Incidental Mutation 'R6510:Or4c103'
ID 519879
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 044423-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.173) question?
Stock # R6510 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 88513148-88514074 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 88513302 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 258 (R258H)
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: R258H

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000097406
Gene: ENSMUSG00000075121
AA Change: R258H

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: R258H

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000213893
Predicted Effect probably benign
Transcript: ENSMUST00000216767
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217271
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.6%
Validation Efficiency
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 G A 19: 43,770,645 (GRCm39) probably null Het
Adgrv1 T C 13: 81,707,609 (GRCm39) T1266A possibly damaging Het
Arhgef17 T C 7: 100,527,743 (GRCm39) N1758S probably damaging Het
C130073F10Rik T A 4: 101,747,482 (GRCm39) E182D probably benign Het
Ears2 T C 7: 121,662,217 (GRCm39) D77G probably damaging Het
Ephb3 A G 16: 21,036,861 (GRCm39) D108G probably damaging Het
Foxp4 A G 17: 48,186,335 (GRCm39) F452S unknown Het
Gas2 T C 7: 51,593,460 (GRCm39) L180P probably damaging Het
Gm28168 T C 1: 117,875,685 (GRCm39) Y105H probably damaging Het
Ifi205 T A 1: 173,845,131 (GRCm39) D217V probably damaging Het
Igsf9 C G 1: 172,317,864 (GRCm39) Q74E possibly damaging Het
Itga2 A T 13: 115,009,816 (GRCm39) F380I probably damaging Het
Kremen2 A G 17: 23,962,629 (GRCm39) V128A possibly damaging Het
Mmp20 T A 9: 7,643,967 (GRCm39) N218K probably damaging Het
Msh3 T A 13: 92,489,772 (GRCm39) K73* probably null Het
Pate2 T A 9: 35,581,018 (GRCm39) C11S probably null Het
Prkag2 G T 5: 25,305,286 (GRCm39) probably benign Het
Serpini2 T C 3: 75,159,875 (GRCm39) D297G probably damaging Het
Sgca A T 11: 94,854,058 (GRCm39) L137Q probably benign Het
Treml4 A G 17: 48,581,472 (GRCm39) D249G probably benign Het
Vmn1r226 T C 17: 20,908,115 (GRCm39) C116R probably benign 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
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
R8671:Or4c103 UTSW 2 88,513,449 (GRCm39) missense probably benign 0.42
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'- CAAATAGTACCTTCCTAAGACAGTGG -3'
(R):5'- AGTGGAACCCTTTGTACAGTGAG -3'

Sequencing Primer
(F):5'- ATTTCCAAGTTCGAGGCCAG -3'
(R):5'- GGAACCCTTTGTACAGTGAGTTTCC -3'
Posted On 2018-06-06