Incidental Mutation 'R1613:Or1ad1'
ID 176948
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 039650-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R1613 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 50875530-50876453 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 50876045 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 172 (N172K)
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: N172K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074672
Gene: ENSMUSG00000061952
AA Change: N172K

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: N172K
SMART Domains Protein: ENSMUSP00000144855
Gene: ENSMUSG00000061952
AA Change: N172K

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: N172K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216101
AA Change: N172K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.2446 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.5%
Validation Efficiency 82% (69/84)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrp G T 8: 106,293,467 (GRCm39) T106K probably damaging Het
Aldh3a1 A T 11: 61,105,377 (GRCm39) D161V probably damaging Het
Aloxe3 A G 11: 69,020,872 (GRCm39) D199G possibly damaging Het
Amfr T A 8: 94,725,854 (GRCm39) M176L probably benign Het
Amigo1 A T 3: 108,095,536 (GRCm39) E345V probably benign Het
Atp13a3 T C 16: 30,151,118 (GRCm39) Y1064C probably damaging Het
Brd7 A T 8: 89,073,578 (GRCm39) C271S probably benign Het
Bub1b T A 2: 118,470,222 (GRCm39) probably null Het
Ccdc146 T A 5: 21,499,522 (GRCm39) I887F probably damaging Het
Ceacam14 T C 7: 17,547,973 (GRCm39) probably benign Het
Cntn1 T A 15: 92,143,871 (GRCm39) V278E possibly damaging Het
Col6a6 A C 9: 105,609,410 (GRCm39) probably null Het
Cspp1 C T 1: 10,203,466 (GRCm39) R1016C probably damaging Het
Cyp2c39 A G 19: 39,527,455 (GRCm39) Y267C probably damaging Het
Cyp2c67 C T 19: 39,614,643 (GRCm39) V295I probably benign Het
Cyp2d40 T C 15: 82,645,640 (GRCm39) T122A unknown Het
Dennd10 T A 19: 60,810,763 (GRCm39) V171D possibly damaging Het
Dmxl2 A G 9: 54,289,311 (GRCm39) I2541T probably benign Het
Eif3e G A 15: 43,113,620 (GRCm39) A438V possibly damaging Het
Fam178b C A 1: 36,639,273 (GRCm39) W342L probably benign Het
Fam78a G T 2: 31,959,581 (GRCm39) N176K probably damaging Het
Ghrhr A T 6: 55,356,682 (GRCm39) K93M probably damaging Het
Gm1527 T A 3: 28,953,002 (GRCm39) probably null Het
Gm1553 G A 10: 82,328,430 (GRCm39) probably benign Het
Gm5885 G A 6: 133,508,205 (GRCm39) noncoding transcript Het
Gm8674 G A 13: 50,056,474 (GRCm39) noncoding transcript Het
Hoxc6 C T 15: 102,918,017 (GRCm39) probably benign Het
Ino80 T C 2: 119,223,348 (GRCm39) T1189A probably damaging Het
Iqgap1 T C 7: 80,418,205 (GRCm39) E55G probably damaging Het
Kcnh2 G A 5: 24,527,760 (GRCm39) probably benign Het
Lama1 G A 17: 68,114,918 (GRCm39) G2356S probably benign Het
Mdfic T A 6: 15,799,589 (GRCm39) probably null Het
Me3 T C 7: 89,435,628 (GRCm39) probably benign Het
Mmadhc T C 2: 50,170,338 (GRCm39) D258G probably damaging Het
Nfe2 T C 15: 103,157,556 (GRCm39) D145G probably damaging Het
Nkapd1 T C 9: 50,519,105 (GRCm39) K169R probably damaging Het
Or10j3b C T 1: 173,043,434 (GRCm39) T72I probably benign Het
Or1j20 A C 2: 36,760,405 (GRCm39) I276L possibly damaging Het
Or2y1e A G 11: 49,218,520 (GRCm39) Y94C probably damaging Het
Or4a67 T C 2: 88,598,149 (GRCm39) N170S probably damaging Het
Or4k1 A C 14: 50,377,751 (GRCm39) L115R probably damaging Het
Or5al5 A T 2: 85,961,407 (GRCm39) L200Q probably damaging Het
P4ha3 A T 7: 99,962,457 (GRCm39) D405V possibly damaging Het
Palmd T C 3: 116,717,153 (GRCm39) D448G probably damaging Het
Pclo T C 5: 14,729,146 (GRCm39) probably benign Het
Pcsk6 A G 7: 65,560,059 (GRCm39) probably benign Het
Pidd1 T C 7: 141,020,690 (GRCm39) E469G probably damaging Het
Ptpn13 A G 5: 103,684,737 (GRCm39) D875G possibly damaging Het
Rasgrf2 A G 13: 92,050,740 (GRCm39) L886P probably damaging Het
Scrib G A 15: 75,920,391 (GRCm39) R1454C probably damaging Het
Slc24a1 A G 9: 64,855,978 (GRCm39) S310P unknown Het
Slc44a5 A G 3: 153,963,351 (GRCm39) probably null Het
Snx4 T G 16: 33,106,416 (GRCm39) M283R probably damaging Het
Snx7 A T 3: 117,623,222 (GRCm39) probably benign Het
Stk19 A T 17: 35,043,574 (GRCm39) L212H probably damaging Het
Sult2a4 T C 7: 13,723,420 (GRCm39) K32E probably damaging Het
Tfrc T A 16: 32,442,193 (GRCm39) Y473N probably damaging Het
Tlr2 C G 3: 83,744,660 (GRCm39) L474F probably damaging Het
Tnfrsf4 T A 4: 156,100,619 (GRCm39) F213I probably benign Het
Trim9 A T 12: 70,295,169 (GRCm39) I651N probably damaging Het
Vmn1r84 T A 7: 12,096,460 (GRCm39) I78L possibly damaging Het
Vmn2r77 T C 7: 86,460,356 (GRCm39) Y561H probably damaging Het
Vmn2r95 A G 17: 18,660,901 (GRCm39) probably benign Het
Zfp11 T C 5: 129,735,431 (GRCm39) N10S probably benign Het
Zfp81 A T 17: 33,553,757 (GRCm39) H352Q probably damaging Het
Zscan5b T A 7: 6,233,374 (GRCm39) L66Q probably damaging 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
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
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'- TCCTGAGTGTGATGGCCTATGACC -3'
(R):5'- AAGATGACAGTAGCCACCGTGTCC -3'

Sequencing Primer
(F):5'- GATGGCCTATGACCGCTATG -3'
(R):5'- ACATGTAGACAGGGCTTTCC -3'
Posted On 2014-04-24