Incidental Mutation 'IGL02429:Olfr978'
ID293026
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr978
Ensembl Gene ENSMUSG00000044292
Gene Nameolfactory receptor 978
SynonymsMOR223-3, GA_x6K02T2PVTD-33692287-33693222
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.134) question?
Stock #IGL02429
Quality Score
Status
Chromosome9
Chromosomal Location39992113-39995095 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 39993842 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 11 (F11I)
Ref Sequence ENSEMBL: ENSMUSP00000151115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057161] [ENSMUST00000215523] [ENSMUST00000217600]
Predicted Effect probably benign
Transcript: ENSMUST00000057161
AA Change: F11I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000060106
Gene: ENSMUSG00000044292
AA Change: F11I

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 3.2e-56 PFAM
Pfam:7tm_1 39 287 1.4e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215523
Predicted Effect probably benign
Transcript: ENSMUST00000217600
AA Change: F11I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acmsd A T 1: 127,759,716 D245V probably damaging Het
Adamts16 G A 13: 70,787,170 probably benign Het
Arhgap36 A G X: 49,494,706 D77G possibly damaging Het
Asap1 A T 15: 64,167,740 M187K probably damaging Het
Aspm T C 1: 139,479,810 V2145A probably benign Het
Casc4 A G 2: 121,911,987 T306A probably benign Het
Cd46 T C 1: 195,085,424 T110A probably benign Het
Chl1 T A 6: 103,664,809 probably benign Het
Clca3b A G 3: 144,828,135 L493S probably damaging Het
Col11a2 C T 17: 34,042,292 T72M probably damaging Het
Cyfip1 T A 7: 55,871,982 probably benign Het
Frmd4b T C 6: 97,325,429 probably benign Het
Glyr1 A G 16: 5,019,376 M397T probably benign Het
Gtf2a1l G T 17: 88,668,713 M1I probably null Het
Hdac4 A G 1: 92,012,695 L154P probably benign Het
Ints8 A T 4: 11,231,720 C422S probably damaging Het
Kng2 T A 16: 23,012,079 K160I probably damaging Het
Lrrc23 C A 6: 124,778,167 A136S probably damaging Het
Ltf T C 9: 111,026,125 I402T possibly damaging Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Mfsd4a T C 1: 132,028,499 H509R probably benign Het
Mthfd1l A G 10: 4,089,334 K782E probably damaging Het
Mvb12b G A 2: 33,827,788 R114W probably damaging Het
Myh4 A T 11: 67,258,982 K1818* probably null Het
Myo1h C T 5: 114,359,738 probably benign Het
Ncapd3 T A 9: 27,089,302 S1402T probably benign Het
Nutm2 A G 13: 50,469,480 N71S probably benign Het
Oas1c C A 5: 120,802,068 M344I probably benign Het
Phldb1 A G 9: 44,700,950 L1019P probably damaging Het
Plxnc1 T C 10: 94,882,591 E494G probably benign Het
Pole T C 5: 110,299,800 I734T probably benign Het
Ppp1r3b T C 8: 35,384,615 S203P probably benign Het
Pth2r G T 1: 65,346,839 M240I probably benign Het
Ptprr T A 10: 116,273,767 F394I probably damaging Het
Rabgef1 T C 5: 130,210,488 S265P possibly damaging Het
Rbpjl A G 2: 164,413,895 D353G possibly damaging Het
Rfc3 A G 5: 151,651,131 Y8H probably benign Het
Rph3a A T 5: 120,980,124 probably null Het
Runx1t1 A T 4: 13,865,294 probably benign Het
Slc37a1 T A 17: 31,300,509 probably null Het
Slc38a10 T C 11: 120,134,888 probably benign Het
Slc38a6 T C 12: 73,350,568 V328A probably benign Het
Slf2 T C 19: 44,941,728 S415P probably benign Het
Spata17 C A 1: 187,140,434 R60L possibly damaging Het
Svil T A 18: 5,118,369 D2237E probably benign Het
Swap70 T A 7: 110,263,972 N169K probably benign Het
Tnfrsf11a A G 1: 105,827,718 D505G probably benign Het
Traf1 A G 2: 34,949,103 V70A probably benign Het
Traf3 T A 12: 111,243,465 V165E probably benign Het
Trpc5 T C X: 144,411,799 E570G probably damaging Het
Ubash3a A G 17: 31,241,305 N601S probably benign Het
Vmn2r30 C T 7: 7,334,244 C131Y possibly damaging Het
Vmn2r43 T C 7: 8,255,552 I221V probably benign Het
Vmn2r97 T A 17: 18,930,334 V481E possibly damaging Het
Wisp3 T C 10: 39,154,993 N178S probably benign Het
Other mutations in Olfr978
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01570:Olfr978 APN 9 39994329 missense probably damaging 0.99
IGL02887:Olfr978 APN 9 39993813 start codon destroyed probably null 0.99
R0190:Olfr978 UTSW 9 39994544 missense probably benign 0.01
R0355:Olfr978 UTSW 9 39994163 missense possibly damaging 0.72
R1348:Olfr978 UTSW 9 39993828 missense probably benign
R1856:Olfr978 UTSW 9 39994359 missense probably benign 0.29
R3853:Olfr978 UTSW 9 39994154 missense probably damaging 0.99
R3886:Olfr978 UTSW 9 39994539 missense probably damaging 1.00
R5678:Olfr978 UTSW 9 39993903 missense probably benign 0.00
R5994:Olfr978 UTSW 9 39994223 nonsense probably null
R6185:Olfr978 UTSW 9 39994124 missense probably benign 0.19
R6721:Olfr978 UTSW 9 39994307 missense possibly damaging 0.55
X0025:Olfr978 UTSW 9 39993944 missense possibly damaging 0.62
Posted On2015-04-16