Mutagenetix > Incidental Mutation

Incidental Mutation 'R6146:Cip2a'

488908

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

044293-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.921) question?

Stock #

R6146 (G1)

Quality Score

203.009

Status

Not validated

Chromosome

Chromosomal Location

48814548-48840072 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 48814692 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 18 (K18*)

Ref Sequence

ENSEMBL: ENSMUSP00000113075 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048374] [ENSMUST00000114516] [ENSMUST00000117994] [ENSMUST00000121869] [ENSMUST00000125278]

AlphaFold

Q8BWY9

Predicted Effect

probably null
Transcript: ENSMUST00000048374
AA Change: K18*

SMART Domains

Protein: ENSMUSP00000044714
Gene: ENSMUSG00000033031
AA Change: K18*

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 benign
Transcript: ENSMUST00000114516

SMART Domains

Protein: ENSMUSP00000110161
Gene: ENSMUSG00000064061

Domain	Start	End	E-Value	Type
low complexity region	451	472	N/A	INTRINSIC
coiled coil region	548	568	N/A	INTRINSIC
coiled coil region	599	650	N/A	INTRINSIC
low complexity region	743	754	N/A	INTRINSIC
low complexity region	883	891	N/A	INTRINSIC
RING	938	977	2.09e-7	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000117994
AA Change: K18*

SMART Domains

Protein: ENSMUSP00000113075
Gene: ENSMUSG00000033031
AA Change: K18*

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

probably benign
Transcript: ENSMUST00000121869

SMART Domains

Protein: ENSMUSP00000113344
Gene: ENSMUSG00000064061

Domain	Start	End	E-Value	Type
low complexity region	657	678	N/A	INTRINSIC
coiled coil region	754	774	N/A	INTRINSIC
coiled coil region	805	856	N/A	INTRINSIC
low complexity region	949	960	N/A	INTRINSIC
low complexity region	1089	1097	N/A	INTRINSIC
RING	1144	1183	2.09e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125278

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	G	5: 8,946,587 (GRCm39)	E29G	probably benign	Het
Abi3bp	T	C	16: 56,491,628 (GRCm39)	S552P	probably damaging	Het
Adgrg7	A	G	16: 56,593,829 (GRCm39)	I129T	probably benign	Het
Adhfe1	A	G	1: 9,623,943 (GRCm39)	N148S	probably damaging	Het
AI182371	A	G	2: 34,987,983 (GRCm39)	Y77H	probably damaging	Het
Aldh5a1	C	T	13: 25,103,661 (GRCm39)		probably null	Het
Ankrd2	A	G	19: 42,028,544 (GRCm39)	T67A	possibly damaging	Het
Anln	A	T	9: 22,287,604 (GRCm39)	C232*	probably null	Het
Cchcr1	A	G	17: 35,839,475 (GRCm39)	D587G	possibly damaging	Het
Cgn	G	T	3: 94,674,435 (GRCm39)	Q901K	possibly damaging	Het
Cluh	G	T	11: 74,558,054 (GRCm39)		probably null	Het
Crebbp	G	A	16: 3,902,487 (GRCm39)	Q2213*	probably null	Het
Cyp2d22	T	A	15: 82,258,036 (GRCm39)		probably null	Het
Dcdc2a	T	C	13: 25,389,440 (GRCm39)	V456A	probably benign	Het
Depdc5	A	G	5: 33,126,075 (GRCm39)	E569G	probably benign	Het
Dnah5	T	C	15: 28,459,331 (GRCm39)	F4517L	probably benign	Het
Doc2b	T	C	11: 75,664,421 (GRCm39)	K317E	probably damaging	Het
Dysf	T	A	6: 84,180,181 (GRCm39)	D1951E	probably damaging	Het
Epha6	C	A	16: 60,245,198 (GRCm39)	A334S	possibly damaging	Het
F2rl2	A	C	13: 95,837,149 (GRCm39)	I65L	probably benign	Het
Fbxw17	A	G	13: 50,586,548 (GRCm39)	K417E	probably benign	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Fxr2	A	G	11: 69,532,165 (GRCm39)	M96V	possibly damaging	Het
Kcnj10	C	A	1: 172,196,892 (GRCm39)	Y135*	probably null	Het
Kidins220	G	A	12: 25,102,812 (GRCm39)	R1238Q	probably damaging	Het
Krt31	T	C	11: 99,939,056 (GRCm39)	N255S	probably benign	Het
Lrp2	T	C	2: 69,341,345 (GRCm39)	D945G	probably benign	Het
Lrrc66	T	C	5: 73,765,432 (GRCm39)	D537G	probably benign	Het
Ltbp4	T	A	7: 27,019,149 (GRCm39)	I992F	probably damaging	Het
Lzts1	A	G	8: 69,593,524 (GRCm39)	S28P	probably benign	Het
Mrc2	C	A	11: 105,216,470 (GRCm39)	N86K	probably damaging	Het
Mroh6	C	A	15: 75,758,486 (GRCm39)	A302S	possibly damaging	Het
Muc16	T	A	9: 18,409,093 (GRCm39)	N198Y	probably damaging	Het
Myo9a	T	C	9: 59,778,512 (GRCm39)	S1423P	probably benign	Het
Or10ag58	A	T	2: 87,265,662 (GRCm39)	D277V	possibly damaging	Het
Or2b28	A	T	13: 21,531,164 (GRCm39)	Y22F	possibly damaging	Het
Or5h22	A	G	16: 58,895,077 (GRCm39)	V122A	probably benign	Het
Or5p56	G	T	7: 107,589,620 (GRCm39)	G16V	probably damaging	Het
Or5w17	A	C	2: 87,583,602 (GRCm39)	L245R	probably damaging	Het
Or9g4	T	A	2: 85,504,938 (GRCm39)	K186*	probably null	Het
Otogl	G	A	10: 107,612,978 (GRCm39)		silent	Het
Polg	T	C	7: 79,100,260 (GRCm39)	M1184V	probably benign	Het
Prl8a8	T	C	13: 27,694,463 (GRCm39)	Y108C	probably damaging	Het
Proser1	T	A	3: 53,385,540 (GRCm39)	I474N	probably damaging	Het
Rab44	A	G	17: 29,354,391 (GRCm39)		probably benign	Het
Rbp1	C	A	9: 98,307,669 (GRCm39)	D79E	possibly damaging	Het
Rnf213	T	C	11: 119,326,825 (GRCm39)	V1605A	probably benign	Het
Rps24	A	T	14: 24,540,803 (GRCm39)		probably null	Het
Setd5	T	C	6: 113,098,773 (GRCm39)		probably null	Het
Skic3	A	G	13: 76,333,359 (GRCm39)	E1536G	probably damaging	Het
Slc38a3	T	C	9: 107,532,228 (GRCm39)	I435V	probably benign	Het
Slco1a5	T	A	6: 142,180,534 (GRCm39)	M623L	probably benign	Het
Spaca9	G	A	2: 28,583,793 (GRCm39)	R64W	probably damaging	Het
Spn	A	G	7: 126,735,479 (GRCm39)	S343P	possibly damaging	Het
Sptan1	A	G	2: 29,894,535 (GRCm39)	T1168A	probably benign	Het
Sptbn4	A	T	7: 27,064,012 (GRCm39)	L2138*	probably null	Het
Tg	T	A	15: 66,545,216 (GRCm39)		probably null	Het
Tigd5	T	A	15: 75,782,094 (GRCm39)	L152Q	probably damaging	Het
Tmem163	C	T	1: 127,447,126 (GRCm39)	V170I	probably benign	Het
Tpr	T	C	1: 150,298,913 (GRCm39)	C1068R	possibly damaging	Het
Ubr1	A	T	2: 120,723,690 (GRCm39)	Y1290N	probably damaging	Het
Vmn1r184	T	A	7: 25,966,817 (GRCm39)	F188I	probably benign	Het
Vmn2r100	G	A	17: 19,742,522 (GRCm39)	V299I	probably benign	Het
Vmn2r91	T	G	17: 18,356,518 (GRCm39)	H728Q	probably benign	Het
Vta1	T	C	10: 14,581,096 (GRCm39)	Y37C	probably damaging	Het
Wbp2	C	A	11: 115,974,728 (GRCm39)	M35I	probably benign	Het
Zcchc9	G	A	13: 91,953,986 (GRCm39)	Q90*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- TCCTCACCGTGTCTAGACTAGG -3'
(R):5'- TTGGGTCCGTACACAATCC -3'

Sequencing Primer
(F):5'- AGATTCCCGCGTGTTCG -3'
(R):5'- TGGCACCCACTCGTTGC -3'

Posted On

2017-10-10