Incidental Mutation 'R7674:Or4c127'
ID 592355
Institutional Source Beutler Lab
Gene Symbol Or4c127
Ensembl Gene ENSMUSG00000051313
Gene Name olfactory receptor family 4 subfamily C member 127
Synonyms GA_x6K02T2Q125-51434523-51435437, Olfr1262, MOR234-1
MMRRC Submission 045744-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R7674 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 89832752-89833666 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 89833389 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 213 (Y213F)
Ref Sequence ENSEMBL: ENSMUSP00000107133 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061701] [ENSMUST00000111508] [ENSMUST00000131072] [ENSMUST00000213868]
AlphaFold Q8VGN2
Predicted Effect probably damaging
Transcript: ENSMUST00000061701
AA Change: Y213F

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000052387
Gene: ENSMUSG00000051313
AA Change: Y213F

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 30 297 1.2e-5 PFAM
Pfam:7tm_1 36 282 9.9e-24 PFAM
Pfam:7tm_4 134 275 1.3e-38 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111508
AA Change: Y213F

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107133
Gene: ENSMUSG00000051313
AA Change: Y213F

DomainStartEndE-ValueType
Pfam:7tm_4 25 300 6.1e-43 PFAM
Pfam:7TM_GPCR_Srsx 30 297 1.2e-5 PFAM
Pfam:7tm_1 36 282 7.1e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131072
SMART Domains Protein: ENSMUSP00000121666
Gene: ENSMUSG00000051313

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 30 171 1.7e-8 PFAM
Pfam:7tm_1 36 238 3.2e-22 PFAM
Pfam:7tm_4 134 240 5e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213868
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (58/58)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T A 11: 110,110,123 (GRCm39) I607F probably damaging Het
Abcc4 A T 14: 118,848,899 (GRCm39) D559E probably damaging Het
Abl1 T C 2: 31,579,841 (GRCm39) V8A possibly damaging Het
Alkal1 A T 1: 6,459,712 (GRCm39) Y96F probably damaging Het
Asb3 T A 11: 31,031,435 (GRCm39) C352S possibly damaging Het
B4galnt3 G T 6: 120,192,166 (GRCm39) D523E probably benign Het
Cadps C A 14: 12,411,581 (GRCm38) E1258D probably damaging Het
Carmil2 A T 8: 106,423,918 (GRCm39) Q1257L possibly damaging Het
Cars1 A G 7: 143,140,840 (GRCm39) probably null Het
Ccdc88c G T 12: 100,911,491 (GRCm39) A781E probably benign Het
Ccr10 A T 11: 101,065,475 (GRCm39) D18E probably benign Het
Cdcp1 C A 9: 123,045,071 (GRCm39) probably benign Het
Ces5a C A 8: 94,240,897 (GRCm39) R400L probably damaging Het
Clcn6 C T 4: 148,097,151 (GRCm39) V636M probably damaging Het
Cluh T A 11: 74,558,546 (GRCm39) L1206H probably damaging Het
Cog2 C A 8: 125,264,621 (GRCm39) N333K probably damaging Het
Dnah14 A T 1: 181,535,098 (GRCm39) I2355L probably benign Het
Dok4 T C 8: 95,593,190 (GRCm39) Y165C probably damaging Het
Dpy19l3 A C 7: 35,394,734 (GRCm39) D601E probably damaging Het
Egr3 G A 14: 70,315,526 (GRCm39) probably null Het
Elapor1 T G 3: 108,370,307 (GRCm39) R698S probably damaging Het
Elp1 T C 4: 56,792,075 (GRCm39) Q231R probably damaging Het
Evpl T C 11: 116,113,394 (GRCm39) K1432R probably benign Het
Fbxw8 A T 5: 118,263,036 (GRCm39) C214* probably null Het
Gm45861 A C 8: 28,030,147 (GRCm39) Y821S unknown Het
Gm5519 G C 19: 33,802,428 (GRCm39) G157A probably benign Het
Gys1 T C 7: 45,104,495 (GRCm39) S641P probably damaging Het
Ighv6-6 T A 12: 114,398,837 (GRCm39) I10L probably benign Het
Jmy C T 13: 93,579,107 (GRCm39) R675Q probably damaging Het
Kif14 C T 1: 136,396,558 (GRCm39) T288I probably damaging Het
Kpna3 A T 14: 61,605,086 (GRCm39) N520K probably benign Het
Lonp2 A T 8: 87,392,386 (GRCm39) Q484L probably benign Het
Lrp1b T A 2: 42,542,921 (GRCm39) probably benign Het
Mpeg1 A T 19: 12,438,751 (GRCm39) M70L probably benign Het
Msh3 C A 13: 92,349,011 (GRCm39) V1074L probably benign Het
Muc6 A T 7: 141,224,247 (GRCm39) L1645Q unknown Het
Nipbl C T 15: 8,322,585 (GRCm39) V2609I probably benign Het
Nucks1 C A 1: 131,858,844 (GRCm39) T202N probably benign Het
Or10al3 A G 17: 38,011,573 (GRCm39) N4S probably benign Het
Or4e2 A G 14: 52,687,899 (GRCm39) T10A probably benign Het
Or5m12 A C 2: 85,734,880 (GRCm39) F173V probably damaging Het
Or8b12i A G 9: 20,082,549 (GRCm39) L106P possibly damaging Het
Plekha2 A G 8: 25,547,314 (GRCm39) S257P probably damaging Het
Pnlip G C 19: 58,663,586 (GRCm39) G187A possibly damaging Het
Pramel22 T A 4: 143,382,175 (GRCm39) K174* probably null Het
Rasgrf2 C T 13: 92,267,914 (GRCm39) S30N possibly damaging Het
Rho G T 6: 115,909,294 (GRCm39) C110F probably damaging Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Slc2a12 A G 10: 22,569,893 (GRCm39) D528G probably damaging Het
Sorcs2 G A 5: 36,555,296 (GRCm39) R32C probably damaging Het
Sp110 G A 1: 85,506,813 (GRCm39) R417C probably benign Het
Srp72 A T 5: 77,122,673 (GRCm39) N35Y probably damaging Het
Tm2d2 C A 8: 25,508,280 (GRCm39) Y141* probably null Het
Tor3a G A 1: 156,483,478 (GRCm39) H315Y possibly damaging Het
Usp17la A T 7: 104,510,654 (GRCm39) K420* probably null Het
Vmn2r26 T C 6: 124,016,321 (GRCm39) W262R probably benign Het
Yipf7 A T 5: 69,676,572 (GRCm39) V189D probably damaging Het
Zan T A 5: 137,465,370 (GRCm39) M462L possibly damaging Het
Zc3h18 AGG AG 8: 123,110,295 (GRCm39) probably null Het
Zfp930 A T 8: 69,681,337 (GRCm39) H344L probably damaging Het
Other mutations in Or4c127
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Or4c127 APN 2 89,833,365 (GRCm39) missense possibly damaging 0.65
IGL03303:Or4c127 APN 2 89,832,810 (GRCm39) missense possibly damaging 0.88
R1216:Or4c127 UTSW 2 89,832,822 (GRCm39) missense probably benign 0.23
R1256:Or4c127 UTSW 2 89,832,911 (GRCm39) missense possibly damaging 0.61
R1860:Or4c127 UTSW 2 89,833,490 (GRCm39) missense probably benign 0.26
R1864:Or4c127 UTSW 2 89,832,825 (GRCm39) missense probably benign 0.02
R1918:Or4c127 UTSW 2 89,832,918 (GRCm39) missense probably benign 0.12
R2192:Or4c127 UTSW 2 89,832,774 (GRCm39) missense probably damaging 0.99
R3024:Or4c127 UTSW 2 89,833,584 (GRCm39) missense probably damaging 1.00
R4155:Or4c127 UTSW 2 89,833,004 (GRCm39) missense probably benign 0.35
R4956:Or4c127 UTSW 2 89,833,187 (GRCm39) missense probably benign 0.33
R5298:Or4c127 UTSW 2 89,832,804 (GRCm39) missense possibly damaging 0.92
R5804:Or4c127 UTSW 2 89,833,332 (GRCm39) missense possibly damaging 0.91
R6766:Or4c127 UTSW 2 89,832,876 (GRCm39) missense probably benign 0.06
R8535:Or4c127 UTSW 2 89,833,511 (GRCm39) missense probably benign 0.19
Z1176:Or4c127 UTSW 2 89,833,392 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TGGTAGCAGCTGGAATCGTG -3'
(R):5'- TTCAACAGAGGAGTCACTAGGG -3'

Sequencing Primer
(F):5'- GGTTTGTTCATGGAATGATACAGAC -3'
(R):5'- CAGAGGAGTCACTAGGGTGTAAAAC -3'
Posted On 2019-11-12