Incidental Mutation 'IGL03065:Or4k47'
ID 409645
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4k47
Ensembl Gene ENSMUSG00000094858
Gene Name olfactory receptor family 4 subfamily K member 47
Synonyms GA_x6K02T2Q125-72673494-72672556, Olfr1297, MOR248-4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # IGL03065
Quality Score
Status
Chromosome 2
Chromosomal Location 111451479-111452417 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 111451535 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 295 (K295E)
Ref Sequence ENSEMBL: ENSMUSP00000150543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099612] [ENSMUST00000207283] [ENSMUST00000213398]
AlphaFold Q8VGE8
Predicted Effect probably damaging
Transcript: ENSMUST00000099612
AA Change: K295E

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097207
Gene: ENSMUSG00000094858
AA Change: K295E

DomainStartEndE-ValueType
Pfam:7tm_4 31 304 4.8e-48 PFAM
Pfam:7tm_1 41 287 6.7e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207283
AA Change: K295E
Predicted Effect probably damaging
Transcript: ENSMUST00000213398
AA Change: K295E

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; 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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 A G 8: 84,665,143 (GRCm39) M1322V possibly damaging Het
Adprh C T 16: 38,266,396 (GRCm39) V249I probably benign Het
Afg2a T C 3: 37,486,328 (GRCm39) V350A possibly damaging Het
Als2 T C 1: 59,255,031 (GRCm39) S109G probably benign Het
Bpifa1 T A 2: 153,989,562 (GRCm39) N250K probably damaging Het
Capn9 A C 8: 125,332,298 (GRCm39) Y423S probably damaging Het
Cd200r1 T G 16: 44,614,645 (GRCm39) V308G probably benign Het
Cic T C 7: 24,985,246 (GRCm39) probably benign Het
Col5a1 T A 2: 27,922,757 (GRCm39) I275N possibly damaging Het
Col6a4 C A 9: 105,918,363 (GRCm39) probably benign Het
Cpeb1 T C 7: 81,086,038 (GRCm39) R35G probably benign Het
Cul1 A G 6: 47,472,015 (GRCm39) Y52C probably damaging Het
Dctn1 T C 6: 83,169,475 (GRCm39) F496L probably damaging Het
Dock11 G T X: 35,310,699 (GRCm39) probably benign Het
Eaf2 C T 16: 36,648,484 (GRCm39) R12H probably benign Het
Gcc1 T A 6: 28,418,401 (GRCm39) Q644L possibly damaging Het
Gm44865 C T 7: 108,165,004 (GRCm39) probably benign Het
Golgb1 C T 16: 36,733,228 (GRCm39) S825L probably benign Het
Gstp3 C T 19: 4,108,730 (GRCm39) probably null Het
Heph T A X: 95,571,173 (GRCm39) I669N probably benign Het
Il12rb1 A T 8: 71,273,202 (GRCm39) Y635F possibly damaging Het
Ing3 G A 6: 21,971,221 (GRCm39) A331T probably benign Het
Ipo8 T A 6: 148,686,205 (GRCm39) I762F probably benign Het
Itpr3 G A 17: 27,310,907 (GRCm39) R510Q probably damaging Het
Kif16b A G 2: 142,461,833 (GRCm39) Y1273H probably damaging Het
Map3k14 T C 11: 103,115,927 (GRCm39) E784G probably damaging Het
Mpdz A T 4: 81,210,802 (GRCm39) N1694K probably damaging Het
Myh13 T C 11: 67,235,679 (GRCm39) F648S probably damaging Het
Myh4 A G 11: 67,149,982 (GRCm39) H1847R probably benign Het
Ncoa7 T A 10: 30,523,993 (GRCm39) D840V probably damaging Het
Nxpe2 T A 9: 48,230,992 (GRCm39) N459I possibly damaging Het
Or4d10c C A 19: 12,065,975 (GRCm39) L60F possibly damaging Het
Or4k2 C A 14: 50,424,465 (GRCm39) D70Y probably damaging Het
Ovgp1 T C 3: 105,893,682 (GRCm39) F485S probably benign Het
Parp4 G T 14: 56,875,326 (GRCm39) A1182S probably benign Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Pla2g15 G A 8: 106,886,851 (GRCm39) R114H probably benign Het
Plppr3 T A 10: 79,701,880 (GRCm39) T321S probably benign Het
Rnf113a1 A G X: 36,455,748 (GRCm39) D235G probably benign Het
Rsrp1 A G 4: 134,651,700 (GRCm39) T155A possibly damaging Het
Simc1 G T 13: 54,685,025 (GRCm39) C87F probably damaging Het
Slco1a5 A G 6: 142,194,569 (GRCm39) probably benign Het
Slco1a8 C A 6: 141,938,228 (GRCm39) L230F probably damaging Het
Smyd5 A G 6: 85,419,146 (GRCm39) D276G possibly damaging Het
Tmem132c A G 5: 127,640,688 (GRCm39) Y953C probably damaging Het
Trank1 T A 9: 111,219,361 (GRCm39) S2033T possibly damaging Het
Trim69 A G 2: 122,009,115 (GRCm39) T392A probably damaging Het
Tsks T C 7: 44,592,724 (GRCm39) V6A probably damaging Het
Yjefn3 A G 8: 70,342,206 (GRCm39) probably benign Het
Zfp263 T G 16: 3,564,344 (GRCm39) D211E probably benign Het
Zfp994 A T 17: 22,421,661 (GRCm39) F51L probably damaging Het
Znfx1 A T 2: 166,897,685 (GRCm39) M413K probably benign Het
Other mutations in Or4k47
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01068:Or4k47 APN 2 111,451,685 (GRCm39) missense probably damaging 1.00
IGL01305:Or4k47 APN 2 111,451,546 (GRCm39) missense probably damaging 1.00
IGL01903:Or4k47 APN 2 111,452,003 (GRCm39) missense probably benign 0.01
IGL01984:Or4k47 APN 2 111,451,927 (GRCm39) missense probably benign 0.34
ANU22:Or4k47 UTSW 2 111,451,546 (GRCm39) missense probably damaging 1.00
R0313:Or4k47 UTSW 2 111,451,945 (GRCm39) missense possibly damaging 0.77
R0615:Or4k47 UTSW 2 111,452,264 (GRCm39) missense possibly damaging 0.95
R1028:Or4k47 UTSW 2 111,451,870 (GRCm39) missense probably damaging 1.00
R1078:Or4k47 UTSW 2 111,451,690 (GRCm39) missense probably damaging 1.00
R1158:Or4k47 UTSW 2 111,452,086 (GRCm39) missense probably damaging 1.00
R1419:Or4k47 UTSW 2 111,451,640 (GRCm39) missense probably benign 0.05
R1980:Or4k47 UTSW 2 111,451,586 (GRCm39) missense probably benign 0.00
R1981:Or4k47 UTSW 2 111,451,586 (GRCm39) missense probably benign 0.00
R2044:Or4k47 UTSW 2 111,452,159 (GRCm39) missense probably benign 0.02
R2080:Or4k47 UTSW 2 111,452,084 (GRCm39) missense probably benign
R2170:Or4k47 UTSW 2 111,451,945 (GRCm39) missense possibly damaging 0.77
R4494:Or4k47 UTSW 2 111,451,493 (GRCm39) nonsense probably null
R4965:Or4k47 UTSW 2 111,451,879 (GRCm39) missense probably damaging 1.00
R5175:Or4k47 UTSW 2 111,451,771 (GRCm39) missense possibly damaging 0.78
R5891:Or4k47 UTSW 2 111,451,778 (GRCm39) missense probably damaging 1.00
R6192:Or4k47 UTSW 2 111,451,520 (GRCm39) missense possibly damaging 0.91
R6383:Or4k47 UTSW 2 111,451,531 (GRCm39) missense probably benign 0.10
R6730:Or4k47 UTSW 2 111,452,080 (GRCm39) missense probably damaging 0.96
R7189:Or4k47 UTSW 2 111,451,538 (GRCm39) missense probably benign 0.03
R7193:Or4k47 UTSW 2 111,451,600 (GRCm39) missense probably damaging 1.00
R7199:Or4k47 UTSW 2 111,451,538 (GRCm39) missense probably benign 0.01
R7735:Or4k47 UTSW 2 111,451,819 (GRCm39) missense probably damaging 1.00
R8017:Or4k47 UTSW 2 111,452,412 (GRCm39) missense probably benign 0.00
R8019:Or4k47 UTSW 2 111,452,412 (GRCm39) missense probably benign 0.00
R8285:Or4k47 UTSW 2 111,452,390 (GRCm39) missense probably benign 0.32
R8419:Or4k47 UTSW 2 111,451,849 (GRCm39) missense probably benign 0.10
R9258:Or4k47 UTSW 2 111,452,329 (GRCm39) missense possibly damaging 0.77
X0063:Or4k47 UTSW 2 111,451,726 (GRCm39) missense probably benign 0.04
Z1176:Or4k47 UTSW 2 111,451,606 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02