Incidental Mutation 'R8138:Or51ab3'
ID 632354
Institutional Source Beutler Lab
Gene Symbol Or51ab3
Ensembl Gene ENSMUSG00000078624
Gene Name olfactory receptor family 51 subfamily AB member 3
Synonyms Olfr613, Olfr614, MOR20-1, GA_x6K02T2PBJ9-6275524-6276477, GA_x6K02T2PBJ9-6271959-6272393, MOR20-1
MMRRC Submission 067566-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R8138 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 103199575-103204711 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103201266 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 91 (H91Q)
Ref Sequence ENSEMBL: ENSMUSP00000149332 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106888] [ENSMUST00000214173] [ENSMUST00000214345] [ENSMUST00000215673]
AlphaFold E9PYB4
Predicted Effect probably benign
Transcript: ENSMUST00000106888
AA Change: H91Q

PolyPhen 2 Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000102501
Gene: ENSMUSG00000078624
AA Change: H91Q

DomainStartEndE-ValueType
Pfam:7tm_4 32 311 1.1e-99 PFAM
Pfam:7tm_1 42 293 5.6e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214173
AA Change: H91Q

PolyPhen 2 Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000214345
Predicted Effect probably benign
Transcript: ENSMUST00000215673
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.9%
  • 20x: 96.5%
Validation Efficiency 98% (52/53)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat A G 16: 8,418,829 (GRCm39) D141G probably benign Het
Abcc1 A G 16: 14,290,751 (GRCm39) T1454A probably damaging Het
Acan C A 7: 78,748,175 (GRCm39) T982N probably benign Het
Adam5 A G 8: 25,271,778 (GRCm39) L543P probably damaging Het
Akap13 T A 7: 75,351,979 (GRCm39) probably null Het
Akirin1 G A 4: 123,637,238 (GRCm39) P116S probably benign Het
Bzw2 T C 12: 36,159,819 (GRCm39) D236G probably benign Het
C1qtnf2 G A 11: 43,376,838 (GRCm39) G70D probably damaging Het
Cd44 A G 2: 102,662,842 (GRCm39) I566T probably benign Het
Cltb C T 13: 54,746,596 (GRCm39) D135N possibly damaging Het
Cpeb2 T C 5: 43,392,352 (GRCm39) V516A Het
Cx3cr1 A T 9: 119,880,649 (GRCm39) M251K possibly damaging Het
Ect2l A T 10: 18,045,153 (GRCm39) S301T probably damaging Het
Fgd6 A G 10: 93,970,005 (GRCm39) K1218R probably null Het
Fsip2 T C 2: 82,806,141 (GRCm39) V820A possibly damaging Het
Gnas A G 2: 174,140,179 (GRCm39) E116G probably benign Het
Greb1l T C 18: 10,533,060 (GRCm39) Y985H probably benign Het
Gtpbp3 T C 8: 71,945,242 (GRCm39) L438P probably damaging Het
Habp4 A G 13: 64,323,884 (GRCm39) D269G possibly damaging Het
Igf2r A T 17: 12,920,125 (GRCm39) S1405T probably benign Het
Il17rc A G 6: 113,459,500 (GRCm39) D482G probably damaging Het
Kmt2d A G 15: 98,741,534 (GRCm39) I4542T unknown Het
Lag3 A G 6: 124,882,455 (GRCm39) V347A probably damaging Het
Lmtk2 C T 5: 144,112,415 (GRCm39) S1045L probably damaging Het
Mblac2 A G 13: 81,859,769 (GRCm39) D41G probably damaging Het
Mfsd6 C T 1: 52,748,671 (GRCm39) V65I probably benign Het
Neb A G 2: 52,065,707 (GRCm39) V6175A possibly damaging Het
Nin A G 12: 70,089,672 (GRCm39) S1248P Het
Nlrp4b A T 7: 10,449,458 (GRCm39) M554L probably benign Het
Or5an11 G A 19: 12,246,436 (GRCm39) V281M possibly damaging Het
Or5p59 A T 7: 107,702,764 (GRCm39) S83C possibly damaging Het
Or8k53 T C 2: 86,177,930 (GRCm39) Y60C possibly damaging Het
Pik3r4 C A 9: 105,546,234 (GRCm39) S861R possibly damaging Het
Ppp1r16a T C 15: 76,575,921 (GRCm39) V95A probably damaging Het
Prss40 T C 1: 34,597,080 (GRCm39) Q156R probably damaging Het
Rhbdd3 CACCATGGCTGCTACCATGGCTGCT CACCATGGCTGCT 11: 5,054,303 (GRCm39) probably benign Het
Rnf170 T C 8: 26,616,009 (GRCm39) probably null Het
Smlr1 A G 10: 25,411,939 (GRCm39) V16A probably benign Het
Sowahb A G 5: 93,191,342 (GRCm39) L459P probably benign Het
Srebf2 C T 15: 82,062,966 (GRCm39) R468C probably damaging Het
Tpo T C 12: 30,124,103 (GRCm39) D899G probably benign Het
Traj7 C T 14: 54,448,982 (GRCm39) P19S Het
Trit1 G A 4: 122,937,582 (GRCm39) W131* probably null Het
Vcpip1 GGGAGGCGGCGGCGGCGGCAGCGGAGGAGGCGGCGGCGGC GGGAGGAGGCGGCGGCGGC 1: 9,818,334 (GRCm39) probably benign Het
Vmn1r4 A G 6: 56,934,391 (GRCm39) *298W probably null Het
Vmn2r124 T A 17: 18,283,610 (GRCm39) W435R probably damaging Het
Zbtb41 C T 1: 139,369,545 (GRCm39) R641C probably damaging Het
Zfp84 T A 7: 29,474,797 (GRCm39) F23Y probably damaging Het
Zfp879 G T 11: 50,724,275 (GRCm39) Y260* probably null Het
Zswim9 A T 7: 12,995,337 (GRCm39) F273Y probably damaging Het
Other mutations in Or51ab3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00937:Or51ab3 APN 7 103,201,064 (GRCm39) missense probably damaging 0.99
IGL03009:Or51ab3 APN 7 103,201,734 (GRCm39) nonsense probably null
R0047:Or51ab3 UTSW 7 103,201,529 (GRCm39) missense probably damaging 1.00
R0047:Or51ab3 UTSW 7 103,201,529 (GRCm39) missense probably damaging 1.00
R1559:Or51ab3 UTSW 7 103,201,372 (GRCm39) missense possibly damaging 0.82
R2247:Or51ab3 UTSW 7 103,201,097 (GRCm39) splice site probably null
R4622:Or51ab3 UTSW 7 103,201,361 (GRCm39) missense probably benign 0.00
R4674:Or51ab3 UTSW 7 103,201,183 (GRCm39) missense probably damaging 1.00
R4675:Or51ab3 UTSW 7 103,201,183 (GRCm39) missense probably damaging 1.00
R5101:Or51ab3 UTSW 7 103,201,150 (GRCm39) missense probably damaging 1.00
R6396:Or51ab3 UTSW 7 103,201,888 (GRCm39) nonsense probably null
R6860:Or51ab3 UTSW 7 103,201,075 (GRCm39) missense probably benign
R7310:Or51ab3 UTSW 7 103,201,892 (GRCm39) missense probably damaging 1.00
R7318:Or51ab3 UTSW 7 103,201,298 (GRCm39) missense probably damaging 0.98
R7593:Or51ab3 UTSW 7 103,200,956 (GRCm39) unclassified probably benign
R8046:Or51ab3 UTSW 7 103,201,584 (GRCm39) missense possibly damaging 0.90
R8243:Or51ab3 UTSW 7 103,201,205 (GRCm39) missense probably damaging 1.00
R9784:Or51ab3 UTSW 7 103,201,266 (GRCm39) missense probably benign 0.22
Predicted Primers PCR Primer
(F):5'- GGCTGCACATATGTGGATCTCC -3'
(R):5'- AGAGTGGCTCCTCGTATGAG -3'

Sequencing Primer
(F):5'- CCTTCTGTCTCCTGTACCTGGTAG -3'
(R):5'- TCGTATGAGGGCAGCTCCAC -3'
Posted On 2020-06-30