Mutagenetix > Incidental Mutation

Incidental Mutation 'R8701:Cip2a'

669092

Institutional Source

Beutler Lab

Gene Symbol

Cip2a

Ensembl Gene

ENSMUSG00000033031

Gene Name

cell proliferation regulating inhibitor of protein phosphatase 2A

Synonyms

C330027C09Rik, Cip2a

MMRRC Submission

068555-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.921) question?

Stock #

R8701 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

48814548-48840072 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 48827504 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 456 (Y456*)

Ref Sequence

ENSEMBL: ENSMUSP00000044714 (fasta)

Gene Model

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

AlphaFold

Q8BWY9

Predicted Effect

probably null
Transcript: ENSMUST00000048374
AA Change: Y456*

SMART Domains

Protein: ENSMUSP00000044714
Gene: ENSMUSG00000033031
AA Change: Y456*

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 null
Transcript: ENSMUST00000117994
AA Change: Y456*

SMART Domains

Protein: ENSMUSP00000113075
Gene: ENSMUSG00000033031
AA Change: Y456*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	T	C	14: 118,836,785 (GRCm39)	I659V	probably benign	Het
Adamtsl4	T	A	3: 95,592,276 (GRCm39)	D24V	possibly damaging	Het
Agtr1b	A	T	3: 20,370,256 (GRCm39)	F117I	probably damaging	Het
Aldh3b2	A	G	19: 4,028,448 (GRCm39)	E116G	probably damaging	Het
Alox5	T	A	6: 116,390,787 (GRCm39)	I455F	possibly damaging	Het
Arnt	C	T	3: 95,401,076 (GRCm39)	S675F	possibly damaging	Het
Camkv	A	G	9: 107,825,240 (GRCm39)	T414A	possibly damaging	Het
Ccn5	G	T	2: 163,670,786 (GRCm39)	G98W	probably damaging	Het
Cd209c	C	T	8: 3,995,892 (GRCm39)	R6H	probably benign	Het
Cnr1	A	G	4: 33,944,739 (GRCm39)	I376V	probably benign	Het
Cyp2j12	T	A	4: 96,009,810 (GRCm39)	K183M	possibly damaging	Het
Dact3	G	T	7: 16,619,201 (GRCm39)	R232L	probably damaging	Het
Dlg5	G	A	14: 24,226,768 (GRCm39)	T378M	probably benign	Het
Dnah10	T	A	5: 124,803,911 (GRCm39)	D79E	probably benign	Het
Dsc1	A	T	18: 20,240,739 (GRCm39)	Y195*	probably null	Het
Elovl1	A	T	4: 118,287,707 (GRCm39)	M1L	probably benign	Het
Fam107a	A	G	14: 8,298,755 (GRCm38)	F124L	probably damaging	Het
Fam219a	A	G	4: 41,520,283 (GRCm39)	M155T	probably damaging	Het
Gm28308	C	G	6: 52,140,430 (GRCm39)		probably benign	Het
Gpr153	C	T	4: 152,363,558 (GRCm39)		probably benign	Het
Gtf2ird2	T	A	5: 134,245,077 (GRCm39)	I445N	probably damaging	Het
Gzmb	A	T	14: 56,497,817 (GRCm39)	V141E	probably benign	Het
Hmcn1	A	T	1: 150,631,008 (GRCm39)	M930K	probably benign	Het
Hunk	T	A	16: 90,183,498 (GRCm39)	F52Y	probably damaging	Het
Il18rap	A	G	1: 40,578,501 (GRCm39)	E304G	probably benign	Het
Klk14	A	G	7: 43,343,566 (GRCm39)	S133G	possibly damaging	Het
Man2b1	T	C	8: 85,821,782 (GRCm39)	S695P	probably damaging	Het
Mccc1	A	T	3: 36,049,933 (GRCm39)	D86E	probably benign	Het
Mcu	T	A	10: 59,303,475 (GRCm39)	I121F	probably damaging	Het
Mlxipl	T	C	5: 135,136,045 (GRCm39)	F90S	possibly damaging	Het
Muc2	A	G	7: 141,281,850 (GRCm39)	D536G	probably damaging	Het
Naa11	T	C	5: 97,539,817 (GRCm39)	S114G	possibly damaging	Het
Ncaph	T	C	2: 126,948,058 (GRCm39)	K676E	probably benign	Het
Neurl2	C	T	2: 164,675,054 (GRCm39)	D103N	probably benign	Het
Nup210l	T	C	3: 90,030,121 (GRCm39)	M278T	probably benign	Het
Or10g6	A	G	9: 39,933,815 (GRCm39)	N42S	probably damaging	Het
Or4p4	A	G	2: 88,482,831 (GRCm39)	I112V	possibly damaging	Het
Or51r1	A	T	7: 102,227,899 (GRCm39)	M66L	possibly damaging	Het
Or8c19-ps1	A	T	9: 38,220,734 (GRCm39)	L214F	unknown	Het
Or8g4	A	T	9: 39,662,210 (GRCm39)	H176L	probably damaging	Het
Pcdh20	A	T	14: 88,705,849 (GRCm39)	Y484N	possibly damaging	Het
Pkhd1l1	A	G	15: 44,438,079 (GRCm39)	Y3598C	probably damaging	Het
Plcg2	T	A	8: 118,308,416 (GRCm39)	L336Q	probably damaging	Het
Ppp1r8	T	C	4: 132,557,953 (GRCm39)	D207G	possibly damaging	Het
Prdm13	C	T	4: 21,678,615 (GRCm39)	C625Y	probably damaging	Het
Ptcd3	T	C	6: 71,862,495 (GRCm39)	D480G	possibly damaging	Het
Rbm39	T	A	2: 156,003,507 (GRCm39)	K291M	probably damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rnf220	T	C	4: 117,347,190 (GRCm39)	H74R	probably damaging	Het
Sp6	A	T	11: 96,913,090 (GRCm39)	T268S	probably damaging	Het
Spata31e2	A	T	1: 26,724,526 (GRCm39)	V218D	probably benign	Het
Sphk2	A	T	7: 45,360,249 (GRCm39)	V585E	probably damaging	Het
Syne1	G	A	10: 5,155,026 (GRCm39)	Q5638*	probably null	Het
Tas1r3	C	T	4: 155,945,503 (GRCm39)	V573I	probably benign	Het
Tdrd1	T	C	19: 56,839,916 (GRCm39)	S659P	possibly damaging	Het
Tead4	T	A	6: 128,219,529 (GRCm39)	K237N	probably damaging	Het
Tex24	T	A	8: 27,835,152 (GRCm39)	C227S	probably benign	Het
Tom1	A	T	8: 75,778,796 (GRCm39)	T174S	probably benign	Het
Tpm3	C	T	3: 89,994,987 (GRCm39)	R168C	possibly damaging	Het
Trpv3	A	G	11: 73,169,762 (GRCm39)	E111G	possibly damaging	Het
Unc80	A	G	1: 66,677,191 (GRCm39)	D2040G	possibly damaging	Het
Usp47	A	G	7: 111,692,402 (GRCm39)	T955A	probably damaging	Het
Vmn2r11	G	A	5: 109,195,556 (GRCm39)	A590V	probably damaging	Het
Zfp112	A	G	7: 23,825,165 (GRCm39)	R382G	probably damaging	Het
Zfp606	T	A	7: 12,215,025 (GRCm39)	D84E	unknown	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
IGL01348: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
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

Predicted Primers

PCR Primer
(F):5'- GCCGCTTTTGTGACATGTC -3'
(R):5'- ACAGATGTCAAAGCCTTTCAGAAG -3'

Sequencing Primer
(F):5'- CCGCTTTTGTGACATGTCTTAAAG -3'
(R):5'- GATGTCAAAGCCTTTCAGAAGTATAC -3'

Posted On

2021-04-30