Incidental Mutation 'R4500:Or14a257'
ID 331783
Institutional Source Beutler Lab
Gene Symbol Or14a257
Ensembl Gene ENSMUSG00000062878
Gene Name olfactory receptor family 14 subfamily A member 257
Synonyms GA_x6K02T2NHDJ-9619796-9620794, Olfr298, MOR219-4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R4500 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 86137759-86138757 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 86138127 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 211 (C211S)
Ref Sequence ENSEMBL: ENSMUSP00000150228 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077800] [ENSMUST00000213223] [ENSMUST00000216968] [ENSMUST00000217110]
AlphaFold Q7TS06
Predicted Effect probably benign
Transcript: ENSMUST00000077800
AA Change: C211S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000076973
Gene: ENSMUSG00000062878
AA Change: C211S

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 4.2e-37 PFAM
Pfam:7tm_1 39 288 8.4e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213223
AA Change: C211S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000216968
AA Change: C211S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000217110
AA Change: C211S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310034C09Rik T A 16: 88,556,429 (GRCm39) C214* probably null Het
Ap3s1 T C 18: 46,923,067 (GRCm39) V186A possibly damaging Het
Dennd4a G A 9: 64,817,405 (GRCm39) D1680N possibly damaging Het
Dpep2 T C 8: 106,712,114 (GRCm39) E282G probably benign Het
Duxf4 C T 10: 58,071,528 (GRCm39) A229T possibly damaging Het
Fam83d A G 2: 158,627,187 (GRCm39) E292G probably benign Het
Hook1 T C 4: 95,881,437 (GRCm39) probably null Het
Iqca1l T C 5: 24,753,275 (GRCm39) D459G possibly damaging Het
Klhl18 C T 9: 110,259,034 (GRCm39) G445S probably damaging Het
Or51a43 A G 7: 103,717,402 (GRCm39) S279P probably damaging Het
Pias3 C T 3: 96,608,734 (GRCm39) R259W probably damaging Het
Prr11 T G 11: 86,989,533 (GRCm39) K279N possibly damaging Het
Sugp1 T C 8: 70,509,038 (GRCm39) S104P probably benign Het
Tmem239 A G 2: 130,249,077 (GRCm39) Y145C possibly damaging Het
Uchl4 T C 9: 64,143,163 (GRCm39) F215L possibly damaging Het
Usp5 C G 6: 124,799,593 (GRCm39) K318N possibly damaging Het
Usp7 C T 16: 8,513,759 (GRCm39) E785K possibly damaging Het
Vmn2r66 G A 7: 84,657,162 (GRCm39) A81V probably damaging Het
Other mutations in Or14a257
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01517:Or14a257 APN 7 86,138,765 (GRCm39) utr 5 prime probably benign
IGL01603:Or14a257 APN 7 86,138,139 (GRCm39) missense possibly damaging 0.92
IGL02389:Or14a257 APN 7 86,138,336 (GRCm39) missense probably damaging 0.98
IGL03146:Or14a257 APN 7 86,138,402 (GRCm39) missense probably damaging 1.00
R0680:Or14a257 UTSW 7 86,138,545 (GRCm39) missense probably benign
R0834:Or14a257 UTSW 7 86,138,698 (GRCm39) missense probably benign 0.11
R1132:Or14a257 UTSW 7 86,138,425 (GRCm39) missense probably benign 0.03
R1519:Or14a257 UTSW 7 86,138,333 (GRCm39) missense probably damaging 0.99
R1881:Or14a257 UTSW 7 86,138,646 (GRCm39) missense probably benign 0.01
R2170:Or14a257 UTSW 7 86,137,778 (GRCm39) missense probably benign 0.03
R4524:Or14a257 UTSW 7 86,138,034 (GRCm39) missense probably damaging 1.00
R5184:Or14a257 UTSW 7 86,138,499 (GRCm39) frame shift probably null
R5521:Or14a257 UTSW 7 86,137,839 (GRCm39) missense probably benign 0.08
R7448:Or14a257 UTSW 7 86,138,417 (GRCm39) missense probably damaging 1.00
R7643:Or14a257 UTSW 7 86,138,776 (GRCm39) critical splice acceptor site probably null
R7688:Or14a257 UTSW 7 86,138,183 (GRCm39) missense probably benign 0.01
R8104:Or14a257 UTSW 7 86,138,231 (GRCm39) missense probably damaging 1.00
R8732:Or14a257 UTSW 7 86,138,061 (GRCm39) missense probably damaging 0.96
R8973:Or14a257 UTSW 7 86,138,487 (GRCm39) missense probably damaging 1.00
R9235:Or14a257 UTSW 7 86,138,306 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CAGGATTAAGTGCTGGAGGC -3'
(R):5'- CTTTGGAGCTTTATACACAGCTGG -3'

Sequencing Primer
(F):5'- CAGCCTGTCTGAAATTGATGGTAC -3'
(R):5'- ATACACAGCTGGCACATTTTCCATG -3'
Posted On 2015-07-21