Incidental Mutation 'R5751:Or4a2'
ID 445999
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 043201-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R5751 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 89247838-89248755 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 89248031 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 242 (I242N)
Ref Sequence ENSEMBL: ENSMUSP00000149898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099780] [ENSMUST00000216762] [ENSMUST00000217181]
AlphaFold Q8VGM8
Predicted Effect probably damaging
Transcript: ENSMUST00000099780
AA Change: I242N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097368
Gene: ENSMUSG00000075088
AA Change: I242N

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.5e-46 PFAM
Pfam:7tm_1 39 285 3.7e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216762
AA Change: I242N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000217181
AA Change: I242N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A G 5: 114,368,893 (GRCm39) T1704A possibly damaging Het
Adam6a T A 12: 113,508,447 (GRCm39) D273E possibly damaging Het
Adgrv1 T A 13: 81,670,355 (GRCm39) L1610F probably damaging Het
Ago2 C T 15: 73,000,172 (GRCm39) probably null Het
Apob T A 12: 8,062,619 (GRCm39) Y87* probably null Het
Aqp7 G A 4: 41,035,510 (GRCm39) T115I probably benign Het
Atp7b A G 8: 22,508,144 (GRCm39) V599A probably damaging Het
Dnah1 T A 14: 31,032,863 (GRCm39) I391F probably benign Het
Emc2 A G 15: 43,360,453 (GRCm39) probably null Het
Gbp9 G T 5: 105,229,124 (GRCm39) Q508K probably benign Het
Grpel1 C T 5: 36,626,811 (GRCm39) T31M probably benign Het
Gtf3c4 C T 2: 28,717,511 (GRCm39) A790T probably damaging Het
Hmcn1 A G 1: 150,449,305 (GRCm39) C115R probably damaging Het
Ik G A 18: 36,886,566 (GRCm39) R346H probably benign Het
Ldc1 A C 4: 130,114,234 (GRCm39) V61G probably benign Het
Lhx3 A G 2: 26,091,173 (GRCm39) S379P probably benign Het
Mocs1 A G 17: 49,756,766 (GRCm39) probably null Het
Mycbp2 C A 14: 103,385,986 (GRCm39) V3457F probably damaging Het
Or14j7 A T 17: 38,234,861 (GRCm39) I135L probably benign Het
Or5an6 G A 19: 12,371,780 (GRCm39) R51K probably benign Het
Orc5 C T 5: 22,704,969 (GRCm39) probably null Het
Phf20 T C 2: 156,109,261 (GRCm39) S203P probably benign Het
Pkd1l1 T C 11: 8,817,204 (GRCm39) S1815G possibly damaging Het
Pnpla7 T C 2: 24,871,790 (GRCm39) V11A probably damaging Het
Ranbp2 T C 10: 58,300,086 (GRCm39) probably null Het
Ranbp3l A G 15: 9,063,169 (GRCm39) D326G probably damaging Het
Rsph4a C T 10: 33,781,789 (GRCm39) A213V probably damaging Het
Sema3b A G 9: 107,476,913 (GRCm39) S570P probably benign Het
Spata31d1b T A 13: 59,866,787 (GRCm39) C1312S probably benign Het
Sphkap G T 1: 83,253,618 (GRCm39) T1377K probably benign Het
Stk32a A T 18: 43,438,085 (GRCm39) R195W possibly damaging Het
Tacr2 T C 10: 62,088,769 (GRCm39) I58T probably damaging Het
Tmem200c A T 17: 69,147,547 (GRCm39) K43N probably damaging Het
Tnik T C 3: 28,648,241 (GRCm39) M431T probably benign Het
Uckl1 A G 2: 181,216,245 (GRCm39) S167P possibly damaging Het
Vmn2r90 A G 17: 17,954,128 (GRCm39) Y764C probably damaging Het
Zan C T 5: 137,408,423 (GRCm39) 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
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
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'- GAGTGACTCCCTTTCTTAGTGC -3'
(R):5'- AATTGGCCTGCACAGACACC -3'

Sequencing Primer
(F):5'- AGTGCCCATCATTTTATGGTTG -3'
(R):5'- GCACAGACACCTATGTTATTGGC -3'
Posted On 2016-11-21