Incidental Mutation 'R5730:Ovch2'
ID 452718
Institutional Source Beutler Lab
Gene Symbol Ovch2
Ensembl Gene ENSMUSG00000048236
Gene Name ovochymase 2
Synonyms 9230106D23Rik
MMRRC Submission 043191-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5730 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 107380751-107400386 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107392606 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 246 (C246R)
Ref Sequence ENSEMBL: ENSMUSP00000102366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106755]
AlphaFold Q7M761
Predicted Effect probably damaging
Transcript: ENSMUST00000106755
AA Change: C246R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102366
Gene: ENSMUSG00000048236
AA Change: C246R

DomainStartEndE-ValueType
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: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T C 19: 8,987,617 (GRCm39) V2967A possibly damaging Het
Apaf1 A T 10: 90,856,633 (GRCm39) I858K possibly damaging Het
Baiap3 T C 17: 25,466,498 (GRCm39) T466A probably benign Het
Brca2 T A 5: 150,492,470 (GRCm39) S3162T possibly damaging Het
Brd1 T G 15: 88,601,248 (GRCm39) N462T probably benign Het
Carm1 G A 9: 21,491,636 (GRCm39) R235H probably benign Het
Cd80 T C 16: 38,303,097 (GRCm39) probably null Het
Clip4 A G 17: 72,117,954 (GRCm39) Y333C probably damaging Het
Col7a1 T C 9: 108,801,310 (GRCm39) probably null Het
Csmd1 G A 8: 16,235,206 (GRCm39) Q1206* probably null Het
Cyp17a1 A G 19: 46,661,095 (GRCm39) I63T possibly damaging Het
Diaph1 A G 18: 38,036,829 (GRCm39) Y119H unknown Het
Dst T G 1: 34,156,607 (GRCm39) probably null Het
Fgfr1 A G 8: 26,063,827 (GRCm39) T785A probably damaging Het
Gm1553 A G 10: 82,323,945 (GRCm39) F94S unknown Het
Gpbar1 A G 1: 74,318,195 (GRCm39) N146S probably damaging Het
Gpc5 A G 14: 116,025,726 (GRCm39) T588A possibly damaging Het
Gramd2a A G 9: 59,618,489 (GRCm39) H9R probably damaging Het
Klk1b11 G A 7: 43,424,199 (GRCm39) S6N probably benign Het
Lrp1 A G 10: 127,419,703 (GRCm39) S969P probably benign Het
Lyz2 G T 10: 117,114,587 (GRCm39) A114E probably damaging Het
Madd T C 2: 90,988,454 (GRCm39) D1193G probably damaging Het
Mrpl39 C T 16: 84,529,322 (GRCm39) G107R probably damaging Het
Mthfd2 C T 6: 83,294,441 (GRCm39) R24H probably benign Het
Or2q1 C T 6: 42,795,094 (GRCm39) R230* probably null Het
Or4a68 T C 2: 89,269,780 (GRCm39) N281S probably damaging Het
Phf14 A T 6: 11,953,319 (GRCm39) I353F possibly damaging Het
Ppp2r5a C T 1: 191,104,732 (GRCm39) V105I probably benign Het
Prr14l T C 5: 32,950,947 (GRCm39) T1949A probably damaging Het
Prss48 T G 3: 85,904,563 (GRCm39) M212L possibly damaging Het
Pstk A T 7: 130,975,503 (GRCm39) D152V probably damaging Het
Scn2a C A 2: 65,512,882 (GRCm39) S214* probably null Het
Scn3a T G 2: 65,325,604 (GRCm39) N971T probably benign Het
Syne3 T C 12: 104,927,713 (GRCm39) I250V probably benign Het
Synpo2 T C 3: 122,907,768 (GRCm39) D516G probably benign Het
Tcea3 T C 4: 135,992,204 (GRCm39) V209A probably benign Het
Tnr A G 1: 159,715,892 (GRCm39) S885G probably benign Het
Trak2 T C 1: 58,960,966 (GRCm39) D188G probably damaging Het
Tubb1 A G 2: 174,299,562 (GRCm39) I415V probably benign Het
Virma T A 4: 11,542,154 (GRCm39) M1580K probably benign Het
Vmn1r120 A T 7: 20,786,934 (GRCm39) I259N possibly damaging Het
Vmn1r64 G A 7: 5,887,522 (GRCm39) T7I probably benign Het
Other mutations in Ovch2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00568:Ovch2 APN 7 107,388,297 (GRCm39) missense probably null 1.00
IGL02198:Ovch2 APN 7 107,394,041 (GRCm39) missense probably damaging 0.99
IGL02200:Ovch2 APN 7 107,394,030 (GRCm39) missense probably damaging 1.00
IGL02442:Ovch2 APN 7 107,395,755 (GRCm39) missense possibly damaging 0.90
IGL02531:Ovch2 APN 7 107,389,405 (GRCm39) missense probably damaging 1.00
IGL02862:Ovch2 APN 7 107,394,138 (GRCm39) missense probably damaging 1.00
R0401:Ovch2 UTSW 7 107,400,343 (GRCm39) missense probably damaging 0.98
R0413:Ovch2 UTSW 7 107,381,243 (GRCm39) missense probably benign
R0631:Ovch2 UTSW 7 107,381,228 (GRCm39) missense probably benign 0.01
R1028:Ovch2 UTSW 7 107,395,755 (GRCm39) missense probably benign 0.37
R1329:Ovch2 UTSW 7 107,384,653 (GRCm39) missense probably damaging 1.00
R1809:Ovch2 UTSW 7 107,389,412 (GRCm39) critical splice acceptor site probably null
R2254:Ovch2 UTSW 7 107,389,402 (GRCm39) missense probably benign 0.02
R2265:Ovch2 UTSW 7 107,383,782 (GRCm39) missense probably damaging 1.00
R2358:Ovch2 UTSW 7 107,394,122 (GRCm39) missense probably damaging 1.00
R2922:Ovch2 UTSW 7 107,389,596 (GRCm39) missense possibly damaging 0.88
R2923:Ovch2 UTSW 7 107,389,596 (GRCm39) missense possibly damaging 0.88
R3034:Ovch2 UTSW 7 107,384,699 (GRCm39) missense probably damaging 1.00
R3885:Ovch2 UTSW 7 107,395,775 (GRCm39) missense probably damaging 1.00
R3957:Ovch2 UTSW 7 107,388,318 (GRCm39) missense probably damaging 0.99
R4687:Ovch2 UTSW 7 107,395,755 (GRCm39) missense possibly damaging 0.90
R5307:Ovch2 UTSW 7 107,391,341 (GRCm39) missense probably benign 0.26
R5353:Ovch2 UTSW 7 107,393,631 (GRCm39) missense probably damaging 0.98
R5688:Ovch2 UTSW 7 107,393,201 (GRCm39) missense probably damaging 1.00
R5767:Ovch2 UTSW 7 107,381,185 (GRCm39) missense probably benign
R5979:Ovch2 UTSW 7 107,393,595 (GRCm39) missense possibly damaging 0.94
R6039:Ovch2 UTSW 7 107,388,318 (GRCm39) missense probably damaging 0.99
R6039:Ovch2 UTSW 7 107,388,318 (GRCm39) missense probably damaging 0.99
R6064:Ovch2 UTSW 7 107,395,779 (GRCm39) missense probably damaging 0.98
R6247:Ovch2 UTSW 7 107,384,648 (GRCm39) missense probably damaging 1.00
R6638:Ovch2 UTSW 7 107,388,301 (GRCm39) missense probably benign 0.17
R6877:Ovch2 UTSW 7 107,389,315 (GRCm39) missense probably benign 0.25
R7040:Ovch2 UTSW 7 107,395,772 (GRCm39) missense probably damaging 1.00
R7257:Ovch2 UTSW 7 107,393,640 (GRCm39) missense probably damaging 1.00
R7282:Ovch2 UTSW 7 107,393,577 (GRCm39) missense possibly damaging 0.94
R7824:Ovch2 UTSW 7 107,388,295 (GRCm39) critical splice donor site probably null
R7841:Ovch2 UTSW 7 107,393,298 (GRCm39) missense probably benign 0.01
R7908:Ovch2 UTSW 7 107,388,326 (GRCm39) missense probably damaging 1.00
R8427:Ovch2 UTSW 7 107,393,207 (GRCm39) missense probably damaging 1.00
R8745:Ovch2 UTSW 7 107,389,584 (GRCm39) missense possibly damaging 0.93
R8812:Ovch2 UTSW 7 107,393,251 (GRCm39) nonsense probably null
R8812:Ovch2 UTSW 7 107,392,462 (GRCm39) missense probably damaging 1.00
R9250:Ovch2 UTSW 7 107,392,542 (GRCm39) missense probably damaging 1.00
R9301:Ovch2 UTSW 7 107,395,815 (GRCm39) missense probably damaging 1.00
R9308:Ovch2 UTSW 7 107,389,560 (GRCm39) missense probably benign 0.03
R9703:Ovch2 UTSW 7 107,383,777 (GRCm39) missense probably damaging 1.00
R9717:Ovch2 UTSW 7 107,393,584 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCTCTTTACCCCGGTAGAAC -3'
(R):5'- TTGTAACCAGATATTCTCCCAGACC -3'

Sequencing Primer
(F):5'- CCCGGTAGAACTGTAGCTGTCTAAG -3'
(R):5'- CAGACCCCTGAGTCTTAATTGTTAG -3'
Posted On 2017-01-03