Incidental Mutation 'R9250:Or10ab4'
ID 701488
Institutional Source Beutler Lab
Gene Symbol Or10ab4
Ensembl Gene ENSMUSG00000043855
Gene Name olfactory receptor family 10 subfamily AB member 4
Synonyms Olfr479, MOR267-15, GA_x6K02T2PBJ9-10384085-10385068
MMRRC Submission 068989-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R9250 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 107654191-107655174 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 107655014 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 275 (T275M)
Ref Sequence ENSEMBL: ENSMUSP00000147905 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063151] [ENSMUST00000209805] [ENSMUST00000214599]
AlphaFold Q7TRV1
Predicted Effect probably damaging
Transcript: ENSMUST00000063151
AA Change: T275M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000056631
Gene: ENSMUSG00000043855
AA Change: T275M

DomainStartEndE-ValueType
Pfam:7tm_4 28 306 7.5e-45 PFAM
Pfam:7tm_1 39 301 1.9e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000209805
AA Change: T275M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000214599
AA Change: T275M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.0%
Validation Efficiency 98% (55/56)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C G 3: 137,772,389 (GRCm39) A526G probably damaging Het
AAdacl4fm3 A T 4: 144,442,011 (GRCm39) I80K probably benign Het
Ablim3 A G 18: 61,944,501 (GRCm39) L526P probably damaging Het
Aknad1 T C 3: 108,664,143 (GRCm39) S369P probably damaging Het
Aldh8a1 T C 10: 21,258,259 (GRCm39) S119P probably damaging Het
Brpf3 T C 17: 29,054,788 (GRCm39) I1110T probably damaging Het
Cdk12 T C 11: 98,101,398 (GRCm39) S419P probably benign Het
Cmklr1 G C 5: 113,752,043 (GRCm39) H319Q probably benign Het
Crim1 C T 17: 78,677,471 (GRCm39) H891Y probably benign Het
Dapp1 T C 3: 137,638,919 (GRCm39) E269G probably benign Het
Ddt T C 10: 75,609,063 (GRCm39) D32G probably benign Het
Dlg5 T C 14: 24,240,543 (GRCm39) D236G probably benign Het
Edem1 C A 6: 108,805,850 (GRCm39) D50E probably benign Het
Exoc5 A T 14: 49,256,915 (GRCm39) N490K probably damaging Het
Fam117a C A 11: 95,228,071 (GRCm39) D60E possibly damaging Het
Fam186a A G 15: 99,845,330 (GRCm39) S305P unknown Het
Fbxw21 A G 9: 108,972,846 (GRCm39) F363L probably benign Het
Fhl2 A G 1: 43,167,422 (GRCm39) C224R probably damaging Het
Gad1 T A 2: 70,409,543 (GRCm39) N211K probably damaging Het
Igdcc4 A G 9: 65,038,932 (GRCm39) T906A possibly damaging Het
Igkv3-5 T C 6: 70,640,758 (GRCm39) S80P probably benign Het
Igkv4-90 C A 6: 68,784,331 (GRCm39) G62* probably null Het
Il31ra A T 13: 112,669,508 (GRCm39) Y386N probably damaging Het
Kif13a G T 13: 46,928,909 (GRCm39) H1159N probably damaging Het
Kmt2a G A 9: 44,759,683 (GRCm39) S722F possibly damaging Het
Mipep T C 14: 61,028,358 (GRCm39) Y157H probably damaging Het
Mipol1 A G 12: 57,461,169 (GRCm39) E293G probably damaging Het
Mmp7 A T 9: 7,697,885 (GRCm39) probably benign Het
Mr1 A G 1: 155,013,325 (GRCm39) L84P probably damaging Het
Neb A G 2: 52,168,913 (GRCm39) V1874A possibly damaging Het
Nefm T C 14: 68,358,570 (GRCm39) probably benign Het
Nek1 T C 8: 61,465,151 (GRCm39) M80T probably damaging Het
Nubp2 A G 17: 25,103,373 (GRCm39) probably null Het
Or5w11 T C 2: 87,459,278 (GRCm39) I41T probably benign Het
Or8b101 T A 9: 38,020,718 (GRCm39) C240* probably null Het
Ovch2 C A 7: 107,392,542 (GRCm39) R267L probably damaging Het
Pole A G 5: 110,447,687 (GRCm39) E741G possibly damaging Het
Ptprh T A 7: 4,576,289 (GRCm39) T324S probably benign Het
Pxk T A 14: 8,144,123 (GRCm38) H290Q probably damaging Het
Rab11fip3 G T 17: 26,237,219 (GRCm39) T5N unknown Het
Rp9 G A 9: 22,365,086 (GRCm39) Q124* probably null Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,121 (GRCm39) probably benign Het
Runx2 A G 17: 45,125,459 (GRCm39) L19P probably benign Het
Sf1 C T 19: 6,424,764 (GRCm39) P473L unknown Het
Slc9a2 C T 1: 40,806,987 (GRCm39) T758I probably benign Het
Spef1l C A 7: 139,556,395 (GRCm39) K197N probably benign Het
Tas2r105 T G 6: 131,663,951 (GRCm39) H159P probably benign Het
Tas2r120 T A 6: 132,633,954 (GRCm39) M12K probably benign Het
Thoc2l A G 5: 104,667,320 (GRCm39) Y614C probably benign Het
Trpv4 T C 5: 114,764,941 (GRCm39) Y691C probably damaging Het
Unc93a A G 17: 13,334,488 (GRCm39) V337A probably benign Het
Usp17le T G 7: 104,418,839 (GRCm39) Q101P probably damaging Het
Usp3 A T 9: 66,449,793 (GRCm39) probably null Het
Zfp445 T C 9: 122,681,092 (GRCm39) S950G possibly damaging Het
Zfp644 T G 5: 106,784,699 (GRCm39) D616A probably damaging Het
Zfp759 T G 13: 67,288,461 (GRCm39) C671G probably damaging Het
Zgrf1 G T 3: 127,379,797 (GRCm39) C1111F probably damaging Het
Zmym2 T A 14: 57,148,732 (GRCm39) S349T probably damaging Het
Other mutations in Or10ab4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01120:Or10ab4 APN 7 107,654,774 (GRCm39) missense probably damaging 0.96
IGL01320:Or10ab4 APN 7 107,654,188 (GRCm39) utr 5 prime probably benign
IGL01322:Or10ab4 APN 7 107,654,188 (GRCm39) utr 5 prime probably benign
R0396:Or10ab4 UTSW 7 107,655,170 (GRCm39) missense probably benign 0.11
R0539:Or10ab4 UTSW 7 107,655,029 (GRCm39) missense probably damaging 1.00
R2129:Or10ab4 UTSW 7 107,655,111 (GRCm39) missense probably benign 0.25
R2246:Or10ab4 UTSW 7 107,654,989 (GRCm39) missense probably benign 0.00
R2247:Or10ab4 UTSW 7 107,654,989 (GRCm39) missense probably benign 0.00
R3149:Or10ab4 UTSW 7 107,654,989 (GRCm39) missense probably benign 0.00
R3709:Or10ab4 UTSW 7 107,655,004 (GRCm39) missense possibly damaging 0.63
R3714:Or10ab4 UTSW 7 107,654,642 (GRCm39) missense probably damaging 0.99
R4326:Or10ab4 UTSW 7 107,654,362 (GRCm39) missense probably damaging 1.00
R4962:Or10ab4 UTSW 7 107,654,647 (GRCm39) missense probably benign 0.27
R5053:Or10ab4 UTSW 7 107,654,741 (GRCm39) missense probably benign 0.10
R5976:Or10ab4 UTSW 7 107,655,005 (GRCm39) missense possibly damaging 0.89
R6151:Or10ab4 UTSW 7 107,655,106 (GRCm39) missense probably benign
R6939:Or10ab4 UTSW 7 107,654,312 (GRCm39) missense possibly damaging 0.87
R7271:Or10ab4 UTSW 7 107,654,423 (GRCm39) missense probably damaging 1.00
R8956:Or10ab4 UTSW 7 107,655,160 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- TGCCTGTGATTACACTGCTC -3'
(R):5'- CACTATTGTTGTCAGTGCTCAATAG -3'

Sequencing Primer
(F):5'- GTGATTACACTGCTCATCATGC -3'
(R):5'- TTGTCAGTGCTCAATAGTTGTTC -3'
Posted On 2022-03-25