Incidental Mutation 'R7270:Or5b108'
ID 565266
Institutional Source Beutler Lab
Gene Symbol Or5b108
Ensembl Gene ENSMUSG00000094721
Gene Name olfactory receptor family 5 subfamily B member 108
Synonyms GA_x6K02T2RE5P-3517488-3518411, Olfr1462, MOR202-13
MMRRC Submission 045390-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R7270 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 13168033-13168956 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 13168768 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 246 (V246I)
Ref Sequence ENSEMBL: ENSMUSP00000147174 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076832] [ENSMUST00000208533]
AlphaFold Q8VFW3
Predicted Effect possibly damaging
Transcript: ENSMUST00000076832
AA Change: V246I

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000076107
Gene: ENSMUSG00000094721
AA Change: V246I

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 1.3e-51 PFAM
Pfam:7tm_1 39 288 6e-16 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000208533
AA Change: V246I

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg1l A T 10: 42,301,245 (GRCm39) Y193N probably damaging Het
Ahnak2 A T 12: 112,780,802 (GRCm38) V70E Het
Aimp1 T C 3: 132,382,772 (GRCm39) K44E probably damaging Het
Arid1b T A 17: 5,046,318 (GRCm39) Y369N unknown Het
Art5 A T 7: 101,747,080 (GRCm39) V233D probably damaging Het
Baz2b T A 2: 59,792,836 (GRCm39) N431Y possibly damaging Het
Bik T A 15: 83,428,364 (GRCm39) F131I possibly damaging Het
Bmpr1a A G 14: 34,163,082 (GRCm39) Y103H probably damaging Het
Cabp7 C T 11: 4,696,676 (GRCm39) V18M possibly damaging Het
Cacna1a C A 8: 85,297,866 (GRCm39) T1240N probably damaging Het
Cacna1h A G 17: 25,603,739 (GRCm39) V1311A probably damaging Het
Cbarp A C 10: 79,973,151 (GRCm39) S16A possibly damaging Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Ces2b A T 8: 105,564,472 (GRCm39) H494L possibly damaging Het
Cfap43 T A 19: 47,728,224 (GRCm39) H1511L possibly damaging Het
Cfap54 A G 10: 92,675,320 (GRCm39) V2867A probably benign Het
Col5a1 C T 2: 27,887,597 (GRCm39) P956L unknown Het
Dcakd T G 11: 102,891,032 (GRCm39) Q19P possibly damaging Het
Ddx47 T A 6: 135,000,301 (GRCm39) D432E probably benign Het
Dhrs7b T C 11: 60,735,055 (GRCm39) F29L probably benign Het
Dis3l2 A T 1: 86,918,025 (GRCm39) D558V possibly damaging Het
Dtx3l T A 16: 35,754,027 (GRCm39) D193V probably damaging Het
Eif1ad12 T C 12: 87,541,663 (GRCm39) L58P probably damaging Het
Epha4 G A 1: 77,376,422 (GRCm39) R486C probably damaging Het
Fam186a T C 15: 99,842,033 (GRCm39) T1404A possibly damaging Het
Fat1 A G 8: 45,490,475 (GRCm39) T3796A probably damaging Het
Ffar2 A T 7: 30,518,929 (GRCm39) W204R probably benign Het
Ftmt A G 18: 52,465,091 (GRCm39) I136V probably benign Het
Gm10300 T C 4: 131,802,167 (GRCm39) W54R unknown Het
Gm10518 C T 1: 179,630,949 (GRCm39) P3L unknown Het
Grm2 G A 9: 106,528,257 (GRCm39) T209M probably damaging Het
Gtdc1 C T 2: 44,525,322 (GRCm39) M176I probably benign Het
Insrr T C 3: 87,710,440 (GRCm39) L382P probably damaging Het
Jade2 A G 11: 51,708,011 (GRCm39) V734A possibly damaging Het
Kcnh4 C T 11: 100,638,472 (GRCm39) R586H probably benign Het
Kdm1a A T 4: 136,279,838 (GRCm39) D721E probably damaging Het
Knl1 G A 2: 118,933,003 (GRCm39) C2054Y possibly damaging Het
Lrrk2 C T 15: 91,584,644 (GRCm39) P354S probably benign Het
Luzp2 A G 7: 54,724,774 (GRCm39) I112V probably damaging Het
Mgl2 T C 11: 70,026,506 (GRCm39) S105P probably damaging Het
Mocs1 T A 17: 49,756,143 (GRCm39) M200K possibly damaging Het
Oat T A 7: 132,168,927 (GRCm39) I98L probably benign Het
Obscn T C 11: 58,920,312 (GRCm39) Y8C Het
Or6c1b T G 10: 129,273,319 (GRCm39) F213V probably benign Het
Pde1b T A 15: 103,430,082 (GRCm39) M137K possibly damaging Het
Phf21a T C 2: 92,157,484 (GRCm39) I204T probably damaging Het
Plcd4 A G 1: 74,593,838 (GRCm39) E321G possibly damaging Het
Plpp7 C T 2: 31,985,662 (GRCm39) probably benign Het
Prdm1 A G 10: 44,317,566 (GRCm39) I419T probably benign Het
Sec16b A T 1: 157,392,032 (GRCm39) R855W probably damaging Het
Sec16b G T 1: 157,392,033 (GRCm39) R855M probably damaging Het
Sec31b T C 19: 44,511,482 (GRCm39) T640A probably benign Het
Siglec1 T C 2: 130,923,471 (GRCm39) T425A possibly damaging Het
Sirpd A T 3: 15,385,704 (GRCm39) I66N probably benign Het
Skil T C 3: 31,151,324 (GRCm39) probably benign Het
Slc1a5 G A 7: 16,519,623 (GRCm39) V200M probably damaging Het
Slc25a12 T C 2: 71,154,369 (GRCm39) H139R probably benign Het
Slc25a32 A T 15: 38,961,630 (GRCm39) V187D probably damaging Het
Slc35a3 G A 3: 116,505,455 (GRCm39) probably benign Het
Smap2 C A 4: 120,829,264 (GRCm39) M328I probably benign Het
Spef2 C T 15: 9,600,066 (GRCm39) probably null Het
Srarp A G 4: 141,160,389 (GRCm39) V148A possibly damaging Het
Stard9 T A 2: 120,464,755 (GRCm39) Y73* probably null Het
Tars1 A G 15: 11,392,105 (GRCm39) C236R probably benign Het
Tchh G C 3: 93,351,837 (GRCm39) D426H unknown Het
Tnks2 T C 19: 36,836,545 (GRCm39) F17S Het
Ube2g1 T C 11: 72,553,939 (GRCm39) I30T possibly damaging Het
Ube2o C T 11: 116,434,761 (GRCm39) D567N possibly damaging Het
Unc5b A T 10: 60,608,002 (GRCm39) Y710* probably null Het
Vmn1r215 T C 13: 23,260,089 (GRCm39) V43A possibly damaging Het
Xkr8 A G 4: 132,455,648 (GRCm39) F242L probably benign Het
Zfp526 T A 7: 24,925,345 (GRCm39) C535S probably damaging Het
Other mutations in Or5b108
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01114:Or5b108 APN 19 13,168,598 (GRCm39) missense possibly damaging 0.60
IGL01999:Or5b108 APN 19 13,168,924 (GRCm39) missense probably damaging 0.99
IGL02326:Or5b108 APN 19 13,168,779 (GRCm39) nonsense probably null
IGL03381:Or5b108 APN 19 13,168,769 (GRCm39) missense probably damaging 0.98
R1184:Or5b108 UTSW 19 13,168,739 (GRCm39) missense probably damaging 0.99
R1434:Or5b108 UTSW 19 13,168,662 (GRCm39) missense probably benign 0.19
R2161:Or5b108 UTSW 19 13,168,673 (GRCm39) missense probably damaging 0.99
R2399:Or5b108 UTSW 19 13,168,709 (GRCm39) missense probably benign 0.02
R4583:Or5b108 UTSW 19 13,168,062 (GRCm39) missense probably damaging 1.00
R5937:Or5b108 UTSW 19 13,168,675 (GRCm39) missense probably damaging 1.00
R7164:Or5b108 UTSW 19 13,168,270 (GRCm39) missense probably benign 0.00
R7645:Or5b108 UTSW 19 13,168,937 (GRCm39) missense probably benign 0.01
R7649:Or5b108 UTSW 19 13,168,136 (GRCm39) missense possibly damaging 0.94
R9713:Or5b108 UTSW 19 13,168,727 (GRCm39) missense probably benign 0.15
R9742:Or5b108 UTSW 19 13,168,769 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGTGAGTCCAATGTCATTCATC -3'
(R):5'- ACCTCAATACAACCTTTGTGAATGC -3'

Sequencing Primer
(F):5'- GCAGTCATGATAATATCTCGCTCTG -3'
(R):5'- ACAACCTTTGTGAATGCATTCTTCAC -3'
Posted On 2019-06-26