Incidental Mutation 'R8671:Or4c103'
ID 661137
Institutional Source Beutler Lab
Gene Symbol Or4c103
Ensembl Gene ENSMUSG00000075121
Gene Name olfactory receptor family 4 subfamily C member 103
Synonyms GA_x6K02T2Q125-50163514-50162588, MOR230-12_p, Olfr1195, MOR230-4
MMRRC Submission 068526-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.160) question?
Stock # R8671 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 88513148-88514074 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 88513449 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 209 (F209Y)
Ref Sequence ENSEMBL: ENSMUSP00000149442 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081697] [ENSMUST00000099818] [ENSMUST00000213545] [ENSMUST00000213893] [ENSMUST00000216767]
AlphaFold Q8VG21
Predicted Effect probably benign
Transcript: ENSMUST00000081697
SMART Domains Protein: ENSMUSP00000080399
Gene: ENSMUSG00000060827

DomainStartEndE-ValueType
Pfam:7tm_4 36 310 7.5e-51 PFAM
Pfam:7tm_1 46 292 7.3e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099818
AA Change: F209Y

PolyPhen 2 Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000097406
Gene: ENSMUSG00000075121
AA Change: F209Y

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 2.5e-47 PFAM
Pfam:7TM_GPCR_Srsx 32 300 1.6e-5 PFAM
Pfam:7tm_1 39 285 5.2e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213545
AA Change: F209Y

PolyPhen 2 Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000213893
Predicted Effect probably benign
Transcript: ENSMUST00000216767
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (48/48)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310002L09Rik C T 4: 73,861,166 (GRCm39) E145K probably damaging Het
Ambp A T 4: 63,068,656 (GRCm39) Y120* probably null Het
Ankrd36 C T 11: 5,579,312 (GRCm39) A192V probably benign Het
Apol7e A T 15: 77,601,803 (GRCm39) M134L probably benign Het
Atg9b A T 5: 24,591,107 (GRCm39) N774K probably benign Het
Catsperb T A 12: 101,560,596 (GRCm39) N862K possibly damaging Het
Ccdc7a T A 8: 129,646,948 (GRCm39) D648V probably damaging Het
Cfap54 G T 10: 92,790,934 (GRCm39) P1855T unknown Het
Clcnkb T A 4: 141,139,541 (GRCm39) T154S probably damaging Het
Cux1 C T 5: 136,279,454 (GRCm39) R609H probably damaging Het
Eif2ak4 A G 2: 118,252,667 (GRCm39) D413G possibly damaging Het
Elp1 A G 4: 56,771,453 (GRCm39) L948P probably damaging Het
Flnc T C 6: 29,443,501 (GRCm39) probably null Het
Grm5 T C 7: 87,765,498 (GRCm39) probably null Het
Hectd3 T G 4: 116,853,778 (GRCm39) F225V possibly damaging Het
Hpcal4 G T 4: 123,082,976 (GRCm39) M107I probably benign Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Larp4 C A 15: 99,908,339 (GRCm39) Q607K probably benign Het
Marchf8 A G 6: 116,378,815 (GRCm39) R250G probably benign Het
Med13 A C 11: 86,161,923 (GRCm39) N2135K probably damaging Het
Msh5 T A 17: 35,264,909 (GRCm39) R89* probably null Het
Musk T G 4: 58,286,051 (GRCm39) probably benign Het
Myo18b T C 5: 113,022,609 (GRCm39) Q261R unknown Het
Npr1 A T 3: 90,363,464 (GRCm39) probably benign Het
Nynrin T A 14: 56,107,899 (GRCm39) V1002E possibly damaging Het
Or2l5 T C 16: 19,333,804 (GRCm39) Y194C possibly damaging Het
Or4f14c T A 2: 111,941,333 (GRCm39) K88M probably damaging Het
Or5w15 A T 2: 87,567,990 (GRCm39) L226Q probably damaging Het
Pcare G T 17: 72,058,372 (GRCm39) A435E probably benign Het
Pcdh9 T C 14: 94,126,086 (GRCm39) Y28C probably damaging Het
Pmpca G C 2: 26,285,046 (GRCm39) E424Q possibly damaging Het
Potefam1 T C 2: 111,059,877 (GRCm39) probably benign Het
Potefam3e T A 8: 19,784,775 (GRCm39) L203* probably null Het
Prkd1 T A 12: 50,435,191 (GRCm39) N512I probably benign Het
Pwwp2b C T 7: 138,836,326 (GRCm39) P589L probably damaging Het
Rasgrp4 G A 7: 28,842,452 (GRCm39) G242D probably damaging Het
Rcbtb1 T G 14: 59,467,973 (GRCm39) V480G probably damaging Het
Rptn A G 3: 93,305,501 (GRCm39) S945G probably benign Het
Slc22a2 C T 17: 12,824,863 (GRCm39) Q242* probably null Het
Slfn3 T A 11: 83,103,825 (GRCm39) V232E probably benign Het
Stab1 T A 14: 30,879,365 (GRCm39) K705M probably damaging Het
Syn2 C A 6: 115,255,128 (GRCm39) S480* probably null Het
Thsd4 A T 9: 60,301,728 (GRCm39) L189H probably damaging Het
Tinagl1 T C 4: 130,061,597 (GRCm39) T250A probably benign Het
Tnc A T 4: 63,935,683 (GRCm39) C418S probably damaging Het
Ube2q1 A G 3: 89,683,385 (GRCm39) E110G probably damaging Het
Wdfy4 G T 14: 32,693,722 (GRCm39) probably benign Het
Xcl1 T C 1: 164,759,419 (GRCm39) M94V probably benign Het
Zfp369 T C 13: 65,444,095 (GRCm39) S413P possibly damaging Het
Zfp454 A C 11: 50,764,595 (GRCm39) I279S possibly damaging Het
Zfp971 A C 2: 177,675,730 (GRCm39) Q443P probably damaging Het
Other mutations in Or4c103
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00907:Or4c103 APN 2 88,513,638 (GRCm39) missense probably benign
IGL01396:Or4c103 APN 2 88,513,575 (GRCm39) missense probably damaging 0.99
IGL02871:Or4c103 APN 2 88,513,428 (GRCm39) missense probably damaging 1.00
IGL03049:Or4c103 APN 2 88,513,834 (GRCm39) missense possibly damaging 0.49
R0408:Or4c103 UTSW 2 88,513,999 (GRCm39) missense probably benign 0.04
R1562:Or4c103 UTSW 2 88,513,423 (GRCm39) missense probably benign 0.01
R5308:Or4c103 UTSW 2 88,513,749 (GRCm39) missense probably benign 0.09
R5806:Or4c103 UTSW 2 88,513,495 (GRCm39) missense probably damaging 1.00
R6119:Or4c103 UTSW 2 88,513,935 (GRCm39) missense probably damaging 0.98
R6178:Or4c103 UTSW 2 88,513,977 (GRCm39) missense probably damaging 1.00
R6510:Or4c103 UTSW 2 88,513,302 (GRCm39) missense probably benign 0.07
R6919:Or4c103 UTSW 2 88,514,028 (GRCm39) missense possibly damaging 0.93
R7205:Or4c103 UTSW 2 88,513,767 (GRCm39) missense possibly damaging 0.78
R7253:Or4c103 UTSW 2 88,513,969 (GRCm39) missense possibly damaging 0.87
R7663:Or4c103 UTSW 2 88,513,696 (GRCm39) missense probably damaging 1.00
R8011:Or4c103 UTSW 2 88,513,537 (GRCm39) nonsense probably null
R8674:Or4c103 UTSW 2 88,513,774 (GRCm39) missense probably benign
R8845:Or4c103 UTSW 2 88,513,735 (GRCm39) missense possibly damaging 0.64
R9184:Or4c103 UTSW 2 88,513,519 (GRCm39) missense possibly damaging 0.75
Predicted Primers PCR Primer
(F):5'- AGATATCATCTTGTCCATAGGGAAGG -3'
(R):5'- ATGAATCGCCAGGTCTGTGG -3'

Sequencing Primer
(F):5'- TCCATAGGGAAGGTGGTGGC -3'
(R):5'- GTGGGATCCTGTATACATTCATCAG -3'
Posted On 2021-03-08