Mutagenetix > Incidental Mutation

Incidental Mutation 'R9192:Ovca2'

697756

Institutional Source

Beutler Lab

Gene Symbol

Ovca2

Ensembl Gene

ENSMUSG00000038268

Gene Name

candidate tumor suppressor in ovarian cancer 2

Synonyms

9030414M07Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R9192 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75066769-75069634 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75068862 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 179 (V179A)

Ref Sequence

ENSEMBL: ENSMUSP00000071493 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044949] [ENSMUST00000071562] [ENSMUST00000139958]

AlphaFold

Q9D7E3

Predicted Effect

probably benign
Transcript: ENSMUST00000044949

SMART Domains

Protein: ENSMUSP00000042162
Gene: ENSMUSG00000078789

Domain	Start	End	E-Value	Type
Pfam:Diphthamide_syn	76	377	5.3e-123	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071562
AA Change: V179A

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000071493
Gene: ENSMUSG00000038268
AA Change: V179A

Domain	Start	End	E-Value	Type
Pfam:FSH1	1	216	1.2e-57	PFAM
Pfam:Abhydrolase_2	60	225	2.4e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139958

SMART Domains

Protein: ENSMUSP00000116537
Gene: ENSMUSG00000078789

Domain	Start	End	E-Value	Type
Pfam:Diphthamide_syn	62	276	1.1e-79	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	T	A	7: 75,354,249 (GRCm39)	M71K	probably benign	Het
Angptl4	C	T	17: 34,000,285 (GRCm39)	A28T	probably benign	Het
Baz1b	T	G	5: 135,239,648 (GRCm39)	N249K	possibly damaging	Het
BC035947	A	T	1: 78,475,877 (GRCm39)	Y218*	probably null	Het
Ctbp1	T	C	5: 33,408,333 (GRCm39)	I211V	probably benign	Het
Dars1	T	C	1: 128,299,889 (GRCm39)	E365G	probably benign	Het
E2f7	G	T	10: 110,599,851 (GRCm39)	R202L	probably damaging	Het
Fscb	A	C	12: 64,520,890 (GRCm39)	I192S	possibly damaging	Het
Fsip2	A	G	2: 82,817,844 (GRCm39)	I4526V	probably benign	Het
Gucy2e	A	T	11: 69,127,303 (GRCm39)	F57I	probably damaging	Het
Hcar2	A	T	5: 124,003,354 (GRCm39)	C50S	possibly damaging	Het
Herc1	G	A	9: 66,321,413 (GRCm39)	V1267I	probably benign	Het
Kansl1	A	T	11: 104,227,142 (GRCm39)	D845E	probably damaging	Het
Kdm2b	T	A	5: 123,070,679 (GRCm39)	T473S	probably benign	Het
Klhdc10	T	A	6: 30,449,499 (GRCm39)	I327N	probably damaging	Het
Kmt5b	T	C	19: 3,854,442 (GRCm39)	L235P	probably damaging	Het
Lama2	C	T	10: 27,204,181 (GRCm39)	E486K	possibly damaging	Het
Lhx6	A	T	2: 35,981,145 (GRCm39)	W266R	probably benign	Het
Mettl15	A	T	2: 109,104,810 (GRCm39)	L65*	probably null	Het
Mocos	A	G	18: 24,812,594 (GRCm39)	Q496R	probably benign	Het
Neb	T	C	2: 52,203,847 (GRCm39)	S285G	probably damaging	Het
Nos3	A	G	5: 24,582,611 (GRCm39)	N613S	probably benign	Het
Nphs2	G	A	1: 156,138,386 (GRCm39)	R10Q	probably benign	Het
Or2ag16	A	G	7: 106,352,430 (GRCm39)	L55P	probably damaging	Het
Or4x13	C	A	2: 90,231,716 (GRCm39)	T237N	probably damaging	Het
Or51i2	A	T	7: 103,689,875 (GRCm39)	I291F	possibly damaging	Het
Osbpl10	T	C	9: 114,996,294 (GRCm39)	C119R	probably damaging	Het
Otop1	T	C	5: 38,445,274 (GRCm39)	V144A	probably benign	Het
Pcdha11	A	G	18: 37,140,527 (GRCm39)	T719A	probably benign	Het
Pcdhga1	A	G	18: 37,973,084 (GRCm39)	N900D	probably damaging	Het
Pcdhga8	A	T	18: 37,859,163 (GRCm39)	Q73L	probably damaging	Het
Pclo	A	G	5: 14,590,204 (GRCm39)	K835E	unknown	Het
Psmd2	T	A	16: 20,473,412 (GRCm39)	Y158N	probably damaging	Het
Pygl	A	G	12: 70,243,822 (GRCm39)	V631A	probably damaging	Het
Rhoq	A	T	17: 87,304,405 (GRCm39)	I179F		Het
Rnf26rt	T	C	6: 76,473,566 (GRCm39)	D350G	probably benign	Het
Rps6kb1	T	C	11: 86,404,381 (GRCm39)	I257M	probably damaging	Het
Sall3	G	A	18: 81,017,124 (GRCm39)	A268V	probably benign	Het
Serinc4	G	A	2: 121,287,250 (GRCm39)		probably benign	Het
Slc27a2	T	A	2: 126,429,807 (GRCm39)	M605K	probably damaging	Het
Slc5a7	T	C	17: 54,594,389 (GRCm39)	I197M	probably benign	Het
Slc6a7	A	G	18: 61,133,649 (GRCm39)	Y516H	probably damaging	Het
Spag16	A	G	1: 69,963,007 (GRCm39)	T385A	unknown	Het
Stat6	G	A	10: 127,493,479 (GRCm39)	R600H	probably damaging	Het
Stk32b	A	G	5: 37,786,344 (GRCm39)	V40A	probably damaging	Het
Sv2c	T	A	13: 96,224,755 (GRCm39)	I185L	probably benign	Het
Syne2	T	A	12: 76,156,703 (GRCm39)	L2115H	probably damaging	Het
Tas2r121	T	C	6: 132,677,492 (GRCm39)	E160G	probably benign	Het
Tle1	G	T	4: 72,036,753 (GRCm39)	T727K	probably benign	Het
Tmem79	A	T	3: 88,240,764 (GRCm39)	D61E	probably benign	Het
Tnrc18	C	A	5: 142,773,602 (GRCm39)	R409L		Het
Tnrc6a	C	A	7: 122,789,176 (GRCm39)	P1665Q	probably damaging	Het
Tns2	C	A	15: 102,021,416 (GRCm39)	P1027Q	probably damaging	Het
Trav7-5	C	G	14: 53,768,615 (GRCm39)	A61G	probably benign	Het
Ttn	A	G	2: 76,745,255 (GRCm39)	S5265P	possibly damaging	Het
Tuba1c	T	A	15: 98,935,737 (GRCm39)	Y399*	probably null	Het
Vav2	A	T	2: 27,172,394 (GRCm39)	I504N	probably damaging	Het
Vmn2r5	G	T	3: 64,398,938 (GRCm39)	C680*	probably null	Het
Zfp644	G	C	5: 106,785,829 (GRCm39)	S239R	probably benign	Het
Zfp954	C	T	7: 7,118,933 (GRCm39)	G204S	probably damaging	Het
Zswim8	C	T	14: 20,769,588 (GRCm39)	T1265I	probably damaging	Het

Other mutations in Ovca2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01893:Ovca2	APN	11	75,069,133 (GRCm39)	missense	probably benign
IGL02198:Ovca2	APN	11	75,069,596 (GRCm39)	missense	possibly damaging	0.59
R1561:Ovca2	UTSW	11	75,068,805 (GRCm39)	missense	probably damaging	1.00
R6713:Ovca2	UTSW	11	75,069,569 (GRCm39)	missense	possibly damaging	0.95
R7220:Ovca2	UTSW	11	75,069,501 (GRCm39)	missense	possibly damaging	0.72
Z1186:Ovca2	UTSW	11	75,069,528 (GRCm39)	missense	probably benign
Z1187:Ovca2	UTSW	11	75,069,528 (GRCm39)	missense	probably benign
Z1188:Ovca2	UTSW	11	75,069,528 (GRCm39)	missense	probably benign
Z1189:Ovca2	UTSW	11	75,069,528 (GRCm39)	missense	probably benign
Z1190:Ovca2	UTSW	11	75,069,528 (GRCm39)	missense	probably benign
Z1191:Ovca2	UTSW	11	75,069,528 (GRCm39)	missense	probably benign
Z1192:Ovca2	UTSW	11	75,069,528 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TAACTAGCCATGGTGAGGAGAC -3'
(R):5'- TGATGGACTTCTTGGCTTCAGC -3'

Sequencing Primer
(F):5'- CTGCTGGACAAAGTGGGAGC -3'
(R):5'- CCAGGGGGCTGCACTAG -3'

Posted On

2022-02-07