Incidental Mutation 'R8162:Or1ab2'
ID 633576
Institutional Source Beutler Lab
Gene Symbol Or1ab2
Ensembl Gene ENSMUSG00000046881
Gene Name olfactory receptor family 1 subfamily AB member 2
Synonyms MOR130-1, Olfr374, GA_x6K02T2NUPS-241490-242431
MMRRC Submission 067588-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.109) question?
Stock # R8162 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 72860884-72864353 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 72864253 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 281 (V281G)
Gene Model predicted gene model for transcript(s): [ENSMUST00000209675] [ENSMUST00000210435]
AlphaFold Q7TRY0
Predicted Effect noncoding transcript
Transcript: ENSMUST00000055735
AA Change: V281G
SMART Domains Protein: ENSMUSP00000054673
Gene: ENSMUSG00000046881
AA Change: V281G

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 2.2e-60 PFAM
Pfam:7TM_GPCR_Srsx 35 224 1.3e-6 PFAM
Pfam:7tm_1 41 290 3e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000209675
AA Change: V281G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000210435
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency 98% (47/48)
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
Apol7b T A 15: 77,307,430 (GRCm39) Q355L probably benign Het
Asb14 A T 14: 26,633,945 (GRCm39) Q383H probably benign Het
Ash1l T G 3: 88,977,553 (GRCm39) M2661R probably damaging Het
Cacna1e G T 1: 154,577,313 (GRCm39) probably null Het
Ccdc40 G T 11: 119,150,870 (GRCm39) probably null Het
Cd27 T A 6: 125,210,188 (GRCm39) probably null Het
Ces3b T C 8: 105,817,385 (GRCm39) L371S possibly damaging Het
Clec4a2 T A 6: 123,117,711 (GRCm39) Y210N probably damaging Het
Cpeb2 A T 5: 43,394,681 (GRCm39) H553L Het
Cpne8 T C 15: 90,503,881 (GRCm39) I95V probably benign Het
D630039A03Rik T C 4: 57,910,525 (GRCm39) T96A probably benign Het
Dand5 C A 8: 85,543,147 (GRCm39) G110C probably damaging Het
Erich3 C T 3: 154,470,210 (GRCm39) T1554M unknown Het
Evi5l T C 8: 4,241,300 (GRCm39) S278P probably damaging Het
Farp2 C A 1: 93,548,325 (GRCm39) H1003Q probably damaging Het
G530012D18Rik C G 1: 85,504,935 (GRCm39) D113E unknown Het
Gm13741 A C 2: 87,486,446 (GRCm39) M273R possibly damaging Het
Gm28363 T A 1: 117,626,641 (GRCm39) D26E unknown Het
Gm8674 A T 13: 50,054,407 (GRCm39) D700E noncoding transcript Het
Gtf3c4 G A 2: 28,724,593 (GRCm39) Q380* probably null Het
Idh2 GGTCCCAG GG 7: 79,748,077 (GRCm39) probably benign Het
Il1a A T 2: 129,148,477 (GRCm39) S78T possibly damaging Het
Kdm2b A T 5: 123,072,856 (GRCm39) Y341N probably damaging Het
Mcc T C 18: 44,582,508 (GRCm39) probably null Het
Met A G 6: 17,547,061 (GRCm39) D898G probably damaging Het
Mogs T C 6: 83,092,863 (GRCm39) V101A probably damaging Het
Mrgpra4 A T 7: 47,631,221 (GRCm39) Y127N probably damaging Het
Ms4a18 A G 19: 10,991,071 (GRCm39) S8P probably benign Het
Muc4 A T 16: 32,569,197 (GRCm39) T148S unknown Het
Nutm1 G A 2: 112,078,817 (GRCm39) L1033F probably benign Het
Ocstamp G T 2: 165,239,787 (GRCm39) A133D probably damaging Het
Or5p63 T C 7: 107,810,995 (GRCm39) H247R probably damaging Het
Or8g17 T A 9: 38,930,249 (GRCm39) D196V probably benign Het
Or9s18 G A 13: 65,300,734 (GRCm39) R232Q probably damaging Het
Phf12 C A 11: 77,915,651 (GRCm39) P46Q probably damaging Het
Prf1 A G 10: 61,138,749 (GRCm39) T236A probably damaging Het
Ptcd3 A G 6: 71,884,798 (GRCm39) V47A probably benign Het
Rapgef1 A T 2: 29,626,011 (GRCm39) N1071Y probably damaging Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rnf26rt C A 6: 76,473,558 (GRCm39) A353S probably benign Het
Tango6 C T 8: 107,409,882 (GRCm39) P33L possibly damaging Het
Tasor2 G T 13: 3,649,691 (GRCm39) T36N probably damaging Het
Tbc1d2b C T 9: 90,089,937 (GRCm39) R864H probably damaging Het
Tent2 A G 13: 93,304,432 (GRCm39) probably null Het
Trav10n A T 14: 53,359,929 (GRCm39) I69L probably benign Het
Tsks A G 7: 44,603,296 (GRCm39) Q366R probably damaging Het
Vcan G T 13: 89,853,106 (GRCm39) S618* probably null Het
Vwf T A 6: 125,622,799 (GRCm39) probably null Het
Zfp827 T A 8: 79,787,206 (GRCm39) L124* probably null Het
Other mutations in Or1ab2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03022:Or1ab2 APN 8 72,863,968 (GRCm39) missense probably damaging 0.99
IGL03059:Or1ab2 APN 8 72,863,842 (GRCm39) missense probably damaging 1.00
R1662:Or1ab2 UTSW 8 72,863,623 (GRCm39) missense probably benign 0.09
R1977:Or1ab2 UTSW 8 72,863,698 (GRCm39) missense probably benign 0.41
R3965:Or1ab2 UTSW 8 72,864,108 (GRCm39) missense probably damaging 1.00
R4577:Or1ab2 UTSW 8 72,864,167 (GRCm39) nonsense probably null
R4702:Or1ab2 UTSW 8 72,864,044 (GRCm39) missense probably damaging 1.00
R4703:Or1ab2 UTSW 8 72,864,044 (GRCm39) missense probably damaging 1.00
R4705:Or1ab2 UTSW 8 72,864,044 (GRCm39) missense probably damaging 1.00
R4909:Or1ab2 UTSW 8 72,863,425 (GRCm39) missense probably damaging 1.00
R6542:Or1ab2 UTSW 8 72,863,715 (GRCm39) missense probably damaging 0.98
R6867:Or1ab2 UTSW 8 72,863,707 (GRCm39) missense possibly damaging 0.90
R7094:Or1ab2 UTSW 8 72,863,347 (GRCm39) intron probably benign
R7148:Or1ab2 UTSW 8 72,864,001 (GRCm39) missense possibly damaging 0.50
R8224:Or1ab2 UTSW 8 72,864,223 (GRCm39) missense noncoding transcript
R8904:Or1ab2 UTSW 8 72,864,276 (GRCm39) missense probably damaging 1.00
R9130:Or1ab2 UTSW 8 72,863,697 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GTATACACTGTGGGCGCATTG -3'
(R):5'- ACTGATGAATTGAAGCCATGTG -3'

Sequencing Primer
(F):5'- CATCTTCACAGCAGTGTTGAGGATC -3'
(R):5'- AAGCCATGTGAATGTCTCCG -3'
Posted On 2020-07-13