Incidental Mutation 'R9080:Or9a4'
ID 689951
Institutional Source Beutler Lab
Gene Symbol Or9a4
Ensembl Gene ENSMUSG00000045514
Gene Name olfactory receptor family 9 subfamily A member 4
Synonyms MOR120-2, Olfr460, GA_x6K02T2P3E9-6947292-6946348
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # R9080 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 40546086-40549438 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 40548563 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 81 (L81H)
Ref Sequence ENSEMBL: ENSMUSP00000151187 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051540] [ENSMUST00000101491] [ENSMUST00000216942]
AlphaFold Q8VF31
Predicted Effect probably damaging
Transcript: ENSMUST00000051540
AA Change: L81H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054887
Gene: ENSMUSG00000045514
AA Change: L81H

DomainStartEndE-ValueType
Pfam:7tm_4 30 308 3e-44 PFAM
Pfam:7TM_GPCR_Srsx 34 296 3e-5 PFAM
Pfam:7tm_1 40 290 2.3e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101491
SMART Domains Protein: ENSMUSP00000099030
Gene: ENSMUSG00000029915

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
CLECT 48 161 3.83e-21 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000216942
AA Change: L81H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730596B20Rik T C 6: 52,155,973 (GRCm39) I13T unknown Het
Adad1 G T 3: 37,119,398 (GRCm39) V160L probably benign Het
Adamts6 T A 13: 104,449,427 (GRCm39) M279K probably damaging Het
Adgra2 T C 8: 27,604,529 (GRCm39) S535P probably benign Het
Akr1c13 C T 13: 4,241,172 (GRCm39) probably benign Het
Anapc1 A G 2: 128,464,426 (GRCm39) I1690T possibly damaging Het
Ccdc138 A G 10: 58,397,884 (GRCm39) M575V probably damaging Het
Cfap100 T C 6: 90,383,183 (GRCm39) N330S unknown Het
Col12a1 T C 9: 79,517,133 (GRCm39) D2849G probably benign Het
Cox11 G A 11: 90,535,246 (GRCm39) M232I probably damaging Het
Cpne7 C T 8: 123,856,951 (GRCm39) P402L probably damaging Het
Cspp1 G A 1: 10,183,919 (GRCm39) S848N probably benign Het
Cxcr5 A G 9: 44,424,563 (GRCm39) S365P probably damaging Het
Dclre1c A T 2: 3,458,589 (GRCm39) M389L probably benign Het
Dlc1 T C 8: 37,052,006 (GRCm39) D124G probably benign Het
Dtx3 A T 10: 127,027,137 (GRCm39) S346T possibly damaging Het
Exosc10 A G 4: 148,649,121 (GRCm39) D337G probably damaging Het
Fpr1 G A 17: 18,097,212 (GRCm39) A259V probably benign Het
Gm11232 A T 4: 71,676,070 (GRCm39) M25K probably benign Het
Gm4950 A G 18: 51,998,922 (GRCm39) V11A possibly damaging Het
Gsap C T 5: 21,399,410 (GRCm39) T37I possibly damaging Het
Igfbp2 T A 1: 72,891,157 (GRCm39) C252S probably damaging Het
Ing2 T C 8: 48,121,808 (GRCm39) T247A possibly damaging Het
Ints1 C T 5: 139,739,300 (GRCm39) V2028M probably benign Het
Itfg1 A G 8: 86,466,874 (GRCm39) F400L possibly damaging Het
Itga6 A G 2: 71,673,633 (GRCm39) Y889C probably benign Het
Kcnh3 A G 15: 99,139,667 (GRCm39) E882G probably damaging Het
Limch1 T A 5: 67,174,992 (GRCm39) C515S probably benign Het
Lrrc74a G T 12: 86,795,908 (GRCm39) V294F possibly damaging Het
Megf8 A G 7: 25,041,131 (GRCm39) E1120G probably damaging Het
Nbea A T 3: 55,912,516 (GRCm39) Y1090* probably null Het
Nckap1 A G 2: 80,350,726 (GRCm39) Y794H probably damaging Het
Nfib T C 4: 82,623,754 (GRCm39) M25V Het
Ogfod2 A G 5: 124,253,007 (GRCm39) E339G probably damaging Het
Olah T A 2: 3,349,389 (GRCm39) E64V probably damaging Het
Or2a14 T A 6: 43,130,830 (GRCm39) V197D possibly damaging Het
Pdcd6ip T A 9: 113,520,624 (GRCm39) K120M probably damaging Het
Pex1 A G 5: 3,655,476 (GRCm39) I134V probably damaging Het
Plekhm2 T C 4: 141,359,039 (GRCm39) H576R probably damaging Het
Ptpn13 T A 5: 103,637,494 (GRCm39) H127Q probably damaging Het
Rmnd5b C T 11: 51,515,055 (GRCm39) probably null Het
Rsf1 A AAGGCGACGG 7: 97,229,111 (GRCm39) probably null Het
Sec16b C A 1: 157,393,300 (GRCm39) Q995K probably benign Het
Serpinb6d T A 13: 33,855,107 (GRCm39) S260R probably benign Het
Slc47a1 C T 11: 61,264,219 (GRCm39) G67S possibly damaging Het
Slco6d1 T C 1: 98,348,983 (GRCm39) V18A probably benign Het
Tfcp2 GGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGA GGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGA 15: 100,395,968 (GRCm39) probably null Het
Tiam2 T G 17: 3,464,519 (GRCm39) C83G probably benign Het
Tlcd5 C T 9: 43,022,664 (GRCm39) R230Q probably benign Het
Tln2 C T 9: 67,253,843 (GRCm39) G743R probably damaging Het
Tnks CCCGCCGCCGCCGCCGCCGCCG CCCGCCGCCGCCGCCGCCG 8: 35,432,466 (GRCm39) probably benign Het
Ttn G A 2: 76,536,843 (GRCm39) T34994I probably benign Het
Ube2q2l T A 6: 136,377,720 (GRCm39) D370V probably damaging Het
Uggt2 T A 14: 119,295,017 (GRCm39) E536D probably benign Het
Usp54 T C 14: 20,612,308 (GRCm39) E836G probably damaging Het
Vmn1r41 C T 6: 89,724,138 (GRCm39) T63M unknown Het
Vmn2r72 A C 7: 85,387,464 (GRCm39) I700S probably damaging Het
Xrcc4 T C 13: 90,149,097 (GRCm39) N141S probably damaging Het
Zfp638 T C 6: 83,844,155 (GRCm39) V6A unknown Het
Other mutations in Or9a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00924:Or9a4 APN 6 40,548,388 (GRCm39) missense probably benign 0.01
IGL01599:Or9a4 APN 6 40,549,186 (GRCm39) missense probably damaging 0.99
IGL02168:Or9a4 APN 6 40,548,317 (GRCm39) utr 5 prime probably benign
PIT4280001:Or9a4 UTSW 6 40,548,650 (GRCm39) missense probably damaging 0.98
R0964:Or9a4 UTSW 6 40,549,139 (GRCm39) missense probably benign 0.06
R1446:Or9a4 UTSW 6 40,548,833 (GRCm39) missense probably benign 0.06
R2925:Or9a4 UTSW 6 40,548,342 (GRCm39) missense probably benign 0.00
R4295:Or9a4 UTSW 6 40,549,090 (GRCm39) missense probably damaging 1.00
R4382:Or9a4 UTSW 6 40,548,998 (GRCm39) missense probably damaging 1.00
R7432:Or9a4 UTSW 6 40,549,240 (GRCm39) missense probably benign 0.01
R7980:Or9a4 UTSW 6 40,549,154 (GRCm39) missense probably benign 0.00
R8338:Or9a4 UTSW 6 40,548,910 (GRCm39) missense probably benign 0.00
R8953:Or9a4 UTSW 6 40,548,676 (GRCm39) missense possibly damaging 0.89
R9417:Or9a4 UTSW 6 40,549,096 (GRCm39) missense
R9675:Or9a4 UTSW 6 40,548,559 (GRCm39) missense possibly damaging 0.79
Predicted Primers PCR Primer
(F):5'- GGGAATCACACTAGTGCCACTG -3'
(R):5'- GCGACTGTTCATGATGACACTG -3'

Sequencing Primer
(F):5'- GGCTCTGTAAACCTACGCC -3'
(R):5'- GATGACACTGTACCTCAAAGGGTTAC -3'
Posted On 2021-11-19