Incidental Mutation 'IGL00229:Olfr1472'
ID 2054
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1472
Ensembl Gene ENSMUSG00000095189
Gene Name olfactory receptor 1472
Synonyms GA_x6K02T2RE5P-3787124-3786180, MOR202-16
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.154) question?
Stock # IGL00229
Quality Score
Status
Chromosome 19
Chromosomal Location 13453280-13456086 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13453840 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 226 (M226V)
Ref Sequence ENSEMBL: ENSMUSP00000093915 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077501] [ENSMUST00000096201]
AlphaFold Q7TQQ9
Predicted Effect possibly damaging
Transcript: ENSMUST00000077501
AA Change: M226V

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000076707
Gene: ENSMUSG00000095189
AA Change: M226V

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 2.4e-51 PFAM
Pfam:7TM_GPCR_Srsx 33 303 5.2e-8 PFAM
Pfam:7tm_1 39 288 6.9e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000096201
AA Change: M226V

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000093915
Gene: ENSMUSG00000095189
AA Change: M226V

DomainStartEndE-ValueType
Pfam:7tm_4 30 306 3.9e-53 PFAM
Pfam:7TM_GPCR_Srsx 34 304 2.6e-6 PFAM
Pfam:7tm_1 40 289 1.2e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213561
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik A G 13: 63,199,500 probably benign Het
9030624J02Rik T A 7: 118,804,191 probably benign Het
Abca4 A G 3: 122,170,954 T929A probably damaging Het
Adam6b G A 12: 113,491,393 R610H probably damaging Het
Adamts12 T A 15: 11,311,599 M1314K probably benign Het
Alg6 T A 4: 99,753,054 F152I probably damaging Het
Arid5b A G 10: 68,128,975 S289P probably damaging Het
Axin1 T C 17: 26,194,072 F780L probably damaging Het
C87499 A G 4: 88,629,053 I214T probably damaging Het
C9 C T 15: 6,483,231 S278L possibly damaging Het
Calr4 A T 4: 109,244,115 I65F probably damaging Het
Cdh23 A G 10: 60,523,548 V260A probably benign Het
Ddx25 T C 9: 35,543,595 probably benign Het
Dppa4 A G 16: 48,291,083 T92A possibly damaging Het
Ercc5 T C 1: 44,163,898 Y232H probably damaging Het
Exoc4 A G 6: 33,918,399 probably null Het
Fam149a A G 8: 45,351,786 V253A probably damaging Het
Fam209 C T 2: 172,474,182 T159I probably damaging Het
Gcfc2 A T 6: 81,936,015 N265I probably damaging Het
Glud1 T C 14: 34,336,130 V366A probably benign Het
Hdac10 T C 15: 89,128,442 T3A probably damaging Het
Ifnar1 T C 16: 91,489,782 S54P probably damaging Het
Itpr2 T C 6: 146,144,185 Y2561C probably damaging Het
Klhl30 A G 1: 91,354,157 E160G possibly damaging Het
Kmt2d A T 15: 98,862,333 S1015T unknown Het
Lactb2 A G 1: 13,660,374 M26T probably damaging Het
Lactbl1 A T 4: 136,631,051 D111V probably damaging Het
Lig4 T C 8: 9,972,775 Y335C probably damaging Het
Lrrc8e T A 8: 4,235,921 D715E probably benign Het
Med6 A T 12: 81,579,574 V142D possibly damaging Het
Men1 G A 19: 6,337,207 probably null Het
Mettl13 A G 1: 162,535,865 V600A possibly damaging Het
Mpdz A T 4: 81,310,224 C1314* probably null Het
Nbeal2 A G 9: 110,635,869 V1009A probably damaging Het
Nmur2 A G 11: 56,040,777 L36P probably damaging Het
Nudt2 T A 4: 41,480,474 L119Q probably damaging Het
Osbpl3 C T 6: 50,323,068 E519K probably damaging Het
Pak6 A T 2: 118,689,845 T106S possibly damaging Het
Pggt1b T G 18: 46,280,719 Q34P probably benign Het
Phactr4 T C 4: 132,370,992 T322A possibly damaging Het
Plekhj1 T C 10: 80,796,602 probably null Het
Pnpt1 T C 11: 29,154,217 probably null Het
Prr14l T C 5: 32,830,676 I492V probably benign Het
Ranbp2 C A 10: 58,477,256 A1266E probably damaging Het
Riok3 G A 18: 12,137,020 D140N probably damaging Het
Rsph4a G A 10: 33,914,343 E643K probably damaging Het
Scara3 T G 14: 65,933,121 E103A probably benign Het
Sgk3 T C 1: 9,868,384 V33A probably damaging Het
Slc38a4 A G 15: 96,999,494 F480S probably damaging Het
Slc44a1 G A 4: 53,543,571 V372M probably damaging Het
Slc9a2 A G 1: 40,767,737 Y728C probably benign Het
Sox4 C A 13: 28,952,973 G17W probably damaging Het
Spidr A T 16: 15,895,578 L847Q probably damaging Het
Sptb A G 12: 76,620,753 S857P probably benign Het
Syde1 A G 10: 78,585,809 V636A probably damaging Het
Syna A G 5: 134,559,717 L126P possibly damaging Het
Taar2 A G 10: 23,941,368 T269A possibly damaging Het
Tapbp C T 17: 33,925,704 T258I probably damaging Het
Tcf20 T A 15: 82,857,142 Q36L possibly damaging Het
Tmem131l A T 3: 83,942,500 M260K probably damaging Het
Tnc T A 4: 64,016,824 probably benign Het
Ugp2 T A 11: 21,354,345 E27D probably benign Het
Wdr27 A T 17: 14,928,310 C140* probably null Het
Wnt2b T C 3: 104,953,133 T153A possibly damaging Het
Xirp2 A T 2: 67,513,375 T1987S probably benign Het
Zfp36l1 C A 12: 80,110,464 G48C probably damaging Het
Zfp474 A T 18: 52,638,493 I73F possibly damaging Het
Zfp790 T A 7: 29,828,563 F224L probably benign Het
Other mutations in Olfr1472
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01755:Olfr1472 APN 19 13453815 missense probably damaging 1.00
IGL01885:Olfr1472 APN 19 13454085 missense probably benign 0.00
IGL02366:Olfr1472 APN 19 13454127 missense probably damaging 1.00
IGL03074:Olfr1472 APN 19 13454053 missense probably damaging 0.98
R0592:Olfr1472 UTSW 19 13453705 missense probably benign 0.00
R1085:Olfr1472 UTSW 19 13454230 missense possibly damaging 0.75
R4207:Olfr1472 UTSW 19 13454471 missense probably benign 0.15
R4856:Olfr1472 UTSW 19 13454521 splice site probably null
R4886:Olfr1472 UTSW 19 13454521 splice site probably null
R5061:Olfr1472 UTSW 19 13453985 nonsense probably null
R5167:Olfr1472 UTSW 19 13454377 missense probably damaging 1.00
R5509:Olfr1472 UTSW 19 13453968 missense probably damaging 1.00
R5586:Olfr1472 UTSW 19 13454382 missense probably benign 0.02
R5987:Olfr1472 UTSW 19 13453960 missense possibly damaging 0.57
R6631:Olfr1472 UTSW 19 13453821 missense probably benign 0.00
R7976:Olfr1472 UTSW 19 13454199 missense probably benign
Posted On 2011-12-09