Mutagenetix > Incidental Mutation

Incidental Mutation 'R9671:Pkd2'

728040

Institutional Source

Beutler Lab

Gene Symbol

Pkd2

Ensembl Gene

ENSMUSG00000034462

Gene Name

polycystin 2, transient receptor potential cation channel

Synonyms

TRPP2, polycystin-2, C030034P18Rik, PC2

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9671 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104607316-104653685 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104637256 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 623 (D623G)

Ref Sequence

ENSEMBL: ENSMUSP00000084041 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086831]

AlphaFold

O35245

Predicted Effect

probably damaging
Transcript: ENSMUST00000086831
AA Change: D623G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000084041
Gene: ENSMUSG00000034462
AA Change: D623G

Domain	Start	End	E-Value	Type
low complexity region	25	43	N/A	INTRINSIC
low complexity region	58	79	N/A	INTRINSIC
low complexity region	93	115	N/A	INTRINSIC
low complexity region	119	138	N/A	INTRINSIC
transmembrane domain	225	247	N/A	INTRINSIC
Pfam:PKD_channel	265	685	1.3e-171	PFAM
Pfam:Ion_trans	454	690	2.6e-25	PFAM
coiled coil region	765	794	N/A	INTRINSIC
PDB:3HRN\|A	834	893	8e-31	PDB
low complexity region	900	915	N/A	INTRINSIC
low complexity region	949	963	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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 is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renal epithelial cells. This protein interacts with polycystin 1, and they may be partners in a common signaling cascade involved in tubular morphogenesis. Mutations in this gene are associated with autosomal dominant polycystic kidney disease type 2. [provided by RefSeq, Mar 2011]
PHENOTYPE: Homozygotes for targeted null mutations exhibit defects in cardiac septation, kidney and pancreatic cysts, impaired left-right axis determination, and late-gestation lethality. Heterozygotes show kidney and liver lesions and have reduced longevity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 64,055,948 (GRCm39)	L228*	probably null	Het
Acsf2	T	C	11: 94,460,802 (GRCm39)	D368G	probably benign	Het
Adat2	T	A	10: 13,438,452 (GRCm39)	N177K	probably damaging	Het
Adgrf5	G	T	17: 43,760,795 (GRCm39)	R830M	probably damaging	Het
Apoh	G	A	11: 108,286,792 (GRCm39)	W72*	probably null	Het
Bcl2l12	G	T	7: 44,642,301 (GRCm39)	P195Q	probably damaging	Het
Cacna1b	T	C	2: 24,596,282 (GRCm39)	M470V	probably benign	Het
Ccdc188	A	T	16: 18,036,268 (GRCm39)	R79*	probably null	Het
Cd34	T	A	1: 194,641,501 (GRCm39)	M309K	probably damaging	Het
Clec4a2	A	T	6: 123,101,942 (GRCm39)	K32N	possibly damaging	Het
Csmd3	G	T	15: 47,845,299 (GRCm39)	P88H		Het
Def6	A	G	17: 28,438,755 (GRCm39)	S154G	probably benign	Het
Dot1l	T	C	10: 80,620,613 (GRCm39)	L530P	probably damaging	Het
Fam13a	A	G	6: 58,951,014 (GRCm39)		probably null	Het
Fat3	G	A	9: 16,286,871 (GRCm39)	A884V	possibly damaging	Het
Frem3	C	A	8: 81,339,134 (GRCm39)	H476N	probably benign	Het
Gm3404	T	C	5: 146,463,031 (GRCm39)	V71A	probably benign	Het
Hnf4g	T	G	3: 3,703,273 (GRCm39)	S53R	probably benign	Het
Ighv13-2	T	C	12: 114,321,796 (GRCm39)	N15D	probably benign	Het
Jak1	T	C	4: 101,034,926 (GRCm39)	K339E	possibly damaging	Het
Klhl35	C	G	7: 99,117,702 (GRCm39)	P82R	probably benign	Het
Klhl40	T	A	9: 121,607,743 (GRCm39)	V301E	probably benign	Het
Knl1	A	T	2: 118,901,089 (GRCm39)	N930I	probably damaging	Het
Ltbp1	A	G	17: 75,603,217 (GRCm39)		probably null	Het
Mapk7	T	C	11: 61,382,498 (GRCm39)	D68G	probably damaging	Het
Myo3b	A	G	2: 70,086,908 (GRCm39)	H852R	probably damaging	Het
Or51a6	A	T	7: 102,604,633 (GRCm39)	H58Q	probably benign	Het
Pramel14	A	C	4: 143,719,687 (GRCm39)	I226S	probably benign	Het
Rfxank	T	C	8: 70,588,198 (GRCm39)	T118A	probably benign	Het
Rxrb	T	A	17: 34,252,020 (GRCm39)		probably null	Het
Sec14l3	G	A	11: 4,025,486 (GRCm39)	V337M	probably damaging	Het
Sema3e	A	G	5: 14,212,217 (GRCm39)	T98A	probably benign	Het
Ska1	A	T	18: 74,333,010 (GRCm39)	M136K	probably damaging	Het
Slc19a3	T	C	1: 83,000,297 (GRCm39)	D240G	probably benign	Het
Snph	T	C	2: 151,436,331 (GRCm39)	Y199C	probably damaging	Het
Sorl1	A	T	9: 41,943,077 (GRCm39)	I933N	possibly damaging	Het
Spag16	C	A	1: 69,883,495 (GRCm39)	H75N	probably benign	Het
Spice1	C	T	16: 44,199,671 (GRCm39)	R708C	probably benign	Het
Tet3	C	A	6: 83,381,136 (GRCm39)	S344I	possibly damaging	Het
Trav5-4	A	G	14: 53,941,816 (GRCm39)	E63G	possibly damaging	Het
Trp73	G	A	4: 154,148,403 (GRCm39)	P337L	probably benign	Het
Ttn	A	G	2: 76,778,359 (GRCm39)	F1343L	unknown	Het
Vipas39	T	C	12: 87,292,985 (GRCm39)	H320R	probably benign	Het
Vmn2r4	T	C	3: 64,317,271 (GRCm39)	I156V	probably benign	Het
Wdr81	T	C	11: 75,345,189 (GRCm39)	D26G	probably damaging	Het
Zscan4d	A	T	7: 10,898,945 (GRCm39)	F111I	probably damaging	Het

Other mutations in Pkd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00898:Pkd2	APN	5	104,631,001 (GRCm39)	missense	probably damaging	1.00
IGL01527:Pkd2	APN	5	104,646,750 (GRCm39)	splice site	probably benign
IGL01805:Pkd2	APN	5	104,630,959 (GRCm39)	missense	probably benign	0.41
IGL02146:Pkd2	APN	5	104,637,157 (GRCm39)	missense	probably damaging	1.00
IGL02326:Pkd2	APN	5	104,624,941 (GRCm39)	missense	probably benign	0.38
IGL02481:Pkd2	APN	5	104,634,636 (GRCm39)	missense	probably damaging	1.00
IGL02952:Pkd2	APN	5	104,628,026 (GRCm39)	missense	possibly damaging	0.48
IGL03026:Pkd2	APN	5	104,642,753 (GRCm39)	splice site	probably benign
IGL03409:Pkd2	APN	5	104,637,215 (GRCm39)	nonsense	probably null
Nephro	UTSW	5	104,634,672 (GRCm39)	missense	probably damaging	1.00
reggae	UTSW	5	104,625,045 (GRCm39)	splice site	probably null
samba	UTSW	5	104,624,989 (GRCm39)	missense	probably benign	0.01
IGL02988:Pkd2	UTSW	5	104,651,471 (GRCm39)	nonsense	probably null
PIT1430001:Pkd2	UTSW	5	104,607,654 (GRCm39)	missense	probably damaging	0.99
R0020:Pkd2	UTSW	5	104,651,382 (GRCm39)	missense	probably damaging	1.00
R0020:Pkd2	UTSW	5	104,651,382 (GRCm39)	missense	probably damaging	1.00
R0045:Pkd2	UTSW	5	104,603,671 (GRCm39)	unclassified	probably benign
R0070:Pkd2	UTSW	5	104,614,856 (GRCm39)	missense	probably damaging	0.99
R0070:Pkd2	UTSW	5	104,614,856 (GRCm39)	missense	probably damaging	0.99
R0315:Pkd2	UTSW	5	104,607,716 (GRCm39)	missense	possibly damaging	0.94
R0316:Pkd2	UTSW	5	104,625,032 (GRCm39)	missense	probably damaging	1.00
R0570:Pkd2	UTSW	5	104,603,471 (GRCm39)	unclassified	probably benign
R1277:Pkd2	UTSW	5	104,650,225 (GRCm39)	missense	probably damaging	0.97
R1883:Pkd2	UTSW	5	104,631,094 (GRCm39)	missense	probably damaging	1.00
R1907:Pkd2	UTSW	5	104,634,672 (GRCm39)	missense	probably damaging	1.00
R1937:Pkd2	UTSW	5	104,626,790 (GRCm39)	missense	probably damaging	1.00
R2023:Pkd2	UTSW	5	104,614,744 (GRCm39)	splice site	probably null
R2080:Pkd2	UTSW	5	104,624,989 (GRCm39)	missense	probably benign	0.01
R2081:Pkd2	UTSW	5	104,608,077 (GRCm39)	missense	probably benign	0.00
R2098:Pkd2	UTSW	5	104,626,768 (GRCm39)	missense	probably damaging	1.00
R2117:Pkd2	UTSW	5	104,631,042 (GRCm39)	missense	probably damaging	1.00
R2146:Pkd2	UTSW	5	104,603,456 (GRCm39)	unclassified	probably benign
R2163:Pkd2	UTSW	5	104,603,543 (GRCm39)	unclassified	probably benign
R3401:Pkd2	UTSW	5	104,628,193 (GRCm39)	missense	possibly damaging	0.68
R3732:Pkd2	UTSW	5	104,637,285 (GRCm39)	splice site	probably null
R3733:Pkd2	UTSW	5	104,637,285 (GRCm39)	splice site	probably null
R4409:Pkd2	UTSW	5	104,614,750 (GRCm39)	splice site	silent
R4582:Pkd2	UTSW	5	104,650,210 (GRCm39)	nonsense	probably null
R5189:Pkd2	UTSW	5	104,607,785 (GRCm39)	missense	probably benign	0.22
R5191:Pkd2	UTSW	5	104,634,547 (GRCm39)	missense	probably benign	0.05
R5195:Pkd2	UTSW	5	104,634,547 (GRCm39)	missense	probably benign	0.05
R5198:Pkd2	UTSW	5	104,630,958 (GRCm39)	missense	probably benign	0.06
R5326:Pkd2	UTSW	5	104,634,515 (GRCm39)	splice site	silent
R5406:Pkd2	UTSW	5	104,628,198 (GRCm39)	missense	probably damaging	1.00
R5542:Pkd2	UTSW	5	104,634,515 (GRCm39)	splice site	silent
R5543:Pkd2	UTSW	5	104,637,199 (GRCm39)	missense	probably damaging	1.00
R5633:Pkd2	UTSW	5	104,646,372 (GRCm39)	missense	probably damaging	0.98
R5887:Pkd2	UTSW	5	104,646,405 (GRCm39)	missense	probably damaging	1.00
R5906:Pkd2	UTSW	5	104,625,045 (GRCm39)	splice site	probably null
R5924:Pkd2	UTSW	5	104,646,424 (GRCm39)	missense	probably damaging	0.99
R6361:Pkd2	UTSW	5	104,634,546 (GRCm39)	nonsense	probably null
R6455:Pkd2	UTSW	5	104,607,790 (GRCm39)	missense	probably benign	0.00
R6495:Pkd2	UTSW	5	104,637,159 (GRCm39)	missense	probably damaging	1.00
R6735:Pkd2	UTSW	5	104,628,195 (GRCm39)	missense	probably damaging	1.00
R6837:Pkd2	UTSW	5	104,624,909 (GRCm39)	missense	probably damaging	1.00
R7192:Pkd2	UTSW	5	104,634,523 (GRCm39)	missense	probably benign	0.00
R7477:Pkd2	UTSW	5	104,631,108 (GRCm39)	missense	probably benign	0.19
R7560:Pkd2	UTSW	5	104,628,219 (GRCm39)	missense	probably damaging	1.00
R7867:Pkd2	UTSW	5	104,630,986 (GRCm39)	missense	probably damaging	1.00
R7894:Pkd2	UTSW	5	104,628,103 (GRCm39)	missense	probably damaging	1.00
R8251:Pkd2	UTSW	5	104,646,353 (GRCm39)	missense	probably benign	0.01
R8360:Pkd2	UTSW	5	104,607,653 (GRCm39)	nonsense	probably null
R8368:Pkd2	UTSW	5	104,607,653 (GRCm39)	nonsense	probably null
R8526:Pkd2	UTSW	5	104,637,102 (GRCm39)	missense	probably damaging	1.00
R8751:Pkd2	UTSW	5	104,637,151 (GRCm39)	missense	probably damaging	1.00
R8956:Pkd2	UTSW	5	104,631,090 (GRCm39)	missense	probably damaging	1.00
R9101:Pkd2	UTSW	5	104,628,230 (GRCm39)	missense	probably damaging	1.00
R9271:Pkd2	UTSW	5	104,626,959 (GRCm39)	splice site	probably null
R9452:Pkd2	UTSW	5	104,614,841 (GRCm39)	missense	probably damaging	1.00
R9459:Pkd2	UTSW	5	104,614,800 (GRCm39)	missense	probably damaging	1.00
R9541:Pkd2	UTSW	5	104,607,927 (GRCm39)	missense	probably damaging	0.98
R9682:Pkd2	UTSW	5	104,626,790 (GRCm39)	missense	probably damaging	1.00
R9737:Pkd2	UTSW	5	104,651,349 (GRCm39)	missense	possibly damaging	0.92
Z1088:Pkd2	UTSW	5	104,646,727 (GRCm39)	missense	probably damaging	1.00
Z1176:Pkd2	UTSW	5	104,607,915 (GRCm39)	missense	probably benign	0.43

Predicted Primers

PCR Primer
(F):5'- AGGCTGTATTCTGACTCATCAAC -3'
(R):5'- TCAAACAGTAACAGGACTATCTTGC -3'

Sequencing Primer
(F):5'- TCTTCAGGGTGCCTCAAACAAATG -3'
(R):5'- TCTTGCTGTAAAGAACACGATGGC -3'

Posted On

2022-10-06