Incidental Mutation 'R6119:Or4c103'
ID 485639
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 044429-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.160) question?
Stock # R6119 (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 G at 88513935 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 47 (I47T)
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 damaging
Transcript: ENSMUST00000099818
AA Change: I47T

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097406
Gene: ENSMUSG00000075121
AA Change: I47T

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 damaging
Transcript: ENSMUST00000213545
AA Change: I47T

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000213893
Predicted Effect probably benign
Transcript: ENSMUST00000216767
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217271
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.2%
Validation Efficiency 100% (53/53)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik C T 7: 27,265,138 (GRCm39) R97* probably null Het
4930544D05Rik G A 11: 70,507,317 (GRCm39) A121T probably damaging Het
Abtb2 A T 2: 103,532,655 (GRCm39) E484D probably benign Het
Ankk1 A T 9: 49,338,183 (GRCm39) W37R possibly damaging Het
Arhgap11a C A 2: 113,664,695 (GRCm39) M529I probably benign Het
Btd G A 14: 31,363,065 (GRCm39) probably benign Het
Ddx47 T C 6: 135,000,318 (GRCm39) I438T probably benign Het
Dnhd1 A G 7: 105,358,647 (GRCm39) T3379A probably benign Het
Dusp3 A G 11: 101,871,495 (GRCm39) probably benign Het
Dync1h1 A G 12: 110,594,440 (GRCm39) K1289E possibly damaging Het
Egf A T 3: 129,530,421 (GRCm39) I247N probably benign Het
Erich1 A G 8: 14,083,692 (GRCm39) L126P probably benign Het
Fat3 T A 9: 16,287,864 (GRCm39) H553L possibly damaging Het
Gdpgp1 T C 7: 79,888,740 (GRCm39) L257P probably damaging Het
Gimap8 T C 6: 48,635,888 (GRCm39) I551T possibly damaging Het
Gnptab C A 10: 88,267,257 (GRCm39) D449E probably damaging Het
Grb10 T C 11: 11,883,551 (GRCm39) D513G probably damaging Het
Grin1 T G 2: 25,195,170 (GRCm39) D283A probably damaging Het
Gtf2i A T 5: 134,315,911 (GRCm39) probably null Het
Ip6k3 A G 17: 27,367,599 (GRCm39) V199A possibly damaging Het
Kif17 T A 4: 138,015,643 (GRCm39) Y405* probably null Het
Lair1 T C 7: 4,031,895 (GRCm39) M71V probably benign Het
Mamdc2 G A 19: 23,330,679 (GRCm39) T376M probably damaging Het
Msra G A 14: 64,678,183 (GRCm39) R38C probably damaging Het
Mthfd1 A T 12: 76,350,447 (GRCm39) I462F probably damaging Het
Nbr1 A G 11: 101,457,938 (GRCm39) probably null Het
Neb A G 2: 52,110,943 (GRCm39) M181T probably benign Het
Noxo1 A G 17: 24,915,545 (GRCm39) probably benign Het
Optn C A 2: 5,026,134 (GRCm39) probably null Het
Or10ag58 A T 2: 87,265,733 (GRCm39) K301* probably null Het
Or5k17 A T 16: 58,746,895 (GRCm39) I13N possibly damaging Het
Or6c215 G A 10: 129,637,689 (GRCm39) A235V probably damaging Het
Or6c215 C A 10: 129,637,690 (GRCm39) A235S probably damaging Het
Pclo A G 5: 14,727,033 (GRCm39) probably benign Het
Ppp1r16b A G 2: 158,593,047 (GRCm39) I209V probably benign Het
Prss12 A G 3: 123,283,258 (GRCm39) I517V possibly damaging Het
Pwwp3a A G 10: 80,064,865 (GRCm39) K32E probably benign Het
Ripor2 C T 13: 24,798,627 (GRCm39) probably benign Het
Rmnd5b A G 11: 51,516,536 (GRCm39) S274P probably benign Het
Sftpa1 T A 14: 40,854,509 (GRCm39) I32N probably damaging Het
Slc2a12 T A 10: 22,541,246 (GRCm39) I367N probably damaging Het
Sorcs1 T C 19: 50,276,532 (GRCm39) D340G probably damaging Het
Synj1 T C 16: 90,735,877 (GRCm39) K1359E probably benign Het
Tasor2 C T 13: 3,631,891 (GRCm39) R870H possibly damaging Het
Tcf12 T A 9: 71,775,547 (GRCm39) E421V probably damaging Het
Tecta A T 9: 42,284,371 (GRCm39) F905I probably benign Het
Tmem106a T A 11: 101,474,576 (GRCm39) C58* probably null Het
Tmem131l A T 3: 83,805,689 (GRCm39) F1585I probably damaging Het
Tnks2 T C 19: 36,856,752 (GRCm39) S208P possibly damaging Het
Trim50 A G 5: 135,382,274 (GRCm39) N42S probably benign Het
Tsc22d2 T A 3: 58,367,674 (GRCm39) probably benign Het
Ttll3 T A 6: 113,371,702 (GRCm39) L23H probably damaging Het
Vmn1r10 A G 6: 57,091,218 (GRCm39) Y270C probably benign Het
Ypel3 T C 7: 126,377,537 (GRCm39) V74A possibly damaging Het
Zfp677 A G 17: 21,618,070 (GRCm39) T376A possibly 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
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
Predicted Primers PCR Primer
(F):5'- ATAGCGGTCAACAGCCATGAG -3'
(R):5'- CAGGTGACACATTTCATTTGGTTTCC -3'

Sequencing Primer
(F):5'- CCATGAGGATGAGGATAAAGATCTCC -3'
(R):5'- CTTCTCATTCATGAACCATGCAG -3'
Posted On 2017-08-16