Incidental Mutation 'R5912:Or3a1c'
ID 461070
Institutional Source Beutler Lab
Gene Symbol Or3a1c
Ensembl Gene ENSMUSG00000070379
Gene Name olfactory receptor family 3 subfamily A member 1C
Synonyms MOR255-4, GA_x6K02T2P1NL-4307199-4308146, Olfr402
MMRRC Submission 044109-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R5912 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 74045982-74046929 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 74046046 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 22 (E22V)
Ref Sequence ENSEMBL: ENSMUSP00000151050 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073675] [ENSMUST00000216722]
AlphaFold Q8VFX8
Predicted Effect possibly damaging
Transcript: ENSMUST00000073675
AA Change: E22V

PolyPhen 2 Score 0.642 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000073356
Gene: ENSMUSG00000070379
AA Change: E22V

DomainStartEndE-ValueType
Pfam:7tm_4 34 311 9e-53 PFAM
Pfam:7TM_GPCR_Srsx 38 210 2.2e-6 PFAM
Pfam:7tm_1 44 293 9.9e-27 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000216722
AA Change: E22V

PolyPhen 2 Score 0.642 (Sensitivity: 0.87; Specificity: 0.91)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 100% (52/52)
MGI Phenotype FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik A T 15: 84,839,897 (GRCm39) C166S possibly damaging Het
Ahnak T A 19: 8,989,267 (GRCm39) M3517K probably damaging Het
Asap2 T C 12: 21,256,344 (GRCm39) V214A probably damaging Het
Atp13a4 A G 16: 29,275,389 (GRCm39) V365A probably benign Het
Bivm G T 1: 44,165,573 (GRCm39) G8* probably null Het
Cc2d2a A C 5: 43,877,772 (GRCm39) D1043A probably damaging Het
Cdh2 A C 18: 16,773,507 (GRCm39) I331S possibly damaging Het
Clip3 A C 7: 29,998,295 (GRCm39) D247A probably benign Het
Csf3r A T 4: 125,923,753 (GRCm39) I88F probably damaging Het
Cyp2j13 A T 4: 95,945,079 (GRCm39) N316K probably damaging Het
Dnah12 T A 14: 26,491,965 (GRCm39) C1133* probably null Het
Glud1 G A 14: 34,033,300 (GRCm39) probably null Het
Gm5805 A G 15: 81,857,018 (GRCm39) noncoding transcript Het
Gsg1l2 G T 11: 67,665,540 (GRCm39) probably null Het
Ikzf1 C A 11: 11,698,464 (GRCm39) S105* probably null Het
Kif18b A G 11: 102,803,817 (GRCm39) S448P probably benign Het
Klhl31 C A 9: 77,563,012 (GRCm39) N592K probably damaging Het
Kmt2c A G 5: 25,552,467 (GRCm39) F1239L possibly damaging Het
Lama5 A G 2: 179,837,268 (GRCm39) Y1014H probably damaging Het
Macf1 A C 4: 123,290,951 (GRCm39) L3980R probably damaging Het
Magi1 A T 6: 93,685,126 (GRCm39) S524T possibly damaging Het
Nlrp4f A T 13: 65,342,722 (GRCm39) Y308N probably damaging Het
Or1e33 A C 11: 73,738,501 (GRCm39) I150R possibly damaging Het
Rfx5 G A 3: 94,866,029 (GRCm39) probably benign Het
Scn1b C T 7: 30,817,228 (GRCm39) V165M probably damaging Het
Sema4c A C 1: 36,593,469 (GRCm39) V41G possibly damaging Het
Serpini1 G T 3: 75,523,914 (GRCm39) G174V probably benign Het
Sh2b1 T C 7: 126,070,642 (GRCm39) E353G probably damaging Het
Slc7a6 G T 8: 106,906,289 (GRCm39) V174L probably benign Het
Smg1 A T 7: 117,753,809 (GRCm39) probably benign Het
Spag9 A G 11: 93,935,251 (GRCm39) N21D probably damaging Het
Spdye4c C T 2: 128,437,994 (GRCm39) R245* probably null Het
Sulf1 A G 1: 12,856,976 (GRCm39) probably benign Het
Swt1 A G 1: 151,287,160 (GRCm39) S111P probably damaging Het
Syne2 G A 12: 75,955,721 (GRCm39) probably null Het
Tanc1 T C 2: 59,622,030 (GRCm39) V383A possibly damaging Het
Tbc1d10b G T 7: 126,799,033 (GRCm39) A491E probably damaging Het
Tek A G 4: 94,686,877 (GRCm39) T132A probably damaging Het
Traf3 A G 12: 111,221,783 (GRCm39) I290V probably benign Het
Traf5 A G 1: 191,730,030 (GRCm39) probably benign Het
Ttn A T 2: 76,640,687 (GRCm39) I13687N probably damaging Het
Unc5c A G 3: 141,494,767 (GRCm39) D415G probably damaging Het
Ust A G 10: 8,173,825 (GRCm39) Y227H probably benign Het
Vmn2r100 A G 17: 19,752,071 (GRCm39) N705D probably damaging Het
Wnk2 T C 13: 49,214,250 (GRCm39) E1444G probably damaging Het
Ylpm1 C T 12: 85,087,660 (GRCm39) P1148L probably damaging Het
Zbtb5 A G 4: 44,993,750 (GRCm39) S545P probably benign Het
Zfp710 A G 7: 79,731,222 (GRCm39) D133G probably benign Het
Zfp866 A T 8: 70,218,934 (GRCm39) C229S probably benign Het
Other mutations in Or3a1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01732:Or3a1c APN 11 74,046,279 (GRCm39) missense probably damaging 1.00
IGL03085:Or3a1c APN 11 74,046,511 (GRCm39) missense probably damaging 1.00
IGL03192:Or3a1c APN 11 74,046,076 (GRCm39) missense probably benign 0.13
IGL03230:Or3a1c APN 11 74,046,099 (GRCm39) missense probably benign
R1478:Or3a1c UTSW 11 74,045,963 (GRCm39) splice site probably null
R1573:Or3a1c UTSW 11 74,046,196 (GRCm39) missense probably benign 0.11
R1728:Or3a1c UTSW 11 74,046,802 (GRCm39) missense probably damaging 0.99
R1912:Or3a1c UTSW 11 74,046,711 (GRCm39) missense probably damaging 1.00
R2030:Or3a1c UTSW 11 74,046,769 (GRCm39) missense possibly damaging 0.94
R3151:Or3a1c UTSW 11 74,046,466 (GRCm39) missense probably damaging 0.99
R4428:Or3a1c UTSW 11 74,046,025 (GRCm39) missense probably damaging 1.00
R4796:Or3a1c UTSW 11 74,046,417 (GRCm39) missense probably benign 0.02
R4974:Or3a1c UTSW 11 74,046,745 (GRCm39) missense probably benign 0.42
R4996:Or3a1c UTSW 11 74,046,157 (GRCm39) missense probably damaging 1.00
R5308:Or3a1c UTSW 11 74,046,397 (GRCm39) missense probably damaging 0.99
R6083:Or3a1c UTSW 11 74,046,396 (GRCm39) missense possibly damaging 0.92
R7131:Or3a1c UTSW 11 74,046,606 (GRCm39) missense probably benign 0.02
R7460:Or3a1c UTSW 11 74,046,672 (GRCm39) missense probably damaging 0.99
R7540:Or3a1c UTSW 11 74,046,414 (GRCm39) missense probably benign 0.00
R7795:Or3a1c UTSW 11 74,046,844 (GRCm39) missense probably damaging 1.00
R8550:Or3a1c UTSW 11 74,046,015 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGTCAAGCACTCCCAGTTCC -3'
(R):5'- TAGTGACACTGATGCACCCC -3'

Sequencing Primer
(F):5'- AAGCACTCCCAGTTCCTTTAAC -3'
(R):5'- TGACACTGATGCACCCCACATC -3'
Posted On 2017-02-28