Incidental Mutation 'R5383:Olfr780'
ID424855
Institutional Source Beutler Lab
Gene Symbol Olfr780
Ensembl Gene ENSMUSG00000049573
Gene Nameolfactory receptor 780
SynonymsGA_x6K02T2PULF-11002360-11003298, MOR114-12
MMRRC Submission 042958-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.653) question?
Stock #R5383 (G1)
Quality Score225
Status Validated
Chromosome10
Chromosomal Location129318117-129324141 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 129322336 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 238 (T238A)
Ref Sequence ENSEMBL: ENSMUSP00000149258 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063168] [ENSMUST00000215503]
Predicted Effect probably damaging
Transcript: ENSMUST00000063168
AA Change: T238A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000054927
Gene: ENSMUSG00000049573
AA Change: T238A

DomainStartEndE-ValueType
Pfam:7tm_4 28 306 1.4e-45 PFAM
Pfam:7tm_1 39 288 9.6e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215503
AA Change: T238A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.4819 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency 97% (61/63)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik A T 17: 8,992,700 Y227F possibly damaging Het
4921501E09Rik T C 17: 33,065,257 D857G probably benign Het
Aadac T C 3: 60,036,075 probably benign Het
Abl2 G A 1: 156,642,232 G918E possibly damaging Het
Acvr1c T C 2: 58,287,735 T241A probably damaging Het
Adck1 T C 12: 88,455,603 V328A probably benign Het
Ano6 A G 15: 95,916,037 I279V probably benign Het
AW551984 T A 9: 39,590,698 Y704F probably benign Het
C1s1 T C 6: 124,534,401 D321G probably damaging Het
Cacna1d T A 14: 30,045,279 D1910V possibly damaging Het
Ccdc129 T A 6: 55,978,290 L961H probably benign Het
Cdh5 A G 8: 104,137,847 Q480R probably benign Het
Cdhr1 C T 14: 37,089,007 V266M possibly damaging Het
Cdk5rap1 A T 2: 154,350,835 V414D possibly damaging Het
Ctdnep1 T A 11: 69,984,396 probably benign Het
Cyfip2 T C 11: 46,278,091 M212V possibly damaging Het
D130043K22Rik G A 13: 24,857,414 S273N probably benign Het
Ddi2 A G 4: 141,684,852 S250P probably damaging Het
Dennd1b A G 1: 139,167,671 T486A probably benign Het
Disc1 A G 8: 125,135,457 T523A probably damaging Het
Dmbx1 A G 4: 115,918,145 S313P probably damaging Het
Dmpk C G 7: 19,088,019 L301V probably benign Het
Dnah11 T C 12: 118,085,697 E1664G probably damaging Het
Dpysl3 A T 18: 43,438,038 V57E probably damaging Het
Fam98a C T 17: 75,538,581 G390E unknown Het
Hook3 C A 8: 26,118,989 R9L probably benign Het
Igkv4-80 A C 6: 69,016,665 S81A probably benign Het
Impg2 A G 16: 56,243,626 D298G probably benign Het
Inf2 T A 12: 112,600,145 V48D probably damaging Het
Kcnh1 G A 1: 192,505,691 G820D probably benign Het
Lsm14a C T 7: 34,389,364 A39T possibly damaging Het
Muc2 T C 7: 141,753,719 C804R probably damaging Het
Nim1k C T 13: 119,727,799 V25M probably benign Het
Olfr1246 T C 2: 89,591,113 M1V probably null Het
Olfr1484 T A 19: 13,586,075 M257K probably damaging Het
Olfr741 T A 14: 50,486,052 L198* probably null Het
Otx1 C A 11: 21,997,037 A91S probably damaging Het
Pitrm1 T A 13: 6,577,432 H856Q probably damaging Het
Pkd1 T C 17: 24,574,375 C1679R probably benign Het
Pkp4 T A 2: 59,310,273 L441* probably null Het
Ppp4r4 T C 12: 103,584,168 F284L probably benign Het
Ptprt T A 2: 161,698,049 K769M probably damaging Het
Rbm12 G T 2: 156,103,365 probably benign Het
Rpf1 T C 3: 146,519,391 D94G possibly damaging Het
Scap G T 9: 110,374,529 K310N probably damaging Het
Smpd2 C T 10: 41,488,702 probably benign Het
Sp110 TC TCC 1: 85,591,569 probably null Het
Specc1l T A 10: 75,246,705 I662N possibly damaging Het
Sptan1 T A 2: 30,011,328 V1496D probably damaging Het
Srrm4 T C 5: 116,471,260 probably benign Het
Taf2 A G 15: 55,049,419 I515T possibly damaging Het
Tdrd3 C T 14: 87,480,791 Q203* probably null Het
Tfap2b A T 1: 19,226,498 M222L probably benign Het
Tmem43 G A 6: 91,473,890 A2T probably benign Het
Trav9-1 T A 14: 53,488,376 I49N probably benign Het
Trim23 T G 13: 104,198,697 N410K probably damaging Het
Ttbk1 T C 17: 46,467,416 T567A probably damaging Het
Unc79 A G 12: 103,104,627 N1081S possibly damaging Het
Zfp451 A C 1: 33,813,806 I9R probably damaging Het
Zfp563 T A 17: 33,104,707 M92K probably benign Het
Zfp618 G A 4: 63,095,492 G198D probably benign Het
Zfp637 G T 6: 117,843,309 probably benign Het
Other mutations in Olfr780
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01867:Olfr780 APN 10 129321716 missense probably benign 0.00
IGL02817:Olfr780 APN 10 129321895 missense probably benign 0.01
IGL03121:Olfr780 APN 10 129322168 missense probably benign 0.11
IGL03396:Olfr780 APN 10 129322047 missense probably benign 0.01
R0586:Olfr780 UTSW 10 129322047 missense probably benign 0.01
R0601:Olfr780 UTSW 10 129322016 missense possibly damaging 0.52
R1957:Olfr780 UTSW 10 129321871 missense possibly damaging 0.95
R3915:Olfr780 UTSW 10 129322309 missense probably benign 0.14
R4419:Olfr780 UTSW 10 129321815 missense possibly damaging 0.95
R6030:Olfr780 UTSW 10 129322369 missense probably benign 0.02
R6030:Olfr780 UTSW 10 129322369 missense probably benign 0.02
R6762:Olfr780 UTSW 10 129322256 missense probably damaging 0.97
R7259:Olfr780 UTSW 10 129321794 missense probably benign 0.13
R7575:Olfr780 UTSW 10 129321859 missense probably damaging 1.00
R7904:Olfr780 UTSW 10 129321796 missense probably damaging 1.00
R7987:Olfr780 UTSW 10 129321796 missense probably damaging 1.00
Z1176:Olfr780 UTSW 10 129322219 missense probably benign 0.11
Predicted Primers PCR Primer
(F):5'- TCACCTGGAATTCTGTGACTC -3'
(R):5'- CCTGAGAAGCTTGTTTAACTTGC -3'

Sequencing Primer
(F):5'- GGATGTGATGCAAACCCTATTTTG -3'
(R):5'- AGAAGCTTGTTTAACTTGCTTGTTCC -3'
Posted On2016-08-04