Incidental Mutation 'R4956:Or4c127'
ID 381563
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 042553-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R4956 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 89832752-89833666 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 89833187 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 146 (V146M)
Ref Sequence ENSEMBL: ENSMUSP00000107133 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061701] [ENSMUST00000111508] [ENSMUST00000131072] [ENSMUST00000213868]
AlphaFold Q8VGN2
Predicted Effect probably benign
Transcript: ENSMUST00000061701
AA Change: V146M

PolyPhen 2 Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000052387
Gene: ENSMUSG00000051313
AA Change: V146M

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 benign
Transcript: ENSMUST00000111508
AA Change: V146M

PolyPhen 2 Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000107133
Gene: ENSMUSG00000051313
AA Change: V146M

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.1%
Validation Efficiency 96% (70/73)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik G C 1: 120,096,840 (GRCm39) probably benign Het
3110009E18Rik C T 1: 120,096,850 (GRCm39) probably benign Het
3110009E18Rik G T 1: 120,096,849 (GRCm39) probably benign Het
4930562C15Rik A G 16: 4,672,816 (GRCm39) K866E probably damaging Het
Afap1l2 T C 19: 56,931,879 (GRCm39) M49V probably benign Het
Atf7ip C T 6: 136,583,808 (GRCm39) R1280C probably damaging Het
Atp2a2 A G 5: 122,599,643 (GRCm39) F583L probably benign Het
Atxn7l3b A G 10: 112,764,501 (GRCm39) C43R probably damaging Het
Axin2 T C 11: 108,833,904 (GRCm39) V617A probably damaging Het
Bltp3a T A 17: 28,108,958 (GRCm39) probably null Het
Brd1 A T 15: 88,614,316 (GRCm39) F193Y probably damaging Het
Cdc27 T C 11: 104,420,221 (GRCm39) S141G probably damaging Het
Chst9 A T 18: 15,851,045 (GRCm39) F7Y probably damaging Het
Cpn2 T A 16: 30,079,233 (GRCm39) Q156L possibly damaging Het
Dcaf6 A T 1: 165,216,354 (GRCm39) D416E probably benign Het
Dync1h1 C A 12: 110,624,560 (GRCm39) T3700N probably damaging Het
Eif2s3y A G Y: 1,023,407 (GRCm39) T430A possibly damaging Het
Enah G A 1: 181,745,854 (GRCm39) T401I probably damaging Het
Esp38 T G 17: 40,266,053 (GRCm39) I54R probably damaging Het
Ffar4 C T 19: 38,086,028 (GRCm39) R152W probably benign Het
Flvcr1 A G 1: 190,758,383 (GRCm39) probably benign Het
Fzd9 G A 5: 135,278,796 (GRCm39) A363V probably damaging Het
Gadl1 T A 9: 115,869,987 (GRCm39) I451N probably benign Het
Hmg20a A G 9: 56,388,948 (GRCm39) T172A probably damaging Het
Ints1 G A 5: 139,742,885 (GRCm39) T1695M probably damaging Het
Ipo13 G A 4: 117,758,768 (GRCm39) A699V probably benign Het
Ipo9 A G 1: 135,331,960 (GRCm39) probably null Het
Klra17 A G 6: 129,850,279 (GRCm39) L57P probably damaging Het
Map3k8 A C 18: 4,339,530 (GRCm39) D280E probably benign Het
Mycbp2 A G 14: 103,524,675 (GRCm39) F662L probably damaging Het
Ncor1 T A 11: 62,231,431 (GRCm39) H792L probably damaging Het
Nlrx1 T A 9: 44,173,909 (GRCm39) K431* probably null Het
Nos1 A G 5: 118,085,575 (GRCm39) N1301S probably benign Het
Obp2b A G 2: 25,627,087 (GRCm39) T7A probably damaging Het
Odc1 T C 12: 17,597,958 (GRCm39) I95T probably damaging Het
Or2t43 A G 11: 58,457,344 (GRCm39) Y276H probably damaging Het
Or5b97 C T 19: 12,878,963 (GRCm39) M60I probably damaging Het
Or6ae1 A G 7: 139,741,993 (GRCm39) I290T possibly damaging Het
Or6c1 A T 10: 129,517,968 (GRCm39) F213L probably benign Het
Pcif1 A T 2: 164,731,610 (GRCm39) Q521L probably damaging Het
Plekhg2 A C 7: 28,067,780 (GRCm39) L223R probably damaging Het
Plod3 A G 5: 137,018,772 (GRCm39) N270D probably damaging Het
Ppp1r37 A T 7: 19,266,636 (GRCm39) L417* probably null Het
Psmd6 C T 14: 14,116,166 (GRCm38) V141I probably benign Het
Rcn1 A T 2: 105,225,121 (GRCm39) Y111* probably null Het
Rell2 G A 18: 38,090,758 (GRCm39) R145H probably damaging Het
Scaper T C 9: 55,745,426 (GRCm39) K614R probably damaging Het
Scart2 A G 7: 139,878,275 (GRCm39) I1001V probably benign Het
Shbg C T 11: 69,508,045 (GRCm39) E107K probably damaging Het
Slc30a3 G A 5: 31,244,247 (GRCm39) P345L possibly damaging Het
Tchp A C 5: 114,857,681 (GRCm39) E391D probably damaging Het
Timeless A G 10: 128,077,520 (GRCm39) D200G probably damaging Het
Tspear A G 10: 77,700,601 (GRCm39) T144A possibly damaging Het
Usp5 C G 6: 124,799,593 (GRCm39) K318N possibly damaging Het
Vgll3 T C 16: 65,624,820 (GRCm39) V56A possibly damaging Het
Vmn2r71 C T 7: 85,268,436 (GRCm39) T213I probably benign Het
Wtap T C 17: 13,186,423 (GRCm39) T375A probably benign Het
Yipf2 T G 9: 21,503,204 (GRCm39) T88P probably damaging Het
Zfp382 T A 7: 29,830,979 (GRCm39) D89E probably benign Het
Zfp955b C T 17: 33,524,209 (GRCm39) probably benign Het
Zpr1 C T 9: 46,185,961 (GRCm39) T144I 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
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
R7674:Or4c127 UTSW 2 89,833,389 (GRCm39) missense probably damaging 0.99
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'- TTCAATGGCTGCATGACTCAG -3'
(R):5'- GATTCCTTAGGGAGCGAAGG -3'

Sequencing Primer
(F):5'- GCTGCATGACTCAGCTTTTTG -3'
(R):5'- TTCCTTAGGGAGCGAAGGATGAC -3'
Posted On 2016-04-27