Incidental Mutation 'IGL03065:Olfr730'
ID409665
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr730
Ensembl Gene ENSMUSG00000109835
Gene Nameolfactory receptor 730
SynonymsGA_x6K02T2PMLR-5881670-5880717, MOR247-1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.415) question?
Stock #IGL03065
Quality Score
Status
Chromosome14
Chromosomal Location50183296-50188198 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 50187008 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 70 (D70Y)
Ref Sequence ENSEMBL: ENSMUSP00000145742 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051453] [ENSMUST00000205837]
Predicted Effect probably damaging
Transcript: ENSMUST00000051453
AA Change: D71Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060325
Gene: ENSMUSG00000109835
AA Change: D71Y

DomainStartEndE-ValueType
Pfam:7tm_4 32 305 3.4e-44 PFAM
Pfam:7tm_1 42 288 1.2e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000205837
AA Change: D70Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215779
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: 83,938,514 M1322V possibly damaging Het
Adprh C T 16: 38,446,034 V249I probably benign Het
Als2 T C 1: 59,215,872 S109G probably benign Het
Bpifa1 T A 2: 154,147,642 N250K probably damaging Het
Capn9 A C 8: 124,605,559 Y423S probably damaging Het
Cd200r1 T G 16: 44,794,282 V308G probably benign Het
Cic T C 7: 25,285,821 probably benign Het
Col5a1 T A 2: 28,032,745 I275N possibly damaging Het
Col6a4 C A 9: 106,041,164 probably benign Het
Cpeb1 T C 7: 81,436,290 R35G probably benign Het
Cul1 A G 6: 47,495,081 Y52C probably damaging Het
Dctn1 T C 6: 83,192,493 F496L probably damaging Het
Dock11 G T X: 36,047,046 probably benign Het
Eaf2 C T 16: 36,828,122 R12H probably benign Het
Gcc1 T A 6: 28,418,402 Q644L possibly damaging Het
Gm44865 C T 7: 108,565,797 probably benign Het
Gm6614 C A 6: 141,992,502 L230F probably damaging Het
Golgb1 C T 16: 36,912,866 S825L probably benign Het
Gstp3 C T 19: 4,058,730 probably null Het
Heph T A X: 96,527,567 I669N probably benign Het
Il12rb1 A T 8: 70,820,558 Y635F possibly damaging Het
Ing3 G A 6: 21,971,222 A331T probably benign Het
Ipo8 T A 6: 148,784,707 I762F probably benign Het
Itpr3 G A 17: 27,091,933 R510Q probably damaging Het
Kif16b A G 2: 142,619,913 Y1273H probably damaging Het
Map3k14 T C 11: 103,225,101 E784G probably damaging Het
Mpdz A T 4: 81,292,565 N1694K probably damaging Het
Myh13 T C 11: 67,344,853 F648S probably damaging Het
Myh4 A G 11: 67,259,156 H1847R probably benign Het
Ncoa7 T A 10: 30,647,997 D840V probably damaging Het
Nxpe2 T A 9: 48,319,692 N459I possibly damaging Het
Olfr1297 T C 2: 111,621,190 K295E probably damaging Het
Olfr1426 C A 19: 12,088,611 L60F possibly damaging Het
Ovgp1 T C 3: 105,986,366 F485S probably benign Het
Parp4 G T 14: 56,637,869 A1182S probably benign Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Pla2g15 G A 8: 106,160,219 R114H probably benign Het
Plppr3 T A 10: 79,866,046 T321S probably benign Het
Rnf113a1 A G X: 37,192,095 D235G probably benign Het
Rsrp1 A G 4: 134,924,389 T155A possibly damaging Het
Simc1 G T 13: 54,537,212 C87F probably damaging Het
Slco1a5 A G 6: 142,248,843 probably benign Het
Smyd5 A G 6: 85,442,164 D276G possibly damaging Het
Spata5 T C 3: 37,432,179 V350A possibly damaging Het
Tmem132c A G 5: 127,563,624 Y953C probably damaging Het
Trank1 T A 9: 111,390,293 S2033T possibly damaging Het
Trim69 A G 2: 122,178,634 T392A probably damaging Het
Tsks T C 7: 44,943,300 V6A probably damaging Het
Yjefn3 A G 8: 69,889,556 probably benign Het
Zfp263 T G 16: 3,746,480 D211E probably benign Het
Zfp994 A T 17: 22,202,680 F51L probably damaging Het
Znfx1 A T 2: 167,055,765 M413K probably benign Het
Other mutations in Olfr730
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01998:Olfr730 APN 14 50186648 missense probably benign 0.36
IGL02976:Olfr730 APN 14 50186432 nonsense probably null
IGL03122:Olfr730 APN 14 50187004 missense probably damaging 0.98
R0277:Olfr730 UTSW 14 50186332 missense probably null 0.06
R1081:Olfr730 UTSW 14 50187197 missense probably damaging 1.00
R1189:Olfr730 UTSW 14 50187082 missense probably damaging 0.99
R1501:Olfr730 UTSW 14 50187082 missense probably damaging 0.99
R2680:Olfr730 UTSW 14 50186847 nonsense probably null
R2869:Olfr730 UTSW 14 50186354 missense probably benign 0.08
R2869:Olfr730 UTSW 14 50186354 missense probably benign 0.08
R3415:Olfr730 UTSW 14 50186612 missense possibly damaging 0.60
R3417:Olfr730 UTSW 14 50186612 missense possibly damaging 0.60
R3721:Olfr730 UTSW 14 50186680 missense probably damaging 1.00
R4864:Olfr730 UTSW 14 50186582 missense probably damaging 0.97
R5037:Olfr730 UTSW 14 50186288 missense probably benign 0.00
R5349:Olfr730 UTSW 14 50186773 nonsense probably null
R5738:Olfr730 UTSW 14 50186648 missense probably benign 0.09
R5779:Olfr730 UTSW 14 50186746 missense possibly damaging 0.82
R5853:Olfr730 UTSW 14 50186869 missense possibly damaging 0.88
R5918:Olfr730 UTSW 14 50186968 missense probably benign
R6166:Olfr730 UTSW 14 50186768 missense probably benign
R6196:Olfr730 UTSW 14 50186678 missense probably damaging 1.00
R6218:Olfr730 UTSW 14 50186678 missense probably damaging 1.00
R6220:Olfr730 UTSW 14 50186678 missense probably damaging 1.00
R6561:Olfr730 UTSW 14 50186318 missense probably damaging 1.00
R6798:Olfr730 UTSW 14 50187127 missense probably benign 0.00
R6834:Olfr730 UTSW 14 50186483 missense probably benign 0.12
R7174:Olfr730 UTSW 14 50186696 missense probably benign 0.00
R7406:Olfr730 UTSW 14 50186558 missense probably damaging 0.97
R7592:Olfr730 UTSW 14 50186563 missense probably damaging 1.00
R7886:Olfr730 UTSW 14 50186564 missense probably damaging 1.00
R8081:Olfr730 UTSW 14 50186368 missense probably damaging 1.00
R8280:Olfr730 UTSW 14 50186266 nonsense probably null
R8393:Olfr730 UTSW 14 50186885 nonsense probably null
X0023:Olfr730 UTSW 14 50187201 missense probably damaging 1.00
Posted On2016-08-02