Incidental Mutation 'R2224:Or1ad1'
ID 241559
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 040225-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R2224 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 50875530-50876453 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 50876059 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 177 (F177S)
Ref Sequence ENSEMBL: ENSMUSP00000151087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075177] [ENSMUST00000213291] [ENSMUST00000216101]
AlphaFold Q8VGH1
Predicted Effect probably damaging
Transcript: ENSMUST00000075177
AA Change: F177S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000074672
Gene: ENSMUSG00000061952
AA Change: F177S

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 2e-51 PFAM
Pfam:7tm_1 41 289 1.4e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204581
AA Change: F177S
SMART Domains Protein: ENSMUSP00000144855
Gene: ENSMUSG00000061952
AA Change: F177S

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 damaging
Transcript: ENSMUST00000213291
AA Change: F177S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000216101
AA Change: F177S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 T G 16: 14,289,932 (GRCm39) L1416R probably damaging Het
Aen C A 7: 78,552,199 (GRCm39) T15K probably benign Het
Ahnak G A 19: 8,990,355 (GRCm39) probably benign Het
Ar T A X: 97,194,937 (GRCm39) M517K probably benign Het
Arsb T A 13: 93,930,679 (GRCm39) F216I probably damaging Het
Atg9b A G 5: 24,591,393 (GRCm39) V735A possibly damaging Het
Brinp3 C T 1: 146,777,658 (GRCm39) Q702* probably null Het
Btbd9 C A 17: 30,746,320 (GRCm39) A169S probably damaging Het
Cacna1h T C 17: 25,604,917 (GRCm39) N1132S probably benign Het
Ccdc33 A G 9: 57,989,305 (GRCm39) S123P probably damaging Het
Cep250 A C 2: 155,833,737 (GRCm39) E1886D possibly damaging Het
Chd9 A C 8: 91,737,913 (GRCm39) H1515P probably benign Het
Cyp2c68 A G 19: 39,724,026 (GRCm39) C213R probably benign Het
Ddx41 G A 13: 55,679,214 (GRCm39) T544I probably damaging Het
Dgkk T A X: 6,741,487 (GRCm39) D102E probably damaging Het
Eea1 T A 10: 95,855,874 (GRCm39) V637D probably damaging Het
Emcn T C 3: 137,109,778 (GRCm39) I140T possibly damaging Het
Exo1 A G 1: 175,714,254 (GRCm39) probably null Het
Fbxo21 T G 5: 118,146,188 (GRCm39) Y597D probably damaging Het
Fbxw20 G C 9: 109,062,650 (GRCm39) Q59E possibly damaging Het
Fpr3 T A 17: 18,191,455 (GRCm39) V242D probably damaging Het
Fyb1 A G 15: 6,681,864 (GRCm39) Y737C probably damaging Het
Gm17661 GG GGG 2: 90,748,052 (GRCm39) noncoding transcript Het
Hdac9 C T 12: 34,457,801 (GRCm39) V251I probably benign Het
Hoxa10 T C 6: 52,209,616 (GRCm39) E52G probably damaging Het
Il17f A G 1: 20,849,599 (GRCm39) V55A probably damaging Het
Inpp1 T A 1: 52,829,290 (GRCm39) E243V probably benign Het
Leap2 A G 11: 53,313,634 (GRCm39) L46P probably damaging Het
Map4k3 A T 17: 80,937,883 (GRCm39) D339E probably benign Het
Met A G 6: 17,563,721 (GRCm39) probably null Het
Mgam G T 6: 40,741,208 (GRCm39) probably null Het
Mrgpra1 A G 7: 46,984,854 (GRCm39) V275A possibly damaging Het
Mrgprx2 T A 7: 48,132,608 (GRCm39) Q70L probably benign Het
Mtus1 C T 8: 41,535,812 (GRCm39) V635M probably damaging Het
Mup18 G T 4: 61,590,128 (GRCm39) F133L possibly damaging Het
Naalad2 A T 9: 18,287,829 (GRCm39) V267E possibly damaging Het
Nin A T 12: 70,108,004 (GRCm39) I196N probably damaging Het
Nkpd1 A T 7: 19,253,745 (GRCm39) Y37F probably benign Het
Odc1 A G 12: 17,597,336 (GRCm39) I13V probably benign Het
Or4a67 A T 2: 88,597,930 (GRCm39) M243K possibly damaging Het
Or5m12 T A 2: 85,735,099 (GRCm39) I100F probably benign Het
Pard3 A G 8: 128,086,257 (GRCm39) I286V probably damaging Het
Pcx T C 19: 4,668,026 (GRCm39) I516T possibly damaging Het
Ppp1r9a G T 6: 5,154,074 (GRCm39) R1081L probably benign Het
Prpf40b C T 15: 99,201,172 (GRCm39) probably benign Het
Rnmt C T 18: 68,438,854 (GRCm39) probably benign Het
Saxo5 A G 8: 3,529,249 (GRCm39) T245A probably benign Het
Sfxn1 A G 13: 54,239,536 (GRCm39) T20A possibly damaging Het
Sirt2 A G 7: 28,471,637 (GRCm39) probably null Het
Spata31d1a T A 13: 59,851,529 (GRCm39) I200L probably benign Het
Spin2g A T X: 33,656,599 (GRCm39) I171N possibly damaging Het
Tesl2 T A X: 23,825,173 (GRCm39) M1L probably null Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tsbp1 C A 17: 34,667,737 (GRCm39) probably null Het
Uqcrc2 T A 7: 120,240,937 (GRCm39) V73E probably damaging Het
Vmn2r100 A G 17: 19,742,634 (GRCm39) K336R probably benign Het
Vmn2r108 A T 17: 20,701,295 (GRCm39) Y68* probably null Het
Zbtb4 C T 11: 69,667,184 (GRCm39) T163I 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
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
R6054:Or1ad1 UTSW 11 50,875,631 (GRCm39) missense probably benign 0.00
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'- TCAACATGGATGGCTTCCTCC -3'
(R):5'- ACATGTAGACAGGGCTTTCC -3'

Sequencing Primer
(F):5'- CCTGAGTGTGATGGCCTATGACC -3'
(R):5'- ACATGTAGACAGGGCTTTCCTTATC -3'
Posted On 2014-10-15