Incidental Mutation 'R5101:Or51ab3'
ID 392357
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 042852-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R5101 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 103199575-103204711 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 103201150 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 53 (E53K)
Ref Sequence ENSEMBL: ENSMUSP00000149332 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106888] [ENSMUST00000214173] [ENSMUST00000214345] [ENSMUST00000215673]
AlphaFold E9PYB4
Predicted Effect probably damaging
Transcript: ENSMUST00000106888
AA Change: E53K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102501
Gene: ENSMUSG00000078624
AA Change: E53K

DomainStartEndE-ValueType
Pfam:7tm_4 32 311 1.1e-99 PFAM
Pfam:7tm_1 42 293 5.6e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214173
AA Change: E53K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000214345
Predicted Effect probably benign
Transcript: ENSMUST00000215673
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.0%
Validation Efficiency 100% (57/57)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam17 T C 12: 21,423,406 (GRCm39) T10A possibly damaging Het
Adgrg3 T C 8: 95,763,563 (GRCm39) F288S probably benign Het
Ago2 A G 15: 72,991,339 (GRCm39) V533A probably damaging Het
Akap9 T G 5: 4,051,748 (GRCm39) V1505G probably damaging Het
Apob T C 12: 8,061,934 (GRCm39) I3439T probably benign Het
C1qtnf7 T A 5: 43,773,314 (GRCm39) Y204* probably null Het
Cdc42bpb T C 12: 111,265,549 (GRCm39) E1461G probably damaging Het
Cdh3 C T 8: 107,268,024 (GRCm39) A353V possibly damaging Het
Clec4d A G 6: 123,244,071 (GRCm39) Y60C probably damaging Het
Cmya5 T A 13: 93,228,111 (GRCm39) T2326S possibly damaging Het
Cnot1 G A 8: 96,486,815 (GRCm39) L631F possibly damaging Het
Cntnap5a C T 1: 116,370,026 (GRCm39) T881I probably benign Het
Col6a1 T A 10: 76,545,740 (GRCm39) T911S unknown Het
Ctsw A G 19: 5,515,703 (GRCm39) V287A probably benign Het
Cyp2c23 T C 19: 44,017,622 (GRCm39) E2G unknown Het
Cytip A T 2: 58,037,911 (GRCm39) I151N probably damaging Het
Dnah10 A G 5: 124,909,577 (GRCm39) T4399A possibly damaging Het
Dock3 A T 9: 106,846,980 (GRCm39) I883N probably damaging Het
Entpd3 A G 9: 120,395,608 (GRCm39) *530W probably null Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Gp1ba G A 11: 70,532,225 (GRCm39) V664M probably benign Het
Gpd2 T A 2: 57,245,913 (GRCm39) I481N probably damaging Het
Gvin-ps5 T C 7: 105,929,096 (GRCm39) noncoding transcript Het
Ildr2 A G 1: 166,135,331 (GRCm39) D342G probably damaging Het
Krt87 A G 15: 101,385,391 (GRCm39) I327T probably benign Het
Lats1 T A 10: 7,588,348 (GRCm39) C988* probably null Het
Lpin2 G A 17: 71,550,965 (GRCm39) W708* probably null Het
Mast4 T C 13: 102,872,864 (GRCm39) D2168G probably benign Het
Myo6 G T 9: 80,177,321 (GRCm39) E606* probably null Het
Nek7 A G 1: 138,443,431 (GRCm39) V174A probably benign Het
Nid1 T A 13: 13,658,339 (GRCm39) C695S probably damaging Het
Nme8 A G 13: 19,875,017 (GRCm39) probably null Het
Nr2c2 T C 6: 92,131,497 (GRCm39) probably null Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2ag18 A T 7: 106,405,420 (GRCm39) I83K possibly damaging Het
Or4x11 A G 2: 89,867,391 (GRCm39) M43V probably benign Het
Or9g19 A G 2: 85,600,268 (GRCm39) N41S probably damaging Het
Pms2 A G 5: 143,865,006 (GRCm39) D696G probably damaging Het
Psapl1 T A 5: 36,361,494 (GRCm39) C29S probably damaging Het
Scn3a A T 2: 65,291,850 (GRCm39) V1632D probably damaging Het
Slc22a1 C T 17: 12,886,129 (GRCm39) G168D probably damaging Het
Smad4 A G 18: 73,808,931 (GRCm39) V112A probably benign Het
Smc4 T C 3: 68,935,845 (GRCm39) V796A probably benign Het
Smco4 A G 9: 15,455,968 (GRCm39) E18G unknown Het
Spata31e2 T C 1: 26,722,417 (GRCm39) E921G possibly damaging Het
Sugp2 A G 8: 70,713,139 (GRCm39) E1035G probably damaging Het
Syde2 T C 3: 145,721,393 (GRCm39) S820P probably damaging Het
Syn2 T C 6: 115,240,860 (GRCm39) L410P probably damaging Het
Tmem131l T C 3: 83,844,811 (GRCm39) N466S probably damaging Het
Uba1y T G Y: 821,447 (GRCm39) probably null Het
Unc79 T C 12: 103,078,769 (GRCm39) S1645P probably damaging Het
Vmn2r17 A T 5: 109,576,217 (GRCm39) S363C probably damaging Het
Vmn2r78 T C 7: 86,571,563 (GRCm39) Y458H 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
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
R8138:Or51ab3 UTSW 7 103,201,266 (GRCm39) missense probably benign 0.22
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'- TCCTGGACTGCAGTTCTACC -3'
(R):5'- CCAAGCGGTCAAAAGCCATG -3'

Sequencing Primer
(F):5'- ACCTCCAACTCATCATGTCAGATGTG -3'
(R):5'- CCTGACTCTACAGAGGACAGTGTG -3'
Posted On 2016-06-15