8	109616368	missense	unknown
R1467:Pkd1l3	UTSW	8	109616368	missense	unknown
R1469:Pkd1l3	UTSW	8	109646953	missense	possibly damaging	0.72
R1469:Pkd1l3	UTSW	8	109646953	missense	possibly damaging	0.72
R1509:Pkd1l3	UTSW	8	109640770	missense	probably damaging	0.99
R1561:Pkd1l3	UTSW	8	109614813	missense	unknown
R1574:Pkd1l3	UTSW	8	109614813	missense	unknown
R1599:Pkd1l3	UTSW	8	109636384	missense	probably benign	0.01
R1688:Pkd1l3	UTSW	8	109623818	missense	probably benign	0.18
R1792:Pkd1l3	UTSW	8	109632605	missense	probably damaging	1.00
R1818:Pkd1l3	UTSW	8	109648406	missense	probably benign	0.03
R1896:Pkd1l3	UTSW	8	109624199	missense	possibly damaging	0.92
R2105:Pkd1l3	UTSW	8	109647573	nonsense	probably null
R2185:Pkd1l3	UTSW	8	109633195	missense	possibly damaging	0.95
R2192:Pkd1l3	UTSW	8	109620524	missense	unknown
R2260:Pkd1l3	UTSW	8	109623636	missense	probably benign	0.18
R2363:Pkd1l3	UTSW	8	109628709	missense	probably benign	0.01
R2418:Pkd1l3	UTSW	8	109670721	makesense	probably null
R2435:Pkd1l3	UTSW	8	109650702	missense	probably benign	0.07
R2443:Pkd1l3	UTSW	8	109623815	missense	probably benign	0.18
R2850:Pkd1l3	UTSW	8	109623990	missense	possibly damaging	0.92
R2910:Pkd1l3	UTSW	8	109667636	splice site	probably benign
R3755:Pkd1l3	UTSW	8	109632539	missense	probably damaging	1.00
R3791:Pkd1l3	UTSW	8	109636317	missense	probably damaging	0.99
R3905:Pkd1l3	UTSW	8	109646879	missense	probably benign	0.02
R4027:Pkd1l3	UTSW	8	109623971	missense	possibly damaging	0.68
R4028:Pkd1l3	UTSW	8	109623971	missense	possibly damaging	0.68
R4029:Pkd1l3	UTSW	8	109623971	missense	possibly damaging	0.68
R4274:Pkd1l3	UTSW	8	109624119	missense	possibly damaging	0.92
R4461:Pkd1l3	UTSW	8	109632713	intron	probably null
R4893:Pkd1l3	UTSW	8	109638394	missense	probably benign	0.15
R4907:Pkd1l3	UTSW	8	109640843	missense	probably damaging	0.99
R5037:Pkd1l3	UTSW	8	109665636	missense	probably damaging	1.00
R5045:Pkd1l3	UTSW	8	109623155	missense	unknown
R5207:Pkd1l3	UTSW	8	109633191	missense	probably damaging	1.00
R5307:Pkd1l3	UTSW	8	109640792	missense	probably damaging	1.00
R5408:Pkd1l3	UTSW	8	109667052	missense	probably damaging	1.00
R5595:Pkd1l3	UTSW	8	109655520	missense	probably damaging	1.00
R5615:Pkd1l3	UTSW	8	109630210	missense	probably benign
R5623:Pkd1l3	UTSW	8	109623719	missense	possibly damaging	0.53
R5896:Pkd1l3	UTSW	8	109626836	missense	probably damaging	1.00
R6101:Pkd1l3	UTSW	8	109640846	missense	probably damaging	1.00
R6105:Pkd1l3	UTSW	8	109640846	missense	probably damaging	1.00
R6170:Pkd1l3	UTSW	8	109623179	missense	unknown
R6330:Pkd1l3	UTSW	8	109646909	missense	probably benign	0.00
R6346:Pkd1l3	UTSW	8	109631384	missense	probably damaging	0.98
R6395:Pkd1l3	UTSW	8	109623963	missense	probably benign	0.20
R6475:Pkd1l3	UTSW	8	109623212	missense	unknown
R6480:Pkd1l3	UTSW	8	109638387	nonsense	probably null
R6519:Pkd1l3	UTSW	8	109628772	missense	probably benign
R6654:Pkd1l3	UTSW	8	109624283	missense	probably benign	0.23
R6717:Pkd1l3	UTSW	8	109614769	missense	unknown
R6733:Pkd1l3	UTSW	8	109648494	splice site	probably null
R6753:Pkd1l3	UTSW	8	109624449	missense	probably damaging	1.00
R6777:Pkd1l3	UTSW	8	109626814	missense	probably benign	0.00
R6901:Pkd1l3	UTSW	8	109614614	missense	unknown
R6975:Pkd1l3	UTSW	8	109660907	missense	possibly damaging	0.73
R6991:Pkd1l3	UTSW	8	109624195	small deletion	probably benign
R7018:Pkd1l3	UTSW	8	109624195	small deletion	probably benign
R7083:Pkd1l3	UTSW	8	109624195	small deletion	probably benign
R7139:Pkd1l3	UTSW	8	109636340	missense	probably damaging	0.96
R7153:Pkd1l3	UTSW	8	109624195	small deletion	probably benign
R7235:Pkd1l3	UTSW	8	109624195	small deletion	probably benign
R7238:Pkd1l3	UTSW	8	109624195	small deletion	probably benign
R7252:Pkd1l3	UTSW	8	109660698	missense	probably benign	0.01
R7296:Pkd1l3	UTSW	8	109624195	small deletion	probably benign
R7309:Pkd1l3	UTSW	8	109648261	synonymous	probably null
R7362:Pkd1l3	UTSW	8	109624195	small deletion	probably benign
R7462:Pkd1l3	UTSW	8	109628777	missense	probably benign	0.00
R7470:Pkd1l3	UTSW	8	109638376	missense	probably benign	0.09
R7478:Pkd1l3	UTSW	8	109633315	missense	probably damaging	1.00
R7483:Pkd1l3	UTSW	8	109624195	small deletion	probably benign
R7516:Pkd1l3	UTSW	8	109635229	missense	probably damaging	1.00
R7537:Pkd1l3	UTSW	8	109623788	small deletion	probably benign
R7553:Pkd1l3	UTSW	8	109624195	small deletion	probably benign
R7559:Pkd1l3	UTSW	8	109624440	missense	probably benign	0.03
R7650:Pkd1l3	UTSW	8	109672585	missense	probably benign	0.23
R7654:Pkd1l3	UTSW	8	109638417	missense	probably damaging	1.00
R7742:Pkd1l3	UTSW	8	109614572	missense	unknown
R7749:Pkd1l3	UTSW	8	109624195	small deletion	probably benign
R7751:Pkd1l3	UTSW	8	109624195	small deletion	probably benign
R7755:Pkd1l3	UTSW	8	109630166	missense	possibly damaging	0.85
R7816:Pkd1l3	UTSW	8	109624195	small deletion	probably benign
RF016:Pkd1l3	UTSW	8	109623542	missense	probably benign	0.18
RF029:Pkd1l3	UTSW	8	109624195	small deletion	probably benign
X0026:Pkd1l3	UTSW	8	109614553	missense	probably null
Z31818:Pkd1l3	UTSW	8	109669292	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTTCATTCAGTCAGCAACAAG -3'
(R):5'- AAGATGCAGTTCCTGGCTGTC -3'

Sequencing Primer
(F):5'- TCTCACTAGGATTTATTACTGACGGG -3'
(R):5'- CTGTCCTGTGATGGGCCTC -3'

Posted On

2019-06-07