Incidental Mutation 'R0667:Or4a2'
ID 218541
Institutional Source Beutler Lab
Gene Symbol Or4a2
Ensembl Gene ENSMUSG00000075088
Gene Name olfactory receptor family 4 subfamily A member 2
Synonyms GA_x6K02T2Q125-50861284-50860367, Olfr1239, MOR231-3
MMRRC Submission 038852-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R0667 (G1)
Quality Score 62
Status Validated
Chromosome 2
Chromosomal Location 89247838-89248755 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89248032 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 242 (I242V)
Ref Sequence ENSEMBL: ENSMUSP00000149898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099780] [ENSMUST00000216762] [ENSMUST00000217181]
AlphaFold Q8VGM8
Predicted Effect probably benign
Transcript: ENSMUST00000099780
AA Change: I242V

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000097368
Gene: ENSMUSG00000075088
AA Change: I242V

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.5e-46 PFAM
Pfam:7tm_1 39 285 3.7e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216762
AA Change: I242V

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000217181
AA Change: I242V

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 94.8%
Validation Efficiency 98% (64/65)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 G T 11: 110,218,637 (GRCm39) N76K probably benign Het
Adamts12 C T 15: 11,215,710 (GRCm39) R244C probably damaging Het
Atad2 A G 15: 57,962,115 (GRCm39) S1143P probably benign Het
Avl9 G T 6: 56,713,468 (GRCm39) R242L probably benign Het
Cand1 A G 10: 119,052,425 (GRCm39) S234P probably benign Het
Cd200 T A 16: 45,215,220 (GRCm39) I144L probably benign Het
Cep76 A T 18: 67,767,848 (GRCm39) L228Q possibly damaging Het
Col12a1 A G 9: 79,535,744 (GRCm39) L2584S probably damaging Het
Col6a3 A C 1: 90,755,823 (GRCm39) D155E probably damaging Het
Col6a4 G A 9: 105,907,158 (GRCm39) probably benign Het
Dsg2 A C 18: 20,706,556 (GRCm39) D24A possibly damaging Het
Gm5901 G A 7: 105,026,697 (GRCm39) S155N possibly damaging Het
Hkdc1 T C 10: 62,247,644 (GRCm39) probably benign Het
Kansl1 A G 11: 104,234,364 (GRCm39) V714A probably benign Het
Kcnh1 T A 1: 192,188,346 (GRCm39) S936T probably benign Het
Klhdc3 A T 17: 46,988,151 (GRCm39) F205I probably benign Het
Krt31 T A 11: 99,938,951 (GRCm39) H290L probably benign Het
Lama2 T A 10: 27,220,406 (GRCm39) probably null Het
Mep1a T G 17: 43,789,081 (GRCm39) D565A probably benign Het
Mgme1 T A 2: 144,120,907 (GRCm39) probably benign Het
Mtf2 C T 5: 108,252,369 (GRCm39) T409I probably damaging Het
Mylk3 A G 8: 86,081,794 (GRCm39) probably null Het
Myo1c A G 11: 75,559,338 (GRCm39) E650G probably damaging Het
Nipbl A C 15: 8,390,488 (GRCm39) D260E possibly damaging Het
Nufip2 T A 11: 77,582,839 (GRCm39) V251D possibly damaging Het
Or2n1e C A 17: 38,586,048 (GRCm39) P129T probably damaging Het
Or7g35 T A 9: 19,496,743 (GRCm39) N303K probably benign Het
Osm G T 11: 4,189,918 (GRCm39) R234L possibly damaging Het
Pabpc1 G A 15: 36,598,275 (GRCm39) A515V probably benign Het
Piwil1 T A 5: 128,818,542 (GRCm39) probably null Het
Pld1 A G 3: 28,133,327 (GRCm39) probably null Het
Plekhg3 C T 12: 76,623,372 (GRCm39) R871C probably damaging Het
Ppfia2 A T 10: 106,749,555 (GRCm39) Y1147F probably damaging Het
Prmt3 A G 7: 49,441,743 (GRCm39) Y240C probably damaging Het
Prr36 G T 8: 4,266,311 (GRCm39) probably benign Het
Ptprd A G 4: 75,875,583 (GRCm39) I908T probably damaging Het
Sae1 A T 7: 16,102,457 (GRCm39) N172K probably damaging Het
Satb1 T G 17: 52,089,889 (GRCm39) Q319H probably damaging Het
Scart2 C G 7: 139,841,450 (GRCm39) S251R possibly damaging Het
Scn2a A T 2: 65,582,340 (GRCm39) I1563F possibly damaging Het
Scn3a C A 2: 65,314,755 (GRCm39) R1102L probably null Het
Serpinb9b T A 13: 33,216,909 (GRCm39) L60* probably null Het
Setd1a A G 7: 127,385,765 (GRCm39) D281G probably damaging Het
Slc8a1 C A 17: 81,956,310 (GRCm39) V243F probably damaging Het
Tgfbr3 A T 5: 107,325,716 (GRCm39) H115Q probably benign Het
Tiam1 C A 16: 89,694,872 (GRCm39) S195I probably damaging Het
Tjp2 A G 19: 24,086,113 (GRCm39) V803A probably benign Het
Ttc5 T A 14: 51,003,415 (GRCm39) Q423L probably benign Het
Tyk2 A C 9: 21,020,167 (GRCm39) V997G probably damaging Het
Uhrf1 T C 17: 56,617,677 (GRCm39) V133A probably benign Het
Vmn2r107 A C 17: 20,575,916 (GRCm39) Y82S possibly damaging Het
Vmn2r93 T C 17: 18,546,503 (GRCm39) F792L probably damaging Het
Vps13c G A 9: 67,858,855 (GRCm39) W2768* probably null Het
Zfp456 A T 13: 67,514,861 (GRCm39) C282S probably benign Het
Zhx1 T C 15: 57,916,561 (GRCm39) N562D possibly damaging Het
Zmynd15 G T 11: 70,355,944 (GRCm39) G481C probably damaging Het
Other mutations in Or4a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03186:Or4a2 APN 2 89,248,188 (GRCm39) missense probably damaging 0.99
PIT4810001:Or4a2 UTSW 2 89,248,297 (GRCm39) missense probably damaging 1.00
R0271:Or4a2 UTSW 2 89,248,502 (GRCm39) missense probably benign 0.00
R0521:Or4a2 UTSW 2 89,248,544 (GRCm39) missense probably damaging 1.00
R1738:Or4a2 UTSW 2 89,248,362 (GRCm39) missense probably benign 0.02
R1955:Or4a2 UTSW 2 89,248,755 (GRCm39) start codon destroyed probably damaging 1.00
R3114:Or4a2 UTSW 2 89,248,757 (GRCm39) splice site probably null
R4110:Or4a2 UTSW 2 89,248,444 (GRCm39) missense probably benign 0.01
R4111:Or4a2 UTSW 2 89,248,444 (GRCm39) missense probably benign 0.01
R4796:Or4a2 UTSW 2 89,248,235 (GRCm39) missense probably damaging 0.99
R4951:Or4a2 UTSW 2 89,248,116 (GRCm39) missense probably benign 0.01
R5751:Or4a2 UTSW 2 89,248,031 (GRCm39) missense probably damaging 1.00
R6331:Or4a2 UTSW 2 89,248,695 (GRCm39) missense probably benign 0.04
R7249:Or4a2 UTSW 2 89,248,217 (GRCm39) missense probably damaging 1.00
R7352:Or4a2 UTSW 2 89,248,311 (GRCm39) missense probably damaging 1.00
R7476:Or4a2 UTSW 2 89,247,843 (GRCm39) missense possibly damaging 0.69
R7493:Or4a2 UTSW 2 89,248,145 (GRCm39) missense probably benign 0.08
R7589:Or4a2 UTSW 2 89,248,724 (GRCm39) missense possibly damaging 0.82
R9091:Or4a2 UTSW 2 89,248,712 (GRCm39) missense probably damaging 1.00
R9270:Or4a2 UTSW 2 89,248,712 (GRCm39) missense probably damaging 1.00
R9749:Or4a2 UTSW 2 89,248,662 (GRCm39) missense possibly damaging 0.79
Predicted Primers PCR Primer
(F):5'- AGAGTGACTCCCTTTCTTAGTGCCC -3'
(R):5'- ATTGGCCTGCACAGACACCTATG -3'

Sequencing Primer
(F):5'- AGTGCCCATCATTTTATGGTTG -3'
(R):5'- GCACAGACACCTATGTTATTGGC -3'
Posted On 2014-08-18