Incidental Mutation 'R5647:Or5b113'
ID 441249
Institutional Source Beutler Lab
Gene Symbol Or5b113
Ensembl Gene ENSMUSG00000049015
Gene Name olfactory receptor family 5 subfamily B member 113
Synonyms GA_x6K02T2RE5P-3695694-3696620, Olfr1467, MOR202-15
MMRRC Submission 043295-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R5647 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 13341994-13342920 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13342541 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 183 (V183A)
Ref Sequence ENSEMBL: ENSMUSP00000149487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054687] [ENSMUST00000215096]
AlphaFold Q8VFW1
Predicted Effect probably damaging
Transcript: ENSMUST00000054687
AA Change: V183A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000061580
Gene: ENSMUSG00000049015
AA Change: V183A

DomainStartEndE-ValueType
Pfam:7tm_4 30 307 6.6e-48 PFAM
Pfam:7tm_1 40 289 7.4e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215096
AA Change: V183A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Meta Mutation Damage Score 0.1076 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 95% (55/58)
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
1700010L04Rik T C 7: 82,505,606 (GRCm39) noncoding transcript Het
9330159F19Rik A T 10: 29,101,250 (GRCm39) D541V probably damaging Het
Abcc5 T C 16: 20,218,597 (GRCm39) I262V probably damaging Het
Acvr1c T A 2: 58,185,976 (GRCm39) D169V probably damaging Het
Aldh16a1 A G 7: 44,803,889 (GRCm39) V6A probably benign Het
Brd10 A G 19: 29,731,210 (GRCm39) S601P possibly damaging Het
Cd36 A C 5: 18,019,763 (GRCm39) S113A probably damaging Het
Cdt1 G T 8: 123,296,947 (GRCm39) R247L possibly damaging Het
Ces4a G A 8: 105,872,712 (GRCm39) V322M probably benign Het
Cngb3 A T 4: 19,364,266 (GRCm39) T157S possibly damaging Het
Cpped1 T C 16: 11,646,010 (GRCm39) probably benign Het
Ctr9 G T 7: 110,654,751 (GRCm39) R1094L unknown Het
Cyld A T 8: 89,461,554 (GRCm39) I664L probably benign Het
Dvl2 C T 11: 69,900,275 (GRCm39) P690S possibly damaging Het
Fbxo7 A C 10: 85,864,974 (GRCm39) E94D probably damaging Het
Fstl5 A C 3: 76,496,399 (GRCm39) K387N probably damaging Het
Gm9845 A C 3: 39,412,520 (GRCm39) noncoding transcript Het
Hk1 T C 10: 62,111,523 (GRCm39) D746G probably damaging Het
Lmbr1 A G 5: 29,468,391 (GRCm39) probably null Het
Lrp2 C T 2: 69,350,258 (GRCm39) A705T probably null Het
Lrrc37 T C 11: 103,508,300 (GRCm39) probably benign Het
Mybpc3 A G 2: 90,952,067 (GRCm39) probably null Het
Myo15b T A 11: 115,762,337 (GRCm39) L1219Q probably damaging Het
Naa35 G A 13: 59,770,680 (GRCm39) probably benign Het
Or4g16 G T 2: 111,137,392 (GRCm39) A281S possibly damaging Het
Or5b111 A T 19: 13,291,553 (GRCm39) I32N probably damaging Het
Pcdhb18 G A 18: 37,623,537 (GRCm39) R289Q probably benign Het
Pcnt T C 10: 76,221,675 (GRCm39) T1984A probably benign Het
Plcg1 T C 2: 160,593,588 (GRCm39) L251P probably benign Het
Plin1 T A 7: 79,371,320 (GRCm39) D468V probably benign Het
Pmp2 A G 3: 10,248,845 (GRCm39) V12A probably benign Het
Rnf19a T A 15: 36,266,109 (GRCm39) probably benign Het
Rnf214 G A 9: 45,779,344 (GRCm39) Q469* probably null Het
Rrp1b T G 17: 32,274,985 (GRCm39) probably benign Het
Rtl1 C T 12: 109,561,113 (GRCm39) R242Q unknown Het
Sema3e A T 5: 14,275,567 (GRCm39) E224V probably damaging Het
Sphkap A G 1: 83,385,720 (GRCm39) S5P probably damaging Het
Stab1 A C 14: 30,879,397 (GRCm39) Y694* probably null Het
Stambpl1 T C 19: 34,211,686 (GRCm39) L249P probably benign Het
Thap4 A T 1: 93,642,665 (GRCm39) H515Q probably damaging Het
Ticam1 TCACACA TCACA 17: 56,577,629 (GRCm39) probably null Het
Uaca A G 9: 60,779,380 (GRCm39) R1256G probably benign Het
Usp17lb T A 7: 104,489,881 (GRCm39) N348Y possibly damaging Het
Vmn1r42 A G 6: 89,822,314 (GRCm39) I85T probably benign Het
Vps9d1 A T 8: 123,975,598 (GRCm39) L149Q probably damaging Het
Zdhhc17 A T 10: 110,809,694 (GRCm39) I153N probably damaging Het
Zfp207 G A 11: 80,283,959 (GRCm39) S293N possibly damaging Het
Zfp346 A G 13: 55,270,170 (GRCm39) D198G probably damaging Het
Zfp953 A T 13: 67,491,536 (GRCm39) C139S possibly damaging Het
Other mutations in Or5b113
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00936:Or5b113 APN 19 13,341,988 (GRCm39) utr 5 prime probably benign
IGL01109:Or5b113 APN 19 13,342,063 (GRCm39) missense probably benign
IGL01939:Or5b113 APN 19 13,342,807 (GRCm39) missense probably benign 0.14
IGL02188:Or5b113 APN 19 13,342,643 (GRCm39) missense probably damaging 0.98
IGL02188:Or5b113 APN 19 13,342,396 (GRCm39) missense probably benign 0.39
IGL03223:Or5b113 APN 19 13,342,645 (GRCm39) missense probably benign
R0456:Or5b113 UTSW 19 13,342,102 (GRCm39) missense probably damaging 0.98
R1066:Or5b113 UTSW 19 13,342,451 (GRCm39) missense probably benign
R1189:Or5b113 UTSW 19 13,342,543 (GRCm39) missense probably benign 0.03
R1668:Or5b113 UTSW 19 13,342,234 (GRCm39) missense probably benign 0.00
R1754:Or5b113 UTSW 19 13,342,717 (GRCm39) missense probably damaging 1.00
R1860:Or5b113 UTSW 19 13,342,705 (GRCm39) missense possibly damaging 0.80
R1861:Or5b113 UTSW 19 13,342,705 (GRCm39) missense possibly damaging 0.80
R2181:Or5b113 UTSW 19 13,342,438 (GRCm39) missense probably benign 0.08
R2219:Or5b113 UTSW 19 13,342,901 (GRCm39) missense possibly damaging 0.88
R2516:Or5b113 UTSW 19 13,342,557 (GRCm39) nonsense probably null
R4757:Or5b113 UTSW 19 13,342,810 (GRCm39) missense probably benign 0.23
R5206:Or5b113 UTSW 19 13,342,429 (GRCm39) missense possibly damaging 0.91
R5376:Or5b113 UTSW 19 13,342,762 (GRCm39) missense possibly damaging 0.95
R5724:Or5b113 UTSW 19 13,342,515 (GRCm39) missense possibly damaging 0.62
R5741:Or5b113 UTSW 19 13,342,847 (GRCm39) missense probably damaging 0.97
R5906:Or5b113 UTSW 19 13,342,369 (GRCm39) missense probably damaging 1.00
R6636:Or5b113 UTSW 19 13,342,589 (GRCm39) missense probably benign 0.06
R6637:Or5b113 UTSW 19 13,342,589 (GRCm39) missense probably benign 0.06
R7000:Or5b113 UTSW 19 13,341,987 (GRCm39) start gained probably benign
R7254:Or5b113 UTSW 19 13,342,475 (GRCm39) missense probably benign 0.28
R7325:Or5b113 UTSW 19 13,342,001 (GRCm39) missense probably benign 0.00
R7773:Or5b113 UTSW 19 13,342,598 (GRCm39) missense probably benign 0.07
R7828:Or5b113 UTSW 19 13,342,510 (GRCm39) missense probably benign 0.10
R9081:Or5b113 UTSW 19 13,342,019 (GRCm39) missense probably benign 0.12
R9135:Or5b113 UTSW 19 13,342,755 (GRCm39) missense possibly damaging 0.46
R9151:Or5b113 UTSW 19 13,342,222 (GRCm39) missense possibly damaging 0.95
R9470:Or5b113 UTSW 19 13,342,115 (GRCm39) missense probably damaging 1.00
R9792:Or5b113 UTSW 19 13,342,514 (GRCm39) missense probably damaging 0.99
R9793:Or5b113 UTSW 19 13,342,514 (GRCm39) missense probably damaging 0.99
Z1176:Or5b113 UTSW 19 13,342,280 (GRCm39) missense probably damaging 1.00
Z1176:Or5b113 UTSW 19 13,342,279 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGTGGAGAATTACCTGTTGGC -3'
(R):5'- GGCACAGGTGGATATAGCCTTG -3'

Sequencing Primer
(F):5'- CAATGGCCTATGATCGCTATGCAG -3'
(R):5'- ATATAGCCTTGTGATGTCCTGCAGC -3'
Posted On 2016-11-08