Mutagenetix > Incidental Mutation

Incidental Mutation 'R8961:Pkd1l2'

682346

Institutional Source

Beutler Lab

Gene Symbol

Pkd1l2

Ensembl Gene

ENSMUSG00000034416

Gene Name

polycystic kidney disease 1 like 2

Synonyms

MMRRC Submission

068795-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8961 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116995679-117082449 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116999978 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 2263 (I2263T)

Ref Sequence

ENSEMBL: ENSMUSP00000104721 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098375
AA Change: I2262T

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000095977
Gene: ENSMUSG00000034416
AA Change: I2262T

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

possibly damaging
Transcript: ENSMUST00000109093
AA Change: I2263T

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000104721
Gene: ENSMUSG00000034416
AA Change: I2263T

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

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. 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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700064H15Rik	T	A	3: 19,610,469		probably benign	Het
Angptl6	T	C	9: 20,878,171	T142A	probably benign	Het
Atp6v1b2	A	G	8: 69,102,762	I202V	probably benign	Het
B3gat2	A	T	1: 23,762,819	D62V	probably benign	Het
Ccdc180	A	G	4: 45,929,573	D1211G	possibly damaging	Het
Ccp110	T	G	7: 118,722,887	D588E	probably damaging	Het
Cdh6	A	T	15: 13,041,361	I539K	probably benign	Het
Chd5	A	G	4: 152,383,032		probably benign	Het
Crim1	T	C	17: 78,372,688	S953P	possibly damaging	Het
Dennd2a	T	C	6: 39,485,621	K652E	probably damaging	Het
Dnajb3	T	A	1: 88,205,276	R135*	probably null	Het
Dnajc25	T	A	4: 59,020,438	M168K		Het
Elfn2	T	C	15: 78,673,178	S390G	probably benign	Het
Ephb6	C	T	6: 41,613,359	A15V	probably benign	Het
Fam135b	T	A	15: 71,532,963	N78I	probably damaging	Het
Flot2	G	A	11: 78,054,806		probably benign	Het
Gm10277	T	A	11: 77,787,000		probably benign	Het
Itpr1	T	C	6: 108,493,705	V2198A	possibly damaging	Het
Kndc1	T	A	7: 139,924,061	F1093L	possibly damaging	Het
Kndc1	C	T	7: 139,927,795	S1222F	possibly damaging	Het
Kpna4	T	C	3: 69,079,488	T523A	probably benign	Het
Krt39	T	C	11: 99,519,105	D202G	possibly damaging	Het
Loxhd1	C	T	18: 77,385,069	T985M	probably damaging	Het
Mdc1	T	C	17: 35,848,515	S596P	probably benign	Het
Misp	A	G	10: 79,827,989	Q599R	probably benign	Het
Mogs	C	A	6: 83,115,739	F53L	probably benign	Het
Mthfr	A	T	4: 148,043,642	N167Y	probably damaging	Het
Nod1	C	T	6: 54,949,476	E53K	probably damaging	Het
Olfr1030	T	A	2: 85,984,266	M142K	probably damaging	Het
Olfr1346	T	C	7: 6,474,764	V218A	probably benign	Het
Olfr339	A	T	2: 36,422,165	I256F	probably damaging	Het
Olfr685	A	G	7: 105,181,169	I48T	possibly damaging	Het
Olfr787	C	T	10: 129,463,356	P227S	probably damaging	Het
Rbbp8	T	C	18: 11,732,205	M717T	probably benign	Het
Rest	A	G	5: 77,268,635	H232R	probably damaging	Het
Rps6ka1	A	G	4: 133,860,051		probably null	Het
Rtf1	T	A	2: 119,726,896	F465I	probably benign	Het
Skil	T	C	3: 31,113,580	S454P	probably benign	Het
Snx13	T	C	12: 35,105,286	Y450H	probably damaging	Het
Spef2	T	A	15: 9,647,328	E971V	possibly damaging	Het
Sqle	T	A	15: 59,315,846	M1K	probably null	Het
Srcap	C	G	7: 127,541,929	P1566R	probably damaging	Het
Stxbp5l	ATTTT	ATTTTT	16: 37,216,052		probably null	Het
Tmc3	T	C	7: 83,607,762	Y408H	probably damaging	Het
Uba2	A	T	7: 34,156,217		probably benign	Het
Unc13c	G	T	9: 73,932,242	N442K	probably benign	Het
Vmn1r21	T	A	6: 57,843,844	H205L	probably damaging	Het
Vwa7	C	T	17: 35,019,110	T229I	probably damaging	Het
Washc4	A	G	10: 83,573,793	D602G	probably damaging	Het
Zcchc9	C	A	13: 91,805,836		probably benign	Het

Other mutations in Pkd1l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01338:Pkd1l2	APN	8	117,059,520 (GRCm38)	nonsense	probably null
IGL01353:Pkd1l2	APN	8	117,057,443 (GRCm38)	missense	probably benign	0.24
IGL01362:Pkd1l2	APN	8	117,021,856 (GRCm38)	missense	probably damaging	1.00
IGL01486:Pkd1l2	APN	8	117,059,592 (GRCm38)	missense	probably benign
IGL01672:Pkd1l2	APN	8	117,080,732 (GRCm38)	missense	possibly damaging	0.94
IGL01696:Pkd1l2	APN	8	117,056,387 (GRCm38)	missense	probably benign	0.12
IGL01819:Pkd1l2	APN	8	116,998,174 (GRCm38)	missense	probably damaging	1.00
IGL01833:Pkd1l2	APN	8	117,060,525 (GRCm38)	missense	probably benign	0.00
IGL01981:Pkd1l2	APN	8	117,016,916 (GRCm38)	missense	probably benign	0.04
IGL02066:Pkd1l2	APN	8	117,009,564 (GRCm38)	splice site	probably benign
IGL02381:Pkd1l2	APN	8	117,035,800 (GRCm38)	splice site	probably benign
IGL02416:Pkd1l2	APN	8	117,040,835 (GRCm38)	missense	possibly damaging	0.82
IGL02736:Pkd1l2	APN	8	117,040,666 (GRCm38)	missense	probably benign	0.00
IGL02828:Pkd1l2	APN	8	117,029,559 (GRCm38)	missense	probably benign
IGL02861:Pkd1l2	APN	8	117,065,745 (GRCm38)	missense	probably benign	0.07
IGL02862:Pkd1l2	APN	8	117,065,745 (GRCm38)	missense	probably benign	0.07
IGL02883:Pkd1l2	APN	8	117,065,745 (GRCm38)	missense	probably benign	0.07
IGL02884:Pkd1l2	APN	8	117,065,745 (GRCm38)	missense	probably benign	0.07
IGL02894:Pkd1l2	APN	8	117,013,891 (GRCm38)	missense	probably damaging	0.97
IGL02900:Pkd1l2	APN	8	117,024,091 (GRCm38)	missense	probably benign	0.03
IGL02901:Pkd1l2	APN	8	117,065,745 (GRCm38)	missense	probably benign	0.07
IGL02929:Pkd1l2	APN	8	117,065,745 (GRCm38)	missense	probably benign	0.07
IGL02941:Pkd1l2	APN	8	117,065,745 (GRCm38)	missense	probably benign	0.07
IGL02957:Pkd1l2	APN	8	117,065,745 (GRCm38)	missense	probably benign	0.07
IGL02969:Pkd1l2	APN	8	117,065,745 (GRCm38)	missense	probably benign	0.07
IGL03028:Pkd1l2	APN	8	117,065,745 (GRCm38)	missense	probably benign	0.07
IGL03059:Pkd1l2	APN	8	117,065,745 (GRCm38)	missense	probably benign	0.07
IGL03065:Pkd1l2	APN	8	117,065,745 (GRCm38)	missense	probably benign	0.07
IGL03066:Pkd1l2	APN	8	117,065,745 (GRCm38)	missense	probably benign	0.07
IGL03083:Pkd1l2	APN	8	117,065,745 (GRCm38)	missense	probably benign	0.07
IGL03084:Pkd1l2	APN	8	117,065,745 (GRCm38)	missense	probably benign	0.07
IGL03124:Pkd1l2	APN	8	117,065,745 (GRCm38)	missense	probably benign	0.07
IGL03162:Pkd1l2	APN	8	117,065,745 (GRCm38)	missense	probably benign	0.07
IGL03165:Pkd1l2	APN	8	117,065,745 (GRCm38)	missense	probably benign	0.07
IGL03335:Pkd1l2	APN	8	117,065,745 (GRCm38)	missense	probably benign	0.07
IGL03357:Pkd1l2	APN	8	116,995,809 (GRCm38)	missense	probably damaging	1.00
IGL02835:Pkd1l2	UTSW	8	117,065,745 (GRCm38)	missense	probably benign	0.07
PIT4453001:Pkd1l2	UTSW	8	117,022,022 (GRCm38)	missense	probably benign	0.00
R0127:Pkd1l2	UTSW	8	117,050,048 (GRCm38)	splice site	probably benign
R0309:Pkd1l2	UTSW	8	116,997,576 (GRCm38)	missense	probably damaging	0.99
R0365:Pkd1l2	UTSW	8	117,021,850 (GRCm38)	missense	probably benign	0.02
R0526:Pkd1l2	UTSW	8	117,082,260 (GRCm38)	missense	probably damaging	1.00
R0571:Pkd1l2	UTSW	8	117,082,218 (GRCm38)	missense	probably benign	0.01
R0716:Pkd1l2	UTSW	8	117,051,100 (GRCm38)	missense	probably damaging	1.00
R0787:Pkd1l2	UTSW	8	117,076,177 (GRCm38)	missense	possibly damaging	0.90
R0893:Pkd1l2	UTSW	8	117,044,492 (GRCm38)	missense	probably damaging	0.99
R1256:Pkd1l2	UTSW	8	117,019,543 (GRCm38)	critical splice acceptor site	probably null
R1391:Pkd1l2	UTSW	8	117,054,934 (GRCm38)	missense	possibly damaging	0.87
R1474:Pkd1l2	UTSW	8	117,065,497 (GRCm38)	splice site	probably benign
R1491:Pkd1l2	UTSW	8	117,028,408 (GRCm38)	missense	probably damaging	1.00
R1520:Pkd1l2	UTSW	8	117,046,159 (GRCm38)	missense	probably benign	0.00
R1521:Pkd1l2	UTSW	8	117,065,500 (GRCm38)	splice site	probably null
R1544:Pkd1l2	UTSW	8	117,038,235 (GRCm38)	frame shift	probably null
R1558:Pkd1l2	UTSW	8	117,082,252 (GRCm38)	missense	possibly damaging	0.94
R1673:Pkd1l2	UTSW	8	117,040,775 (GRCm38)	missense	probably benign	0.00
R1691:Pkd1l2	UTSW	8	117,056,419 (GRCm38)	missense	possibly damaging	0.60
R1754:Pkd1l2	UTSW	8	117,030,719 (GRCm38)	missense	possibly damaging	0.81
R1857:Pkd1l2	UTSW	8	117,040,669 (GRCm38)	missense	possibly damaging	0.70
R1939:Pkd1l2	UTSW	8	117,046,182 (GRCm38)	nonsense	probably null
R1955:Pkd1l2	UTSW	8	117,043,361 (GRCm38)	missense	probably benign
R1957:Pkd1l2	UTSW	8	117,030,682 (GRCm38)	missense	probably damaging	1.00
R1959:Pkd1l2	UTSW	8	117,043,231 (GRCm38)	critical splice donor site	probably null
R2024:Pkd1l2	UTSW	8	117,019,533 (GRCm38)	missense	probably benign
R2046:Pkd1l2	UTSW	8	116,999,955 (GRCm38)	missense	probably damaging	1.00
R2102:Pkd1l2	UTSW	8	117,081,469 (GRCm38)	missense	probably damaging	0.98
R2116:Pkd1l2	UTSW	8	117,030,722 (GRCm38)	missense	possibly damaging	0.93
R2148:Pkd1l2	UTSW	8	117,056,325 (GRCm38)	missense	probably damaging	0.98
R2251:Pkd1l2	UTSW	8	117,057,438 (GRCm38)	missense	probably damaging	1.00
R2252:Pkd1l2	UTSW	8	117,057,438 (GRCm38)	missense	probably damaging	1.00
R2366:Pkd1l2	UTSW	8	117,043,317 (GRCm38)	missense	probably benign	0.01
R2566:Pkd1l2	UTSW	8	117,019,494 (GRCm38)	missense	probably damaging	1.00
R2872:Pkd1l2	UTSW	8	117,038,164 (GRCm38)	missense	probably benign	0.10
R2872:Pkd1l2	UTSW	8	117,038,164 (GRCm38)	missense	probably benign	0.10
R2985:Pkd1l2	UTSW	8	117,065,551 (GRCm38)	missense	probably benign	0.00
R3055:Pkd1l2	UTSW	8	117,068,315 (GRCm38)	critical splice acceptor site	probably null
R3436:Pkd1l2	UTSW	8	117,040,739 (GRCm38)	missense	probably benign	0.01
R4732:Pkd1l2	UTSW	8	116,995,842 (GRCm38)	critical splice acceptor site	probably null
R4733:Pkd1l2	UTSW	8	116,995,842 (GRCm38)	critical splice acceptor site	probably null
R4763:Pkd1l2	UTSW	8	117,019,429 (GRCm38)	missense	probably damaging	0.96
R4789:Pkd1l2	UTSW	8	117,011,575 (GRCm38)	missense	probably damaging	0.99
R4921:Pkd1l2	UTSW	8	117,054,885 (GRCm38)	missense	probably benign	0.03
R4921:Pkd1l2	UTSW	8	117,072,549 (GRCm38)	missense	probably damaging	0.97
R4999:Pkd1l2	UTSW	8	117,047,374 (GRCm38)	splice site	probably null
R5057:Pkd1l2	UTSW	8	117,055,008 (GRCm38)	missense	probably benign	0.21
R5209:Pkd1l2	UTSW	8	117,056,442 (GRCm38)	missense	probably benign	0.23
R5241:Pkd1l2	UTSW	8	117,035,118 (GRCm38)	missense	probably damaging	1.00
R5480:Pkd1l2	UTSW	8	117,030,649 (GRCm38)	missense	probably damaging	0.99
R5501:Pkd1l2	UTSW	8	117,065,830 (GRCm38)	missense	probably damaging	0.98
R5533:Pkd1l2	UTSW	8	117,068,116 (GRCm38)	missense	probably benign	0.03
R5582:Pkd1l2	UTSW	8	117,040,783 (GRCm38)	nonsense	probably null
R5610:Pkd1l2	UTSW	8	117,042,320 (GRCm38)	missense	probably benign	0.04
R5770:Pkd1l2	UTSW	8	117,055,018 (GRCm38)	missense	probably damaging	1.00
R5854:Pkd1l2	UTSW	8	117,065,746 (GRCm38)	missense	possibly damaging	0.48
R5867:Pkd1l2	UTSW	8	117,055,011 (GRCm38)	missense	probably damaging	0.96
R5881:Pkd1l2	UTSW	8	116,997,582 (GRCm38)	missense	probably damaging	0.99
R5906:Pkd1l2	UTSW	8	117,029,648 (GRCm38)	missense	probably damaging	1.00
R5909:Pkd1l2	UTSW	8	117,024,056 (GRCm38)	missense	probably benign	0.00
R6030:Pkd1l2	UTSW	8	117,043,237 (GRCm38)	missense	probably damaging	1.00
R6030:Pkd1l2	UTSW	8	117,043,237 (GRCm38)	missense	probably damaging	1.00
R6084:Pkd1l2	UTSW	8	117,013,987 (GRCm38)	missense	probably damaging	1.00
R6122:Pkd1l2	UTSW	8	117,082,368 (GRCm38)	missense	probably benign	0.02
R6216:Pkd1l2	UTSW	8	117,081,470 (GRCm38)	missense	probably damaging	1.00
R6406:Pkd1l2	UTSW	8	117,035,847 (GRCm38)	missense	probably damaging	0.99
R6417:Pkd1l2	UTSW	8	117,013,899 (GRCm38)	missense	probably damaging	1.00
R6420:Pkd1l2	UTSW	8	117,013,899 (GRCm38)	missense	probably damaging	1.00
R6601:Pkd1l2	UTSW	8	117,040,666 (GRCm38)	missense	probably benign	0.00
R6743:Pkd1l2	UTSW	8	117,030,631 (GRCm38)	missense	probably damaging	1.00
R7053:Pkd1l2	UTSW	8	117,013,942 (GRCm38)	missense	probably damaging	1.00
R7144:Pkd1l2	UTSW	8	117,076,131 (GRCm38)	nonsense	probably null
R7148:Pkd1l2	UTSW	8	117,080,786 (GRCm38)	missense	probably benign	0.00
R7169:Pkd1l2	UTSW	8	117,040,835 (GRCm38)	missense	possibly damaging	0.82
R7217:Pkd1l2	UTSW	8	116,995,797 (GRCm38)	missense	probably benign	0.24
R7310:Pkd1l2	UTSW	8	117,024,034 (GRCm38)	missense	probably benign
R7382:Pkd1l2	UTSW	8	117,054,871 (GRCm38)	missense	possibly damaging	0.95
R7397:Pkd1l2	UTSW	8	117,035,902 (GRCm38)	missense	possibly damaging	0.94
R7408:Pkd1l2	UTSW	8	117,028,479 (GRCm38)	missense	possibly damaging	0.77
R7437:Pkd1l2	UTSW	8	117,030,682 (GRCm38)	missense	probably damaging	0.96
R7492:Pkd1l2	UTSW	8	117,068,110 (GRCm38)	missense	probably damaging	1.00
R7496:Pkd1l2	UTSW	8	117,060,594 (GRCm38)	missense	possibly damaging	0.89
R7519:Pkd1l2	UTSW	8	117,065,529 (GRCm38)	missense	probably benign
R7590:Pkd1l2	UTSW	8	117,080,786 (GRCm38)	missense	probably benign	0.00
R7623:Pkd1l2	UTSW	8	117,029,645 (GRCm38)	missense	probably damaging	1.00
R7768:Pkd1l2	UTSW	8	117,054,860 (GRCm38)	critical splice donor site	probably null
R7897:Pkd1l2	UTSW	8	116,998,088 (GRCm38)	missense	possibly damaging	0.69
R7982:Pkd1l2	UTSW	8	117,051,187 (GRCm38)	missense	possibly damaging	0.70
R8024:Pkd1l2	UTSW	8	117,076,182 (GRCm38)	missense	possibly damaging	0.85
R8140:Pkd1l2	UTSW	8	117,047,497 (GRCm38)	missense	probably benign
R8145:Pkd1l2	UTSW	8	117,055,003 (GRCm38)	missense	probably benign
R8228:Pkd1l2	UTSW	8	117,065,775 (GRCm38)	missense	probably damaging	0.97
R8252:Pkd1l2	UTSW	8	117,040,733 (GRCm38)	missense	probably benign	0.29
R8500:Pkd1l2	UTSW	8	117,047,563 (GRCm38)	critical splice acceptor site	probably null
R8732:Pkd1l2	UTSW	8	117,065,572 (GRCm38)	missense	probably benign	0.28
R8809:Pkd1l2	UTSW	8	116,999,921 (GRCm38)	missense	probably damaging	1.00
R8896:Pkd1l2	UTSW	8	117,013,876 (GRCm38)	missense	possibly damaging	0.91
R8985:Pkd1l2	UTSW	8	117,038,110 (GRCm38)	missense	probably benign	0.01
R9008:Pkd1l2	UTSW	8	117,042,298 (GRCm38)	missense	probably benign	0.32
R9091:Pkd1l2	UTSW	8	117,032,694 (GRCm38)	missense	probably damaging	1.00
R9138:Pkd1l2	UTSW	8	117,055,009 (GRCm38)	missense	probably benign	0.43
R9160:Pkd1l2	UTSW	8	117,040,669 (GRCm38)	missense	possibly damaging	0.70
R9249:Pkd1l2	UTSW	8	117,019,420 (GRCm38)	missense	probably damaging	0.99
R9270:Pkd1l2	UTSW	8	117,032,694 (GRCm38)	missense	probably damaging	1.00
R9735:Pkd1l2	UTSW	8	117,046,081 (GRCm38)	missense	possibly damaging	0.94
Z1176:Pkd1l2	UTSW	8	117,054,914 (GRCm38)	missense	probably damaging	1.00
Z1177:Pkd1l2	UTSW	8	117,030,691 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATGATAAGAATGACGGCGAC -3'
(R):5'- TGCTACTATCATTCTTACCGCCA -3'

Sequencing Primer
(F):5'- GCGACAAAGCCTGAGATGTCAC -3'
(R):5'- ATCATTCTTACCGCCATCACCAC -3'

Posted On

2021-08-31