Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4453001:Pkd1l2'

555329

Institutional Source

Beutler Lab

Gene Symbol

Pkd1l2

Ensembl Gene

ENSMUSG00000034416

Gene Name

polycystic kidney disease 1 like 2

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4453001 (G1)

Quality Score

104.008

Status

Not validated

Chromosome

Chromosomal Location

116995679-117082449 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 117022022 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 1803 (S1803R)

Ref Sequence

ENSEMBL: ENSMUSP00000104721 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098375] [ENSMUST00000109093]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000098375
AA Change: S1802R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000095977
Gene: ENSMUSG00000034416
AA Change: S1802R

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
CLECT	26	152	1.56e-21	SMART
Pfam:Gal_Lectin	168	250	1.8e-18	PFAM
PKD	260	341	3.84e-1	SMART
low complexity region	496	507	N/A	INTRINSIC
Pfam:REJ	510	886	1.8e-13	PFAM
low complexity region	1050	1060	N/A	INTRINSIC
GPS	1278	1327	1.61e-11	SMART
transmembrane domain	1346	1365	N/A	INTRINSIC
LH2	1390	1509	6.05e-13	SMART
transmembrane domain	1552	1574	N/A	INTRINSIC
transmembrane domain	1589	1611	N/A	INTRINSIC
transmembrane domain	1815	1837	N/A	INTRINSIC
transmembrane domain	1852	1874	N/A	INTRINSIC
transmembrane domain	1940	1962	N/A	INTRINSIC
Pfam:PKD_channel	1980	2403	6.4e-107	PFAM
Pfam:Ion_trans	2187	2396	2.5e-12	PFAM
low complexity region	2441	2458	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109093
AA Change: S1803R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000104721
Gene: ENSMUSG00000034416
AA Change: S1803R

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
CLECT	26	152	1.56e-21	SMART
Pfam:Gal_Lectin	168	250	6.9e-19	PFAM
PKD	260	341	3.84e-1	SMART
low complexity region	496	507	N/A	INTRINSIC
Pfam:REJ	519	883	7e-11	PFAM
low complexity region	1051	1061	N/A	INTRINSIC
GPS	1279	1328	1.61e-11	SMART
transmembrane domain	1347	1366	N/A	INTRINSIC
LH2	1391	1510	6.05e-13	SMART
transmembrane domain	1553	1575	N/A	INTRINSIC
transmembrane domain	1590	1612	N/A	INTRINSIC
transmembrane domain	1816	1838	N/A	INTRINSIC
transmembrane domain	1853	1875	N/A	INTRINSIC
transmembrane domain	1941	1963	N/A	INTRINSIC
Pfam:PKD_channel	1981	2403	5.9e-106	PFAM
Pfam:Ion_trans	2138	2409	3.4e-12	PFAM
low complexity region	2442	2459	N/A	INTRINSIC

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. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

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
Pkd1l3	C	A	8: 109,660,801	N1792K	probably damaging	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 Pkd1l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01338:Pkd1l2	APN	8	117059520	nonsense	probably null
IGL01353:Pkd1l2	APN	8	117057443	missense	probably benign	0.24
IGL01362:Pkd1l2	APN	8	117021856	missense	probably damaging	1.00
IGL01486:Pkd1l2	APN	8	117059592	missense	probably benign
IGL01672:Pkd1l2	APN	8	117080732	missense	possibly damaging	0.94
IGL01696:Pkd1l2	APN	8	117056387	missense	probably benign	0.12
IGL01819:Pkd1l2	APN	8	116998174	missense	probably damaging	1.00
IGL01833:Pkd1l2	APN	8	117060525	missense	probably benign	0.00
IGL01981:Pkd1l2	APN	8	117016916	missense	probably benign	0.04
IGL02066:Pkd1l2	APN	8	117009564	splice site	probably benign
IGL02381:Pkd1l2	APN	8	117035800	splice site	probably benign
IGL02416:Pkd1l2	APN	8	117040835	missense	possibly damaging	0.82
IGL02736:Pkd1l2	APN	8	117040666	missense	probably benign	0.00
IGL02828:Pkd1l2	APN	8	117029559	missense	probably benign
IGL02861:Pkd1l2	APN	8	117065745	missense	probably benign	0.07
IGL02862:Pkd1l2	APN	8	117065745	missense	probably benign	0.07
IGL02883:Pkd1l2	APN	8	117065745	missense	probably benign	0.07
IGL02884:Pkd1l2	APN	8	117065745	missense	probably benign	0.07
IGL02894:Pkd1l2	APN	8	117013891	missense	probably damaging	0.97
IGL02900:Pkd1l2	APN	8	117024091	missense	probably benign	0.03
IGL02901:Pkd1l2	APN	8	117065745	missense	probably benign	0.07
IGL02929:Pkd1l2	APN	8	117065745	missense	probably benign	0.07
IGL02941:Pkd1l2	APN	8	117065745	missense	probably benign	0.07
IGL02957:Pkd1l2	APN	8	117065745	missense	probably benign	0.07
IGL02969:Pkd1l2	APN	8	117065745	missense	probably benign	0.07
IGL03028:Pkd1l2	APN	8	117065745	missense	probably benign	0.07
IGL03059:Pkd1l2	APN	8	117065745	missense	probably benign	0.07
IGL03065:Pkd1l2	APN	8	117065745	missense	probably benign	0.07
IGL03066:Pkd1l2	APN	8	117065745	missense	probably benign	0.07
IGL03083:Pkd1l2	APN	8	117065745	missense	probably benign	0.07
IGL03084:Pkd1l2	APN	8	117065745	missense	probably benign	0.07
IGL03124:Pkd1l2	APN	8	117065745	missense	probably benign	0.07
IGL03162:Pkd1l2	APN	8	117065745	missense	probably benign	0.07
IGL03165:Pkd1l2	APN	8	117065745	missense	probably benign	0.07
IGL03335:Pkd1l2	APN	8	117065745	missense	probably benign	0.07
IGL03357:Pkd1l2	APN	8	116995809	missense	probably damaging	1.00
IGL02835:Pkd1l2	UTSW	8	117065745	missense	probably benign	0.07
R0127:Pkd1l2	UTSW	8	117050048	splice site	probably benign
R0309:Pkd1l2	UTSW	8	116997576	missense	probably damaging	0.99
R0365:Pkd1l2	UTSW	8	117021850	missense	probably benign	0.02
R0526:Pkd1l2	UTSW	8	117082260	missense	probably damaging	1.00
R0571:Pkd1l2	UTSW	8	117082218	missense	probably benign	0.01
R0716:Pkd1l2	UTSW	8	117051100	missense	probably damaging	1.00
R0787:Pkd1l2	UTSW	8	117076177	missense	possibly damaging	0.90
R0893:Pkd1l2	UTSW	8	117044492	missense	probably damaging	0.99
R1256:Pkd1l2	UTSW	8	117019543	critical splice acceptor site	probably null
R1391:Pkd1l2	UTSW	8	117054934	missense	possibly damaging	0.87
R1474:Pkd1l2	UTSW	8	117065497	splice site	probably benign
R1491:Pkd1l2	UTSW	8	117028408	missense	probably damaging	1.00
R1520:Pkd1l2	UTSW	8	117046159	missense	probably benign	0.00
R1521:Pkd1l2	UTSW	8	117065500	splice site	probably null
R1544:Pkd1l2	UTSW	8	117038235	frame shift	probably null
R1558:Pkd1l2	UTSW	8	117082252	missense	possibly damaging	0.94
R1673:Pkd1l2	UTSW	8	117040775	missense	probably benign	0.00
R1691:Pkd1l2	UTSW	8	117056419	missense	possibly damaging	0.60
R1754:Pkd1l2	UTSW	8	117030719	missense	possibly damaging	0.81
R1857:Pkd1l2	UTSW	8	117040669	missense	possibly damaging	0.70
R1939:Pkd1l2	UTSW	8	117046182	nonsense	probably null
R1955:Pkd1l2	UTSW	8	117043361	missense	probably benign
R1957:Pkd1l2	UTSW	8	117030682	missense	probably damaging	1.00
R1959:Pkd1l2	UTSW	8	117043231	critical splice donor site	probably null
R2024:Pkd1l2	UTSW	8	117019533	missense	probably benign
R2046:Pkd1l2	UTSW	8	116999955	missense	probably damaging	1.00
R2102:Pkd1l2	UTSW	8	117081469	missense	probably damaging	0.98
R2116:Pkd1l2	UTSW	8	117030722	missense	possibly damaging	0.93
R2148:Pkd1l2	UTSW	8	117056325	missense	probably damaging	0.98
R2251:Pkd1l2	UTSW	8	117057438	missense	probably damaging	1.00
R2252:Pkd1l2	UTSW	8	117057438	missense	probably damaging	1.00
R2366:Pkd1l2	UTSW	8	117043317	missense	probably benign	0.01
R2566:Pkd1l2	UTSW	8	117019494	missense	probably damaging	1.00
R2872:Pkd1l2	UTSW	8	117038164	missense	probably benign	0.10
R2872:Pkd1l2	UTSW	8	117038164	missense	probably benign	0.10
R2985:Pkd1l2	UTSW	8	117065551	missense	probably benign	0.00
R3055:Pkd1l2	UTSW	8	117068315	critical splice acceptor site	probably null
R3436:Pkd1l2	UTSW	8	117040739	missense	probably benign	0.01
R4732:Pkd1l2	UTSW	8	116995842	critical splice acceptor site	probably null
R4733:Pkd1l2	UTSW	8	116995842	critical splice acceptor site	probably null
R4763:Pkd1l2	UTSW	8	117019429	missense	probably damaging	0.96
R4789:Pkd1l2	UTSW	8	117011575	missense	probably damaging	0.99
R4921:Pkd1l2	UTSW	8	117054885	missense	probably benign	0.03
R4921:Pkd1l2	UTSW	8	117072549	missense	probably damaging	0.97
R4999:Pkd1l2	UTSW	8	117047374	splice site	probably null
R5057:Pkd1l2	UTSW	8	117055008	missense	probably benign	0.21
R5209:Pkd1l2	UTSW	8	117056442	missense	probably benign	0.23
R5241:Pkd1l2	UTSW	8	117035118	missense	probably damaging	1.00
R5480:Pkd1l2	UTSW	8	117030649	missense	probably damaging	0.99
R5501:Pkd1l2	UTSW	8	117065830	missense	probably damaging	0.98
R5533:Pkd1l2	UTSW	8	117068116	missense	probably benign	0.03
R5582:Pkd1l2	UTSW	8	117040783	nonsense	probably null
R5610:Pkd1l2	UTSW	8	117042320	missense	probably benign	0.04
R5770:Pkd1l2	UTSW	8	117055018	missense	probably damaging	1.00
R5854:Pkd1l2	UTSW	8	117065746	missense	possibly damaging	0.48
R5867:Pkd1l2	UTSW	8	117055011	missense	probably damaging	0.96
R5881:Pkd1l2	UTSW	8	116997582	missense	probably damaging	0.99
R5906:Pkd1l2	UTSW	8	117029648	missense	probably damaging	1.00
R5909:Pkd1l2	UTSW	8	117024056	missense	probably benign	0.00
R6030:Pkd1l2	UTSW	8	117043237	missense	probably damaging	1.00
R6030:Pkd1l2	UTSW	8	117043237	missense	probably damaging	1.00
R6084:Pkd1l2	UTSW	8	117013987	missense	probably damaging	1.00
R6122:Pkd1l2	UTSW	8	117082368	missense	probably benign	0.02
R6216:Pkd1l2	UTSW	8	117081470	missense	probably damaging	1.00
R6406:Pkd1l2	UTSW	8	117035847	missense	probably damaging	0.99
R6417:Pkd1l2	UTSW	8	117013899	missense	probably damaging	1.00
R6420:Pkd1l2	UTSW	8	117013899	missense	probably damaging	1.00
R6601:Pkd1l2	UTSW	8	117040666	missense	probably benign	0.00
R6743:Pkd1l2	UTSW	8	117030631	missense	probably damaging	1.00
R7053:Pkd1l2	UTSW	8	117013942	missense	probably damaging	1.00
R7144:Pkd1l2	UTSW	8	117076131	nonsense	probably null
R7148:Pkd1l2	UTSW	8	117080786	missense	probably benign	0.00
R7169:Pkd1l2	UTSW	8	117040835	missense	possibly damaging	0.82
R7217:Pkd1l2	UTSW	8	116995797	missense	probably benign	0.24
R7310:Pkd1l2	UTSW	8	117024034	missense	probably benign
R7382:Pkd1l2	UTSW	8	117054871	missense	possibly damaging	0.95
R7397:Pkd1l2	UTSW	8	117035902	missense	possibly damaging	0.94
R7408:Pkd1l2	UTSW	8	117028479	missense	possibly damaging	0.77
R7437:Pkd1l2	UTSW	8	117030682	missense	probably damaging	0.96
R7492:Pkd1l2	UTSW	8	117068110	missense	probably damaging	1.00
R7496:Pkd1l2	UTSW	8	117060594	missense	possibly damaging	0.89
R7519:Pkd1l2	UTSW	8	117065529	missense	probably benign
R7590:Pkd1l2	UTSW	8	117080786	missense	probably benign	0.00
R7623:Pkd1l2	UTSW	8	117029645	missense	probably damaging	1.00
R7768:Pkd1l2	UTSW	8	117054860	critical splice donor site	probably null
R7897:Pkd1l2	UTSW	8	116998088	missense	possibly damaging	0.69
R7982:Pkd1l2	UTSW	8	117051187	missense	possibly damaging	0.70
R8024:Pkd1l2	UTSW	8	117076182	missense	possibly damaging	0.85
R8140:Pkd1l2	UTSW	8	117047497	missense	probably benign
R8145:Pkd1l2	UTSW	8	117055003	missense	probably benign
R8228:Pkd1l2	UTSW	8	117065775	missense	probably damaging	0.97
R8252:Pkd1l2	UTSW	8	117040733	missense	probably benign	0.29
R8500:Pkd1l2	UTSW	8	117047563	critical splice acceptor site	probably null
R8732:Pkd1l2	UTSW	8	117065572	missense	probably benign	0.28
R8809:Pkd1l2	UTSW	8	116999921	missense	probably damaging	1.00
R8896:Pkd1l2	UTSW	8	117013876	missense	possibly damaging	0.91
R8961:Pkd1l2	UTSW	8	116999978	missense	possibly damaging	0.52
R8985:Pkd1l2	UTSW	8	117038110	missense	probably benign	0.01
R9008:Pkd1l2	UTSW	8	117042298	missense	probably benign	0.32
R9091:Pkd1l2	UTSW	8	117032694	missense	probably damaging	1.00
R9138:Pkd1l2	UTSW	8	117055009	missense	probably benign	0.43
R9160:Pkd1l2	UTSW	8	117040669	missense	possibly damaging	0.70
R9249:Pkd1l2	UTSW	8	117019420	missense	probably damaging	0.99
R9270:Pkd1l2	UTSW	8	117032694	missense	probably damaging	1.00
R9735:Pkd1l2	UTSW	8	117046081	missense	possibly damaging	0.94
Z1176:Pkd1l2	UTSW	8	117054914	missense	probably damaging	1.00
Z1177:Pkd1l2	UTSW	8	117030691	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACACAGCCATGGAGATGAGC -3'
(R):5'- ACTGGACAAATGGCAGCCTAG -3'

Sequencing Primer
(F):5'- CCATGGAGATGAGCCACTTG -3'
(R):5'- CTGTCTTCAGATACTCCAGAAGAGG -3'

Posted On

2019-06-07