Incidental Mutation 'R9620:Olfr556'
ID 724714
Institutional Source Beutler Lab
Gene Symbol Olfr556
Ensembl Gene ENSMUSG00000073969
Gene Name olfactory receptor 556
Synonyms MOR41-1, GA_x6K02T2PBJ9-5386601-5387575
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # R9620 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 102664899-102673270 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102670804 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 295 (I295F)
Ref Sequence ENSEMBL: ENSMUSP00000149041 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098219] [ENSMUST00000213485] [ENSMUST00000217526]
AlphaFold E9Q549
Predicted Effect possibly damaging
Transcript: ENSMUST00000098219
AA Change: I295F

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000095822
Gene: ENSMUSG00000073969
AA Change: I295F

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 possibly damaging
Transcript: ENSMUST00000213485
AA Change: I295F

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217526
AA Change: I295F

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630095E13Rik A G 9: 36,637,202 probably null Het
Abhd3 G T 18: 10,704,605 T151K possibly damaging Het
Acsf2 C T 11: 94,572,586 W130* probably null Het
Aldh16a1 G A 7: 45,147,989 R132* probably null Het
Amer3 C T 1: 34,588,962 P761S probably benign Het
Amotl1 G T 9: 14,548,673 D886E probably damaging Het
Cacna1s T C 1: 136,108,171 F1383S probably damaging Het
Casc4 T C 2: 121,906,761 V261A probably benign Het
Col14a1 T A 15: 55,362,385 V148E unknown Het
Col9a2 T A 4: 121,053,206 probably null Het
Cyp2a5 T A 7: 26,837,211 M205K possibly damaging Het
Dcst2 A T 3: 89,370,518 Q466L possibly damaging Het
Ecel1 T C 1: 87,153,131 I350V possibly damaging Het
Enthd1 G A 15: 80,452,700 T511I probably benign Het
Exoc6b T A 6: 85,011,320 K92* probably null Het
Fam181a T G 12: 103,316,332 Y165* probably null Het
Fam205c TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG 4: 42,871,823 probably benign Het
Fam71d A C 12: 78,715,303 D247A probably damaging Het
Fbxo34 A G 14: 47,531,268 Y746C probably damaging Het
Fgfr4 T A 13: 55,161,181 S372T possibly damaging Het
Fmo1 A G 1: 162,833,821 F298L probably benign Het
Gad1 A C 2: 70,574,276 D170A possibly damaging Het
Golgb1 T C 16: 36,919,449 S2758P probably benign Het
H2afv A T 11: 6,429,094 probably null Het
Ilkap A G 1: 91,376,251 C163R Het
Krt9 A T 11: 100,188,360 D735E unknown Het
Lipo3 A T 19: 33,582,229 C80* probably null Het
Lpcat3 C T 6: 124,703,580 P478L probably damaging Het
Luc7l3 G A 11: 94,321,719 R24C unknown Het
Mafa T A 15: 75,747,312 H204L probably benign Het
Mapk10 A C 5: 102,966,607 V305G probably damaging Het
Mgat1 T C 11: 49,261,295 F202L probably benign Het
Micalcl A T 7: 112,381,196 T126S probably benign Het
Mill1 G A 7: 18,263,102 R206H probably benign Het
Nlrc5 A T 8: 94,476,406 Y378F probably benign Het
Nlrp9a G T 7: 26,551,044 R78L probably damaging Het
Olfr1358 G T 10: 78,520,294 A229S probably benign Het
Olfr150 A T 9: 39,736,991 M59L Het
Orc6 A T 8: 85,299,801 probably benign Het
Pcdhgb5 C T 18: 37,731,433 Q94* probably null Het
Pcnx A G 12: 81,950,186 D952G probably damaging Het
Ppfia2 A T 10: 106,913,658 H1135L Het
Prmt2 A T 10: 76,225,379 I91N probably damaging Het
Ptprm A G 17: 66,809,489 Y932H probably damaging Het
Qrich2 T C 11: 116,447,120 K154R probably damaging Het
Rapgef4 A G 2: 72,205,707 T515A probably benign Het
Rgmb G A 17: 15,821,017 R103* probably null Het
Ripk1 T G 13: 34,026,823 S334A possibly damaging Het
Rnf5 C T 17: 34,601,747 G147S possibly damaging Het
Ryr1 T C 7: 29,015,713 Y4662C unknown Het
Secisbp2l A G 2: 125,747,474 M718T probably damaging Het
Slc16a6 T C 11: 109,463,496 T100A probably benign Het
Slc27a6 T A 18: 58,609,815 M525K probably damaging Het
Slco2a1 G C 9: 103,084,866 C579S probably damaging Het
Snx14 A G 9: 88,381,741 S864P probably damaging Het
Sptbn2 T C 19: 4,750,507 L2250P probably damaging Het
Tlr6 A T 5: 64,954,803 S254T possibly damaging Het
Trap1 A T 16: 4,040,219 Y675* probably null Het
Ttc9b C A 7: 27,654,087 A54E probably damaging Het
Unc45a A C 7: 80,325,655 Y934D probably damaging Het
Usp17ld A G 7: 103,250,972 L251P possibly damaging Het
Usp42 A G 5: 143,717,399 V489A probably damaging Het
Vars A G 17: 35,016,025 T1277A unknown Het
Vmn2r117 A G 17: 23,478,476 S81P probably damaging Het
Vmn2r69 T A 7: 85,412,296 I157F probably benign Het
Zfp697 A G 3: 98,427,866 S316G probably damaging Het
Zfp729b T A 13: 67,591,668 H826L probably damaging Het
Other mutations in Olfr556
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01288:Olfr556 APN 7 102670651 missense probably damaging 1.00
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
R9694:Olfr556 UTSW 7 102670804 missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- GCACAGTGGAAGGCTTTGAG -3'
(R):5'- TACAGTCACTTCAGTCCAAGTCTC -3'

Sequencing Primer
(F):5'- CACAGTGGAAGGCTTTGAGTACATG -3'
(R):5'- TCAGTCCAAGTCTCCTAAGAAGTGG -3'
Posted On 2022-09-12