Mutagenetix > Incidental Mutation

Incidental Mutation 'R0315:Pkd2'

65253

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

038525-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0315 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

104607316-104653685 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 104607716 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 72 (S72T)

Ref Sequence

ENSEMBL: ENSMUSP00000084041 (fasta)

Gene Model

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

AlphaFold

O35245

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086831
AA Change: S72T

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000084041
Gene: ENSMUSG00000034462
AA Change: S72T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130931

Meta Mutation Damage Score

0.0758

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.9%
20x: 88.9%

Validation Efficiency

100% (42/42)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	G	A	17: 45,826,378 (GRCm39)	R409Q	possibly damaging	Het
Ank3	A	T	10: 69,838,347 (GRCm39)	Q825L	probably damaging	Het
Ap1g1	A	G	8: 110,545,667 (GRCm39)	I107V	probably benign	Het
Bub1b	A	T	2: 118,457,457 (GRCm39)		probably benign	Het
Cd86	C	T	16: 36,441,306 (GRCm39)	V54I	possibly damaging	Het
Dpys	T	G	15: 39,720,734 (GRCm39)	I9L	probably benign	Het
Fbxl17	G	A	17: 63,663,846 (GRCm39)	R67C	probably damaging	Het
Flg2	G	T	3: 93,122,029 (GRCm39)	G1400C	unknown	Het
Gm28042	T	C	2: 119,869,538 (GRCm39)	L634P	probably damaging	Het
Gm6712	G	A	17: 17,536,380 (GRCm39)		noncoding transcript	Het
Gpbp1	T	G	13: 111,573,072 (GRCm39)	E360A	possibly damaging	Het
Hmgn1	A	C	16: 95,926,017 (GRCm39)	I52R	probably benign	Het
Ing2	A	C	8: 48,122,125 (GRCm39)	M141R	probably benign	Het
Klhl2	A	T	8: 65,196,053 (GRCm39)	Y563*	probably null	Het
Lrrc9	A	G	12: 72,502,802 (GRCm39)	T258A	probably damaging	Het
Map1b	A	T	13: 99,567,624 (GRCm39)	I1699N	unknown	Het
Map2k5	A	T	9: 63,210,433 (GRCm39)	H185Q	probably damaging	Het
Mpv17l	A	T	16: 13,758,863 (GRCm39)	I96L	probably benign	Het
Mroh1	C	T	15: 76,311,800 (GRCm39)	A511V	possibly damaging	Het
Nop53	T	C	7: 15,679,235 (GRCm39)	D90G	probably damaging	Het
Or10k2	T	C	8: 84,268,001 (GRCm39)	V76A	possibly damaging	Het
Or5b97	A	T	19: 12,878,598 (GRCm39)	V182D	possibly damaging	Het
Or5w20	A	T	2: 87,727,410 (GRCm39)	Y289F	probably damaging	Het
Or6c209	T	A	10: 129,483,366 (GRCm39)	I123N	probably damaging	Het
Prc1	T	C	7: 79,963,284 (GRCm39)	S587P	probably damaging	Het
Rdh7	G	T	10: 127,724,265 (GRCm39)	T73K	possibly damaging	Het
Runx1	T	C	16: 92,402,655 (GRCm39)	N429S	probably damaging	Het
Skint7	G	A	4: 111,845,315 (GRCm39)	A376T	possibly damaging	Het
Slc16a14	T	C	1: 84,890,217 (GRCm39)	I363V	possibly damaging	Het
Smarcal1	C	T	1: 72,634,970 (GRCm39)	Q350*	probably null	Het
Soat1	T	A	1: 156,268,083 (GRCm39)	K275*	probably null	Het
Speg	T	C	1: 75,391,780 (GRCm39)	V1571A	possibly damaging	Het
Stat5b	G	C	11: 100,679,286 (GRCm39)	D605E	probably benign	Het
Susd4	G	A	1: 182,686,077 (GRCm39)	R209H	probably benign	Het
Tlr1	T	G	5: 65,084,271 (GRCm39)	D102A	probably damaging	Het
Tm4sf5	A	G	11: 70,401,462 (GRCm39)	N154D	probably damaging	Het
Tmigd3	T	A	3: 105,824,085 (GRCm39)	M18K	probably damaging	Het
Ube2h	A	T	6: 30,241,412 (GRCm39)	V86E	probably damaging	Het
Utp20	A	G	10: 88,643,283 (GRCm39)	L613P	probably damaging	Het
Vmn2r117	G	A	17: 23,679,139 (GRCm39)	S695L	probably benign	Het
Washc5	T	C	15: 59,213,825 (GRCm39)	D427G	probably damaging	Het
Zfp462	T	A	4: 55,079,314 (GRCm39)	F2403I	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
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
R9671:Pkd2	UTSW	5	104,637,256 (GRCm39)	missense	probably damaging	1.00
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'- TCCGGGAAGAAAAGAACATGGCTCC -3'
(R):5'- AGCAGACAGCCACCCTTGTAGGAC -3'

Sequencing Primer
(F):5'- AACATGGCTCCTGCGGC -3'
(R):5'- TGCACTGGACGCCAAGAG -3'

Posted On

2013-08-08