Mutagenetix > Incidental Mutation

Incidental Mutation 'R5950:Pkd2l1'

472427

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

044140-MU

Accession Numbers

Essential gene?

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

Stock #

R5950 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44136076-44180881 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 44140529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 608 (V608G)

Ref Sequence

ENSEMBL: ENSMUSP00000045675 (fasta)

Gene Model

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

AlphaFold

A2A259

Predicted Effect

probably benign
Transcript: ENSMUST00000042026
AA Change: V608G

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000045675
Gene: ENSMUSG00000037578
AA Change: V608G

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

0.0727

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

93% (75/81)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	G	A	7: 119,981,879 (GRCm39)	G1065R	probably damaging	Het
Acox2	A	T	14: 8,255,793 (GRCm38)	Y113N	probably benign	Het
Arid4b	T	A	13: 14,365,849 (GRCm39)		probably benign	Het
Atf6	C	T	1: 170,662,448 (GRCm39)	G271R	probably damaging	Het
Bnip5	T	A	17: 29,124,729 (GRCm39)	Q256L	possibly damaging	Het
Cct8l1	C	A	5: 25,722,741 (GRCm39)	F485L	probably benign	Het
Cdk5r2	A	G	1: 74,894,561 (GRCm39)	E102G	probably damaging	Het
Celsr1	A	T	15: 85,916,701 (GRCm39)	V424E	probably damaging	Het
Ces1h	T	C	8: 94,089,587 (GRCm39)	T271A	probably benign	Het
Cfap44	T	C	16: 44,300,210 (GRCm39)	I1738T	probably damaging	Het
Cntnap3	G	A	13: 64,935,583 (GRCm39)	L427F	probably damaging	Het
Crybg3	T	C	16: 59,313,934 (GRCm39)		probably benign	Het
Dis3l2	A	G	1: 86,948,830 (GRCm39)	D589G	probably damaging	Het
Dlg1	A	G	16: 31,484,401 (GRCm39)	R10G	probably damaging	Het
Dnajc1	A	C	2: 18,311,752 (GRCm39)		probably benign	Het
Dpy19l2	T	A	9: 24,492,430 (GRCm39)	T723S	probably benign	Het
Dsg3	A	T	18: 20,671,586 (GRCm39)	N764Y	probably damaging	Het
Dst	G	T	1: 34,301,141 (GRCm39)	R3654L	probably damaging	Het
Dynlt5	T	G	4: 102,861,447 (GRCm39)	L147R	probably damaging	Het
Evl	C	T	12: 108,641,812 (GRCm39)	T198I	probably benign	Het
Hectd2	A	G	19: 36,574,639 (GRCm39)		probably benign	Het
Hsp90b1	A	G	10: 86,537,609 (GRCm39)	V232A	possibly damaging	Het
Igsf5	T	C	16: 96,174,072 (GRCm39)	V34A	probably benign	Het
Ikzf2	A	T	1: 69,722,403 (GRCm39)	N41K	probably damaging	Het
Kif6	G	T	17: 50,022,116 (GRCm39)	A339S	probably damaging	Het
Klhl1	T	A	14: 96,477,790 (GRCm39)	D426V	probably damaging	Het
Knop1	A	C	7: 118,452,557 (GRCm39)	V54G	probably damaging	Het
Lama4	T	A	10: 38,906,444 (GRCm39)	V270D	probably benign	Het
Lnx2	A	G	5: 146,961,160 (GRCm39)		probably null	Het
Lrp5	A	T	19: 3,652,333 (GRCm39)	V1179E	probably benign	Het
Lrpprc	T	G	17: 85,047,598 (GRCm39)	D878A	possibly damaging	Het
Lrrc14	A	T	15: 76,599,510 (GRCm39)		probably benign	Het
Ltbp1	A	T	17: 75,580,865 (GRCm39)	D660V	probably damaging	Het
Macf1	C	G	4: 123,333,229 (GRCm39)		probably null	Het
Map3k21	C	A	8: 126,668,499 (GRCm39)	T695K	possibly damaging	Het
Mcm3ap	T	A	10: 76,324,253 (GRCm39)	D895E	possibly damaging	Het
Mink1	T	A	11: 70,500,412 (GRCm39)	D779E	possibly damaging	Het
Mkrn3	T	C	7: 62,069,467 (GRCm39)	E108G	probably damaging	Het
Mtcl3	T	C	10: 29,019,644 (GRCm39)		probably benign	Het
Nars1	A	G	18: 64,643,556 (GRCm39)	V141A	possibly damaging	Het
Or8g34	T	C	9: 39,373,633 (GRCm39)	V299A	probably benign	Het
Pard3b	T	A	1: 62,255,690 (GRCm39)	Y572N	probably benign	Het
Pcnx3	A	C	19: 5,717,186 (GRCm39)	M1599R	possibly damaging	Het
Pitx2	A	G	3: 129,012,169 (GRCm39)	S180G	probably damaging	Het
Pkhd1l1	A	G	15: 44,396,361 (GRCm39)	D1961G	probably benign	Het
Pxylp1	T	C	9: 96,721,179 (GRCm39)	T109A	probably damaging	Het
Rai1	T	A	11: 60,078,419 (GRCm39)	C828S	probably damaging	Het
Ralgapa1	T	A	12: 55,785,050 (GRCm39)	T737S	possibly damaging	Het
Scn11a	A	G	9: 119,640,190 (GRCm39)	V235A	probably damaging	Het
Sfxn1	A	T	13: 54,245,306 (GRCm39)	T134S	probably benign	Het
Skint1	A	G	4: 111,876,532 (GRCm39)	Y151C	probably benign	Het
Slc11a1	G	T	1: 74,416,335 (GRCm39)	W54L	probably benign	Het
Slc49a3	A	T	5: 108,593,351 (GRCm39)	H162Q	probably damaging	Het
Synpo2l	T	A	14: 20,716,003 (GRCm39)	Q191L	probably benign	Het
Tank	A	G	2: 61,483,913 (GRCm39)		probably benign	Het
Terb1	A	T	8: 105,215,117 (GRCm39)		probably null	Het
Trdc	T	C	14: 54,381,768 (GRCm39)		probably benign	Het
Tsen34	A	G	7: 3,697,787 (GRCm39)	I63V	probably null	Het
Ust	T	C	10: 8,123,865 (GRCm39)	H257R	probably benign	Het
Vmn2r6	T	C	3: 64,472,652 (GRCm39)	Q23R	probably benign	Het
Wdr93	A	T	7: 79,423,179 (GRCm39)	H481L	probably damaging	Het
Xirp2	A	G	2: 67,341,664 (GRCm39)	T1302A	possibly damaging	Het
Zc3h6	C	A	2: 128,839,710 (GRCm39)	Y174*	probably null	Het
Zcchc7	T	G	4: 44,931,244 (GRCm39)	D144E	possibly damaging	Het
Zfp472	T	A	17: 33,196,481 (GRCm39)	H185Q	possibly damaging	Het
Zfp523	C	A	17: 28,421,532 (GRCm39)	P66H	probably benign	Het
Zfp712	A	T	13: 67,192,881 (GRCm39)	L57Q	probably damaging	Het
Zik1	G	A	7: 10,224,498 (GRCm39)	Q200*	probably null	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
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
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'- GAGTCGTTGAACAAAGCCCAG -3'
(R):5'- AATGCCTTTGACTTGTACCTGG -3'

Sequencing Primer
(F):5'- GTCGTTGAACAAAGCCCAGAATTTG -3'
(R):5'- ACTTGTACCTGGGGGCTTGAG -3'

Posted On

2017-03-31