Mutagenetix > Incidental Mutation

Incidental Mutation 'R4762:Pkd2l1'

357000

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

042403-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R4762 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44136076-44180881 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44144060 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 338 (T338S)

Ref Sequence

ENSEMBL: ENSMUSP00000045675 (fasta)

Gene Model

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

AlphaFold

A2A259

Predicted Effect

probably benign
Transcript: ENSMUST00000042026
AA Change: T338S

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000045675
Gene: ENSMUSG00000037578
AA Change: T338S

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

0.1984

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

100% (86/86)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012P17Rik	T	C	1: 158,797,126 (GRCm39)		noncoding transcript	Het
2310030G06Rik	T	C	9: 50,651,967 (GRCm39)	E87G	probably damaging	Het
Aknad1	A	T	3: 108,682,547 (GRCm39)	H541L	possibly damaging	Het
Asb15	A	G	6: 24,567,236 (GRCm39)	E519G	possibly damaging	Het
Atad2	T	C	15: 57,971,758 (GRCm39)	D373G	probably benign	Het
Bbs12	G	A	3: 37,374,529 (GRCm39)	V326M	probably damaging	Het
Birc6	T	C	17: 74,936,484 (GRCm39)	I2617T	probably damaging	Het
Brca2	A	G	5: 150,454,581 (GRCm39)	T115A	probably benign	Het
Casz1	T	C	4: 149,023,438 (GRCm39)	L495P	probably damaging	Het
Ccdc30	T	A	4: 119,190,785 (GRCm39)	I481F	probably damaging	Het
Cept1	A	T	3: 106,446,677 (GRCm39)	Y56*	probably null	Het
Cfap54	A	C	10: 92,897,315 (GRCm39)		probably null	Het
Cyp2j8	G	T	4: 96,358,886 (GRCm39)	D344E	probably damaging	Het
Dido1	A	T	2: 180,331,368 (GRCm39)	W27R	probably damaging	Het
Disp3	A	G	4: 148,356,575 (GRCm39)	I95T	probably damaging	Het
Engase	G	T	11: 118,377,920 (GRCm39)	V237F	possibly damaging	Het
Ephb6	G	A	6: 41,595,094 (GRCm39)	E703K	probably damaging	Het
Fnip1	T	A	11: 54,356,997 (GRCm39)	F35L	probably damaging	Het
Fnip1	A	T	11: 54,390,352 (GRCm39)	T440S	probably benign	Het
Fras1	T	A	5: 96,879,477 (GRCm39)	H2431Q	probably benign	Het
Fzd4	A	T	7: 89,056,924 (GRCm39)	T324S	probably damaging	Het
Gm10192	C	G	4: 97,071,345 (GRCm39)	S20T	probably null	Het
Gpr84	A	T	15: 103,217,027 (GRCm39)	V350E	probably damaging	Het
Gsto2	T	C	19: 47,863,312 (GRCm39)	Y63H	probably damaging	Het
Gtpbp6	T	C	5: 110,252,186 (GRCm39)	T449A	probably damaging	Het
Herc2	G	A	7: 55,820,388 (GRCm39)	V2876I	probably benign	Het
Hnrnpa3	A	G	2: 75,492,351 (GRCm39)	I152V	possibly damaging	Het
Hpse2	T	C	19: 42,777,510 (GRCm39)	D552G	possibly damaging	Het
Itfg1	A	G	8: 86,459,070 (GRCm39)	V460A	possibly damaging	Het
Jhy	G	A	9: 40,822,494 (GRCm39)	A548V	probably benign	Het
Klhl21	T	A	4: 152,094,268 (GRCm39)	L290Q	possibly damaging	Het
Knl1	T	C	2: 118,902,417 (GRCm39)	S1373P	probably benign	Het
Kpna2	A	C	11: 106,881,085 (GRCm39)	M426R	probably benign	Het
Krt9	C	T	11: 100,081,675 (GRCm39)	V285I	probably damaging	Het
Lpar1	T	G	4: 58,437,346 (GRCm39)	H361P	possibly damaging	Het
Macf1	T	C	4: 123,349,237 (GRCm39)	T2100A	probably benign	Het
Mfsd13b	T	C	7: 120,590,549 (GRCm39)	F97L	probably damaging	Het
Mmp15	A	G	8: 96,098,958 (GRCm39)	K595R	probably benign	Het
Mrps25	C	T	6: 92,152,085 (GRCm39)	G145D	probably damaging	Het
Muc4	T	A	16: 32,574,916 (GRCm39)		probably benign	Het
Napa	A	T	7: 15,849,196 (GRCm39)	K245N	probably benign	Het
Or10p1	C	A	10: 129,444,043 (GRCm39)	M102I	probably damaging	Het
Or14c39	A	G	7: 86,344,329 (GRCm39)	T222A	probably benign	Het
Or2y1c	A	T	11: 49,361,112 (GRCm39)	I45F	probably damaging	Het
Or4g17	G	A	2: 111,210,082 (GRCm39)	V246M	probably damaging	Het
Or4k39	T	A	2: 111,239,225 (GRCm39)		noncoding transcript	Het
Or5au1	T	A	14: 52,272,921 (GRCm39)	I216F	possibly damaging	Het
Or8c20	A	G	9: 38,260,577 (GRCm39)	Y60C	probably damaging	Het
Or8k35	A	G	2: 86,424,381 (GRCm39)	S264P	possibly damaging	Het
Papss2	A	T	19: 32,616,378 (GRCm39)	T195S	probably benign	Het
Parp4	T	A	14: 56,848,267 (GRCm39)	H694Q	probably damaging	Het
Patj	C	T	4: 98,293,807 (GRCm39)	R20*	probably null	Het
Pcdhgb8	T	A	18: 37,895,419 (GRCm39)	V163E	probably damaging	Het
Ppargc1b	A	T	18: 61,444,328 (GRCm39)	S278R	possibly damaging	Het
Ppl	T	C	16: 4,906,846 (GRCm39)	T1150A	probably benign	Het
Ralgds	A	G	2: 28,442,164 (GRCm39)	D858G	probably damaging	Het
Rassf2	G	A	2: 131,844,783 (GRCm39)		probably benign	Het
Ring1	T	C	17: 34,240,971 (GRCm39)		probably benign	Het
Rusc1	A	C	3: 88,998,949 (GRCm39)	S278A	probably benign	Het
Samd9l	T	C	6: 3,375,623 (GRCm39)	N546S	probably benign	Het
Sct	A	C	7: 140,858,954 (GRCm39)		probably benign	Het
Slc22a12	T	G	19: 6,588,474 (GRCm39)	H348P	probably benign	Het
Slc25a15	A	G	8: 22,873,248 (GRCm39)	S143P	probably damaging	Het
Slc26a11	C	A	11: 119,247,657 (GRCm39)		probably benign	Het
Slc6a20b	A	G	9: 123,427,625 (GRCm39)	M428T	probably damaging	Het
Smim17	G	A	7: 6,432,321 (GRCm39)	V88M	probably damaging	Het
Smoc1	G	T	12: 81,214,425 (GRCm39)	W269L	probably damaging	Het
Sox5	C	T	6: 143,807,109 (GRCm39)		probably null	Het
Sp100	A	G	1: 85,629,179 (GRCm39)	*483W	probably null	Het
Sptbn5	T	A	2: 119,907,703 (GRCm39)		noncoding transcript	Het
Sun5	G	A	2: 153,707,283 (GRCm39)	R132*	probably null	Het
Tedc2	A	G	17: 24,435,354 (GRCm39)	V345A	probably benign	Het
Tlr6	T	A	5: 65,111,739 (GRCm39)	R389S	probably benign	Het
Ttc17	G	T	2: 94,202,113 (GRCm39)	H396Q	probably damaging	Het
Ttn	A	G	2: 76,773,383 (GRCm39)	S2340P	probably damaging	Het
Vmn1r219	C	T	13: 23,346,999 (GRCm39)	Q63*	probably null	Het
Vmn1r224	A	G	17: 20,639,902 (GRCm39)	T160A	possibly damaging	Het
Vmn2r11	T	C	5: 109,195,436 (GRCm39)	N630S	probably damaging	Het
Zfp1005	T	A	2: 150,109,549 (GRCm39)	C80S	possibly damaging	Het
Zfp747	A	G	7: 126,973,498 (GRCm39)	V224A	possibly damaging	Het
Zfp804b	T	C	5: 6,822,250 (GRCm39)	N271S	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
R4614:Pkd2l1	UTSW	19	44,142,573 (GRCm39)	missense	probably damaging	0.99
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
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'- AGGAAGAACTCAGATGCCCC -3'
(R):5'- GCTCATCTGACTTGCTTGAAACC -3'

Sequencing Primer
(F):5'- AGCAGAGTCCCTCCAGTATG -3'
(R):5'- GCTTGAAACCTTTCCCTACCAGG -3'

Posted On

2015-11-11