Mutagenetix > Incidental Mutations

Incidental Mutation 'R5688:Ovch2'

443505

Institutional Source

Beutler Lab

Gene Symbol

Ovch2

Ensembl Gene

ENSMUSG00000048236

Gene Name

ovochymase 2

Synonyms

MMRRC Submission

043321-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5688 (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 107793994 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 224 (L224P)

Ref Sequence

ENSEMBL: ENSMUSP00000102366 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000106755
AA Change: L224P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102366
Gene: ENSMUSG00000048236
AA Change: L224P

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

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	T	A	7: 34,253,991	T449S	possibly damaging	Het
4931406P16Rik	T	G	7: 34,284,709	D163A	probably damaging	Het
Acp7	G	A	7: 28,616,495	A222V	probably benign	Het
Ahnak	A	G	19: 9,002,519	D389G	probably benign	Het
Aldh1l2	A	T	10: 83,501,925	S559T	possibly damaging	Het
Alms1	T	A	6: 85,599,895	N144K	possibly damaging	Het
Anp32b	T	A	4: 46,469,868		probably null	Het
Atf7	C	T	15: 102,551,509	R57H	probably damaging	Het
Atp10b	A	T	11: 43,201,173	H345L	probably benign	Het
Cacna2d1	A	T	5: 16,358,952	I859F	probably damaging	Het
Calcr	T	A	6: 3,714,730		probably null	Het
Cd248	A	G	19: 5,069,935	T604A	probably benign	Het
Cemip	C	T	7: 83,961,641	V702M	probably damaging	Het
Cep295	G	T	9: 15,331,986	Q469K	probably damaging	Het
Cntn5	A	G	9: 9,748,422	W485R	probably damaging	Het
Cpe	T	C	8: 64,609,155	N289S	possibly damaging	Het
Cyp2j11	G	A	4: 96,345,121	R113C	probably damaging	Het
Dcp1b	T	C	6: 119,217,911	S531P	probably benign	Het
Defb7	T	G	8: 19,495,151	L15R	probably damaging	Het
Dnah2	C	T	11: 69,458,920	R2399Q	probably benign	Het
Ednrb	T	C	14: 103,823,395	D198G	probably damaging	Het
Engase	A	C	11: 118,487,320	E312A	possibly damaging	Het
Evl	G	A	12: 108,673,353		probably null	Het
Faf1	C	A	4: 109,794,813	Q234K	probably damaging	Het
Gm5460	C	A	14: 34,045,795	N453K	possibly damaging	Het
Gm7356	T	A	17: 14,000,607	I387F	possibly damaging	Het
Hagh	T	C	17: 24,850,594	M1T	probably null	Het
Hars	A	T	18: 36,772,316	V155E	probably damaging	Het
Hist1h1c	A	G	13: 23,739,165	K106R	probably damaging	Het
Lca5	C	A	9: 83,398,566	D394Y	probably benign	Het
Lmtk3	T	C	7: 45,791,410	L280P	probably damaging	Het
Lrit1	C	T	14: 37,062,428	A571V	possibly damaging	Het
Map4k2	C	A	19: 6,346,806	P584H	probably damaging	Het
Mgst1	T	C	6: 138,141,800		probably benign	Het
Neb	C	T	2: 52,196,327	V5245I	probably damaging	Het
Oas3	T	C	5: 120,758,802	N918S	probably benign	Het
Olfr1155	T	A	2: 87,943,208	Q140L	probably benign	Het
Olfr1204	C	T	2: 88,852,679	T243I	probably benign	Het
Olfr145	A	C	9: 37,898,063	I220L	possibly damaging	Het
Patj	A	T	4: 98,520,810	K34*	probably null	Het
Pcf11	T	A	7: 92,658,808	R717S	possibly damaging	Het
Plcb1	A	T	2: 135,335,480	E577D	probably benign	Het
Plxnb2	T	C	15: 89,158,696	K1497E	probably damaging	Het
Pyroxd1	C	A	6: 142,353,540	L141I	probably damaging	Het
Rhobtb3	G	T	13: 75,872,418	N588K	probably benign	Het
Rnasel	G	A	1: 153,753,706		probably benign	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Shank1	A	T	7: 44,354,487	I1868F	possibly damaging	Het
Skiv2l2	A	T	13: 112,873,056	C936*	probably null	Het
Slc28a3	A	T	13: 58,558,649	S593T	probably damaging	Het
Slc29a4	T	C	5: 142,714,098	I168T	possibly damaging	Het
Slc35f5	C	T	1: 125,591,038	P502L	probably benign	Het
Slco6d1	T	C	1: 98,480,768	I463T	probably damaging	Het
Slk	A	G	19: 47,620,012	D468G	probably benign	Het
Spata31d1d	G	T	13: 59,726,508	P1071Q	probably damaging	Het
Tert	G	A	13: 73,639,156	V754I	probably damaging	Het
Thada	T	C	17: 84,451,727	T235A	probably benign	Het
Ttn	T	C	2: 76,734,128	D28555G	probably damaging	Het
Ttn	T	A	2: 76,879,984		probably null	Het
Ubqln4	T	C	3: 88,565,268	L464P	probably damaging	Het
Unc45b	A	T	11: 82,922,817	N350I	possibly damaging	Het
Vmn2r65	T	C	7: 84,940,692	D672G	probably benign	Het
Zfp947	T	A	17: 22,146,085	I203L	probably benign	Het
Zfp964	T	A	8: 69,664,116	H454Q	probably benign	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
R2254:Ovch2	UTSW	7	107790195	missense	probably benign	0.02
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
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
R7924:Ovch2	UTSW	7	107794091	missense	probably benign	0.01
R7989:Ovch2	UTSW	7	107789119	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCATAATGAGTGGAGAACCTTG -3'
(R):5'- AAACTTGCATCCAGCTGGTG -3'

Sequencing Primer
(F):5'- TGGAGAACCTTGAGGGCTTCAC -3'
(R):5'- CTGATGAAAGTACAGGGCGTCTTC -3'

Posted On

2016-11-09