Incidental Mutation 'IGL01662:Olfr556'
ID103185
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr556
Ensembl Gene ENSMUSG00000073969
Gene Nameolfactory receptor 556
SynonymsMOR41-1, GA_x6K02T2PBJ9-5386601-5387575
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.118) question?
Stock #IGL01662
Quality Score
Status
Chromosome7
Chromosomal Location102664899-102673270 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 102670720 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 267 (W267R)
Ref Sequence ENSEMBL: ENSMUSP00000150289 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098219] [ENSMUST00000213485] [ENSMUST00000217526]
Predicted Effect probably damaging
Transcript: ENSMUST00000098219
AA Change: W267R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095822
Gene: ENSMUSG00000073969
AA Change: W267R

DomainStartEndE-ValueType
Pfam:7tm_4 35 315 1.2e-85 PFAM
Pfam:7TM_GPCR_Srsx 39 192 1.5e-13 PFAM
Pfam:7tm_1 45 297 3.2e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213485
AA Change: W267R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000217526
AA Change: W267R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm5 A T 7: 119,538,288 I402F probably damaging Het
Acvr2b T C 9: 119,432,504 Y388H probably damaging Het
Adh1 G A 3: 138,282,751 D162N possibly damaging Het
C6 G T 15: 4,792,754 R585I probably damaging Het
Ccdc169 T A 3: 55,163,311 probably null Het
Cdh13 T A 8: 118,675,177 M106K probably damaging Het
Cep78 C T 19: 15,960,995 E530K probably damaging Het
Cyfip1 T A 7: 55,896,739 L533Q probably damaging Het
Etl4 T C 2: 20,806,649 V1181A probably benign Het
Fam105a C T 15: 27,658,065 D290N probably damaging Het
Fam122a A G 19: 24,476,584 V258A probably benign Het
Galnt7 T G 8: 57,531,735 probably benign Het
Gm11595 G A 11: 99,772,672 R61C unknown Het
Gucy1a1 T A 3: 82,109,253 I143F possibly damaging Het
Hmcn1 T C 1: 150,737,299 N1410D possibly damaging Het
Ltbp2 G A 12: 84,809,246 T741I probably benign Het
Mdc1 T C 17: 35,852,505 S982P probably benign Het
Mfsd4b2 A G 10: 39,922,197 probably benign Het
Mrgprb5 T G 7: 48,168,424 I188L probably benign Het
Naip6 T A 13: 100,300,354 S554C probably damaging Het
Nav2 A G 7: 49,571,209 N1715D probably damaging Het
Nav3 A T 10: 109,769,258 S985T possibly damaging Het
Nme7 A G 1: 164,328,297 Q22R probably benign Het
Ppp1r9a A G 6: 5,115,322 E815G probably damaging Het
Ppp2r2c T A 5: 36,926,400 I95N probably damaging Het
Ppp4r4 G A 12: 103,602,966 E717K possibly damaging Het
Prdm2 A G 4: 143,133,568 S1051P possibly damaging Het
Rnf214 T C 9: 45,899,786 D193G probably damaging Het
Sirpb1b G T 3: 15,543,184 T167K probably damaging Het
Slc16a3 C A 11: 120,956,706 S240* probably null Het
Snx14 T A 9: 88,385,838 probably benign Het
Sorbs2 A G 8: 45,803,829 probably benign Het
Stk-ps2 A T 1: 46,029,362 noncoding transcript Het
Taar7b A T 10: 23,999,976 D13V probably benign Het
Trp53bp1 T C 2: 121,236,025 E740G probably damaging Het
Unc79 C T 12: 103,149,020 A2054V possibly damaging Het
Zfp106 A G 2: 120,523,553 V211A probably benign Het
Zfp112 A G 7: 24,125,954 H449R probably benign Het
Other mutations in Olfr556
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01288:Olfr556 APN 7 102670651 missense probably damaging 1.00
IGL02989:Olfr556 APN 7 102670444 missense possibly damaging 0.50
R0194:Olfr556 UTSW 7 102670199 missense probably benign 0.01
R1670:Olfr556 UTSW 7 102670402 missense possibly damaging 0.72
R1680:Olfr556 UTSW 7 102670733 missense possibly damaging 0.82
R1711:Olfr556 UTSW 7 102670162 missense probably damaging 0.98
R1768:Olfr556 UTSW 7 102670301 missense probably damaging 1.00
R1950:Olfr556 UTSW 7 102670477 missense probably benign 0.03
R4452:Olfr556 UTSW 7 102670049 missense probably benign 0.00
R5564:Olfr556 UTSW 7 102670226 missense probably damaging 1.00
R6623:Olfr556 UTSW 7 102670034 missense possibly damaging 0.90
R7040:Olfr556 UTSW 7 102670730 missense probably benign 0.00
Posted On2014-01-21