Incidental Mutation 'R1081:Or51b4'
ID 152698
Institutional Source Beutler Lab
Gene Symbol Or51b4
Ensembl Gene ENSMUSG00000058200
Gene Name olfactory receptor family 51 subfamily B member 4
Synonyms GA_x6K02T2PBJ9-6620959-6620024, 5'[b]1, Olfr66, MOR1-3
MMRRC Submission 039167-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.197) question?
Stock # R1081 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 103530513-103531448 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103531384 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 22 (H22L)
Ref Sequence ENSEMBL: ENSMUSP00000149058 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079117] [ENSMUST00000216303]
AlphaFold F8VQ01
Predicted Effect possibly damaging
Transcript: ENSMUST00000079117
AA Change: H22L

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000078119
Gene: ENSMUSG00000058200
AA Change: H22L

DomainStartEndE-ValueType
Pfam:7tm_4 29 308 3.9e-113 PFAM
Pfam:7TM_GPCR_Srsx 32 300 9.7e-7 PFAM
Pfam:7tm_1 39 290 8.4e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120890
Predicted Effect possibly damaging
Transcript: ENSMUST00000216303
AA Change: H22L

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.8%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik A G 6: 83,139,002 (GRCm39) E309G probably benign Het
Abr T C 11: 76,346,441 (GRCm39) K448E probably damaging Het
Atxn2l T C 7: 126,093,384 (GRCm39) Y785C probably damaging Het
Atxn3 T G 12: 101,900,608 (GRCm39) D225A probably damaging Het
Cdh15 G C 8: 123,584,234 (GRCm39) E112Q probably damaging Het
Cntnap5c A G 17: 58,612,520 (GRCm39) D853G possibly damaging Het
Dnah9 A G 11: 65,975,703 (GRCm39) Y1449H probably damaging Het
Dsc2 T G 18: 20,166,352 (GRCm39) T760P probably damaging Het
Dync2h1 A T 9: 7,005,488 (GRCm39) probably null Het
Epg5 T C 18: 78,002,748 (GRCm39) F611L possibly damaging Het
Fat3 T C 9: 16,286,580 (GRCm39) D981G possibly damaging Het
Gimap3 A T 6: 48,742,086 (GRCm39) C281* probably null Het
Ids T C X: 69,404,716 (GRCm39) D149G possibly damaging Het
Inpp4b A G 8: 82,795,653 (GRCm39) I826V probably damaging Het
Kcnrg C A 14: 61,845,163 (GRCm39) H68N possibly damaging Het
Klra6 A G 6: 129,999,588 (GRCm39) Y127H probably damaging Het
Lypd10 T C 7: 24,412,967 (GRCm39) probably null Het
Mepce A G 5: 137,782,958 (GRCm39) L456P probably damaging Het
Mink1 T C 11: 70,497,861 (GRCm39) L488P probably benign Het
Mndal T A 1: 173,687,788 (GRCm39) E482V probably benign Het
Mob1b G A 5: 88,901,021 (GRCm39) V143I probably benign Het
Msh4 T C 3: 153,577,995 (GRCm39) E433G probably benign Het
Myof A T 19: 37,974,536 (GRCm39) I201N probably damaging Het
Naip1 G A 13: 100,559,578 (GRCm39) S1142F probably benign Het
Ntsr1 G A 2: 180,180,549 (GRCm39) S285N probably benign Het
Or2ak6 C T 11: 58,593,324 (GRCm39) H266Y probably damaging Het
Or4k2 A G 14: 50,424,654 (GRCm39) S7P probably damaging Het
Or52ab7 A G 7: 102,978,245 (GRCm39) Y184C probably damaging Het
P2rx4 A G 5: 122,865,296 (GRCm39) E307G probably damaging Het
Pcdh15 A G 10: 74,286,145 (GRCm39) D793G probably damaging Het
Rpap1 G A 2: 119,601,750 (GRCm39) R737W probably damaging Het
Rpusd4 A G 9: 35,186,384 (GRCm39) K307E probably benign Het
Shtn1 T A 19: 58,963,447 (GRCm39) T623S probably benign Het
Sntg1 A G 1: 8,515,343 (GRCm39) C397R possibly damaging Het
Stat5a T C 11: 100,771,886 (GRCm39) F646S probably damaging Het
Tacc2 A G 7: 130,330,304 (GRCm39) E196G possibly damaging Het
Tcf25 T C 8: 124,108,212 (GRCm39) V89A probably benign Het
Trim7 G T 11: 48,740,532 (GRCm39) V210L probably damaging Het
Vmn2r57 A G 7: 41,077,635 (GRCm39) M177T possibly damaging Het
Wwc2 G A 8: 48,281,799 (GRCm39) probably benign Het
Zfp28 A G 7: 6,392,779 (GRCm39) I152V possibly damaging Het
Zfp628 A G 7: 4,923,182 (GRCm39) H468R probably damaging Het
Zfp770 A G 2: 114,027,608 (GRCm39) Y154H probably damaging Het
Other mutations in Or51b4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02342:Or51b4 APN 7 103,530,587 (GRCm39) missense probably benign 0.16
IGL02935:Or51b4 APN 7 103,530,871 (GRCm39) missense probably damaging 1.00
IGL03033:Or51b4 APN 7 103,530,724 (GRCm39) missense probably damaging 1.00
IGL03105:Or51b4 APN 7 103,531,339 (GRCm39) missense possibly damaging 0.55
R1780:Or51b4 UTSW 7 103,530,799 (GRCm39) missense probably benign 0.00
R4470:Or51b4 UTSW 7 103,530,956 (GRCm39) missense probably benign 0.02
R4724:Or51b4 UTSW 7 103,530,856 (GRCm39) missense probably benign 0.02
R5463:Or51b4 UTSW 7 103,530,541 (GRCm39) missense probably benign
R5498:Or51b4 UTSW 7 103,530,839 (GRCm39) missense probably damaging 0.97
R5987:Or51b4 UTSW 7 103,530,907 (GRCm39) missense probably damaging 0.99
R6054:Or51b4 UTSW 7 103,531,033 (GRCm39) missense probably damaging 0.98
R7815:Or51b4 UTSW 7 103,530,992 (GRCm39) missense probably benign 0.16
R8026:Or51b4 UTSW 7 103,530,904 (GRCm39) missense possibly damaging 0.96
R9114:Or51b4 UTSW 7 103,530,569 (GRCm39) missense possibly damaging 0.96
R9570:Or51b4 UTSW 7 103,530,856 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TCGATCATAAGACATGGCAAGCAAGAC -3'
(R):5'- GTGACCTGAAGACATGCTACCATGAG -3'

Sequencing Primer
(F):5'- CCCGATTCTACAATGGCTAGTGAG -3'
(R):5'- CTACCATGAGGTGGCAGTAGG -3'
Posted On 2014-01-29