Incidental Mutation 'R6843:Or1i2'
ID 534630
Institutional Source Beutler Lab
Gene Symbol Or1i2
Ensembl Gene ENSMUSG00000071185
Gene Name olfactory receptor family 1 subfamily I member 1
Synonyms GA_x6K02T2QGN0-3196801-3197742, MOR128-3, MOR128-4, Olfr1357
MMRRC Submission 044949-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # R6843 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 78447503-78453908 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78447891 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 195 (N195D)
Ref Sequence ENSEMBL: ENSMUSP00000150167 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095473] [ENSMUST00000203305] [ENSMUST00000205085] [ENSMUST00000213877]
AlphaFold Q7TQU7
Predicted Effect probably damaging
Transcript: ENSMUST00000095473
AA Change: N195D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000093127
Gene: ENSMUSG00000071185
AA Change: N195D

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1.7e-50 PFAM
Pfam:7TM_GPCR_Srsx 35 215 2e-11 PFAM
Pfam:7tm_1 41 290 2.6e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000203305
AA Change: N195D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145032
Gene: ENSMUSG00000071185
AA Change: N195D

DomainStartEndE-ValueType
Pfam:7tm_4 31 235 1.3e-36 PFAM
Pfam:7TM_GPCR_Srsx 35 215 7.7e-11 PFAM
Pfam:7tm_1 41 234 3.4e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000205085
AA Change: N195D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145185
Gene: ENSMUSG00000071185
AA Change: N195D

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1.7e-50 PFAM
Pfam:7TM_GPCR_Srsx 35 215 2e-11 PFAM
Pfam:7tm_1 41 290 2.6e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213877
AA Change: N195D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,615,360 (GRCm39) Q78L probably benign Het
Akr1c21 A G 13: 4,625,213 (GRCm39) H48R probably damaging Het
Anks1b T A 10: 90,784,460 (GRCm39) S1143T probably damaging Het
Apip T G 2: 102,922,834 (GRCm39) F217L probably benign Het
Ash1l T A 3: 88,892,695 (GRCm39) Y1525N probably damaging Het
Bcl2l13 G A 6: 120,825,578 (GRCm39) probably null Het
Cep85 C G 4: 133,883,167 (GRCm39) A241P probably benign Het
Clk4 T G 11: 51,167,076 (GRCm39) probably null Het
Cnr2 C T 4: 135,644,900 (GRCm39) P326L probably benign Het
Cryaa A G 17: 31,897,147 (GRCm39) D58G possibly damaging Het
Crybg3 G A 16: 59,380,159 (GRCm39) T365M probably benign Het
Csmd2 A G 4: 128,357,587 (GRCm39) N1683D probably benign Het
Dbx2 T G 15: 95,552,340 (GRCm39) I102L possibly damaging Het
Dll4 A T 2: 119,156,475 (GRCm39) probably benign Het
Epb42 T A 2: 120,858,166 (GRCm39) Y264F possibly damaging Het
Exoc3l T A 8: 106,016,729 (GRCm39) H695L probably benign Het
Fhip1a G A 3: 85,580,352 (GRCm39) P618S probably damaging Het
Ghsr A C 3: 27,426,676 (GRCm39) D244A probably benign Het
Gm9195 A G 14: 72,678,651 (GRCm39) Y2268H possibly damaging Het
Hdac1 A G 4: 129,436,383 (GRCm39) Y14H probably damaging Het
Hdac3 A T 18: 38,075,007 (GRCm39) Y282N probably benign Het
Heg1 T A 16: 33,539,896 (GRCm39) N285K probably benign Het
Igkv4-90 A G 6: 68,784,670 (GRCm39) F8S possibly damaging Het
Map2k1 A T 9: 64,094,973 (GRCm39) D336E probably damaging Het
Map4k2 A T 19: 6,403,477 (GRCm39) I796F probably damaging Het
Mapk13 T A 17: 28,994,427 (GRCm39) probably null Het
Mprip A G 11: 59,650,554 (GRCm39) I1419M possibly damaging Het
Nrap T C 19: 56,368,651 (GRCm39) E255G probably damaging Het
Oprl1 A G 2: 181,357,547 (GRCm39) E11G probably damaging Het
Or4f14 T C 2: 111,743,260 (GRCm39) N5S probably damaging Het
Or52b3 A G 7: 102,203,928 (GRCm39) I146V probably benign Het
Or5b99 G T 19: 12,976,362 (GRCm39) C4F probably benign Het
Or6c209 A G 10: 129,483,048 (GRCm39) D17G possibly damaging Het
Palmd T A 3: 116,717,864 (GRCm39) D211V probably damaging Het
Pcdhga11 A G 18: 37,889,378 (GRCm39) N129D probably damaging Het
Plekha6 T A 1: 133,202,616 (GRCm39) M359K probably damaging Het
Plekha7 G T 7: 115,742,555 (GRCm39) H756Q probably benign Het
Ppfibp2 C T 7: 107,326,938 (GRCm39) P441S probably benign Het
Ptprk T C 10: 28,467,978 (GRCm39) I1373T possibly damaging Het
Serpinb9g G T 13: 33,676,900 (GRCm39) L227F probably damaging Het
Snapc4 C A 2: 26,263,611 (GRCm39) A11S probably benign Het
Sqor T C 2: 122,626,900 (GRCm39) V7A probably benign Het
Sqor G T 2: 122,651,215 (GRCm39) G437V probably damaging Het
Srrm3 T C 5: 135,881,135 (GRCm39) V145A probably benign Het
Stx1b G A 7: 127,414,151 (GRCm39) Q72* probably null Het
Syt7 A G 19: 10,399,135 (GRCm39) D77G probably damaging Het
Tvp23a G A 16: 10,264,884 (GRCm39) A9V probably benign Het
Vmn1r66 T A 7: 10,008,692 (GRCm39) I114F probably damaging Het
Vmn2r80 C A 10: 79,005,502 (GRCm39) Q380K probably benign Het
Xdh C T 17: 74,230,125 (GRCm39) E269K probably damaging Het
Zfp932 T C 5: 110,156,581 (GRCm39) M92T probably benign Het
Other mutations in Or1i2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01609:Or1i2 APN 10 78,447,960 (GRCm39) missense probably benign 0.02
IGL02201:Or1i2 APN 10 78,448,104 (GRCm39) missense probably damaging 0.96
IGL03029:Or1i2 APN 10 78,447,792 (GRCm39) missense probably benign 0.14
IGL03094:Or1i2 APN 10 78,447,953 (GRCm39) missense possibly damaging 0.80
R0207:Or1i2 UTSW 10 78,447,705 (GRCm39) missense probably benign
R0563:Or1i2 UTSW 10 78,448,467 (GRCm39) missense probably benign
R0745:Or1i2 UTSW 10 78,447,956 (GRCm39) missense probably benign 0.02
R1607:Or1i2 UTSW 10 78,447,974 (GRCm39) missense probably benign 0.08
R2419:Or1i2 UTSW 10 78,448,221 (GRCm39) missense probably benign 0.34
R4198:Or1i2 UTSW 10 78,447,901 (GRCm39) missense possibly damaging 0.69
R4199:Or1i2 UTSW 10 78,447,901 (GRCm39) missense possibly damaging 0.69
R4200:Or1i2 UTSW 10 78,447,901 (GRCm39) missense possibly damaging 0.69
R4619:Or1i2 UTSW 10 78,448,409 (GRCm39) missense probably benign
R6152:Or1i2 UTSW 10 78,448,409 (GRCm39) missense probably benign
R6836:Or1i2 UTSW 10 78,448,424 (GRCm39) missense probably damaging 1.00
R7266:Or1i2 UTSW 10 78,448,448 (GRCm39) missense probably benign 0.07
R8104:Or1i2 UTSW 10 78,448,242 (GRCm39) missense probably benign 0.29
R8765:Or1i2 UTSW 10 78,448,429 (GRCm39) missense probably benign 0.01
R8795:Or1i2 UTSW 10 78,447,698 (GRCm39) missense probably damaging 1.00
R8806:Or1i2 UTSW 10 78,447,974 (GRCm39) missense probably benign 0.08
R8842:Or1i2 UTSW 10 78,447,635 (GRCm39) missense possibly damaging 0.95
R9640:Or1i2 UTSW 10 78,448,311 (GRCm39) missense probably damaging 1.00
R9678:Or1i2 UTSW 10 78,447,717 (GRCm39) missense probably damaging 1.00
Z1176:Or1i2 UTSW 10 78,447,890 (GRCm39) missense probably damaging 1.00
Z1177:Or1i2 UTSW 10 78,447,985 (GRCm39) missense probably benign 0.40
Predicted Primers PCR Primer
(F):5'- GGATGCTGGCAGTAAATATCCAG -3'
(R):5'- CGCTACTCAGTGCTCATGAG -3'

Sequencing Primer
(F):5'- TATCCAGTAAAGATGGTCCCGTAG -3'
(R):5'- ATGAGCCCACATGTCTGC -3'
Posted On 2018-09-12