Incidental Mutation 'IGL03184:Or51a42'
ID 412381
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or51a42
Ensembl Gene ENSMUSG00000109824
Gene Name olfactory receptor family 51 subfamily A member 42
Synonyms MOR13-2, Olfr643, GA_x6K02T2PBJ9-6793628-6792684
Accession Numbers
Essential gene? Not available question?
Stock # IGL03184
Quality Score
Status
Chromosome 7
Chromosomal Location 103707863-103708807 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103708054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 252 (I252F)
Ref Sequence ENSEMBL: ENSMUSP00000150133 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074064] [ENSMUST00000138055] [ENSMUST00000217217]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000074064
AA Change: I252F

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000073707
Gene: ENSMUSG00000090219
AA Change: I252F

DomainStartEndE-ValueType
Pfam:7tm_4 33 312 2.6e-124 PFAM
Pfam:7TM_GPCR_Srsx 37 255 3.1e-7 PFAM
Pfam:7tm_1 43 294 3.2e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138055
SMART Domains Protein: ENSMUSP00000139240
Gene: ENSMUSG00000109824

DomainStartEndE-ValueType
transmembrane domain 29 51 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000217217
AA Change: I252F

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,471,570 (GRCm39) Y992H possibly damaging Het
Actmap A G 7: 26,896,432 (GRCm39) probably benign Het
Adcy7 T A 8: 89,035,271 (GRCm39) D58E probably benign Het
Aff2 G A X: 68,810,840 (GRCm39) V404M possibly damaging Het
Ankhd1 T A 18: 36,780,830 (GRCm39) L1961M probably damaging Het
Brms1l T C 12: 55,915,062 (GRCm39) *324Q probably null Het
Bub1b T C 2: 118,440,258 (GRCm39) probably benign Het
Cacna1b A G 2: 24,548,501 (GRCm39) probably null Het
Clrn1 T A 3: 58,753,645 (GRCm39) T239S probably benign Het
Clta T C 4: 44,025,514 (GRCm39) Y145H probably benign Het
Coro6 T C 11: 77,354,779 (GRCm39) V14A probably damaging Het
Cyp4a30b A G 4: 115,316,216 (GRCm39) D314G probably damaging Het
Fn1 T C 1: 71,648,656 (GRCm39) N1418D probably benign Het
Fshr A C 17: 89,354,068 (GRCm39) L97V possibly damaging Het
Gcm2 T C 13: 41,258,888 (GRCm39) Q152R probably damaging Het
Gcnt2 A G 13: 41,041,660 (GRCm39) N273S probably benign Het
Gm11437 A T 11: 84,047,090 (GRCm39) probably benign Het
Gm4559 A G 7: 141,828,046 (GRCm39) S19P unknown Het
Igsf8 T G 1: 172,146,199 (GRCm39) I462R probably damaging Het
Kirrel3 T C 9: 34,919,052 (GRCm39) F243S probably damaging Het
Krt80 C T 15: 101,250,135 (GRCm39) V37M probably damaging Het
Lama4 T C 10: 38,954,839 (GRCm39) Y1131H probably damaging Het
Mrpl21 T C 19: 3,342,529 (GRCm39) probably benign Het
Mtcl1 T C 17: 66,661,209 (GRCm39) N923S probably benign Het
Nectin2 G A 7: 19,472,231 (GRCm39) P53S possibly damaging Het
Nup98 G A 7: 101,832,752 (GRCm39) T335I probably damaging Het
Or2y1e C A 11: 49,218,568 (GRCm39) T110K probably damaging Het
Or4a74 T C 2: 89,439,912 (GRCm39) D178G probably damaging Het
Or4e5 A G 14: 52,728,380 (GRCm39) S14P probably benign Het
Or6c69c T C 10: 129,910,627 (GRCm39) M116T possibly damaging Het
Pcdhb14 A G 18: 37,582,085 (GRCm39) E397G probably benign Het
Pcgf5 T G 19: 36,412,076 (GRCm39) probably benign Het
Pclo C T 5: 14,764,457 (GRCm39) P1025L probably damaging Het
Pdcd1lg2 C A 19: 29,431,911 (GRCm39) F226L probably benign Het
Pik3ca T A 3: 32,494,035 (GRCm39) S332R probably benign Het
Plek A T 11: 16,931,887 (GRCm39) D321E probably benign Het
Pm20d2 A G 4: 33,179,241 (GRCm39) F333L probably damaging Het
Polk T C 13: 96,620,491 (GRCm39) T570A probably benign Het
Rpgrip1l G A 8: 92,027,437 (GRCm39) L201F probably damaging Het
Serpinb2 T A 1: 107,452,607 (GRCm39) L395H probably damaging Het
Slc9c1 T G 16: 45,368,003 (GRCm39) S197R probably damaging Het
Smg1 T A 7: 117,779,603 (GRCm39) E1264V possibly damaging Het
Sned1 A G 1: 93,202,390 (GRCm39) D678G probably benign Het
Sorcs2 A G 5: 36,188,556 (GRCm39) S851P probably benign Het
Srcap A G 7: 127,129,674 (GRCm39) probably benign Het
Tbck T C 3: 132,441,864 (GRCm39) Y557H probably damaging Het
Tfap2d T C 1: 19,189,110 (GRCm39) S219P probably damaging Het
Trim9 T C 12: 70,297,995 (GRCm39) D570G probably damaging Het
Usp25 A G 16: 76,878,541 (GRCm39) Y655C probably damaging Het
Utrn T A 10: 12,585,910 (GRCm39) T956S probably benign Het
Vmn1r68 T A 7: 10,261,799 (GRCm39) I100F probably benign Het
Vps13a A T 19: 16,631,734 (GRCm39) S2634T probably benign Het
Zfp472 T A 17: 33,196,390 (GRCm39) L155* probably null Het
Zfp808 A G 13: 62,317,381 (GRCm39) I43M possibly damaging Het
Other mutations in Or51a42
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Or51a42 APN 7 103,708,623 (GRCm39) missense probably damaging 1.00
IGL00958:Or51a42 APN 7 103,708,620 (GRCm39) missense probably benign 0.14
IGL02319:Or51a42 APN 7 103,708,140 (GRCm39) missense probably damaging 1.00
R0254:Or51a42 UTSW 7 103,708,728 (GRCm39) missense probably benign 0.00
R0850:Or51a42 UTSW 7 103,708,252 (GRCm39) missense probably benign
R1443:Or51a42 UTSW 7 103,707,930 (GRCm39) missense probably damaging 1.00
R1544:Or51a42 UTSW 7 103,708,431 (GRCm39) missense probably damaging 0.99
R1669:Or51a42 UTSW 7 103,708,516 (GRCm39) missense probably benign 0.32
R1990:Or51a42 UTSW 7 103,708,335 (GRCm39) missense possibly damaging 0.96
R2207:Or51a42 UTSW 7 103,708,612 (GRCm39) missense probably damaging 1.00
R4456:Or51a42 UTSW 7 103,708,507 (GRCm39) missense possibly damaging 0.70
R4719:Or51a42 UTSW 7 103,707,940 (GRCm39) missense probably damaging 1.00
R5519:Or51a42 UTSW 7 103,708,504 (GRCm39) nonsense probably null
Z1088:Or51a42 UTSW 7 103,708,523 (GRCm39) missense possibly damaging 0.80
Posted On 2016-08-02