Incidental Mutation 'R4255:Or2ak7'
ID 321792
Institutional Source Beutler Lab
Gene Symbol Or2ak7
Ensembl Gene ENSMUSG00000107711
Gene Name olfactory receptor family 2 subfamily AK member 7
Synonyms MOR285-4, GA_x6K02T2NKPP-730312-729392, Olfr320, GA_x6K02T2NKPP-733777-732813, MOR285-5, Olfr321-ps1
MMRRC Submission 041068-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.230) question?
Stock # R4255 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 58574701-58575621 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 58574791 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 31 (I31F)
Ref Sequence ENSEMBL: ENSMUSP00000150051 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000204718] [ENSMUST00000214662]
AlphaFold Q7TRZ4
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122047
Predicted Effect probably damaging
Transcript: ENSMUST00000190555
AA Change: I31F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140968
Gene: ENSMUSG00000100688
AA Change: I31F

DomainStartEndE-ValueType
Pfam:7tm_1 41 290 1.7e-28 PFAM
Pfam:7tm_4 139 283 4.1e-40 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000204718
AA Change: I31F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000145531
Gene: ENSMUSG00000107711
AA Change: I31F

DomainStartEndE-ValueType
Pfam:7tm_4 31 306 8.4e-45 PFAM
Pfam:7tm_1 41 290 1.1e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214662
AA Change: I31F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.1925 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 93% (50/54)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T C 2: 69,136,949 (GRCm39) I171V probably benign Het
Actc1 T C 2: 113,879,697 (GRCm39) N254S probably benign Het
Adgrg1 T G 8: 95,732,530 (GRCm39) probably null Het
Ankrd7 T A 6: 18,869,880 (GRCm39) probably null Het
Baz2b T C 2: 59,750,916 (GRCm39) probably benign Het
Brca2 A G 5: 150,464,634 (GRCm39) E1466G possibly damaging Het
Dagla G A 19: 10,234,316 (GRCm39) R332* probably null Het
Dnah5 T A 15: 28,438,248 (GRCm39) S3960T probably benign Het
Dnhd1 T A 7: 105,362,205 (GRCm39) L3689M probably damaging Het
Epn1 T A 7: 5,100,637 (GRCm39) L530Q probably damaging Het
Fgf17 C A 14: 70,879,162 (GRCm39) probably null Het
Fgfr4 G A 13: 55,314,064 (GRCm39) V593M probably damaging Het
Fmo4 A G 1: 162,621,895 (GRCm39) C439R probably benign Het
Fndc3b T C 3: 27,555,556 (GRCm39) K333E possibly damaging Het
Gpc6 A G 14: 118,188,553 (GRCm39) T396A probably benign Het
Igkv3-2 T A 6: 70,676,045 (GRCm39) V118D probably benign Het
Mtbp C A 15: 55,484,081 (GRCm39) S470R possibly damaging Het
Myh8 A G 11: 67,190,560 (GRCm39) D1295G probably benign Het
Myo1h T C 5: 114,468,198 (GRCm39) I331T possibly damaging Het
Myo7a T G 7: 97,721,171 (GRCm39) M1265L probably damaging Het
Or13a18 C A 7: 140,190,500 (GRCm39) Y132* probably null Het
Or2o1 G A 11: 49,051,262 (GRCm39) W140* probably null Het
Pak1ip1 A G 13: 41,164,632 (GRCm39) probably benign Het
Pcdha11 A G 18: 37,145,843 (GRCm39) T645A probably benign Het
Peg12 A G 7: 62,113,479 (GRCm39) I206T possibly damaging Het
Pkhd1 A G 1: 20,664,158 (GRCm39) V140A probably damaging Het
Pramel29 T A 4: 143,934,054 (GRCm39) D351V possibly damaging Het
Prrc2c C A 1: 162,533,895 (GRCm39) probably benign Het
Ptprk A G 10: 28,082,241 (GRCm39) E70G probably benign Het
Rabl6 C T 2: 25,474,791 (GRCm39) E640K possibly damaging Het
Rasd2 G A 8: 75,948,538 (GRCm39) E155K probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sdf4 A G 4: 156,085,214 (GRCm39) H183R probably benign Het
Slc12a9 C T 5: 137,319,694 (GRCm39) R607H probably damaging Het
Slc38a1 T C 15: 96,483,431 (GRCm39) D299G probably benign Het
Slc4a10 A G 2: 62,112,280 (GRCm39) N657S probably benign Het
Spata31d1c C G 13: 65,183,502 (GRCm39) S348* probably null Het
Spata31d1c T C 13: 65,183,531 (GRCm39) F358L probably benign Het
Srbd1 A T 17: 86,410,350 (GRCm39) S527R possibly damaging Het
Stag3 T C 5: 138,289,143 (GRCm39) V243A probably damaging Het
Tefm A T 11: 80,031,075 (GRCm39) S54T probably damaging Het
Terf1 T C 1: 15,875,903 (GRCm39) M1T probably null Het
Thsd7b G A 1: 129,688,024 (GRCm39) S645N possibly damaging Het
Trmt13 G T 3: 116,376,337 (GRCm39) S285* probably null Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ush2a C T 1: 188,492,040 (GRCm39) R3110* probably null Het
Vnn3 T C 10: 23,741,720 (GRCm39) Y342H probably benign Het
Other mutations in Or2ak7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01778:Or2ak7 APN 11 58,575,095 (GRCm39) missense probably damaging 1.00
IGL02293:Or2ak7 APN 11 58,574,996 (GRCm39) missense probably benign 0.01
IGL03001:Or2ak7 APN 11 58,574,702 (GRCm39) start codon destroyed probably null 1.00
IGL03039:Or2ak7 APN 11 58,574,837 (GRCm39) missense probably damaging 0.98
R0064:Or2ak7 UTSW 11 58,575,301 (GRCm39) missense probably benign 0.00
R1506:Or2ak7 UTSW 11 58,575,014 (GRCm39) missense probably benign 0.13
R4345:Or2ak7 UTSW 11 58,574,771 (GRCm39) missense possibly damaging 0.63
R4646:Or2ak7 UTSW 11 58,575,556 (GRCm39) missense probably damaging 0.99
R4951:Or2ak7 UTSW 11 58,575,589 (GRCm39) missense probably damaging 0.98
R5591:Or2ak7 UTSW 11 58,574,951 (GRCm39) missense probably benign 0.36
R6244:Or2ak7 UTSW 11 58,574,830 (GRCm39) missense possibly damaging 0.53
R6325:Or2ak7 UTSW 11 58,575,354 (GRCm39) nonsense probably null
R7894:Or2ak7 UTSW 11 58,575,500 (GRCm39) missense possibly damaging 0.94
R8852:Or2ak7 UTSW 11 58,574,966 (GRCm39) missense probably benign 0.01
R8860:Or2ak7 UTSW 11 58,574,966 (GRCm39) missense probably benign 0.01
R9076:Or2ak7 UTSW 11 58,574,722 (GRCm39) missense probably benign 0.05
Z1186:Or2ak7 UTSW 11 58,575,083 (GRCm39) missense probably benign
Z1186:Or2ak7 UTSW 11 58,574,815 (GRCm39) missense probably benign
Z1186:Or2ak7 UTSW 11 58,574,758 (GRCm39) missense probably benign
Z1186:Or2ak7 UTSW 11 58,575,289 (GRCm39) missense probably benign 0.00
Z1187:Or2ak7 UTSW 11 58,574,815 (GRCm39) missense probably benign
Z1187:Or2ak7 UTSW 11 58,574,758 (GRCm39) missense probably benign
Z1187:Or2ak7 UTSW 11 58,575,548 (GRCm39) missense probably benign
Z1187:Or2ak7 UTSW 11 58,575,289 (GRCm39) missense probably benign 0.00
Z1187:Or2ak7 UTSW 11 58,575,083 (GRCm39) missense probably benign
Z1187:Or2ak7 UTSW 11 58,574,941 (GRCm39) missense probably benign
Z1188:Or2ak7 UTSW 11 58,574,815 (GRCm39) missense probably benign
Z1188:Or2ak7 UTSW 11 58,574,941 (GRCm39) missense probably benign
Z1188:Or2ak7 UTSW 11 58,575,083 (GRCm39) missense probably benign
Z1188:Or2ak7 UTSW 11 58,575,289 (GRCm39) missense probably benign 0.00
Z1188:Or2ak7 UTSW 11 58,575,541 (GRCm39) missense probably benign
Z1188:Or2ak7 UTSW 11 58,575,548 (GRCm39) missense probably benign
Z1188:Or2ak7 UTSW 11 58,574,758 (GRCm39) missense probably benign
Z1189:Or2ak7 UTSW 11 58,575,289 (GRCm39) missense probably benign 0.00
Z1189:Or2ak7 UTSW 11 58,575,083 (GRCm39) missense probably benign
Z1189:Or2ak7 UTSW 11 58,574,758 (GRCm39) missense probably benign
Z1190:Or2ak7 UTSW 11 58,574,758 (GRCm39) missense probably benign
Z1190:Or2ak7 UTSW 11 58,575,548 (GRCm39) missense probably benign
Z1190:Or2ak7 UTSW 11 58,575,541 (GRCm39) missense probably benign
Z1190:Or2ak7 UTSW 11 58,575,289 (GRCm39) missense probably benign 0.00
Z1190:Or2ak7 UTSW 11 58,575,083 (GRCm39) missense probably benign
Z1190:Or2ak7 UTSW 11 58,574,941 (GRCm39) missense probably benign
Z1190:Or2ak7 UTSW 11 58,574,815 (GRCm39) missense probably benign
Z1191:Or2ak7 UTSW 11 58,574,758 (GRCm39) missense probably benign
Z1191:Or2ak7 UTSW 11 58,575,548 (GRCm39) missense probably benign
Z1191:Or2ak7 UTSW 11 58,575,541 (GRCm39) missense probably benign
Z1191:Or2ak7 UTSW 11 58,575,289 (GRCm39) missense probably benign 0.00
Z1191:Or2ak7 UTSW 11 58,575,083 (GRCm39) missense probably benign
Z1191:Or2ak7 UTSW 11 58,574,941 (GRCm39) missense probably benign
Z1191:Or2ak7 UTSW 11 58,574,815 (GRCm39) missense probably benign
Z1192:Or2ak7 UTSW 11 58,575,083 (GRCm39) missense probably benign
Z1192:Or2ak7 UTSW 11 58,574,815 (GRCm39) missense probably benign
Z1192:Or2ak7 UTSW 11 58,574,758 (GRCm39) missense probably benign
Z1192:Or2ak7 UTSW 11 58,575,289 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GAGTGCCCTAGAGCTATTCAG -3'
(R):5'- AAATGGCCTTGGTGTCTGAG -3'

Sequencing Primer
(F):5'- TGCCCTAGAGCTATTCAGGGAAAC -3'
(R):5'- TCTGAGAGGAAGTTAGCTGCC -3'
Posted On 2015-06-20