Mutagenetix > Incidental Mutation

Incidental Mutation 'R2254:Ovch2'

241874

Institutional Source

Beutler Lab

Gene Symbol

Ovch2

Ensembl Gene

ENSMUSG00000048236

Gene Name

ovochymase 2

Synonyms

MMRRC Submission

040254-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2254 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107781544-107801208 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107790195 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 342 (V342A)

Ref Sequence

ENSEMBL: ENSMUSP00000102366 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106755]

AlphaFold

Q7M761

Predicted Effect

probably benign
Transcript: ENSMUST00000106755
AA Change: V342A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000102366
Gene: ENSMUSG00000048236
AA Change: V342A

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Tryp_SPc	51	294	6.58e-93	SMART
CUB	314	421	1.68e-17	SMART
CUB	431	543	5.02e-25	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207742

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208448

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	G	T	7: 131,222,905	C243F	probably damaging	Het
Actn2	T	C	13: 12,296,479	E260G	probably benign	Het
AI429214	G	T	8: 36,993,766	D23Y	possibly damaging	Het
Alms1	A	G	6: 85,619,848	Y1021C	probably damaging	Het
Ang5	A	G	14: 43,962,617	D46G	probably benign	Het
Ano9	T	A	7: 141,103,090	D635V	probably benign	Het
Apob	C	T	12: 8,011,256	T3246I	possibly damaging	Het
Arhgef25	T	C	10: 127,189,521	E63G	probably benign	Het
B3gnt4	A	C	5: 123,511,279	I236L	probably damaging	Het
Bmper	T	A	9: 23,381,463	I356N	possibly damaging	Het
Capn3	A	G	2: 120,501,251	E614G	probably benign	Het
Ccdc90b	T	A	7: 92,572,568	H118Q	probably damaging	Het
Cdh2	A	T	18: 16,643,928		probably null	Het
Chmp7	C	T	14: 69,720,956	V255I	probably damaging	Het
Dnhd1	T	A	7: 105,703,772	S2711T	probably damaging	Het
Gabrg1	T	A	5: 70,782,364	K137*	probably null	Het
Gdi2	T	A	13: 3,554,400		probably null	Het
Glyr1	A	G	16: 5,019,013	V429A	probably benign	Het
Gm5938	T	A	X: 78,128,555		probably null	Het
Golt1b	T	C	6: 142,396,253	L121P	probably damaging	Het
Gpi1	T	C	7: 34,202,877	N471S	probably damaging	Het
Ifi204	G	A	1: 173,761,730	T45M	possibly damaging	Het
Il18r1	A	G	1: 40,491,220	N369S	possibly damaging	Het
Kcnh1	G	T	1: 192,505,414		probably null	Het
Kitl	G	A	10: 100,080,131		probably null	Het
Krt33a	A	T	11: 100,014,178	D167E	possibly damaging	Het
Lax1	A	G	1: 133,680,233	S257P	probably damaging	Het
Lepr	T	C	4: 101,815,112	I1111T	probably benign	Het
Lrrcc1	G	A	3: 14,547,255	R356H	probably damaging	Het
Map1a	A	G	2: 121,303,791	D1458G	possibly damaging	Het
Med11	T	C	11: 70,452,095		probably null	Het
Mtmr2	T	C	9: 13,796,057	Y230H	possibly damaging	Het
Nup93	T	C	8: 94,227,857		probably null	Het
Olfr610	A	G	7: 103,506,064	V294A	probably damaging	Het
Ovgp1	A	G	3: 105,986,912		probably benign	Het
Oxtr	A	T	6: 112,489,106	L231Q	probably damaging	Het
Prap1	A	G	7: 140,096,162	T30A	probably damaging	Het
Scg2	G	A	1: 79,436,500	P169S	probably damaging	Het
Scube2	A	G	7: 109,825,459	V549A	possibly damaging	Het
Slc22a12	A	T	19: 6,542,541	V57D	possibly damaging	Het
Slc22a28	A	C	19: 8,064,493	C450G	probably benign	Het
Tas2r120	A	T	6: 132,657,609	Q218L	probably benign	Het
Tbx15	A	G	3: 99,351,874	T354A	possibly damaging	Het
Trim24	A	G	6: 37,958,677	T868A	probably benign	Het
Ttn	T	A	2: 76,768,340	M19410L	possibly damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Upb1	G	A	10: 75,436,217	R288H	probably damaging	Het
Wdr20rt	T	A	12: 65,226,233	W56R	probably damaging	Het
Wdr62	T	G	7: 30,267,903	I309L	probably damaging	Het
Zer1	G	A	2: 30,108,274	L342F	probably damaging	Het
Zfp40	T	C	17: 23,178,370	D51G	possibly damaging	Het
Zfp64	G	A	2: 168,926,742	H317Y	probably damaging	Het

Other mutations in Ovch2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00568:Ovch2	APN	7	107789090	missense	probably null	1.00
IGL02198:Ovch2	APN	7	107794834	missense	probably damaging	0.99
IGL02200:Ovch2	APN	7	107794823	missense	probably damaging	1.00
IGL02442:Ovch2	APN	7	107796548	missense	possibly damaging	0.90
IGL02531:Ovch2	APN	7	107790198	missense	probably damaging	1.00
IGL02862:Ovch2	APN	7	107794931	missense	probably damaging	1.00
R0401:Ovch2	UTSW	7	107801136	missense	probably damaging	0.98
R0413:Ovch2	UTSW	7	107782036	missense	probably benign
R0631:Ovch2	UTSW	7	107782021	missense	probably benign	0.01
R1028:Ovch2	UTSW	7	107796548	missense	probably benign	0.37
R1329:Ovch2	UTSW	7	107785446	missense	probably damaging	1.00
R1809:Ovch2	UTSW	7	107790205	critical splice acceptor site	probably null
R2265:Ovch2	UTSW	7	107784575	missense	probably damaging	1.00
R2358:Ovch2	UTSW	7	107794915	missense	probably damaging	1.00
R2922:Ovch2	UTSW	7	107790389	missense	possibly damaging	0.88
R2923:Ovch2	UTSW	7	107790389	missense	possibly damaging	0.88
R3034:Ovch2	UTSW	7	107785492	missense	probably damaging	1.00
R3885:Ovch2	UTSW	7	107796568	missense	probably damaging	1.00
R3957:Ovch2	UTSW	7	107789111	missense	probably damaging	0.99
R4687:Ovch2	UTSW	7	107796548	missense	possibly damaging	0.90
R5307:Ovch2	UTSW	7	107792134	missense	probably benign	0.26
R5353:Ovch2	UTSW	7	107794424	missense	probably damaging	0.98
R5688:Ovch2	UTSW	7	107793994	missense	probably damaging	1.00
R5730:Ovch2	UTSW	7	107793399	missense	probably damaging	1.00
R5767:Ovch2	UTSW	7	107781978	missense	probably benign
R5979:Ovch2	UTSW	7	107794388	missense	possibly damaging	0.94
R6039:Ovch2	UTSW	7	107789111	missense	probably damaging	0.99
R6039:Ovch2	UTSW	7	107789111	missense	probably damaging	0.99
R6064:Ovch2	UTSW	7	107796572	missense	probably damaging	0.98
R6247:Ovch2	UTSW	7	107785441	missense	probably damaging	1.00
R6638:Ovch2	UTSW	7	107789094	missense	probably benign	0.17
R6877:Ovch2	UTSW	7	107790108	missense	probably benign	0.25
R7040:Ovch2	UTSW	7	107796565	missense	probably damaging	1.00
R7257:Ovch2	UTSW	7	107794433	missense	probably damaging	1.00
R7282:Ovch2	UTSW	7	107794370	missense	possibly damaging	0.94
R7824:Ovch2	UTSW	7	107789088	critical splice donor site	probably null
R7841:Ovch2	UTSW	7	107794091	missense	probably benign	0.01
R7908:Ovch2	UTSW	7	107789119	missense	probably damaging	1.00
R8427:Ovch2	UTSW	7	107794000	missense	probably damaging	1.00
R8745:Ovch2	UTSW	7	107790377	missense	possibly damaging	0.93
R8812:Ovch2	UTSW	7	107793255	missense	probably damaging	1.00
R8812:Ovch2	UTSW	7	107794044	nonsense	probably null
R9250:Ovch2	UTSW	7	107793335	missense	probably damaging	1.00
R9301:Ovch2	UTSW	7	107796608	missense	probably damaging	1.00
R9308:Ovch2	UTSW	7	107790353	missense	probably benign	0.03
R9703:Ovch2	UTSW	7	107784570	missense	probably damaging	1.00
R9717:Ovch2	UTSW	7	107794377	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAGGAGACTGCTGCATTTACG -3'
(R):5'- GAGCTGCACTTCCCAGAAAG -3'

Sequencing Primer
(F):5'- CTCCATGTCAGACATATTGTGACCAG -3'
(R):5'- GCCTCCACCTGTACTATGAGAG -3'

Posted On

2014-10-16