Mutagenetix > Incidental Mutation

Incidental Mutation 'R4614:Pkd2l1'

344991

Institutional Source

Beutler Lab

Gene Symbol

Pkd2l1

Ensembl Gene

ENSMUSG00000037578

Gene Name

polycystic kidney disease 2-like 1

Synonyms

PKD2L, polycystin-L, PCL, TRPP3, Pkdl

MMRRC Submission

041825-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R4614 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44136076-44180881 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 44142573 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 490 (A490S)

Ref Sequence

ENSEMBL: ENSMUSP00000045675 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042026]

AlphaFold

A2A259

Predicted Effect

probably damaging
Transcript: ENSMUST00000042026
AA Change: A490S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000045675
Gene: ENSMUSG00000037578
AA Change: A490S

Domain	Start	End	E-Value	Type
transmembrane domain	105	127	N/A	INTRINSIC
Pfam:PKD_channel	145	567	1.3e-172	PFAM
Pfam:Ion_trans	335	572	1.8e-30	PFAM
low complexity region	592	598	N/A	INTRINSIC
SCOP:d2pvba_	616	676	2e-4	SMART
PDB:4GIF\|A	698	739	1e-17	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161357

Meta Mutation Damage Score

0.4214

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (95/97)

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 multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. This protein functions as a calcium-regulated nonselective cation channel. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased chorda tympani nerve response to sour tastants. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	G	13: 77,402,375 (GRCm39)		probably null	Het
4932414N04Rik	C	A	2: 68,575,804 (GRCm39)	T701K	probably benign	Het
Abcb11	A	T	2: 69,115,025 (GRCm39)	H640Q	possibly damaging	Het
Ago2	C	T	15: 73,002,816 (GRCm39)	V139M	probably damaging	Het
Apol11a	A	T	15: 77,400,772 (GRCm39)	K86N	probably benign	Het
Ass1	T	C	2: 31,404,795 (GRCm39)	Y359H	probably damaging	Het
Bpifa3	A	T	2: 153,978,200 (GRCm39)	N34I	probably damaging	Het
Brwd1	A	T	16: 95,848,559 (GRCm39)	L540H	probably damaging	Het
C3ar1	G	A	6: 122,827,680 (GRCm39)	S179F	probably benign	Het
Ccnb1ip1	T	C	14: 51,029,652 (GRCm39)	T137A	probably benign	Het
Cd5l	A	G	3: 87,275,926 (GRCm39)	T299A	probably benign	Het
Cdk12	T	A	11: 98,140,603 (GRCm39)		probably benign	Het
Cep290	T	C	10: 100,344,602 (GRCm39)	M480T	probably benign	Het
Cep290	G	A	10: 100,395,549 (GRCm39)	R2112K	possibly damaging	Het
Chn2	G	A	6: 54,267,388 (GRCm39)	M292I	probably damaging	Het
Cic	TCCCCC	TCCCCCCC	7: 24,991,095 (GRCm39)		probably null	Het
Cpeb1	A	T	7: 81,086,018 (GRCm39)	D41E	possibly damaging	Het
Csf2rb2	C	G	15: 78,175,902 (GRCm39)	C184S	probably damaging	Het
Ctsc	G	A	7: 87,927,583 (GRCm39)		probably null	Het
Cyp2c40	G	A	19: 39,792,300 (GRCm39)	S191L	probably damaging	Het
Dagla	T	C	19: 10,225,641 (GRCm39)	E841G	probably damaging	Het
Dld	A	T	12: 31,383,944 (GRCm39)	Y386*	probably null	Het
Dpp8	G	A	9: 64,973,678 (GRCm39)	S634N	probably benign	Het
Duox2	A	T	2: 122,120,038 (GRCm39)	V824E	probably damaging	Het
Dync2h1	A	C	9: 7,011,290 (GRCm39)	S3634R	probably benign	Het
Eef1d	T	C	15: 75,775,425 (GRCm39)	N78S	probably benign	Het
Fcrl5	T	A	3: 87,355,733 (GRCm39)	I482N	probably damaging	Het
Fezf1	A	T	6: 23,247,857 (GRCm39)	C73S	possibly damaging	Het
Fgfr1	A	G	8: 26,047,813 (GRCm39)	D53G	probably benign	Het
Fmn1	T	C	2: 113,195,494 (GRCm39)	L398S	unknown	Het
Gm17175	T	C	14: 51,809,042 (GRCm39)	Q108R	probably benign	Het
Gm28042	G	A	2: 119,871,639 (GRCm39)	G669D	probably damaging	Het
Gm6185	A	G	1: 161,050,669 (GRCm39)		noncoding transcript	Het
Gucy2g	A	T	19: 55,190,579 (GRCm39)	C1018*	probably null	Het
H2-Q10	A	T	17: 35,784,917 (GRCm39)		probably benign	Het
H2-T22	T	G	17: 36,351,429 (GRCm39)	Q267P	probably benign	Het
Hibadh	A	G	6: 52,523,915 (GRCm39)	Y328H	possibly damaging	Het
Hsd3b3	T	A	3: 98,649,396 (GRCm39)	Y309F	probably benign	Het
Ighv1-37	C	T	12: 114,859,863 (GRCm39)	A116T	probably benign	Het
Ighv1-82	T	C	12: 115,916,280 (GRCm39)	T77A	probably benign	Het
Igkv8-21	A	T	6: 70,292,141 (GRCm39)	S34T	probably benign	Het
Insyn1	AGAGGAGGAGGAGGAGG	AGAGGAGGAGGAGG	9: 58,406,715 (GRCm39)		probably benign	Het
Iqch	A	G	9: 63,389,863 (GRCm39)	M733T	probably benign	Het
Jakmip2	T	A	18: 43,695,657 (GRCm39)	D539V	probably damaging	Het
Lgi2	A	G	5: 52,695,775 (GRCm39)	S395P	probably damaging	Het
Lrrc40	A	T	3: 157,760,271 (GRCm39)	N344I	probably damaging	Het
Ltbp1	G	A	17: 75,596,989 (GRCm39)		probably benign	Het
Metap1d	C	T	2: 71,355,292 (GRCm39)	P332L	probably benign	Het
Mfap4	C	A	11: 61,376,335 (GRCm39)		probably benign	Het
Mis18bp1	T	A	12: 65,200,303 (GRCm39)		probably benign	Het
Mta2	T	C	19: 8,925,492 (GRCm39)		probably null	Het
Mtmr4	T	C	11: 87,501,761 (GRCm39)	L548S	probably damaging	Het
Muc4	A	G	16: 32,577,432 (GRCm39)	K241E	probably benign	Het
Mup18	T	A	4: 61,590,154 (GRCm39)	I125F	possibly damaging	Het
Nfs1	A	G	2: 155,985,970 (GRCm39)	S31P	probably benign	Het
Or10g6	T	A	9: 39,934,255 (GRCm39)	C189S	probably damaging	Het
Or10z1	A	G	1: 174,078,188 (GRCm39)	F102L	possibly damaging	Het
Or2f1b	G	T	6: 42,739,352 (GRCm39)	R122L	probably benign	Het
Otogl	A	T	10: 107,727,985 (GRCm39)	C245*	probably null	Het
Pcdhb16	G	A	18: 37,613,398 (GRCm39)	G786D	probably benign	Het
Pdcd5	C	T	7: 35,346,472 (GRCm39)		probably benign	Het
Phkg2	C	T	7: 127,176,792 (GRCm39)	R61W	probably damaging	Het
Piezo1	A	T	8: 123,213,150 (GRCm39)	I1871N	probably benign	Het
Plxnd1	T	C	6: 115,949,486 (GRCm39)	T767A	possibly damaging	Het
Polr3c	T	G	3: 96,623,787 (GRCm39)	I322L	probably benign	Het
Ppp1r26	C	A	2: 28,340,860 (GRCm39)	H163Q	probably benign	Het
Prox1	T	G	1: 189,894,205 (GRCm39)	Y80S	probably damaging	Het
Pygl	T	C	12: 70,257,753 (GRCm39)		probably null	Het
Rab23	T	C	1: 33,778,466 (GRCm39)	V236A	probably benign	Het
Setd2	T	C	9: 110,398,881 (GRCm39)		probably null	Het
Slc5a7	A	G	17: 54,583,587 (GRCm39)	S568P	probably benign	Het
Smpd3	A	G	8: 106,986,371 (GRCm39)	L477P	probably damaging	Het
Spg21	A	G	9: 65,387,671 (GRCm39)		probably null	Het
Spta1	A	T	1: 174,020,543 (GRCm39)	I551F	probably damaging	Het
Supt5	A	T	7: 28,025,397 (GRCm39)	I135N	possibly damaging	Het
Tacstd2	A	G	6: 67,512,170 (GRCm39)	F174S	probably damaging	Het
Tas1r2	A	T	4: 139,387,098 (GRCm39)	T186S	probably damaging	Het
Tie1	A	G	4: 118,336,248 (GRCm39)	Y673H	probably damaging	Het
Tom1l1	A	T	11: 90,561,952 (GRCm39)	N190K	probably damaging	Het
Tox2	T	C	2: 163,162,567 (GRCm39)	L479P	probably damaging	Het
Tox4	C	T	14: 52,524,924 (GRCm39)	T249I	probably damaging	Het
Trmt1l	C	T	1: 151,329,799 (GRCm39)	Q581*	probably null	Het
Vmn1r49	A	G	6: 90,049,534 (GRCm39)	V156A	probably benign	Het
Vmn2r13	A	T	5: 109,323,065 (GRCm39)	F75I	probably benign	Het
Washc2	T	A	6: 116,215,135 (GRCm39)	S502T	possibly damaging	Het
Wnk4	A	T	11: 101,164,937 (GRCm39)	E755D	probably benign	Het
Zfp207	T	A	11: 80,286,016 (GRCm39)		probably benign	Het
Zfp352	A	G	4: 90,113,318 (GRCm39)	K486R	probably benign	Het

Other mutations in Pkd2l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Pkd2l1	APN	19	44,146,075 (GRCm39)	critical splice donor site	probably null
IGL00426:Pkd2l1	APN	19	44,144,044 (GRCm39)	missense	probably benign	0.21
IGL00848:Pkd2l1	APN	19	44,180,718 (GRCm39)	utr 5 prime	probably benign
IGL01315:Pkd2l1	APN	19	44,180,635 (GRCm39)	missense	probably benign	0.09
IGL01654:Pkd2l1	APN	19	44,142,662 (GRCm39)	missense	probably damaging	0.98
IGL01786:Pkd2l1	APN	19	44,179,881 (GRCm39)	missense	probably damaging	0.96
IGL02174:Pkd2l1	APN	19	44,145,707 (GRCm39)	missense	probably benign	0.04
IGL02648:Pkd2l1	APN	19	44,143,975 (GRCm39)	missense	possibly damaging	0.72
R0654:Pkd2l1	UTSW	19	44,146,070 (GRCm39)	splice site	probably null
R0762:Pkd2l1	UTSW	19	44,138,909 (GRCm39)	missense	probably benign	0.19
R0981:Pkd2l1	UTSW	19	44,142,861 (GRCm39)	critical splice donor site	probably null
R1114:Pkd2l1	UTSW	19	44,179,983 (GRCm39)	splice site	probably benign
R1381:Pkd2l1	UTSW	19	44,138,902 (GRCm39)	missense	probably benign	0.08
R1467:Pkd2l1	UTSW	19	44,142,648 (GRCm39)	missense	possibly damaging	0.91
R1467:Pkd2l1	UTSW	19	44,142,648 (GRCm39)	missense	possibly damaging	0.91
R1754:Pkd2l1	UTSW	19	44,144,040 (GRCm39)	nonsense	probably null
R2009:Pkd2l1	UTSW	19	44,144,403 (GRCm39)	missense	probably benign	0.01
R2125:Pkd2l1	UTSW	19	44,142,939 (GRCm39)	missense	possibly damaging	0.91
R2696:Pkd2l1	UTSW	19	44,145,708 (GRCm39)	missense	probably benign	0.01
R3001:Pkd2l1	UTSW	19	44,143,996 (GRCm39)	missense	possibly damaging	0.81
R3002:Pkd2l1	UTSW	19	44,143,996 (GRCm39)	missense	possibly damaging	0.81
R3701:Pkd2l1	UTSW	19	44,145,666 (GRCm39)	missense	probably damaging	0.99
R4179:Pkd2l1	UTSW	19	44,180,620 (GRCm39)	missense	probably benign	0.01
R4180:Pkd2l1	UTSW	19	44,180,620 (GRCm39)	missense	probably benign	0.01
R4616:Pkd2l1	UTSW	19	44,142,573 (GRCm39)	missense	probably damaging	0.99
R4617:Pkd2l1	UTSW	19	44,142,573 (GRCm39)	missense	probably damaging	0.99
R4618:Pkd2l1	UTSW	19	44,142,573 (GRCm39)	missense	probably damaging	0.99
R4762:Pkd2l1	UTSW	19	44,144,060 (GRCm39)	missense	probably benign	0.09
R4893:Pkd2l1	UTSW	19	44,142,210 (GRCm39)	missense	probably benign	0.00
R4907:Pkd2l1	UTSW	19	44,142,581 (GRCm39)	missense	possibly damaging	0.95
R5004:Pkd2l1	UTSW	19	44,138,016 (GRCm39)	missense	probably benign	0.00
R5380:Pkd2l1	UTSW	19	44,146,171 (GRCm39)	missense	probably benign	0.33
R5480:Pkd2l1	UTSW	19	44,180,595 (GRCm39)	missense	probably benign	0.18
R5950:Pkd2l1	UTSW	19	44,140,529 (GRCm39)	missense	probably benign	0.27
R6248:Pkd2l1	UTSW	19	44,146,108 (GRCm39)	missense	probably benign	0.00
R6908:Pkd2l1	UTSW	19	44,140,885 (GRCm39)	missense	probably damaging	1.00
R6925:Pkd2l1	UTSW	19	44,179,947 (GRCm39)	missense	possibly damaging	0.92
R7021:Pkd2l1	UTSW	19	44,142,647 (GRCm39)	missense	probably damaging	0.98
R7322:Pkd2l1	UTSW	19	44,146,129 (GRCm39)	missense	probably benign	0.00
R7378:Pkd2l1	UTSW	19	44,142,154 (GRCm39)	missense	probably benign	0.05
R7442:Pkd2l1	UTSW	19	44,145,668 (GRCm39)	missense	probably benign	0.01
R7636:Pkd2l1	UTSW	19	44,179,870 (GRCm39)	missense	possibly damaging	0.70
R7954:Pkd2l1	UTSW	19	44,142,651 (GRCm39)	missense	probably benign	0.15
R7989:Pkd2l1	UTSW	19	44,142,507 (GRCm39)	missense	probably benign	0.10
R9007:Pkd2l1	UTSW	19	44,140,864 (GRCm39)	missense	possibly damaging	0.49
R9245:Pkd2l1	UTSW	19	44,143,894 (GRCm39)	missense	probably benign	0.33
R9675:Pkd2l1	UTSW	19	44,137,696 (GRCm39)	missense	probably benign	0.00
X0026:Pkd2l1	UTSW	19	44,145,621 (GRCm39)	missense	probably damaging	1.00
Z1176:Pkd2l1	UTSW	19	44,137,710 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGGGAAATTACTCGAGAGC -3'
(R):5'- TCTGTCCGTTCCTGGAGTAG -3'

Sequencing Primer
(F):5'- GCAGCTGCACTCAGATACCTTTAAG -3'
(R):5'- CCGTTCCTGGAGTAGTCTATGC -3'

Posted On

2015-09-25