Incidental Mutation 'R7020:Or5al7'
ID 545554
Institutional Source Beutler Lab
Gene Symbol Or5al7
Ensembl Gene ENSMUSG00000075201
Gene Name olfactory receptor family 5 subfamily AL member 7
Synonyms MOR185-7, GA_x6K02T2Q125-47631900-47630956, Olfr1043
MMRRC Submission 045121-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R7020 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 85992347-85993291 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85992363 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 310 (I310T)
Ref Sequence ENSEMBL: ENSMUSP00000149716 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099907] [ENSMUST00000099908] [ENSMUST00000213886] [ENSMUST00000213949] [ENSMUST00000215624] [ENSMUST00000216028]
AlphaFold Q8VFK4
Predicted Effect probably benign
Transcript: ENSMUST00000099907
AA Change: I310T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000097491
Gene: ENSMUSG00000075201
AA Change: I310T

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 6.9e-46 PFAM
Pfam:7tm_1 41 290 1.5e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099908
SMART Domains Protein: ENSMUSP00000097492
Gene: ENSMUSG00000075202

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1.2e-48 PFAM
Pfam:7tm_1 41 290 1.3e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213886
AA Change: I310T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000213949
AA Change: I310T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000215624
Predicted Effect probably benign
Transcript: ENSMUST00000216028
AA Change: I310T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (52/52)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001K19Rik C T 12: 110,634,975 (GRCm39) G188R probably damaging Het
Abhd3 T C 18: 10,645,127 (GRCm39) Y384C probably damaging Het
Cd209b T A 8: 3,968,783 (GRCm39) E282V probably damaging Het
Cep350 A C 1: 155,804,077 (GRCm39) L1002W probably damaging Het
Clcn1 T C 6: 42,275,754 (GRCm39) V292A probably damaging Het
Clcn7 T C 17: 25,365,325 (GRCm39) I107T possibly damaging Het
Cntrob A G 11: 69,193,918 (GRCm39) probably null Het
Crb1 A T 1: 139,159,341 (GRCm39) S1294T possibly damaging Het
Cst13 T G 2: 148,665,129 (GRCm39) Y41* probably null Het
Gp1ba A G 11: 70,531,139 (GRCm39) probably benign Het
Gucy2e A T 11: 69,123,619 (GRCm39) L427I probably benign Het
Gucy2g A G 19: 55,221,482 (GRCm39) S340P probably damaging Het
Herc1 A G 9: 66,393,360 (GRCm39) T4080A probably benign Het
Iglon5 A T 7: 43,126,319 (GRCm39) C195S probably damaging Het
Itgae A G 11: 73,002,195 (GRCm39) T100A probably damaging Het
Jarid2 C T 13: 45,038,300 (GRCm39) S205L probably damaging Het
Macrod2 A T 2: 142,231,795 (GRCm39) *424C probably null Het
Map2k6 A T 11: 110,397,540 (GRCm39) probably benign Het
Muc4 A T 16: 32,570,628 (GRCm39) K563* probably null Het
Myh7b T C 2: 155,473,671 (GRCm39) I1568T possibly damaging Het
Myo15b G A 11: 115,757,493 (GRCm39) W1114* probably null Het
Mypn T C 10: 63,028,289 (GRCm39) Y258C probably damaging Het
Notch1 T C 2: 26,371,586 (GRCm39) T288A possibly damaging Het
Npc1 C T 18: 12,331,594 (GRCm39) G859R probably damaging Het
Olfm2 T A 9: 20,579,864 (GRCm39) R326W probably damaging Het
Or2a7 T C 6: 43,151,096 (GRCm39) Y59H possibly damaging Het
Or5g23 A G 2: 85,438,976 (GRCm39) S93P probably benign Het
Ovol1 G A 19: 5,610,261 (GRCm39) P23L probably damaging Het
Pappa2 C A 1: 158,675,579 (GRCm39) V1056F probably damaging Het
Pik3ca T C 3: 32,490,428 (GRCm39) L25S probably damaging Het
Pla2r1 T C 2: 60,277,743 (GRCm39) H860R possibly damaging Het
Pms1 A T 1: 53,228,541 (GRCm39) H902Q probably damaging Het
Ptgs1 T G 2: 36,141,041 (GRCm39) L496R probably damaging Het
Ralgapa2 A T 2: 146,188,638 (GRCm39) Y1381* probably null Het
Rtl1 T C 12: 109,558,749 (GRCm39) Q1030R possibly damaging Het
Ryr3 T A 2: 112,583,423 (GRCm39) Y2816F probably benign Het
Sh2b2 T C 5: 136,253,153 (GRCm39) T340A possibly damaging Het
Slc30a5 T A 13: 100,961,421 (GRCm39) probably null Het
Spta1 T C 1: 174,036,918 (GRCm39) L1143P probably damaging Het
St8sia5 T C 18: 77,333,876 (GRCm39) I178T probably damaging Het
Tap2 A G 17: 34,433,388 (GRCm39) N517S possibly damaging Het
Tcp11 A G 17: 28,290,679 (GRCm39) Y227H possibly damaging Het
Usp34 A G 11: 23,343,954 (GRCm39) D1411G probably benign Het
Vmn2r105 A G 17: 20,429,336 (GRCm39) L580P probably damaging Het
Wdr19 A G 5: 65,413,657 (GRCm39) E1200G probably damaging Het
Xirp2 T C 2: 67,355,913 (GRCm39) V3558A probably benign Het
Xpo7 T C 14: 70,903,463 (GRCm39) N1082S probably benign Het
Zbtb49 A T 5: 38,370,711 (GRCm39) L390* probably null Het
Zfp639 C A 3: 32,574,261 (GRCm39) D295E probably damaging Het
Other mutations in Or5al7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00925:Or5al7 APN 2 85,993,264 (GRCm39) missense probably benign 0.01
IGL02037:Or5al7 APN 2 85,993,181 (GRCm39) missense probably benign
IGL02174:Or5al7 APN 2 85,992,442 (GRCm39) missense possibly damaging 0.78
IGL02511:Or5al7 APN 2 85,992,363 (GRCm39) missense probably benign 0.00
IGL02578:Or5al7 APN 2 85,993,073 (GRCm39) nonsense probably null
IGL03084:Or5al7 APN 2 85,992,569 (GRCm39) nonsense probably null
R0278:Or5al7 UTSW 2 85,992,923 (GRCm39) nonsense probably null
R0633:Or5al7 UTSW 2 85,992,435 (GRCm39) missense probably damaging 1.00
R0972:Or5al7 UTSW 2 85,992,648 (GRCm39) missense possibly damaging 0.94
R1033:Or5al7 UTSW 2 85,993,194 (GRCm39) missense possibly damaging 0.67
R2116:Or5al7 UTSW 2 85,993,073 (GRCm39) nonsense probably null
R2998:Or5al7 UTSW 2 85,992,364 (GRCm39) missense probably benign
R3951:Or5al7 UTSW 2 85,992,962 (GRCm39) nonsense probably null
R5147:Or5al7 UTSW 2 85,992,378 (GRCm39) missense possibly damaging 0.79
R6193:Or5al7 UTSW 2 85,992,628 (GRCm39) missense possibly damaging 0.94
R7954:Or5al7 UTSW 2 85,993,212 (GRCm39) missense probably damaging 0.99
R8203:Or5al7 UTSW 2 85,992,844 (GRCm39) missense probably benign
R8390:Or5al7 UTSW 2 85,993,266 (GRCm39) missense possibly damaging 0.82
Z1177:Or5al7 UTSW 2 85,992,508 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACACACTCAAGGACTTTGTTTC -3'
(R):5'- CAGAAAGTCTTCTCCACCTGTG -3'

Sequencing Primer
(F):5'- TCAAGGACTTTGTTTCTACTTATCAC -3'
(R):5'- AAAGTCTTCTCCACCTGTGCTTCTC -3'
Posted On 2019-05-13