Mutagenetix > Incidental Mutation

Incidental Mutation 'R5979:Ovch2'

481310

Institutional Source

Beutler Lab

Gene Symbol

Ovch2

Ensembl Gene

ENSMUSG00000048236

Gene Name

ovochymase 2

Synonyms

MMRRC Submission

044161-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5979 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107781544-107801208 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 107794388 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 177 (T177I)

Ref Sequence

ENSEMBL: ENSMUSP00000102366 (fasta)

Gene Model

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

AlphaFold

Q7M761

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106755
AA Change: T177I

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000102366
Gene: ENSMUSG00000048236
AA Change: T177I

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

Meta Mutation Damage Score

0.2666

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.4%

Validation Efficiency

100% (87/87)

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	A	G	2: 155,522,109 (GRCm38)	I103V	possibly damaging	Het
Adam3	T	C	8: 24,677,367 (GRCm38)	N36S	probably benign	Het
Adamts3	A	G	5: 89,861,669 (GRCm38)	V45A	probably damaging	Het
Afg3l2	G	T	18: 67,421,259 (GRCm38)	L458M	probably damaging	Het
Agtpbp1	A	T	13: 59,534,046 (GRCm38)	L69*	probably null	Het
Alkbh5	T	A	11: 60,538,691 (GRCm38)	I90N	probably damaging	Het
Alx1	T	C	10: 103,022,259 (GRCm38)	Y193C	probably damaging	Het
Ankrd11	T	G	8: 122,892,400 (GRCm38)	D1571A	probably damaging	Het
Brd4	T	C	17: 32,198,726 (GRCm38)	D124G	probably benign	Het
C2cd2	G	A	16: 97,875,218 (GRCm38)	T443I	probably benign	Het
Casp8	A	T	1: 58,828,912 (GRCm38)	M171L	probably benign	Het
Cd200r4	G	A	16: 44,832,932 (GRCm38)	V22I	probably benign	Het
Cdcp2	A	G	4: 107,105,281 (GRCm38)	Y217C	probably damaging	Het
Cfh	C	A	1: 140,118,671 (GRCm38)	V556F	possibly damaging	Het
Chka	T	G	19: 3,884,513 (GRCm38)	I182M	probably damaging	Het
Cope	T	C	8: 70,302,543 (GRCm38)		probably null	Het
Coq10b	T	C	1: 55,052,918 (GRCm38)	V15A	probably benign	Het
Cpne9	T	A	6: 113,293,749 (GRCm38)	S309T	probably benign	Het
Daam2	T	A	17: 49,459,204 (GRCm38)	H992L	possibly damaging	Het
Dctn3	T	C	4: 41,715,393 (GRCm38)		probably null	Het
Dhx35	G	T	2: 158,842,869 (GRCm38)	R536L	probably benign	Het
Dnah8	G	T	17: 30,815,664 (GRCm38)	E4186*	probably null	Het
Dnah9	A	G	11: 65,834,481 (GRCm38)	L4282P	probably damaging	Het
Dpp10	A	G	1: 123,384,283 (GRCm38)		probably null	Het
Dst	T	A	1: 34,160,372 (GRCm38)		probably benign	Het
Ehbp1	C	A	11: 22,151,887 (GRCm38)	V214L	probably benign	Het
Fam131b	T	C	6: 42,321,971 (GRCm38)	D25G	probably damaging	Het
Fbxl13	T	A	5: 21,582,091 (GRCm38)	I283F	probably damaging	Het
Gabrr3	T	G	16: 59,434,568 (GRCm38)	N205K	possibly damaging	Het
Got1l1	C	T	8: 27,197,923 (GRCm38)		probably null	Het
Gprin1	G	A	13: 54,739,978 (GRCm38)	A161V	probably benign	Het
Hepacam2	A	T	6: 3,476,149 (GRCm38)	F183I	probably damaging	Het
Hmx2	A	G	7: 131,554,550 (GRCm38)	T82A	probably benign	Het
Igsf10	C	T	3: 59,336,473 (GRCm38)	E147K	probably damaging	Het
Kndc1	G	A	7: 139,939,827 (GRCm38)	A1700T	probably benign	Het
Knl1	T	C	2: 119,069,360 (GRCm38)	V514A	possibly damaging	Het
Lama2	T	C	10: 27,235,732 (GRCm38)	D764G	probably damaging	Het
Lgi3	G	A	14: 70,536,460 (GRCm38)	R358H	probably damaging	Het
Limd1	G	T	9: 123,479,414 (GRCm38)	Q59H	possibly damaging	Het
Lrrk2	A	G	15: 91,772,945 (GRCm38)	Y1814C	possibly damaging	Het
Lysmd3	G	A	13: 81,665,274 (GRCm38)		probably null	Het
Mroh7	T	C	4: 106,720,926 (GRCm38)	N185S	probably benign	Het
Muc2	A	G	7: 141,697,250 (GRCm38)		probably null	Het
Muc2	G	A	7: 141,751,406 (GRCm38)	G149D	probably damaging	Het
Nlrp3	T	C	11: 59,548,971 (GRCm38)	F458S	probably benign	Het
Nop58	A	T	1: 59,702,831 (GRCm38)	D173V	probably damaging	Het
Nrxn1	C	T	17: 91,088,203 (GRCm38)	R175H	possibly damaging	Het
Nxpe4	A	G	9: 48,396,562 (GRCm38)	N322S	probably benign	Het
Ocstamp	A	G	2: 165,397,547 (GRCm38)	S240P	probably damaging	Het
Olfr137	T	C	17: 38,305,192 (GRCm38)	K90E	probably benign	Het
Olfr311	A	G	11: 58,841,840 (GRCm38)	H242R	probably damaging	Het
Olfr713	G	A	7: 107,036,336 (GRCm38)	M60I	probably damaging	Het
Olfr883	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 38,026,540 (GRCm38)		probably null	Het
Parn	A	C	16: 13,606,171 (GRCm38)	L454R	probably damaging	Het
Pcdhb12	T	A	18: 37,437,991 (GRCm38)	L730Q	possibly damaging	Het
Phf3	G	T	1: 30,805,746 (GRCm38)	F1377L	probably damaging	Het
Pign	G	T	1: 105,589,274 (GRCm38)	S542R	probably benign	Het
Prex2	G	T	1: 11,132,372 (GRCm38)	V502F	probably damaging	Het
Psmd1	A	T	1: 86,090,053 (GRCm38)	I529F	possibly damaging	Het
Ptafr	A	G	4: 132,579,305 (GRCm38)	E2G	probably benign	Het
R3hdm1	A	G	1: 128,211,223 (GRCm38)	N380S	probably benign	Het
Rbm12	A	C	2: 156,097,759 (GRCm38)		probably benign	Het
Rgl1	A	G	1: 152,557,493 (GRCm38)	Y174H	probably damaging	Het
Rps6kc1	A	G	1: 190,800,435 (GRCm38)	S457P	probably damaging	Het
Sall4	A	T	2: 168,750,343 (GRCm38)	S964T	probably benign	Het
Sart1	T	A	19: 5,381,223 (GRCm38)	I681F	probably damaging	Het
Serinc5	T	C	13: 92,661,136 (GRCm38)	L49P	probably benign	Het
Serpinb9e	T	C	13: 33,255,053 (GRCm38)	V154A	probably benign	Het
Skiv2l	A	T	17: 34,841,463 (GRCm38)	N851K	probably benign	Het
Smox	G	A	2: 131,516,414 (GRCm38)	V136I	probably damaging	Het
Sspo	C	T	6: 48,463,693 (GRCm38)	T1747I	probably benign	Het
Swt1	A	T	1: 151,407,588 (GRCm38)	D339E	possibly damaging	Het
Synpo2	A	G	3: 123,117,411 (GRCm38)	L195P	probably damaging	Het
Syt7	G	T	19: 10,443,479 (GRCm38)	G414W	probably damaging	Het
Tmem186	G	A	16: 8,636,160 (GRCm38)	T79I	probably damaging	Het
Tmem39a	A	T	16: 38,575,744 (GRCm38)	N113I	probably damaging	Het
Trim14	C	T	4: 46,507,239 (GRCm38)	V326M	probably damaging	Het
Trim58	A	G	11: 58,646,083 (GRCm38)	E234G	probably damaging	Het
Ttr	T	C	18: 20,670,002 (GRCm38)	L75P	probably damaging	Het
Ubr1	C	T	2: 120,946,382 (GRCm38)	V293I	probably benign	Het
Vmn1r91	T	A	7: 20,102,065 (GRCm38)	V303E	probably benign	Het
Vmn2r30	A	C	7: 7,312,335 (GRCm38)	I833S	probably damaging	Het
Zfp131	G	T	13: 119,776,446 (GRCm38)	N125K	probably benign	Het
Zfp169	A	T	13: 48,491,040 (GRCm38)		probably benign	Het
Zfp213	C	A	17: 23,557,911 (GRCm38)	E386*	probably null	Het

Other mutations in Ovch2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00568:Ovch2	APN	7	107,789,090 (GRCm38)	missense	probably null	1.00
IGL02198:Ovch2	APN	7	107,794,834 (GRCm38)	missense	probably damaging	0.99
IGL02200:Ovch2	APN	7	107,794,823 (GRCm38)	missense	probably damaging	1.00
IGL02442:Ovch2	APN	7	107,796,548 (GRCm38)	missense	possibly damaging	0.90
IGL02531:Ovch2	APN	7	107,790,198 (GRCm38)	missense	probably damaging	1.00
IGL02862:Ovch2	APN	7	107,794,931 (GRCm38)	missense	probably damaging	1.00
R0401:Ovch2	UTSW	7	107,801,136 (GRCm38)	missense	probably damaging	0.98
R0413:Ovch2	UTSW	7	107,782,036 (GRCm38)	missense	probably benign
R0631:Ovch2	UTSW	7	107,782,021 (GRCm38)	missense	probably benign	0.01
R1028:Ovch2	UTSW	7	107,796,548 (GRCm38)	missense	probably benign	0.37
R1329:Ovch2	UTSW	7	107,785,446 (GRCm38)	missense	probably damaging	1.00
R1809:Ovch2	UTSW	7	107,790,205 (GRCm38)	critical splice acceptor site	probably null
R2254:Ovch2	UTSW	7	107,790,195 (GRCm38)	missense	probably benign	0.02
R2265:Ovch2	UTSW	7	107,784,575 (GRCm38)	missense	probably damaging	1.00
R2358:Ovch2	UTSW	7	107,794,915 (GRCm38)	missense	probably damaging	1.00
R2922:Ovch2	UTSW	7	107,790,389 (GRCm38)	missense	possibly damaging	0.88
R2923:Ovch2	UTSW	7	107,790,389 (GRCm38)	missense	possibly damaging	0.88
R3034:Ovch2	UTSW	7	107,785,492 (GRCm38)	missense	probably damaging	1.00
R3885:Ovch2	UTSW	7	107,796,568 (GRCm38)	missense	probably damaging	1.00
R3957:Ovch2	UTSW	7	107,789,111 (GRCm38)	missense	probably damaging	0.99
R4687:Ovch2	UTSW	7	107,796,548 (GRCm38)	missense	possibly damaging	0.90
R5307:Ovch2	UTSW	7	107,792,134 (GRCm38)	missense	probably benign	0.26
R5353:Ovch2	UTSW	7	107,794,424 (GRCm38)	missense	probably damaging	0.98
R5688:Ovch2	UTSW	7	107,793,994 (GRCm38)	missense	probably damaging	1.00
R5730:Ovch2	UTSW	7	107,793,399 (GRCm38)	missense	probably damaging	1.00
R5767:Ovch2	UTSW	7	107,781,978 (GRCm38)	missense	probably benign
R6039:Ovch2	UTSW	7	107,789,111 (GRCm38)	missense	probably damaging	0.99
R6039:Ovch2	UTSW	7	107,789,111 (GRCm38)	missense	probably damaging	0.99
R6064:Ovch2	UTSW	7	107,796,572 (GRCm38)	missense	probably damaging	0.98
R6247:Ovch2	UTSW	7	107,785,441 (GRCm38)	missense	probably damaging	1.00
R6638:Ovch2	UTSW	7	107,789,094 (GRCm38)	missense	probably benign	0.17
R6877:Ovch2	UTSW	7	107,790,108 (GRCm38)	missense	probably benign	0.25
R7040:Ovch2	UTSW	7	107,796,565 (GRCm38)	missense	probably damaging	1.00
R7257:Ovch2	UTSW	7	107,794,433 (GRCm38)	missense	probably damaging	1.00
R7282:Ovch2	UTSW	7	107,794,370 (GRCm38)	missense	possibly damaging	0.94
R7824:Ovch2	UTSW	7	107,789,088 (GRCm38)	critical splice donor site	probably null
R7841:Ovch2	UTSW	7	107,794,091 (GRCm38)	missense	probably benign	0.01
R7908:Ovch2	UTSW	7	107,789,119 (GRCm38)	missense	probably damaging	1.00
R8427:Ovch2	UTSW	7	107,794,000 (GRCm38)	missense	probably damaging	1.00
R8745:Ovch2	UTSW	7	107,790,377 (GRCm38)	missense	possibly damaging	0.93
R8812:Ovch2	UTSW	7	107,794,044 (GRCm38)	nonsense	probably null
R8812:Ovch2	UTSW	7	107,793,255 (GRCm38)	missense	probably damaging	1.00
R9250:Ovch2	UTSW	7	107,793,335 (GRCm38)	missense	probably damaging	1.00
R9301:Ovch2	UTSW	7	107,796,608 (GRCm38)	missense	probably damaging	1.00
R9308:Ovch2	UTSW	7	107,790,353 (GRCm38)	missense	probably benign	0.03
R9703:Ovch2	UTSW	7	107,784,570 (GRCm38)	missense	probably damaging	1.00
R9717:Ovch2	UTSW	7	107,794,377 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTACTTTCATCAGCACCAGC -3'
(R):5'- AGATGCCAGGCTGATCCTTAAG -3'

Sequencing Primer
(F):5'- GGAAGGATCTCAATTTCCTAAGCGC -3'
(R):5'- CAGGCTGATCCTTAAGAGGTC -3'

Posted On

2017-06-26