Incidental Mutation 'R5058:Olfr948'
ID391029
Institutional Source Beutler Lab
Gene Symbol Olfr948
Ensembl Gene ENSMUSG00000057349
Gene Nameolfactory receptor 948
SynonymsMOR171-45, GA_x6K02T2PVTD-33016899-33015934, MOR171-51
MMRRC Submission 042648-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock #R5058 (G1)
Quality Score225
Status Validated
Chromosome9
Chromosomal Location39315712-39326045 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 39318664 bp
ZygosityHeterozygous
Amino Acid Change Valine to Leucine at position 317 (V317L)
Ref Sequence ENSEMBL: ENSMUSP00000149422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076516] [ENSMUST00000216132]
Predicted Effect probably benign
Transcript: ENSMUST00000076516
AA Change: V317L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000075834
Gene: ENSMUSG00000057349
AA Change: V317L

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.6e-49 PFAM
Pfam:7tm_1 41 290 1.1e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216132
AA Change: V317L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.2%
Validation Efficiency 100% (79/79)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprhl1 T C 8: 13,242,625 Y222C probably damaging Het
Adprhl2 A G 4: 126,318,445 S94P probably damaging Het
Atp11b A G 3: 35,809,361 E202G probably benign Het
Cacna1d G T 14: 30,114,244 S849* probably null Het
Camsap1 T C 2: 25,939,363 D783G probably benign Het
Cbfa2t2 T A 2: 154,504,745 I124N probably damaging Het
Ccdc13 A T 9: 121,817,547 probably benign Het
Cfap44 G A 16: 44,420,204 probably null Het
Col17a1 C A 19: 47,685,550 E13* probably null Het
Cybb C G X: 9,450,750 D246H probably benign Het
Dennd6b A G 15: 89,187,350 L288P possibly damaging Het
Dhx37 A C 5: 125,422,231 Y638D probably benign Het
Epb41 G A 4: 132,007,435 probably benign Het
Esp31 A T 17: 38,644,609 I48L possibly damaging Het
Fat3 T C 9: 15,996,858 Q2616R probably damaging Het
Fbxo33 A G 12: 59,219,133 I116T probably benign Het
Flnb G T 14: 7,924,262 E1792* probably null Het
Fzd2 G A 11: 102,604,807 G26R probably damaging Het
Gm11677 T A 11: 111,725,438 noncoding transcript Het
Gm7137 A T 10: 77,788,071 probably benign Het
Hnrnpr A G 4: 136,336,337 T252A possibly damaging Het
Hyal5 T C 6: 24,891,485 F433L probably damaging Het
Kcnmb4 T A 10: 116,463,928 probably benign Het
Meltf A G 16: 31,887,603 probably null Het
Mllt6 G A 11: 97,669,500 S210N possibly damaging Het
Muc6 T C 7: 141,644,224 D1213G probably benign Het
Ncam1 A C 9: 49,798,695 F12C probably benign Het
Nfxl1 A T 5: 72,556,239 D120E probably benign Het
Nrg1 T C 8: 31,824,559 Q142R probably damaging Het
Olfr132 G A 17: 38,130,541 S217F probably damaging Het
Olfr180 T C 16: 58,916,072 T190A probably benign Het
Olfr250 C A 9: 38,367,924 T116K probably damaging Het
Olfr347 T G 2: 36,734,999 L226R possibly damaging Het
Olfr466 C A 13: 65,152,929 A235D possibly damaging Het
Olfr684 T C 7: 105,157,148 N178S probably damaging Het
Olfr95 A G 17: 37,211,667 L62P probably damaging Het
Padi2 G T 4: 140,932,121 V246L probably benign Het
Pgghg C T 7: 140,942,542 T63I possibly damaging Het
Pitpnm1 A G 19: 4,112,758 N1117S probably benign Het
Plch1 G T 3: 63,722,781 T534K probably damaging Het
Poc1a G T 9: 106,349,813 probably benign Het
Polr3c T C 3: 96,723,517 I196V probably benign Het
Prph A T 15: 99,055,232 probably benign Het
Ptprg C A 14: 12,037,387 T189K possibly damaging Het
R3hcc1 A T 14: 69,704,014 I183N probably damaging Het
Rundc1 T C 11: 101,425,537 L145P probably benign Het
Slc26a3 A G 12: 31,470,965 K723E possibly damaging Het
Slc38a3 T C 9: 107,659,191 E2G possibly damaging Het
Slc9a5 G T 8: 105,355,858 V252L probably benign Het
Smim26 C T 2: 144,595,123 T64M probably benign Het
Socs4 C T 14: 47,290,132 R175* probably null Het
Srebf2 T C 15: 82,182,050 S600P probably damaging Het
Tas2r107 A T 6: 131,659,742 S115T probably damaging Het
Tenm2 T C 11: 36,207,080 D447G possibly damaging Het
Thbs2 T A 17: 14,676,329 D766V probably damaging Het
Tinagl1 A G 4: 130,167,457 V300A probably benign Het
Tle6 C A 10: 81,595,957 W151L probably damaging Het
Tle6 T A 10: 81,594,238 N332I possibly damaging Het
Tnfrsf13c C T 15: 82,224,207 V36M probably damaging Het
Tns2 T C 15: 102,107,860 I211T possibly damaging Het
Trp63 A G 16: 25,882,594 N379D probably damaging Het
Trpc2 T C 7: 102,089,109 W433R probably damaging Het
Tyw1 T A 5: 130,277,086 L350Q probably benign Het
Usf3 T C 16: 44,212,707 L76P probably damaging Het
Vmn2r79 T C 7: 87,002,215 L274P probably damaging Het
Other mutations in Olfr948
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01588:Olfr948 APN 9 39318832 nonsense probably null
IGL02297:Olfr948 APN 9 39318703 missense possibly damaging 0.64
IGL02678:Olfr948 APN 9 39318921 missense probably benign 0.01
IGL03182:Olfr948 APN 9 39318981 missense probably benign 0.16
R0116:Olfr948 UTSW 9 39318864 missense probably damaging 1.00
R0152:Olfr948 UTSW 9 39319461 missense probably benign 0.32
R0227:Olfr948 UTSW 9 39318678 missense probably benign 0.00
R0317:Olfr948 UTSW 9 39319461 missense probably benign 0.32
R2151:Olfr948 UTSW 9 39319117 missense probably damaging 0.97
R2210:Olfr948 UTSW 9 39318793 missense probably damaging 1.00
R2974:Olfr948 UTSW 9 39318996 missense probably damaging 1.00
R4716:Olfr948 UTSW 9 39319429 missense probably benign 0.22
R4886:Olfr948 UTSW 9 39319585 missense probably benign 0.01
R5339:Olfr948 UTSW 9 39319303 missense possibly damaging 0.94
R6431:Olfr948 UTSW 9 39318778 missense possibly damaging 0.50
R6736:Olfr948 UTSW 9 39318793 missense probably damaging 1.00
R6902:Olfr948 UTSW 9 39319019 missense probably damaging 1.00
R6946:Olfr948 UTSW 9 39319019 missense probably damaging 1.00
R8303:Olfr948 UTSW 9 39319393 missense probably damaging 1.00
R8314:Olfr948 UTSW 9 39319305 missense probably damaging 1.00
R8413:Olfr948 UTSW 9 39319105 nonsense probably null
Predicted Primers PCR Primer
(F):5'- CAGCTATGGCCATAAGCATTC -3'
(R):5'- TTACAGCCTTCATCAGTGAGTTTG -3'

Sequencing Primer
(F):5'- GGCCATAAGCATTCATGTTATCC -3'
(R):5'- CATCAGTGAGTTTGGTGGACC -3'
Posted On2016-06-06