Incidental Mutation 'IGL00907:Or4c103'
ID 26845
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.160) question?
Stock # IGL00907
Quality Score
Status
Chromosome 2
Chromosomal Location 88513148-88514074 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88513638 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 146 (V146A)
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: V146A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097406
Gene: ENSMUSG00000075121
AA Change: V146A

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: V146A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000213893
Predicted Effect probably benign
Transcript: ENSMUST00000216767
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217271
Coding Region Coverage
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Armt1 A G 10: 4,454,051 (GRCm38) F379V possibly damaging Het
Atp8b1 T C 18: 64,694,776 (GRCm39) D502G possibly damaging Het
Brwd3 A G X: 107,827,852 (GRCm39) probably benign Het
Ccdc171 T A 4: 83,782,486 (GRCm39) H1259Q probably damaging Het
Chd7 T C 4: 8,840,435 (GRCm39) I1401T probably damaging Het
Csf1 T C 3: 107,657,662 (GRCm39) N76S probably damaging Het
Dld A G 12: 31,382,329 (GRCm39) probably benign Het
Eif5 T A 12: 111,506,989 (GRCm39) I141N probably damaging Het
Etl4 G A 2: 20,771,289 (GRCm39) G674D possibly damaging Het
Fam234a G A 17: 26,432,500 (GRCm39) R550W probably damaging Het
Hipk2 A G 6: 38,795,208 (GRCm39) S347P probably damaging Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Hsd17b2 A T 8: 118,461,433 (GRCm39) I157L probably benign Het
Ibtk A G 9: 85,572,384 (GRCm39) S1269P possibly damaging Het
Igsf3 T C 3: 101,334,764 (GRCm39) probably benign Het
Kin G A 2: 10,085,515 (GRCm39) R25H probably damaging Het
Kin T C 2: 10,085,517 (GRCm39) W26R probably damaging Het
Kir3dl1 G A X: 135,425,911 (GRCm39) C95Y probably damaging Het
Lamc2 A G 1: 153,020,397 (GRCm39) V383A probably benign Het
Mael A G 1: 166,032,418 (GRCm39) Y314H probably damaging Het
Npat T C 9: 53,474,590 (GRCm39) V794A possibly damaging Het
Nr4a2 T A 2: 56,999,229 (GRCm39) I340F probably damaging Het
Or5p56 A T 7: 107,590,097 (GRCm39) D175V probably damaging Het
Or7g21 T A 9: 19,032,528 (GRCm39) D89E possibly damaging Het
Pdcd11 T C 19: 47,096,003 (GRCm39) V641A probably benign Het
Phf24 C T 4: 42,938,667 (GRCm39) T264I probably benign Het
Sars2 G T 7: 28,452,848 (GRCm39) probably benign Het
Scn1a A C 2: 66,158,141 (GRCm39) S411A probably damaging Het
Srsf5 T C 12: 80,994,608 (GRCm39) V112A probably damaging Het
Susd2 T C 10: 75,476,765 (GRCm39) N206S probably benign Het
Thrap3 C T 4: 126,059,371 (GRCm39) G892S probably benign Het
Ttc32 T A 12: 9,084,953 (GRCm39) Y58N probably damaging Het
Other mutations in Or4c103
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-04-17