Incidental Mutation 'R6054:Or1ad1'
ID 484318
Institutional Source Beutler Lab
Gene Symbol Or1ad1
Ensembl Gene ENSMUSG00000061952
Gene Name olfactory receptor family 1 subfamily AD member 1
Synonyms Olfr1377, MOR129-1, GA_x6K02T2QP88-4453480-4452557
MMRRC Submission 044222-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R6054 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 50875530-50876453 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 50875631 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 34 (M34I)
Ref Sequence ENSEMBL: ENSMUSP00000151087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075177] [ENSMUST00000213291] [ENSMUST00000216101]
AlphaFold Q8VGH1
Predicted Effect probably benign
Transcript: ENSMUST00000075177
AA Change: M34I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000074672
Gene: ENSMUSG00000061952
AA Change: M34I

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 2e-51 PFAM
Pfam:7tm_1 41 289 1.4e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118780
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204581
AA Change: M34I
SMART Domains Protein: ENSMUSP00000144855
Gene: ENSMUSG00000061952
AA Change: M34I

DomainStartEndE-ValueType
Pfam:7tm_4 31 237 5.9e-36 PFAM
Pfam:7TM_GPCR_Srsx 35 227 1.9e-4 PFAM
Pfam:7tm_1 41 235 1.3e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213291
AA Change: M34I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000216101
AA Change: M34I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.2%
  • 20x: 94.8%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T C 16: 4,653,729 (GRCm39) S93P unknown Het
Adam28 T A 14: 68,879,601 (GRCm39) N149I probably benign Het
Adam4 A C 12: 81,466,828 (GRCm39) F598V probably damaging Het
Adh5 A G 3: 138,151,136 (GRCm39) H33R possibly damaging Het
Apoh A G 11: 108,286,801 (GRCm39) N75S probably damaging Het
Arrdc5 T C 17: 56,601,420 (GRCm39) E235G possibly damaging Het
Atm T C 9: 53,371,173 (GRCm39) D2225G probably damaging Het
Atp6v0a1 C T 11: 100,930,715 (GRCm39) P514L possibly damaging Het
Brd9 T A 13: 74,088,860 (GRCm39) M195K probably damaging Het
Cacna1a T G 8: 85,283,414 (GRCm39) S755A probably damaging Het
Ccdc85c T A 12: 108,241,028 (GRCm39) H122L unknown Het
Ccs A T 19: 4,875,893 (GRCm39) D192E probably benign Het
Cd3e G A 9: 44,913,459 (GRCm39) T92M possibly damaging Het
Celsr2 A G 3: 108,314,279 (GRCm39) F1249L possibly damaging Het
Col16a1 G A 4: 129,955,515 (GRCm39) probably benign Het
Col17a1 A G 19: 47,668,859 (GRCm39) Y122H probably damaging Het
Col28a1 G A 6: 8,083,748 (GRCm39) P570S possibly damaging Het
Dchs2 A T 3: 83,253,543 (GRCm39) I2318L probably benign Het
Dhx35 T A 2: 158,660,219 (GRCm39) Y184N probably benign Het
Dmxl1 T G 18: 49,990,453 (GRCm39) N297K probably benign Het
Dsp G A 13: 38,351,585 (GRCm39) G135S probably benign Het
Efhb C T 17: 53,706,027 (GRCm39) V837I possibly damaging Het
Efs C T 14: 55,158,614 (GRCm39) D15N probably damaging Het
Fbxl19 C T 7: 127,351,681 (GRCm39) T314I probably damaging Het
Gm11595 A T 11: 99,663,474 (GRCm39) C69S unknown Het
Grxcr2 A G 18: 42,119,743 (GRCm39) V199A probably benign Het
Hadha T C 5: 30,328,682 (GRCm39) E468G probably benign Het
Hax1 GTCATCATCATCATCATC GTCATCATCATCATCATCATC 3: 89,905,247 (GRCm39) probably benign Het
Hps1 A T 19: 42,759,217 (GRCm39) V125E probably damaging Het
Hrg A T 16: 22,772,412 (GRCm39) T74S probably benign Het
Idh3a T C 9: 54,493,829 (GRCm39) probably null Het
Leng8 C A 7: 4,148,522 (GRCm39) probably null Het
Maml2 TCAGCAGCAGCAGCAGCAGC TCAGCAGCAGCAGCAGC 9: 13,532,695 (GRCm39) probably benign Het
Mctp2 T C 7: 71,908,851 (GRCm39) H154R probably benign Het
Megf6 A G 4: 154,347,636 (GRCm39) E777G probably benign Het
Miip A G 4: 147,950,135 (GRCm39) S154P probably benign Het
Mprip T C 11: 59,649,251 (GRCm39) V985A probably benign Het
Nmrk2 G A 10: 81,035,468 (GRCm39) R158W probably damaging Het
Nsd2 T C 5: 34,039,505 (GRCm39) S180P probably damaging Het
Oga A G 19: 45,764,571 (GRCm39) S190P probably damaging Het
Opa1 T G 16: 29,433,952 (GRCm39) S596A probably damaging Het
Or51b4 A G 7: 103,531,033 (GRCm39) V139A probably damaging Het
Pcdha2 A G 18: 37,073,857 (GRCm39) E496G probably damaging Het
Pcdhb5 T G 18: 37,454,133 (GRCm39) V171G probably damaging Het
Pramel6 A G 2: 87,339,003 (GRCm39) T68A probably benign Het
Ptprq T C 10: 107,418,219 (GRCm39) Y1719C probably damaging Het
Pzp T C 6: 128,490,727 (GRCm39) N412S probably benign Het
Rb1cc1 G T 1: 6,320,058 (GRCm39) R1159L probably benign Het
Rev3l T A 10: 39,700,146 (GRCm39) S1548T probably benign Het
Rora A G 9: 69,286,084 (GRCm39) I471M probably benign Het
Scube1 C A 15: 83,535,877 (GRCm39) V266L probably benign Het
Sema6a C T 18: 47,416,470 (GRCm39) D386N possibly damaging Het
Siglecf T A 7: 43,004,430 (GRCm39) L253Q probably damaging Het
Spata31d1b A G 13: 59,863,464 (GRCm39) H204R probably benign Het
Syt17 T C 7: 118,007,356 (GRCm39) T313A possibly damaging Het
Tbc1d32 T C 10: 56,038,304 (GRCm39) T578A possibly damaging Het
Trpm1 A G 7: 63,918,450 (GRCm39) S597G probably benign Het
Vmn2r9 T A 5: 108,996,126 (GRCm39) H174L probably damaging Het
Vrk2 A T 11: 26,436,975 (GRCm39) S281T probably benign Het
Wdr48 A G 9: 119,736,843 (GRCm39) D22G probably damaging Het
Zfp408 C A 2: 91,479,636 (GRCm39) V61L probably benign Het
Zfp652 G A 11: 95,640,689 (GRCm39) A205T probably benign Het
Other mutations in Or1ad1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01069:Or1ad1 APN 11 50,875,830 (GRCm39) missense possibly damaging 0.94
R1386:Or1ad1 UTSW 11 50,876,194 (GRCm39) missense probably damaging 0.97
R1486:Or1ad1 UTSW 11 50,875,608 (GRCm39) missense probably benign 0.00
R1613:Or1ad1 UTSW 11 50,876,045 (GRCm39) missense probably damaging 1.00
R2224:Or1ad1 UTSW 11 50,876,059 (GRCm39) missense probably damaging 1.00
R2411:Or1ad1 UTSW 11 50,875,758 (GRCm39) missense probably damaging 0.98
R3014:Or1ad1 UTSW 11 50,875,534 (GRCm39) missense probably benign 0.00
R4080:Or1ad1 UTSW 11 50,875,683 (GRCm39) missense probably damaging 1.00
R4753:Or1ad1 UTSW 11 50,875,978 (GRCm39) missense probably benign 0.05
R4764:Or1ad1 UTSW 11 50,875,602 (GRCm39) missense probably benign 0.00
R4822:Or1ad1 UTSW 11 50,875,910 (GRCm39) nonsense probably null
R4865:Or1ad1 UTSW 11 50,876,370 (GRCm39) missense probably damaging 0.99
R5053:Or1ad1 UTSW 11 50,876,137 (GRCm39) missense probably damaging 1.00
R6368:Or1ad1 UTSW 11 50,875,613 (GRCm39) missense probably benign 0.00
R7589:Or1ad1 UTSW 11 50,875,857 (GRCm39) missense probably damaging 0.98
R7843:Or1ad1 UTSW 11 50,875,845 (GRCm39) missense probably benign 0.06
R8056:Or1ad1 UTSW 11 50,876,368 (GRCm39) missense probably damaging 0.98
R9189:Or1ad1 UTSW 11 50,876,166 (GRCm39) missense probably damaging 1.00
R9486:Or1ad1 UTSW 11 50,875,691 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- CTACAATATGGGAAGCATGCTTG -3'
(R):5'- ATGGACTTGCTTCCCAACAC -3'

Sequencing Primer
(F):5'- TTCTCCATCAACCAGTAAAGCATTG -3'
(R):5'- TCAACACTGGAGAGGTTG -3'
Posted On 2017-07-14