Incidental Mutation 'R4111:Or4a2'
ID 317291
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R4111 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 89247838-89248755 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 89248444 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 104 (L104F)
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: L104F

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000097368
Gene: ENSMUSG00000075088
AA Change: L104F

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: L104F

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect probably benign
Transcript: ENSMUST00000217181
AA Change: L104F

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
Acot10 A T 15: 20,666,612 (GRCm39) L43Q probably damaging Het
Alms1 G A 6: 85,597,870 (GRCm39) V1368I probably benign Het
Ambra1 T C 2: 91,730,903 (GRCm39) S894P probably damaging Het
Arhgef12 C A 9: 42,883,570 (GRCm39) G1320C probably damaging Het
Atg7 G C 6: 114,690,255 (GRCm39) G596R probably damaging Het
Birc6 T C 17: 74,873,010 (GRCm39) V423A probably damaging Het
Bltp3a T A 17: 28,105,064 (GRCm39) L586* probably null Het
Cdh17 T C 4: 11,814,628 (GRCm39) S728P probably damaging Het
Ctu2 G A 8: 123,203,256 (GRCm39) R24Q possibly damaging Het
Dclk3 T C 9: 111,298,148 (GRCm39) I564T probably damaging Het
Ddx39b T A 17: 35,462,340 (GRCm39) I42N possibly damaging Het
Defa39 T C 8: 22,192,679 (GRCm39) T106A possibly damaging Het
Dip2c G T 13: 9,687,137 (GRCm39) G1254C probably damaging Het
Dzip1 T A 14: 119,114,645 (GRCm39) K837* probably null Het
Epha1 G A 6: 42,335,772 (GRCm39) T955M possibly damaging Het
Etfbkmt T C 6: 149,046,089 (GRCm39) probably benign Het
Etfrf1 T C 6: 145,161,098 (GRCm39) Y23H probably damaging Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Gm5611 T A 9: 16,941,989 (GRCm39) noncoding transcript Het
Gpr37l1 T C 1: 135,095,008 (GRCm39) T79A possibly damaging Het
Hrh3 C A 2: 179,744,643 (GRCm39) R99L possibly damaging Het
Hyls1 T A 9: 35,472,714 (GRCm39) Y234F probably damaging Het
Ifnar1 C A 16: 91,293,046 (GRCm39) P230T probably damaging Het
Impact T C 18: 13,109,090 (GRCm39) probably null Het
Kcna6 G C 6: 126,716,737 (GRCm39) R51G probably damaging Het
Lrpprc G A 17: 85,033,766 (GRCm39) T1037M probably benign Het
Or10g9 C A 9: 39,912,194 (GRCm39) E110* probably null Het
Or5an6 T C 19: 12,371,665 (GRCm39) F13L probably damaging Het
Or6n2 T A 1: 173,896,999 (GRCm39) I45N probably damaging Het
Pask A G 1: 93,238,540 (GRCm39) V1315A probably damaging Het
Pramel16 T A 4: 143,676,475 (GRCm39) I210F possibly damaging Het
Prl7a2 A T 13: 27,849,050 (GRCm39) Y80N possibly damaging Het
Rhox3f G T X: 36,763,672 (GRCm39) E140* probably null Het
Rtn2 T C 7: 19,020,769 (GRCm39) S81P probably damaging Het
Sbf2 G A 7: 110,027,449 (GRCm39) P470S probably damaging Het
Sec31b G T 19: 44,512,968 (GRCm39) T507N possibly damaging Het
Sox30 A G 11: 45,908,041 (GRCm39) Y736C probably benign Het
Srsf3-ps A T 11: 98,516,223 (GRCm39) V50D probably damaging Het
Synj2 G A 17: 6,058,240 (GRCm39) G243S probably benign Het
Tbr1 C T 2: 61,642,076 (GRCm39) P184L probably benign Het
Tns1 T C 1: 73,981,091 (GRCm39) N1091S probably damaging Het
Trappc10 A G 10: 78,032,264 (GRCm39) F1008S probably benign Het
Ube4a T A 9: 44,860,247 (GRCm39) I272F probably damaging Het
Vmn1r122 A T 7: 20,867,438 (GRCm39) S206T probably damaging Het
Vmn2r1 A C 3: 63,997,176 (GRCm39) K277N probably benign Het
Vps13a T C 19: 16,617,992 (GRCm39) E2931G probably damaging Het
Wdr70 G T 15: 8,006,472 (GRCm39) Q360K probably benign Het
Wdr90 G T 17: 26,068,342 (GRCm39) Q1329K possibly damaging Het
Wrn T C 8: 33,842,183 (GRCm39) N37S probably benign Het
Yap1 A T 9: 7,938,432 (GRCm39) *358K probably null Het
Zfp964 T A 8: 70,116,754 (GRCm39) S450R probably benign Het
Zkscan2 T C 7: 123,081,907 (GRCm39) probably benign Het
Zmynd10 A T 9: 107,426,251 (GRCm39) K133* probably null 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
R0667:Or4a2 UTSW 2 89,248,032 (GRCm39) missense probably benign 0.05
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
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'- TGCAGGCCAATTTTAATAAGGG -3'
(R):5'- TGGTCAGCCCAAGTTTAGATGC -3'

Sequencing Primer
(F):5'- CATGTCACAGATGAAGTGATCAATG -3'
(R):5'- AAGTTTAGATGCCCCCATGTAC -3'
Posted On 2015-05-15