Mutagenetix > Incidental Mutation

Incidental Mutation 'R1754:Pkd2l1'

193900

Institutional Source

Beutler Lab

Gene Symbol

Pkd2l1

Ensembl Gene

ENSMUSG00000037578

Gene Name

polycystic kidney disease 2-like 1

Synonyms

PCL, PKD2L, Pkdl, polycystin-L, TRPP3

MMRRC Submission

039786-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R1754 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44147637-44192442 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 44155601 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 344 (Y344*)

Ref Sequence

ENSEMBL: ENSMUSP00000045675 (fasta)

Gene Model

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

AlphaFold

A2A259

Predicted Effect

probably null
Transcript: ENSMUST00000042026
AA Change: Y344*

SMART Domains

Protein: ENSMUSP00000045675
Gene: ENSMUSG00000037578
AA Change: Y344*

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

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.3%

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 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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563D23Rik	A	G	16: 92,321,031	V123A	probably damaging	Het
Abca2	T	A	2: 25,434,333	L234M	probably benign	Het
Abca3	G	A	17: 24,377,779	S402N	probably benign	Het
Acad12	A	T	5: 121,607,481	V249D	probably benign	Het
Acp4	T	C	7: 44,255,004	I212V	probably benign	Het
Actl6a	T	A	3: 32,718,574	V233D	probably damaging	Het
Aire	T	A	10: 78,030,290	Q533L	probably damaging	Het
Aldh3b3	T	C	19: 3,968,517	S411P	probably benign	Het
Amer2	A	G	14: 60,379,757	K467R	probably damaging	Het
Apol9b	A	T	15: 77,735,762	I253F	probably benign	Het
Arid1b	A	G	17: 5,279,201		probably null	Het
Atp6v0a4	T	C	6: 38,067,829	T494A	probably benign	Het
Atp6v1b2	A	G	8: 69,101,961	D106G	probably benign	Het
Avpr1b	T	C	1: 131,600,101	S121P	probably damaging	Het
Bcl11a	A	C	11: 24,164,724	E689A	probably damaging	Het
Brpf3	T	G	17: 28,821,323	L906R	probably benign	Het
Btn1a1	T	C	13: 23,460,468	K287E	probably benign	Het
Cacna1i	A	G	15: 80,371,529	H871R	probably damaging	Het
Cd14	A	T	18: 36,725,514	L296Q	probably damaging	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Colgalt1	G	T	8: 71,623,179	W490L	probably damaging	Het
Ctnna2	A	G	6: 77,636,749	I273T	possibly damaging	Het
Dnah7a	A	T	1: 53,504,185	D2275E	probably benign	Het
Dnah7a	A	C	1: 53,561,900		probably null	Het
Egfem1	T	C	3: 29,668,333	Y404H	possibly damaging	Het
Esm1	A	T	13: 113,216,696	N171Y	probably damaging	Het
Exoc1	T	G	5: 76,560,322		probably null	Het
Fcho1	A	G	8: 71,711,246	I580T	probably benign	Het
Fgfr1	A	G	8: 25,570,210	H552R	probably damaging	Het
Fsbp	A	G	4: 11,583,906	R202G	probably damaging	Het
Gabra6	A	G	11: 42,316,561	V231A	probably damaging	Het
Gm8765	A	T	13: 50,701,087	T254S	probably damaging	Het
Gmeb1	A	G	4: 132,232,027	S239P	probably benign	Het
Gnpat	T	A	8: 124,877,006	Y208N	probably damaging	Het
Il21	T	C	3: 37,225,525	K114R	possibly damaging	Het
Inhbc	T	C	10: 127,370,293	D35G	possibly damaging	Het
Inpp4b	A	T	8: 81,770,811	T87S	probably damaging	Het
Kcns2	T	C	15: 34,839,517	I342T	possibly damaging	Het
Ky	A	T	9: 102,541,927	T378S	possibly damaging	Het
Lcat	CAT	C	8: 105,941,814		probably null	Het
Lrrc8d	T	C	5: 105,812,657	V311A	probably benign	Het
Mief1	A	G	15: 80,249,602	I287V	probably damaging	Het
Mrpl47	A	G	3: 32,730,084	V179A	probably benign	Het
Mtcl1	T	C	17: 66,380,183	K576R	probably damaging	Het
Myh10	C	A	11: 68,813,058	A1902E	probably damaging	Het
Nlrp3	A	G	11: 59,558,402	T837A	possibly damaging	Het
Nr1i3	T	C	1: 171,217,394	Y132H	probably damaging	Het
Oit3	T	C	10: 59,427,940		probably null	Het
Olfr1186	A	T	2: 88,525,815	R77S	probably damaging	Het
Olfr1467	T	C	19: 13,365,353	S242P	probably damaging	Het
Olfr193	T	A	16: 59,110,581	I10F	probably benign	Het
Olfr30	A	T	11: 58,455,262	M229K	probably damaging	Het
Olfr427	A	G	1: 174,100,033	T192A	probably benign	Het
Olfr533	A	T	7: 140,466,860	I220F	probably damaging	Het
Olfr8	T	A	10: 78,955,697	V164E	probably damaging	Het
Olfr825	G	A	10: 130,163,164	T54I	probably benign	Het
Pdlim4	T	C	11: 54,055,873	E196G	possibly damaging	Het
Pigs	A	G	11: 78,337,847	Y293C	probably damaging	Het
Pkd1l2	A	T	8: 117,030,719	S1527T	possibly damaging	Het
Pmp2	T	C	3: 10,182,224		probably null	Het
Polr3e	T	C	7: 120,939,298		probably null	Het
Ppp3ca	C	G	3: 136,881,448	I230M	probably benign	Het
Ppp5c	T	C	7: 17,005,310	H463R	probably benign	Het
Ptger1	A	G	8: 83,669,297	N328D	probably benign	Het
Rhno1	A	T	6: 128,357,859	I167N	probably benign	Het
Rictor	C	A	15: 6,735,368	P34H	probably damaging	Het
Rnf10	A	C	5: 115,245,865	S630R	probably damaging	Het
Rnf168	A	G	16: 32,299,124	Q501R	probably benign	Het
Rngtt	T	G	4: 33,329,634		probably null	Het
Samd9l	G	T	6: 3,373,126	F1378L	probably damaging	Het
Slc9c1	T	A	16: 45,589,509	M864K	probably benign	Het
Slitrk5	T	C	14: 111,680,519	F525S	probably damaging	Het
Sox6	T	C	7: 115,477,055	M784V	probably benign	Het
Spint2	C	T	7: 29,260,366		probably null	Het
Ssh1	A	T	5: 113,955,845	I276N	probably damaging	Het
Trank1	T	A	9: 111,392,871	V2892D	probably benign	Het
Ttn	C	A	2: 76,751,040	E21424*	probably null	Het
Usp17lc	T	C	7: 103,418,848	I450T	probably benign	Het
Vcan	A	G	13: 89,704,735	V702A	probably benign	Het
Vmn1r36	TA	TAA	6: 66,716,533		probably null	Het
Vmn2r51	G	T	7: 10,099,946	D388E	probably benign	Het
Zfp106	G	A	2: 120,533,763	S721L	probably damaging	Het
Zfp106	A	C	2: 120,533,764	S721A	probably damaging	Het
Zfp189	T	A	4: 49,529,342	H148Q	possibly damaging	Het
Zfp352	A	T	4: 90,223,809	Y62F	probably benign	Het
Zfp839	T	C	12: 110,855,457	V235A	probably damaging	Het
Zfp871	T	C	17: 32,775,334	Y289C	probably damaging	Het

Other mutations in Pkd2l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Pkd2l1	APN	19	44157636	critical splice donor site	probably null
IGL00426:Pkd2l1	APN	19	44155605	missense	probably benign	0.21
IGL00848:Pkd2l1	APN	19	44192279	utr 5 prime	probably benign
IGL01315:Pkd2l1	APN	19	44192196	missense	probably benign	0.09
IGL01654:Pkd2l1	APN	19	44154223	missense	probably damaging	0.98
IGL01786:Pkd2l1	APN	19	44191442	missense	probably damaging	0.96
IGL02174:Pkd2l1	APN	19	44157268	missense	probably benign	0.04
IGL02648:Pkd2l1	APN	19	44155536	missense	possibly damaging	0.72
R0654:Pkd2l1	UTSW	19	44157631	splice site	probably null
R0762:Pkd2l1	UTSW	19	44150470	missense	probably benign	0.19
R0981:Pkd2l1	UTSW	19	44154422	critical splice donor site	probably null
R1114:Pkd2l1	UTSW	19	44191544	splice site	probably benign
R1381:Pkd2l1	UTSW	19	44150463	missense	probably benign	0.08
R1467:Pkd2l1	UTSW	19	44154209	missense	possibly damaging	0.91
R1467:Pkd2l1	UTSW	19	44154209	missense	possibly damaging	0.91
R2009:Pkd2l1	UTSW	19	44155964	missense	probably benign	0.01
R2125:Pkd2l1	UTSW	19	44154500	missense	possibly damaging	0.91
R2696:Pkd2l1	UTSW	19	44157269	missense	probably benign	0.01
R3001:Pkd2l1	UTSW	19	44155557	missense	possibly damaging	0.81
R3002:Pkd2l1	UTSW	19	44155557	missense	possibly damaging	0.81
R3701:Pkd2l1	UTSW	19	44157227	missense	probably damaging	0.99
R4179:Pkd2l1	UTSW	19	44192181	missense	probably benign	0.01
R4180:Pkd2l1	UTSW	19	44192181	missense	probably benign	0.01
R4614:Pkd2l1	UTSW	19	44154134	missense	probably damaging	0.99
R4616:Pkd2l1	UTSW	19	44154134	missense	probably damaging	0.99
R4617:Pkd2l1	UTSW	19	44154134	missense	probably damaging	0.99
R4618:Pkd2l1	UTSW	19	44154134	missense	probably damaging	0.99
R4762:Pkd2l1	UTSW	19	44155621	missense	probably benign	0.09
R4893:Pkd2l1	UTSW	19	44153771	missense	probably benign	0.00
R4907:Pkd2l1	UTSW	19	44154142	missense	possibly damaging	0.95
R5004:Pkd2l1	UTSW	19	44149577	missense	probably benign	0.00
R5380:Pkd2l1	UTSW	19	44157732	missense	probably benign	0.33
R5480:Pkd2l1	UTSW	19	44192156	missense	probably benign	0.18
R5950:Pkd2l1	UTSW	19	44152090	missense	probably benign	0.27
R6248:Pkd2l1	UTSW	19	44157669	missense	probably benign	0.00
R6908:Pkd2l1	UTSW	19	44152446	missense	probably damaging	1.00
R6925:Pkd2l1	UTSW	19	44191508	missense	possibly damaging	0.92
R7021:Pkd2l1	UTSW	19	44154208	missense	probably damaging	0.98
R7322:Pkd2l1	UTSW	19	44157690	missense	probably benign	0.00
R7378:Pkd2l1	UTSW	19	44153715	missense	probably benign	0.05
R7442:Pkd2l1	UTSW	19	44157229	missense	probably benign	0.01
R7636:Pkd2l1	UTSW	19	44191431	missense	possibly damaging	0.70
R7954:Pkd2l1	UTSW	19	44154212	missense	probably benign	0.15
R7989:Pkd2l1	UTSW	19	44154068	missense	probably benign	0.10
R9007:Pkd2l1	UTSW	19	44152425	missense	possibly damaging	0.49
R9245:Pkd2l1	UTSW	19	44155455	missense	probably benign	0.33
R9675:Pkd2l1	UTSW	19	44149257	missense	probably benign	0.00
X0026:Pkd2l1	UTSW	19	44157182	missense	probably damaging	1.00
Z1176:Pkd2l1	UTSW	19	44149271	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAAGCAGAGTCCCTCCAGTATGCC -3'
(R):5'- CGACTTCTCCGTCTACAATGCCAAC -3'

Sequencing Primer
(F):5'- CCAGTATGCCCCACGTC -3'
(R):5'- TGTATTCTGAGGTAAGCACCC -3'

Posted On

2014-05-23