Incidental Mutation 'IGL03007:Or10d4'
ID 407606
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or10d4
Ensembl Gene ENSMUSG00000064110
Gene Name olfactory receptor family 10 subfamily D member 4
Synonyms MOR224-13, GA_x6K02T2PVTD-33365879-33366814, Olfr963, MOR224-7P
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # IGL03007
Quality Score
Status
Chromosome 9
Chromosomal Location 39580355-39581290 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 39580767 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 138 (V138A)
Ref Sequence ENSEMBL: ENSMUSP00000148985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073433] [ENSMUST00000215649]
AlphaFold Q7TRA9
Predicted Effect possibly damaging
Transcript: ENSMUST00000073433
AA Change: V138A

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000073139
Gene: ENSMUSG00000064110
AA Change: V138A

DomainStartEndE-ValueType
Pfam:7tm_4 29 304 1.7e-49 PFAM
Pfam:7tm_1 39 286 2.4e-22 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000215649
AA Change: V138A

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik A G 10: 29,098,034 (GRCm39) N144D possibly damaging Het
A830031A19Rik T C 11: 23,999,248 (GRCm39) probably benign Het
Ankfy1 T C 11: 72,641,347 (GRCm39) F640S probably damaging Het
Asb8 A G 15: 98,040,615 (GRCm39) Y16H probably damaging Het
Astn1 T C 1: 158,496,193 (GRCm39) probably benign Het
Btbd8 T A 5: 107,651,542 (GRCm39) V145E probably benign Het
Celf3 A G 3: 94,394,444 (GRCm39) T183A probably benign Het
Dctn1 T C 6: 83,159,690 (GRCm39) V56A probably damaging Het
Erbb2 A C 11: 98,319,819 (GRCm39) probably benign Het
Ighv6-4 A T 12: 114,370,213 (GRCm39) Y80N possibly damaging Het
Igsf9b T C 9: 27,244,378 (GRCm39) S782P probably damaging Het
Itsn1 A T 16: 91,581,050 (GRCm39) probably benign Het
Kcnt2 T A 1: 140,282,245 (GRCm39) Y77N possibly damaging Het
Lig3 T C 11: 82,680,401 (GRCm39) F359S probably damaging Het
Mtmr6 G T 14: 60,526,984 (GRCm39) probably benign Het
Muc4 C T 16: 32,570,866 (GRCm39) S642F possibly damaging Het
Ncoa1 T A 12: 4,389,114 (GRCm39) I54F possibly damaging Het
Nfx1 C A 4: 40,984,962 (GRCm39) T362K probably benign Het
Ntrk1 T C 3: 87,690,050 (GRCm39) S449G possibly damaging Het
Odc1 T A 12: 17,598,811 (GRCm39) H230Q probably benign Het
Or10h28 A G 17: 33,487,857 (GRCm39) E53G probably damaging Het
Or1j19 T C 2: 36,676,812 (GRCm39) S92P probably damaging Het
Or8d1 C T 9: 38,766,592 (GRCm39) T78I probably damaging Het
Plekhh2 A C 17: 84,882,388 (GRCm39) S665R possibly damaging Het
Qpct T A 17: 79,378,294 (GRCm39) F155I probably damaging Het
Rcor2 C A 19: 7,251,718 (GRCm39) T379K probably benign Het
Rint1 A G 5: 24,020,699 (GRCm39) N574S probably benign Het
Rsbn1 C T 3: 103,836,195 (GRCm39) A411V probably damaging Het
Sbno2 A T 10: 79,894,384 (GRCm39) probably benign Het
Sptb A G 12: 76,668,115 (GRCm39) S661P probably damaging Het
Syn3 A T 10: 85,900,778 (GRCm39) M370K possibly damaging Het
Tex101 G A 7: 24,369,906 (GRCm39) probably benign Het
Tmem255b C T 8: 13,507,066 (GRCm39) T265I possibly damaging Het
Trio G T 15: 27,902,828 (GRCm39) A211D probably damaging Het
Zfp638 C A 6: 83,961,866 (GRCm39) Q1902K probably damaging Het
Other mutations in Or10d4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02043:Or10d4 APN 9 39,580,374 (GRCm39) missense probably damaging 1.00
R1177:Or10d4 UTSW 9 39,580,937 (GRCm39) missense probably benign 0.04
R1378:Or10d4 UTSW 9 39,580,962 (GRCm39) missense probably damaging 1.00
R1517:Or10d4 UTSW 9 39,581,016 (GRCm39) missense probably damaging 0.99
R2016:Or10d4 UTSW 9 39,580,851 (GRCm39) missense probably damaging 1.00
R2212:Or10d4 UTSW 9 39,580,524 (GRCm39) missense probably damaging 1.00
R2393:Or10d4 UTSW 9 39,580,569 (GRCm39) missense possibly damaging 0.53
R5464:Or10d4 UTSW 9 39,581,066 (GRCm39) missense probably damaging 1.00
R5886:Or10d4 UTSW 9 39,581,252 (GRCm39) missense probably benign 0.01
R5935:Or10d4 UTSW 9 39,580,386 (GRCm39) missense probably benign
R7756:Or10d4 UTSW 9 39,580,371 (GRCm39) missense probably benign
R7758:Or10d4 UTSW 9 39,580,371 (GRCm39) missense probably benign
R7775:Or10d4 UTSW 9 39,580,534 (GRCm39) missense possibly damaging 0.65
R7778:Or10d4 UTSW 9 39,580,534 (GRCm39) missense possibly damaging 0.65
R8695:Or10d4 UTSW 9 39,580,376 (GRCm39) missense probably benign 0.26
R8921:Or10d4 UTSW 9 39,580,737 (GRCm39) nonsense probably null
R9133:Or10d4 UTSW 9 39,580,974 (GRCm39) missense possibly damaging 0.88
R9487:Or10d4 UTSW 9 39,580,611 (GRCm39) missense possibly damaging 0.47
Posted On 2016-08-02