Incidental Mutation 'IGL01329:Or4k15c'
ID 74417
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4k15c
Ensembl Gene ENSMUSG00000060523
Gene Name olfactory receptor family 4 subfamily K member 15C
Synonyms MOR246-4, GA_x6K02T2PMLR-5775299-5774334, Olfr726
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # IGL01329
Quality Score
Status
Chromosome 14
Chromosomal Location 50321171-50322136 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 50321454 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 228 (R228H)
Ref Sequence ENSEMBL: ENSMUSP00000149373 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072370] [ENSMUST00000206834] [ENSMUST00000213345] [ENSMUST00000215105] [ENSMUST00000215278] [ENSMUST00000217319] [ENSMUST00000217025] [ENSMUST00000217422]
AlphaFold E9Q8X3
Predicted Effect probably benign
Transcript: ENSMUST00000072370
AA Change: R228H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000072207
Gene: ENSMUSG00000060523
AA Change: R228H

DomainStartEndE-ValueType
Pfam:7tm_4 31 304 1.3e-47 PFAM
Pfam:7TM_GPCR_Srsx 36 288 5.4e-8 PFAM
Pfam:7tm_1 41 287 7.5e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205951
AA Change: R228H
Predicted Effect probably benign
Transcript: ENSMUST00000206834
AA Change: R228H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000213345
AA Change: R228H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000215105
AA Change: R228H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000215278
AA Change: R228H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000217319
AA Change: R228H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000217025
AA Change: R228H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000217422
AA Change: R228H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T C 5: 8,944,166 (GRCm39) probably null Het
Ankib1 A T 5: 3,784,194 (GRCm39) probably benign Het
Birc2 T C 9: 7,860,733 (GRCm39) Y195C probably damaging Het
Cand2 T C 6: 115,759,755 (GRCm39) I142T probably benign Het
Cdh15 T C 8: 123,592,062 (GRCm39) probably benign Het
Ceacam5 G A 7: 17,479,534 (GRCm39) G217D probably damaging Het
Cfap54 T A 10: 92,917,385 (GRCm39) H25L unknown Het
Cfap95 A G 19: 23,630,100 (GRCm39) probably benign Het
Col22a1 A G 15: 71,778,889 (GRCm39) V266A probably benign Het
D3Ertd751e A G 3: 41,703,132 (GRCm39) D69G probably benign Het
Dnah3 T C 7: 119,622,164 (GRCm39) I1518V probably damaging Het
Entpd8 A G 2: 24,974,358 (GRCm39) K381R probably benign Het
Fli1 T A 9: 32,335,397 (GRCm39) K345I probably damaging Het
G6pd2 T C 5: 61,967,281 (GRCm39) V352A probably damaging Het
Gbp11 C T 5: 105,475,482 (GRCm39) probably null Het
Gm11992 A G 11: 9,018,383 (GRCm39) *292W probably null Het
Ifnar2 T A 16: 91,188,599 (GRCm39) probably benign Het
Impg1 T C 9: 80,230,111 (GRCm39) K661R probably benign Het
Inf2 G T 12: 112,578,290 (GRCm39) E651* probably null Het
Ints1 A G 5: 139,753,258 (GRCm39) probably benign Het
Iqcf4 T C 9: 106,447,832 (GRCm39) K26E probably benign Het
Map4k3 A G 17: 80,951,613 (GRCm39) V289A probably benign Het
Mis18bp1 T C 12: 65,205,215 (GRCm39) K319R possibly damaging Het
Nubpl T C 12: 52,352,638 (GRCm39) V291A probably damaging Het
Or4f56 A G 2: 111,703,295 (GRCm39) F302L probably benign Het
Or8b57 A G 9: 40,003,324 (GRCm39) S313P possibly damaging Het
Or8k38 T C 2: 86,488,551 (GRCm39) N84D probably benign Het
Otof A G 5: 30,598,723 (GRCm39) S29P probably benign Het
Pcca A G 14: 122,927,545 (GRCm39) D436G possibly damaging Het
Rasef T A 4: 73,645,882 (GRCm39) T496S probably damaging Het
Saa2 A G 7: 46,402,896 (GRCm39) D49G probably benign Het
Scart1 T A 7: 139,804,552 (GRCm39) probably null Het
Scn2a A G 2: 65,547,852 (GRCm39) I1015V probably benign Het
Sim2 T C 16: 93,907,119 (GRCm39) Y154H possibly damaging Het
Spag17 A G 3: 100,002,865 (GRCm39) H1863R probably benign Het
Supt16 C T 14: 52,414,489 (GRCm39) E438K probably benign Het
Svil A G 18: 5,064,501 (GRCm39) E1111G probably benign Het
Trabd2b T C 4: 114,266,322 (GRCm39) V112A probably damaging Het
Vmn1r205 T C 13: 22,776,273 (GRCm39) I276M probably benign Het
Vps13d A T 4: 144,882,776 (GRCm39) I939N possibly damaging Het
Zc3h11a T C 1: 133,553,600 (GRCm39) M515V probably benign Het
Zfp457 T C 13: 67,442,330 (GRCm39) T82A possibly damaging Het
Other mutations in Or4k15c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01432:Or4k15c APN 14 50,321,404 (GRCm39) missense probably benign 0.07
IGL01788:Or4k15c APN 14 50,321,959 (GRCm39) missense probably damaging 1.00
IGL01957:Or4k15c APN 14 50,321,737 (GRCm39) missense probably benign 0.00
IGL02132:Or4k15c APN 14 50,321,943 (GRCm39) missense probably damaging 1.00
R0611:Or4k15c UTSW 14 50,321,310 (GRCm39) missense probably damaging 1.00
R0689:Or4k15c UTSW 14 50,321,689 (GRCm39) missense probably benign 0.01
R1556:Or4k15c UTSW 14 50,321,916 (GRCm39) missense possibly damaging 0.90
R1710:Or4k15c UTSW 14 50,321,827 (GRCm39) missense probably benign 0.01
R1791:Or4k15c UTSW 14 50,321,499 (GRCm39) missense probably benign 0.03
R1804:Or4k15c UTSW 14 50,321,359 (GRCm39) missense probably damaging 0.99
R1853:Or4k15c UTSW 14 50,321,577 (GRCm39) missense probably damaging 1.00
R2034:Or4k15c UTSW 14 50,321,440 (GRCm39) missense probably benign 0.34
R3155:Or4k15c UTSW 14 50,321,982 (GRCm39) missense probably benign 0.09
R3156:Or4k15c UTSW 14 50,321,982 (GRCm39) missense probably benign 0.09
R3939:Or4k15c UTSW 14 50,321,173 (GRCm39) makesense probably null
R4392:Or4k15c UTSW 14 50,322,060 (GRCm39) missense probably benign 0.24
R4533:Or4k15c UTSW 14 50,321,156 (GRCm39) splice site probably null
R4694:Or4k15c UTSW 14 50,321,476 (GRCm39) missense probably benign
R5183:Or4k15c UTSW 14 50,322,003 (GRCm39) missense probably damaging 0.99
R5859:Or4k15c UTSW 14 50,321,484 (GRCm39) missense probably damaging 1.00
R6186:Or4k15c UTSW 14 50,321,982 (GRCm39) missense probably damaging 0.98
R6357:Or4k15c UTSW 14 50,321,446 (GRCm39) missense probably damaging 0.99
R6771:Or4k15c UTSW 14 50,321,446 (GRCm39) missense probably damaging 0.99
R6834:Or4k15c UTSW 14 50,321,685 (GRCm39) missense probably damaging 0.99
R6924:Or4k15c UTSW 14 50,321,307 (GRCm39) missense possibly damaging 0.91
R7953:Or4k15c UTSW 14 50,321,367 (GRCm39) missense possibly damaging 0.53
R8043:Or4k15c UTSW 14 50,321,367 (GRCm39) missense possibly damaging 0.53
R8255:Or4k15c UTSW 14 50,321,329 (GRCm39) missense noncoding transcript
R9444:Or4k15c UTSW 14 50,321,869 (GRCm39) missense
Posted On 2013-10-07