Incidental Mutation 'IGL01288:Olfr556'
ID 72808
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr556
Ensembl Gene ENSMUSG00000073969
Gene Name olfactory receptor 556
Synonyms MOR41-1, GA_x6K02T2PBJ9-5386601-5387575
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # IGL01288
Quality Score
Status
Chromosome 7
Chromosomal Location 102664899-102673270 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102670651 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 244 (T244A)
Ref Sequence ENSEMBL: ENSMUSP00000150289 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098219] [ENSMUST00000213485] [ENSMUST00000217526]
AlphaFold E9Q549
Predicted Effect probably damaging
Transcript: ENSMUST00000098219
AA Change: T244A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095822
Gene: ENSMUSG00000073969
AA Change: T244A

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: T244A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000217526
AA Change: T244A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsf3 G T 8: 122,780,642 probably benign Het
Acsl3 G T 1: 78,699,759 W490L possibly damaging Het
Ahnak A G 19: 9,002,494 I381V possibly damaging Het
Aox2 A G 1: 58,294,407 Y261C probably damaging Het
Ap3m2 T C 8: 22,803,915 T40A probably benign Het
Arfgef1 C T 1: 10,213,211 A158T possibly damaging Het
Atp1a4 T C 1: 172,257,907 E43G possibly damaging Het
Cog5 C T 12: 31,886,206 T584I probably benign Het
Cpa1 G A 6: 30,640,583 V75M probably damaging Het
Cul7 A G 17: 46,657,807 probably benign Het
Dopey2 T C 16: 93,739,293 I93T possibly damaging Het
Dyrk2 T C 10: 118,860,699 Y218C probably damaging Het
Efr3b T C 12: 3,982,865 Y164C probably damaging Het
Etos1 C A 7: 130,772,205 probably benign Het
Fam13a A G 6: 58,956,727 Y293H probably damaging Het
Fam35a A T 14: 34,259,643 Y513N probably benign Het
Gde1 A T 7: 118,691,640 V154D possibly damaging Het
Glyat A G 19: 12,650,355 T105A possibly damaging Het
Il1f8 A T 2: 24,159,913 I179L probably benign Het
Kif21b C T 1: 136,172,184 T1492M probably benign Het
Kmt2d G T 15: 98,865,044 P282T probably damaging Het
Lgi4 A G 7: 31,069,043 E489G probably benign Het
Lipn A C 19: 34,079,035 E260D probably benign Het
Mdn1 A G 4: 32,730,864 D2911G probably benign Het
Nab2 C T 10: 127,665,109 R38Q probably damaging Het
Olfr1101 C A 2: 86,988,254 M307I probably benign Het
Olfr1184 T A 2: 88,487,248 I172K probably damaging Het
Olfr1231 A T 2: 89,303,472 V40E possibly damaging Het
Olfr395 A T 11: 73,907,313 Y60N probably damaging Het
Olfr523 T C 7: 140,176,615 L165P probably damaging Het
Osbpl6 T C 2: 76,564,823 S337P probably damaging Het
Phf8 T C X: 151,547,925 probably null Het
Pik3c2b C T 1: 133,094,805 H1162Y probably damaging Het
Plek2 T C 12: 78,894,953 D134G possibly damaging Het
Rnf139 G A 15: 58,899,179 R351H probably damaging Het
Skint5 T C 4: 113,524,135 probably benign Het
Slc12a9 C T 5: 137,330,938 probably null Het
St5 A G 7: 109,539,822 I668T probably damaging Het
Stradb C A 1: 58,992,301 H216N possibly damaging Het
Tex15 C T 8: 33,571,384 H281Y probably benign Het
Tg G T 15: 66,736,276 V237L possibly damaging Het
Tns1 T A 1: 73,953,810 T570S probably damaging Het
Tpm1 C T 9: 67,036,055 R105H probably damaging Het
Wdfy3 G T 5: 101,901,991 probably null Het
Zc3h12c A G 9: 52,117,651 probably benign Het
Zmynd8 T A 2: 165,812,814 S584C probably damaging Het
Other mutations in Olfr556
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01662:Olfr556 APN 7 102670720 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
R7244:Olfr556 UTSW 7 102669839 start gained probably benign
R7300:Olfr556 UTSW 7 102670210 missense probably benign 0.01
R8499:Olfr556 UTSW 7 102670805 missense probably damaging 0.97
R9620:Olfr556 UTSW 7 102670804 missense possibly damaging 0.95
R9694:Olfr556 UTSW 7 102670804 missense possibly damaging 0.95
Posted On 2013-10-07