Mutagenetix > Incidental Mutation

Incidental Mutation 'R8368:Pkd2'

646253

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

067738-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8368 (G1)

Quality Score

177.009

Status

Not validated

Chromosome

Chromosomal Location

104607316-104653685 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 104607653 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 51 (E51*)

Ref Sequence

ENSEMBL: ENSMUSP00000084041 (fasta)

Gene Model

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

AlphaFold

O35245

Predicted Effect

probably null
Transcript: ENSMUST00000086831
AA Change: E51*

SMART Domains

Protein: ENSMUSP00000084041
Gene: ENSMUSG00000034462
AA Change: E51*

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: 99.9%
10x: 99.5%
20x: 98.4%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap39	A	T	15: 76,619,455 (GRCm39)	S710T	probably damaging	Het
Asb10	A	C	5: 24,744,615 (GRCm39)	I193S	probably benign	Het
C2cd6	A	G	1: 59,133,820 (GRCm39)	L67P	probably benign	Het
Ccdc14	T	C	16: 34,543,742 (GRCm39)	L748P	probably benign	Het
Cers4	T	G	8: 4,565,698 (GRCm39)	V48G	probably benign	Het
Chrna10	T	C	7: 101,764,223 (GRCm39)	T54A	probably benign	Het
Dip2b	T	C	15: 100,052,124 (GRCm39)	S242P	probably benign	Het
Fam151a	A	G	4: 106,604,190 (GRCm39)	T325A	probably benign	Het
Gm21190	A	T	5: 15,729,848 (GRCm39)	S257T	possibly damaging	Het
Gm49368	T	C	7: 127,713,921 (GRCm39)	S909P	probably benign	Het
Gm5150	C	A	3: 16,044,902 (GRCm39)	V108F	probably damaging	Het
Gsdmc2	G	A	15: 63,696,902 (GRCm39)	T423I	probably damaging	Het
Hsf2	T	A	10: 57,388,241 (GRCm39)	C501S	probably damaging	Het
Igf1r	A	G	7: 67,836,796 (GRCm39)	N551D	probably benign	Het
Kctd3	G	A	1: 188,704,404 (GRCm39)	T789I	probably benign	Het
Lad1	A	G	1: 135,759,264 (GRCm39)	E474G	probably damaging	Het
Lfng	G	A	5: 140,598,981 (GRCm39)	E297K	probably damaging	Het
Magi3	A	T	3: 104,002,379 (GRCm39)		probably null	Het
Nrdc	A	G	4: 108,870,895 (GRCm39)	D174G	probably benign	Het
Nrxn3	T	A	12: 90,298,815 (GRCm39)	Y445*	probably null	Het
Otol1	A	G	3: 69,935,199 (GRCm39)	Y397C	probably damaging	Het
Rad21l	A	G	2: 151,495,390 (GRCm39)	V431A	probably benign	Het
Rad50	A	G	11: 53,574,155 (GRCm39)	L694S	possibly damaging	Het
Rasal1	A	G	5: 120,809,615 (GRCm39)	S507G	probably damaging	Het
Ros1	T	A	10: 51,940,833 (GRCm39)	D2162V	probably damaging	Het
Samd7	A	T	3: 30,819,574 (GRCm39)	D441V	probably damaging	Het
Senp1	T	C	15: 97,943,255 (GRCm39)	S623G	probably damaging	Het
Shld1	T	C	2: 132,592,433 (GRCm39)	I160T	probably benign	Het
Slc23a3	G	T	1: 75,106,281 (GRCm39)	P313T	probably damaging	Het
Slc66a2	T	C	18: 80,334,873 (GRCm39)	S231P	probably benign	Het
Stab1	T	C	14: 30,870,368 (GRCm39)	D1320G	possibly damaging	Het
Tdpoz7	A	G	3: 93,979,893 (GRCm39)	F20S	probably damaging	Het
Tinf2	T	C	14: 55,917,030 (GRCm39)	T372A	probably damaging	Het
Trim45	A	G	3: 100,830,672 (GRCm39)	T149A	possibly damaging	Het
Trim63	TGAGGAGGAGGAGGAGGAGGAG	TGAGGAGGAGGAGGAGGAG	4: 134,055,017 (GRCm39)		probably benign	Het
Unc13c	C	T	9: 73,838,070 (GRCm39)	S927N	probably benign	Het
Uqcrfs1	C	A	13: 30,724,799 (GRCm39)	G247V	probably damaging	Het
Zfp143	A	T	7: 109,682,455 (GRCm39)	N342I	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
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'- AAAGAACATGGCTCCTGCG -3'
(R):5'- AAGAGTCCGGATCTTACCTCGC -3'

Sequencing Primer
(F):5'- ATGGCTCCTGCGGCAGAG -3'
(R):5'- GGATCTTACCTCGCAGCCC -3'

Posted On

2020-09-02