Incidental Mutation 'IGL03136:Olfr974'
ID410529
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr974
Ensembl Gene ENSMUSG00000051493
Gene Nameolfactory receptor 974
SynonymsGA_x6K02T2PVTD-33640290-33641222, MOR171-1
Accession Numbers

Genbank: NM_147107

Is this an essential gene? Probably non essential (E-score: 0.077) question?
Stock #IGL03136
Quality Score
Status
Chromosome9
Chromosomal Location39937501-39945170 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 39943036 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 259 (Y259H)
Ref Sequence ENSEMBL: ENSMUSP00000149630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062833] [ENSMUST00000213246]
Predicted Effect probably damaging
Transcript: ENSMUST00000062833
AA Change: Y259H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062985
Gene: ENSMUSG00000051493
AA Change: Y259H

DomainStartEndE-ValueType
Pfam:7tm_4 31 306 3.6e-52 PFAM
Pfam:7tm_1 41 290 1.3e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213246
AA Change: Y259H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730522E02Rik A G 11: 25,769,122 L7S unknown Het
Abr C T 11: 76,425,295 W571* probably null Het
Adam18 A T 8: 24,641,836 C420S probably damaging Het
Akap5 G T 12: 76,329,875 E694* probably null Het
Bbs1 T C 19: 4,890,991 K565R probably benign Het
Brix1 A G 15: 10,478,766 F189S probably damaging Het
Cnot4 C A 6: 35,051,241 R480L probably damaging Het
Ctu2 A G 8: 122,479,201 probably benign Het
Dhcr7 A G 7: 143,847,366 H422R probably damaging Het
Dock1 A G 7: 135,168,389 M1793V probably benign Het
Dock7 A G 4: 99,003,791 F853L probably damaging Het
Fkbp15 G A 4: 62,340,229 probably benign Het
Ftsj3 C T 11: 106,253,813 D117N probably damaging Het
Gphn A G 12: 78,481,333 I142V possibly damaging Het
Hsd3b1 G A 3: 98,852,985 A230V probably damaging Het
Hydin G A 8: 110,418,524 A836T probably benign Het
Ift52 G T 2: 163,025,334 E71* probably null Het
Ms4a14 T C 19: 11,304,411 D261G possibly damaging Het
Nid1 G A 13: 13,500,499 V935I probably benign Het
Nrap T C 19: 56,342,255 K1008E possibly damaging Het
Nup210 A C 6: 91,028,861 V1340G probably benign Het
Olfr1442 T A 19: 12,674,967 I254N probably damaging Het
Olfr169 A T 16: 19,566,353 F177I probably damaging Het
Pcdhb15 C A 18: 37,475,014 T433N probably damaging Het
Pdcd6ip T A 9: 113,691,499 N139I probably damaging Het
Pgbd1 A G 13: 21,433,439 V80A possibly damaging Het
Pigw A G 11: 84,877,777 I242T probably benign Het
Prtg T G 9: 72,856,985 V580G possibly damaging Het
Ptpn13 T A 5: 103,543,463 N1065K possibly damaging Het
Qrich1 G A 9: 108,544,918 R577H probably damaging Het
Ryr3 G A 2: 112,675,974 probably benign Het
Selenoi T C 5: 30,257,727 Y197H probably damaging Het
Slc47a2 A G 11: 61,310,765 C343R probably benign Het
Smurf2 A T 11: 106,831,048 D527E probably benign Het
Spam1 C T 6: 24,797,011 probably benign Het
Stkld1 T C 2: 26,951,423 V460A probably benign Het
Tgoln1 G A 6: 72,614,113 R339W probably damaging Het
Tprg T C 16: 25,412,762 probably benign Het
Treml1 T G 17: 48,364,851 probably benign Het
Ttc39b A T 4: 83,237,280 V497E probably damaging Het
Vmn1r223 A G 13: 23,249,763 T176A possibly damaging Het
Vmn2r75 A T 7: 86,148,703 I634N possibly damaging Het
Vps13c A G 9: 67,950,310 E2608G probably damaging Het
Zfp575 A G 7: 24,585,956 C87R probably damaging Het
Zfp790 T A 7: 29,829,895 Y668* probably null Het
Other mutations in Olfr974
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01095:Olfr974 APN 9 39942680 missense probably benign 0.08
IGL01638:Olfr974 APN 9 39942520 missense probably benign 0.03
IGL02826:Olfr974 APN 9 39942958 missense probably damaging 1.00
H2330:Olfr974 UTSW 9 39942920 missense probably damaging 1.00
R0005:Olfr974 UTSW 9 39942956 missense probably benign
R0106:Olfr974 UTSW 9 39942823 frame shift probably null
R1769:Olfr974 UTSW 9 39942955 missense probably benign 0.43
R1870:Olfr974 UTSW 9 39942821 missense probably damaging 0.99
R4416:Olfr974 UTSW 9 39942428 missense probably damaging 1.00
R4860:Olfr974 UTSW 9 39942504 missense probably benign 0.04
R4860:Olfr974 UTSW 9 39942504 missense probably benign 0.04
R5105:Olfr974 UTSW 9 39942398 missense probably benign 0.19
R5273:Olfr974 UTSW 9 39942557 missense probably benign
R6520:Olfr974 UTSW 9 39942362 missense possibly damaging 0.90
R7203:Olfr974 UTSW 9 39942509 missense probably benign 0.01
Posted On2016-08-02