Incidental Mutation 'R1216:Or4c127'
ID 99622
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 039285-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R1216 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 89832752-89833666 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 89832822 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 24 (I24N)
Ref Sequence ENSEMBL: ENSMUSP00000121666 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061701] [ENSMUST00000111508] [ENSMUST00000131072] [ENSMUST00000213868]
AlphaFold Q8VGN2
Predicted Effect probably benign
Transcript: ENSMUST00000061701
AA Change: I24N

PolyPhen 2 Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000052387
Gene: ENSMUSG00000051313
AA Change: I24N

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: I24N

PolyPhen 2 Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000107133
Gene: ENSMUSG00000051313
AA Change: I24N

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
AA Change: I24N

PolyPhen 2 Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000121666
Gene: ENSMUSG00000051313
AA Change: I24N

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
AA Change: I24N

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.3%
Validation Efficiency 98% (45/46)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik A T 1: 11,868,716 (GRCm39) D332V probably damaging Het
Akr1c12 T C 13: 4,326,322 (GRCm39) Y53C probably benign Het
Arhgap23 T C 11: 97,383,498 (GRCm39) probably benign Het
AU040320 T C 4: 126,710,276 (GRCm39) probably benign Het
B4galnt2 A G 11: 95,782,767 (GRCm39) L15P probably benign Het
Cadps2 A G 6: 23,583,472 (GRCm39) probably benign Het
Cul9 C G 17: 46,833,101 (GRCm39) A1326P probably damaging Het
Dppa4 T C 16: 48,113,343 (GRCm39) F244S possibly damaging Het
Exoc1 A G 5: 76,702,035 (GRCm39) K445R probably benign Het
Fam47e A G 5: 92,710,343 (GRCm39) E114G probably damaging Het
Fgf12 A T 16: 27,981,202 (GRCm39) N171K possibly damaging Het
Fyb2 G A 4: 104,852,903 (GRCm39) V528M possibly damaging Het
Ghr A G 15: 3,349,337 (GRCm39) S614P probably damaging Het
Gm10985 A C 3: 53,752,674 (GRCm39) Y19S probably damaging Het
Gpr152 T A 19: 4,193,554 (GRCm39) V365D possibly damaging Het
Guca1a A G 17: 47,706,637 (GRCm39) probably benign Het
Hivep1 G A 13: 42,310,997 (GRCm39) G1079D probably benign Het
Hnrnpm T C 17: 33,868,687 (GRCm39) D580G probably damaging Het
Ints6 A T 14: 62,945,147 (GRCm39) D394E probably damaging Het
Kat6b T A 14: 21,672,108 (GRCm39) Y339* probably null Het
Kcnj11 C A 7: 45,749,285 (GRCm39) V13L probably benign Het
Lama3 C T 18: 12,554,191 (GRCm39) probably benign Het
Mtrex A G 13: 113,050,876 (GRCm39) probably benign Het
Myo18a A G 11: 77,709,473 (GRCm39) T161A probably benign Het
Ncapg G T 5: 45,857,261 (GRCm39) S991I possibly damaging Het
Nrde2 G A 12: 100,116,069 (GRCm39) probably benign Het
Or5d18 T C 2: 87,864,602 (GRCm39) R294G probably damaging Het
Pcdhb7 A T 18: 37,476,927 (GRCm39) T688S probably damaging Het
Pla2g6 T C 15: 79,190,635 (GRCm39) D309G probably benign Het
Plod1 A T 4: 148,005,584 (GRCm39) V404D probably damaging Het
Ppp2r2a G T 14: 67,266,447 (GRCm39) Y71* probably null Het
Prcp A G 7: 92,566,954 (GRCm39) N222S probably benign Het
Rad21 T C 15: 51,833,532 (GRCm39) T316A possibly damaging Het
Ranbp2 T C 10: 58,319,034 (GRCm39) probably benign Het
Rapgef4 C A 2: 72,038,492 (GRCm39) P548T possibly damaging Het
Ric1 G T 19: 29,555,135 (GRCm39) M416I probably benign Het
Slc9a8 T C 2: 167,266,041 (GRCm39) F6S probably benign Het
Smpdl3a T G 10: 57,678,575 (GRCm39) I126S probably null Het
Sphkap A T 1: 83,268,698 (GRCm39) L98Q probably damaging Het
Spink4 T G 4: 40,924,974 (GRCm39) probably benign Het
Taar5 A T 10: 23,847,605 (GRCm39) L334F probably damaging Het
Tecta A T 9: 42,289,203 (GRCm39) I454K probably benign Het
Ttc7 C T 17: 87,654,006 (GRCm39) T561M possibly damaging Het
Vmn2r9 G T 5: 108,995,440 (GRCm39) H403N probably damaging Het
Zdbf2 G A 1: 63,342,161 (GRCm39) C180Y possibly 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
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
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'- ACAGCAGTGCAGCTATGTTCACC -3'
(R):5'- GCTGAGTCATGCAGCCATTGAAGG -3'

Sequencing Primer
(F):5'- TATGTTCACCTCAGGGACCAG -3'
(R):5'- GCTCTTCTCAGAGATTAGGTCATAG -3'
Posted On 2014-01-15