Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01348:Cip2a'

278298

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cip2a

Ensembl Gene

ENSMUSG00000033031

Gene Name

cell proliferation regulating inhibitor of protein phosphatase 2A

Synonyms

C330027C09Rik, Cip2a

Accession Numbers

Essential gene?

Probably essential (E-score: 0.921) question?

Stock #

IGL01348

Quality Score

Status

Chromosome

Chromosomal Location

48814548-48840072 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48833551 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 551 (I551V)

Ref Sequence

ENSEMBL: ENSMUSP00000113075 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048374] [ENSMUST00000117994]

AlphaFold

Q8BWY9

Predicted Effect

probably damaging
Transcript: ENSMUST00000048374
AA Change: I551V

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000044714
Gene: ENSMUSG00000033031
AA Change: I551V

Domain	Start	End	E-Value	Type
SCOP:d1jdha_	47	309	3e-4	SMART
low complexity region	439	450	N/A	INTRINSIC
coiled coil region	635	887	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000117994
AA Change: I551V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113075
Gene: ENSMUSG00000033031
AA Change: I551V

Domain	Start	End	E-Value	Type
SCOP:d1jdha_	47	309	2e-4	SMART
low complexity region	439	450	N/A	INTRINSIC
coiled coil region	635	887	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123975

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130080

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133754

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149004

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a hypomorphic allele display oligozoospermia, small epididymis and impaired spermatogonial progenitor cell maintenance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	T	C	11: 23,467,213 (GRCm39)	E140G	probably null	Het
Adgrl3	A	G	5: 81,874,570 (GRCm39)	T956A	probably damaging	Het
Aff4	G	A	11: 53,293,327 (GRCm39)	S772N	probably benign	Het
Ark2n	A	G	18: 77,761,613 (GRCm39)	I233T	possibly damaging	Het
Atad5	A	G	11: 79,986,390 (GRCm39)	I492M	probably benign	Het
Atf4	T	C	15: 80,140,728 (GRCm39)		probably benign	Het
Atrip	A	G	9: 108,898,363 (GRCm39)	S219P	probably damaging	Het
Axl	G	A	7: 25,462,734 (GRCm39)	R656W	probably damaging	Het
B3gnt3	T	A	8: 72,145,648 (GRCm39)	Q240L	possibly damaging	Het
Baz2b	A	G	2: 59,764,031 (GRCm39)	V915A	possibly damaging	Het
Cacna1s	T	C	1: 136,002,890 (GRCm39)	V329A	possibly damaging	Het
Celf3	C	A	3: 94,395,535 (GRCm39)	Q388K	possibly damaging	Het
Ciita	T	C	16: 10,328,591 (GRCm39)	S292P	probably damaging	Het
Clec18a	G	A	8: 111,798,245 (GRCm39)	A423V	probably damaging	Het
Clnk	T	C	5: 38,870,550 (GRCm39)	D336G	probably damaging	Het
Csmd1	T	G	8: 15,960,596 (GRCm39)	H3273P	probably damaging	Het
Cyp3a11	A	T	5: 145,805,817 (GRCm39)	V157E	possibly damaging	Het
Dcp1b	T	C	6: 119,160,679 (GRCm39)	I87T	probably damaging	Het
Ell3	A	G	2: 121,272,277 (GRCm39)	S66P	probably damaging	Het
Ercc4	T	C	16: 12,950,798 (GRCm39)	F631L	probably damaging	Het
Etl4	T	A	2: 20,811,784 (GRCm39)	V1289D	probably damaging	Het
Gm16372	T	C	12: 24,543,606 (GRCm39)		probably benign	Het
Gm4553	C	T	7: 141,718,909 (GRCm39)	C173Y	unknown	Het
Gvin-ps5	T	A	7: 105,929,042 (GRCm39)	H285L	unknown	Het
Gykl1	A	T	18: 52,827,808 (GRCm39)	I339F	possibly damaging	Het
H60b	A	C	10: 22,162,078 (GRCm39)	N101T	possibly damaging	Het
Inpp4a	C	T	1: 37,427,986 (GRCm39)	T407I	probably damaging	Het
Itga11	A	G	9: 62,651,861 (GRCm39)	N331S	possibly damaging	Het
Kbtbd6	T	A	14: 79,690,783 (GRCm39)	C430S	probably damaging	Het
Mfsd4a	T	C	1: 131,995,564 (GRCm39)	S1G	probably null	Het
Mybpc2	C	A	7: 44,165,352 (GRCm39)	M372I	probably benign	Het
Myh10	A	T	11: 68,702,629 (GRCm39)	T1768S	probably benign	Het
Myh8	A	G	11: 67,188,606 (GRCm39)	K1063E	probably damaging	Het
Nat8f5	A	T	6: 85,794,862 (GRCm39)	F33I	probably damaging	Het
Nbeal2	T	G	9: 110,458,214 (GRCm39)	N2119T	probably damaging	Het
Nek11	C	T	9: 105,270,112 (GRCm39)	G37S	probably damaging	Het
Npc1l1	T	C	11: 6,177,974 (GRCm39)	N479D	probably damaging	Het
Nup160	A	G	2: 90,530,772 (GRCm39)	T477A	probably benign	Het
Or10al5	A	T	17: 38,063,177 (GRCm39)	H144L	probably benign	Het
Or5h18	T	A	16: 58,848,157 (GRCm39)	T38S	probably damaging	Het
Pcgf2	A	G	11: 97,581,066 (GRCm39)	V259A	probably benign	Het
Pmm1	A	G	15: 81,836,219 (GRCm39)	V131A	probably damaging	Het
Polr3a	A	T	14: 24,511,831 (GRCm39)	D908E	probably damaging	Het
Psg29	A	C	7: 16,944,598 (GRCm39)	R369S	probably benign	Het
Ptprq	T	A	10: 107,547,765 (GRCm39)	D211V	probably damaging	Het
Rdh9	A	G	10: 127,612,661 (GRCm39)	N103S	probably benign	Het
Riok3	T	C	18: 12,286,020 (GRCm39)		probably benign	Het
Serpinb1b	A	T	13: 33,275,398 (GRCm39)	Q174H	probably benign	Het
Sgip1	G	T	4: 102,772,353 (GRCm39)		probably null	Het
Sgpp1	A	T	12: 75,781,767 (GRCm39)	Y191N	probably damaging	Het
Slc12a1	A	G	2: 125,036,051 (GRCm39)	N641S	probably damaging	Het
Slc5a4b	T	C	10: 75,906,422 (GRCm39)	N399S	probably damaging	Het
Snx16	C	T	3: 10,484,219 (GRCm39)	A335T	probably damaging	Het
Sos2	C	T	12: 69,664,866 (GRCm39)	R355H	probably damaging	Het
Szt2	A	G	4: 118,250,821 (GRCm39)		probably benign	Het
Tbcd	T	A	11: 121,387,902 (GRCm39)	D344E	probably benign	Het
Tek	C	A	4: 94,747,895 (GRCm39)	Q988K	probably damaging	Het
Tgm6	A	G	2: 129,979,299 (GRCm39)	D143G	probably damaging	Het
Tpx2	A	G	2: 152,735,511 (GRCm39)	K713R	probably damaging	Het
Trappc9	T	A	15: 72,808,858 (GRCm39)	E556V	possibly damaging	Het
Trpm6	A	T	19: 18,855,015 (GRCm39)	K1891N	probably damaging	Het
Trpv1	G	A	11: 73,129,078 (GRCm39)		probably null	Het
Usp37	T	C	1: 74,500,861 (GRCm39)	S567G	probably damaging	Het
Zfp773	A	T	7: 7,138,314 (GRCm39)	V107D	possibly damaging	Het

Other mutations in Cip2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Cip2a	APN	16	48,822,178 (GRCm39)	missense	probably damaging	1.00
IGL00788:Cip2a	APN	16	48,829,432 (GRCm39)	splice site	probably benign
IGL01343:Cip2a	APN	16	48,833,551 (GRCm39)	missense	probably damaging	1.00
IGL01876:Cip2a	APN	16	48,822,041 (GRCm39)	missense	probably damaging	1.00
IGL02255:Cip2a	APN	16	48,831,176 (GRCm39)	missense	probably damaging	0.99
IGL02515:Cip2a	APN	16	48,826,096 (GRCm39)	missense	possibly damaging	0.47
IGL03295:Cip2a	APN	16	48,814,704 (GRCm39)	missense	probably damaging	1.00
R0020:Cip2a	UTSW	16	48,821,975 (GRCm39)	missense	probably damaging	1.00
R0020:Cip2a	UTSW	16	48,821,975 (GRCm39)	missense	probably damaging	1.00
R0031:Cip2a	UTSW	16	48,837,736 (GRCm39)	missense	probably benign	0.14
R0612:Cip2a	UTSW	16	48,819,402 (GRCm39)	missense	probably benign	0.04
R1187:Cip2a	UTSW	16	48,820,656 (GRCm39)	missense	probably damaging	1.00
R1707:Cip2a	UTSW	16	48,838,767 (GRCm39)	missense	probably damaging	1.00
R1711:Cip2a	UTSW	16	48,837,849 (GRCm39)	missense	probably benign	0.31
R1715:Cip2a	UTSW	16	48,826,082 (GRCm39)	missense	probably benign	0.18
R2000:Cip2a	UTSW	16	48,835,332 (GRCm39)	missense	probably damaging	0.99
R2002:Cip2a	UTSW	16	48,826,214 (GRCm39)	splice site	probably benign
R2360:Cip2a	UTSW	16	48,837,828 (GRCm39)	nonsense	probably null
R4093:Cip2a	UTSW	16	48,821,339 (GRCm39)	splice site	probably benign
R4292:Cip2a	UTSW	16	48,833,612 (GRCm39)	missense	probably benign	0.00
R4293:Cip2a	UTSW	16	48,833,612 (GRCm39)	missense	probably benign	0.00
R4295:Cip2a	UTSW	16	48,833,612 (GRCm39)	missense	probably benign	0.00
R4726:Cip2a	UTSW	16	48,834,433 (GRCm39)	missense	probably benign	0.02
R4925:Cip2a	UTSW	16	48,836,726 (GRCm39)	critical splice donor site	probably null
R5735:Cip2a	UTSW	16	48,837,856 (GRCm39)	critical splice donor site	probably null
R5893:Cip2a	UTSW	16	48,817,863 (GRCm39)	missense	probably benign
R6146:Cip2a	UTSW	16	48,814,692 (GRCm39)	nonsense	probably null
R6649:Cip2a	UTSW	16	48,837,829 (GRCm39)	missense	probably damaging	1.00
R7235:Cip2a	UTSW	16	48,821,422 (GRCm39)	missense	probably damaging	1.00
R7300:Cip2a	UTSW	16	48,834,217 (GRCm39)	missense	probably damaging	1.00
R7325:Cip2a	UTSW	16	48,826,184 (GRCm39)	missense	probably benign	0.32
R7365:Cip2a	UTSW	16	48,822,016 (GRCm39)	missense	probably benign	0.35
R7414:Cip2a	UTSW	16	48,821,998 (GRCm39)	missense	probably benign	0.21
R7715:Cip2a	UTSW	16	48,834,347 (GRCm39)	missense	probably damaging	0.99
R7780:Cip2a	UTSW	16	48,822,023 (GRCm39)	nonsense	probably null
R8156:Cip2a	UTSW	16	48,817,825 (GRCm39)	missense	probably damaging	1.00
R8353:Cip2a	UTSW	16	48,821,436 (GRCm39)	nonsense	probably null
R8514:Cip2a	UTSW	16	48,817,810 (GRCm39)	missense	possibly damaging	0.95
R8701:Cip2a	UTSW	16	48,827,504 (GRCm39)	nonsense	probably null
R9077:Cip2a	UTSW	16	48,827,511 (GRCm39)	missense	probably benign	0.06
R9326:Cip2a	UTSW	16	48,834,235 (GRCm39)	critical splice donor site	probably null
R9575:Cip2a	UTSW	16	48,838,754 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16