Incidental Mutation 'IGL01603:Or14a257'
ID 92192
Institutional Source Australian Phenomics Network (link to record)
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: 0.137) question?
Stock # IGL01603
Quality Score
Status
Chromosome 7
Chromosomal Location 86137759-86138757 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86138139 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 207 (S207P)
Ref Sequence ENSEMBL: ENSMUSP00000150228 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077800] [ENSMUST00000213223] [ENSMUST00000216968] [ENSMUST00000217110]
AlphaFold Q7TS06
Predicted Effect possibly damaging
Transcript: ENSMUST00000077800
AA Change: S207P

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000076973
Gene: ENSMUSG00000062878
AA Change: S207P

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 4.2e-37 PFAM
Pfam:7tm_1 39 288 8.4e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213223
AA Change: S207P

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216968
AA Change: S207P

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217110
AA Change: S207P

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap8l T A 17: 32,564,327 (GRCm39) D20V probably damaging Het
Akr1c12 A G 13: 4,322,926 (GRCm39) probably null Het
Baiap2l1 C T 5: 144,217,625 (GRCm39) probably benign Het
Baz2a T C 10: 127,947,037 (GRCm39) F184L probably damaging Het
Cadps T C 14: 12,454,154 (GRCm38) probably benign Het
Cbr4 A T 8: 61,956,245 (GRCm39) *237Y probably null Het
Cln3 T G 7: 126,174,526 (GRCm39) N275T probably benign Het
Csf1r A G 18: 61,262,373 (GRCm39) E823G probably damaging Het
Ctr9 C A 7: 110,648,538 (GRCm39) A726D probably damaging Het
Def6 C T 17: 28,438,714 (GRCm39) probably benign Het
Dock4 T A 12: 40,743,030 (GRCm39) I395N probably damaging Het
Eln T C 5: 134,747,894 (GRCm39) probably benign Het
Fasn A T 11: 120,706,891 (GRCm39) H920Q probably damaging Het
Glb1l3 A G 9: 26,770,832 (GRCm39) I78T probably damaging Het
Gm7275 A T 16: 47,893,942 (GRCm39) noncoding transcript Het
Grm5 A C 7: 87,252,386 (GRCm39) Y212S probably damaging Het
Gtf2ird2 T C 5: 134,231,129 (GRCm39) probably benign Het
Gucy1b1 A G 3: 81,942,175 (GRCm39) V528A probably damaging Het
Hspg2 G A 4: 137,280,114 (GRCm39) A3168T probably damaging Het
Kcnj6 A G 16: 94,634,058 (GRCm39) S18P probably benign Het
Kcnq5 T A 1: 21,575,564 (GRCm39) K294I possibly damaging Het
Lama4 G A 10: 38,941,642 (GRCm39) G693E possibly damaging Het
Ldb1 A T 19: 46,024,014 (GRCm39) I124K probably damaging Het
Lrrfip1 C T 1: 91,043,635 (GRCm39) T680I probably benign Het
Lypd10 T A 7: 24,411,954 (GRCm39) W45R probably damaging Het
Map3k19 T A 1: 127,758,010 (GRCm39) D186V possibly damaging Het
Mrgprx2 T C 7: 48,132,374 (GRCm39) Y148C probably damaging Het
Muc4 G A 16: 32,569,473 (GRCm39) A178T probably benign Het
Mylip A C 13: 45,543,479 (GRCm39) E16A probably benign Het
Nek9 A G 12: 85,352,379 (GRCm39) F828S probably damaging Het
Obscn A G 11: 58,928,631 (GRCm39) F6012L probably damaging Het
Or2o1 A C 11: 49,051,438 (GRCm39) D199A probably damaging Het
Or5p54 A G 7: 107,554,580 (GRCm39) Y244C possibly damaging Het
Pcid2 T A 8: 13,129,936 (GRCm39) K273N possibly damaging Het
Plekhm3 C T 1: 64,960,991 (GRCm39) D422N probably damaging Het
Prr12 T C 7: 44,692,909 (GRCm39) H1541R probably damaging Het
Psg26 A C 7: 18,209,028 (GRCm39) V460G probably damaging Het
Rbmxl1 G A 8: 79,232,459 (GRCm39) R295* probably null Het
Sbf1 A T 15: 89,187,481 (GRCm39) V690E probably damaging Het
Serpinb2 T A 1: 107,449,910 (GRCm39) S108T probably benign Het
Sin3b T C 8: 73,476,692 (GRCm39) Y709H probably damaging Het
Slc17a5 A G 9: 78,481,989 (GRCm39) W160R probably damaging Het
Spef2 T A 15: 9,704,466 (GRCm39) D449V probably damaging Het
Tas2r108 C A 6: 40,470,720 (GRCm39) N65K possibly damaging Het
Tex15 T A 8: 34,063,575 (GRCm39) F1002I possibly damaging Het
Trpm5 G A 7: 142,629,338 (GRCm39) S942L probably benign Het
Tspan5 T C 3: 138,596,517 (GRCm39) S52P probably damaging Het
Uqcrfs1 T C 13: 30,725,181 (GRCm39) T120A probably benign Het
Usp6nl T C 2: 6,428,246 (GRCm39) F193L probably damaging Het
Vmn2r26 T A 6: 124,030,833 (GRCm39) C523S probably damaging Het
Wfdc2 C T 2: 164,405,979 (GRCm39) P92S probably benign Het
Zbtb18 A T 1: 177,275,549 (GRCm39) H303L probably benign Het
Zfp174 A T 16: 3,672,153 (GRCm39) H234L probably benign Het
Zmynd12 T C 4: 119,299,117 (GRCm39) probably null Het
Other mutations in Or14a257
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01517:Or14a257 APN 7 86,138,765 (GRCm39) utr 5 prime probably benign
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
R4500:Or14a257 UTSW 7 86,138,127 (GRCm39) missense probably benign 0.00
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
Posted On 2013-12-09