Incidental Mutation 'R5572:Or2ak5'
ID 435743
Institutional Source Beutler Lab
Gene Symbol Or2ak5
Ensembl Gene ENSMUSG00000108265
Gene Name olfactory receptor family 2 subfamily AK member 5
Synonyms Olfr318, MOR285-1, GA_x6K02T2NKPP-692816-693736
MMRRC Submission 043266-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # R5572 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 58610895-58611920 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58611055 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 273 (V273A)
Ref Sequence ENSEMBL: ENSMUSP00000149053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000189911] [ENSMUST00000214728]
AlphaFold Q5NCD7
Predicted Effect probably benign
Transcript: ENSMUST00000074309
AA Change: V273A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000073919
Gene: ENSMUSG00000058222
AA Change: V273A

DomainStartEndE-ValueType
Pfam:7tm_4 31 304 5.2e-47 PFAM
Pfam:7tm_1 41 290 6.6e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000189911
AA Change: V273A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000139574
Gene: ENSMUSG00000108265
AA Change: V273A

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 35 220 6.2e-7 PFAM
Pfam:7tm_1 41 290 7.3e-30 PFAM
Pfam:7tm_4 139 283 3.2e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213944
Predicted Effect probably benign
Transcript: ENSMUST00000214728
AA Change: V273A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.2%
Validation Efficiency 100% (64/64)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a C T 5: 8,765,108 (GRCm39) probably null Het
Abcd4 T C 12: 84,653,050 (GRCm39) D380G probably benign Het
Actr3b T A 5: 26,014,886 (GRCm39) D68E probably benign Het
Apol10a T C 15: 77,372,834 (GRCm39) S157P probably damaging Het
Arap3 A T 18: 38,124,119 (GRCm39) I327N probably damaging Het
Arnt G T 3: 95,382,015 (GRCm39) V198L possibly damaging Het
Baiap3 T A 17: 25,470,449 (GRCm39) D86V possibly damaging Het
Bcl9l G T 9: 44,412,095 (GRCm39) R27L possibly damaging Het
Bltp2 A T 11: 78,155,393 (GRCm39) D167V probably damaging Het
C1qc T C 4: 136,619,773 (GRCm39) Y34C probably benign Het
C1rb T C 6: 124,557,758 (GRCm39) S632P probably benign Het
C3 A G 17: 57,531,673 (GRCm39) S284P probably damaging Het
Cfap44 T G 16: 44,301,668 (GRCm39) V1802G possibly damaging Het
Cfhr1 A G 1: 139,484,165 (GRCm39) V117A possibly damaging Het
Clca3b T C 3: 144,533,070 (GRCm39) D654G probably damaging Het
Col17a1 A T 19: 47,639,168 (GRCm39) S1126T probably benign Het
Cts3 T A 13: 61,712,782 (GRCm39) I313F probably damaging Het
Egfl7 T C 2: 26,481,703 (GRCm39) V6A possibly damaging Het
Eif2s3y G A Y: 1,016,631 (GRCm39) D272N probably damaging Het
Foxp4 A G 17: 48,191,804 (GRCm39) V111A unknown Het
Hmcn2 A T 2: 31,304,537 (GRCm39) probably null Het
Hmcn2 G A 2: 31,304,538 (GRCm39) probably null Het
Igsf11 C T 16: 38,845,294 (GRCm39) R283C probably damaging Het
Il1a A G 2: 129,149,838 (GRCm39) Y21H possibly damaging Het
Il6ra A T 3: 89,778,589 (GRCm39) V420D probably damaging Het
Kdm5a T C 6: 120,389,336 (GRCm39) V921A possibly damaging Het
Kirrel3 G A 9: 34,912,244 (GRCm39) A196T probably damaging Het
Klra1 T A 6: 130,349,802 (GRCm39) D212V possibly damaging Het
N4bp2l2 G A 5: 150,585,755 (GRCm39) T75I probably benign Het
Niban1 T C 1: 151,584,941 (GRCm39) S513P probably benign Het
Nnmt A G 9: 48,503,447 (GRCm39) L193P probably damaging Het
Npdc1 G A 2: 25,298,957 (GRCm39) D284N probably damaging Het
Ntm A G 9: 28,925,512 (GRCm39) I191T probably damaging Het
Or52d13 A C 7: 103,109,905 (GRCm39) L170R probably benign Het
Or52h7 A T 7: 104,214,201 (GRCm39) T258S probably benign Het
Pam A C 1: 97,782,469 (GRCm39) probably benign Het
Pomk T A 8: 26,473,218 (GRCm39) H245L possibly damaging Het
Rapgef4 G A 2: 71,864,464 (GRCm39) probably null Het
Rasip1 G T 7: 45,286,153 (GRCm39) R792L probably benign Het
Ret T C 6: 118,132,392 (GRCm39) Y1016C probably damaging Het
Rhbdd1 A T 1: 82,318,531 (GRCm39) N138I possibly damaging Het
Snx13 T G 12: 35,153,119 (GRCm39) V383G probably damaging Het
Syt3 A G 7: 44,040,142 (GRCm39) H125R probably benign Het
Tlr6 A T 5: 65,112,361 (GRCm39) L182Q probably damaging Het
Tlr9 T C 9: 106,102,836 (GRCm39) V709A possibly damaging Het
Tmprss6 T C 15: 78,326,622 (GRCm39) Y655C probably damaging Het
Ttn A T 2: 76,683,972 (GRCm39) probably benign Het
Ube3a T C 7: 58,938,525 (GRCm39) I761T probably damaging Het
Ube3b G A 5: 114,544,240 (GRCm39) D546N probably damaging Het
Ugt2b36 A G 5: 87,237,341 (GRCm39) V188A possibly damaging Het
Usp29 A G 7: 6,965,191 (GRCm39) I345V probably benign Het
Vmn2r78 A G 7: 86,564,720 (GRCm39) K55R probably benign Het
Wdsub1 A G 2: 59,693,051 (GRCm39) F288L possibly damaging Het
Zan C T 5: 137,392,693 (GRCm39) V4601M unknown Het
Zbtb8b T C 4: 129,322,334 (GRCm39) K376E probably damaging Het
Zfp619 A T 7: 39,184,663 (GRCm39) Y231F probably benign Het
Other mutations in Or2ak5
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4548:Or2ak5 UTSW 11 58,611,197 (GRCm39) missense probably benign
R0626:Or2ak5 UTSW 11 58,611,347 (GRCm39) missense probably benign 0.22
R1560:Or2ak5 UTSW 11 58,611,513 (GRCm39) nonsense probably null
R1822:Or2ak5 UTSW 11 58,611,133 (GRCm39) missense probably damaging 1.00
R2334:Or2ak5 UTSW 11 58,611,288 (GRCm39) nonsense probably null
R3429:Or2ak5 UTSW 11 58,611,097 (GRCm39) missense probably damaging 1.00
R4880:Or2ak5 UTSW 11 58,611,107 (GRCm39) missense probably benign 0.31
R5024:Or2ak5 UTSW 11 58,611,776 (GRCm39) missense probably benign 0.00
R5429:Or2ak5 UTSW 11 58,611,350 (GRCm39) missense probably damaging 1.00
R5653:Or2ak5 UTSW 11 58,611,077 (GRCm39) missense probably damaging 1.00
R5655:Or2ak5 UTSW 11 58,611,077 (GRCm39) missense probably damaging 1.00
R6003:Or2ak5 UTSW 11 58,611,196 (GRCm39) missense probably benign 0.20
R6130:Or2ak5 UTSW 11 58,611,133 (GRCm39) missense probably damaging 1.00
R7071:Or2ak5 UTSW 11 58,610,984 (GRCm39) missense possibly damaging 0.59
R8850:Or2ak5 UTSW 11 58,611,572 (GRCm39) missense probably benign 0.02
Z1186:Or2ak5 UTSW 11 58,611,922 (GRCm39) start gained probably benign
Z1187:Or2ak5 UTSW 11 58,611,922 (GRCm39) start gained probably benign
Z1188:Or2ak5 UTSW 11 58,611,922 (GRCm39) start gained probably benign
Z1189:Or2ak5 UTSW 11 58,611,922 (GRCm39) start gained probably benign
Z1190:Or2ak5 UTSW 11 58,611,922 (GRCm39) start gained probably benign
Z1191:Or2ak5 UTSW 11 58,611,922 (GRCm39) start gained probably benign
Z1192:Or2ak5 UTSW 11 58,611,922 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- GATCCTGAAACTGTCCAAGGC -3'
(R):5'- CTCGTGAGTGGACTTGTCATTC -3'

Sequencing Primer
(F):5'- GAAACTGTCCAAGGCAGCGTTC -3'
(R):5'- AGTGGACTTGTCATTCTGCTGC -3'
Posted On 2016-10-24