Incidental Mutation 'R4955:Or2t43'
ID 381536
Institutional Source Beutler Lab
Gene Symbol Or2t43
Ensembl Gene ENSMUSG00000059279
Gene Name olfactory receptor family 2 subfamily T member 43
Synonyms GA_x6K02T00261-652-347, Olfr224, Olfr327-ps1, GA_x6K02T2NKPP-858022-858862, MOR275-10_p, MOR275-3
MMRRC Submission 042552-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R4955 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 58456682-58461379 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58457344 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 276 (Y276H)
Ref Sequence ENSEMBL: ENSMUSP00000104450 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081102] [ENSMUST00000108822] [ENSMUST00000215322] [ENSMUST00000216758] [ENSMUST00000217009]
AlphaFold M9MMJ7
Predicted Effect probably benign
Transcript: ENSMUST00000081102
AA Change: Y276H

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000079881
Gene: ENSMUSG00000059279
AA Change: Y276H

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 33 299 5.1e-7 PFAM
Pfam:7tm_1 39 288 4.4e-35 PFAM
Pfam:7tm_4 137 281 5.8e-43 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108822
AA Change: Y276H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104450
Gene: ENSMUSG00000064252
AA Change: Y276H

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 1.1e-47 PFAM
Pfam:7TM_GPCR_Srsx 33 299 5.1e-7 PFAM
Pfam:7tm_1 39 288 4.6e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215322
AA Change: Y276H

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000216758
AA Change: Y276H

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000217009
AA Change: Y276H

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
Meta Mutation Damage Score 0.3289 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 100% (50/50)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik G C 1: 120,096,840 (GRCm39) probably benign Het
3110009E18Rik C T 1: 120,096,850 (GRCm39) probably benign Het
3110009E18Rik G T 1: 120,096,849 (GRCm39) probably benign Het
4933407L21Rik T A 1: 85,859,008 (GRCm39) probably benign Het
Abca8a T G 11: 109,927,338 (GRCm39) E1338D probably benign Het
Arl2bp G A 8: 95,397,056 (GRCm39) probably null Het
Arsj T C 3: 126,232,189 (GRCm39) Y312H probably benign Het
Atp8b2 G T 3: 89,860,227 (GRCm39) probably benign Het
Cdh20 T C 1: 104,912,528 (GRCm39) V594A probably damaging Het
Cfap44 T A 16: 44,295,640 (GRCm39) V1646E possibly damaging Het
Csmd3 A T 15: 48,536,914 (GRCm39) I96K probably damaging Het
Fbn2 T C 18: 58,191,455 (GRCm39) Q1556R possibly damaging Het
Fstl5 T A 3: 76,131,183 (GRCm39) probably null Het
H4c9 T A 13: 22,225,355 (GRCm39) I47F probably damaging Het
Hivep2 T A 10: 14,006,702 (GRCm39) M1100K probably benign Het
Ing4 C T 6: 125,025,164 (GRCm39) A225V probably damaging Het
Kcnc3 CTT CT 7: 44,240,720 (GRCm39) probably null Het
Khdrbs2 T A 1: 32,559,158 (GRCm39) probably benign Het
Kif21a A T 15: 90,821,393 (GRCm39) W1566R probably damaging Het
Lrfn5 A C 12: 61,886,764 (GRCm39) D184A probably benign Het
Mettl2 C T 11: 105,028,605 (GRCm39) T319I possibly damaging Het
Mgrn1 T C 16: 4,752,083 (GRCm39) V529A probably benign Het
Naca T A 10: 127,878,084 (GRCm39) probably benign Het
Ninj2 A G 6: 120,174,907 (GRCm39) N26S probably damaging Het
Nqo1 A G 8: 108,115,489 (GRCm39) S263P probably benign Het
Obscn T C 11: 58,959,998 (GRCm39) T3566A probably benign Het
Opn5 A T 17: 42,922,129 (GRCm39) F24L probably damaging Het
Or14j8 T C 17: 38,263,789 (GRCm39) N42S probably damaging Het
Or4k41 A T 2: 111,279,950 (GRCm39) H155L probably damaging Het
Or52a20 A T 7: 103,365,912 (GRCm39) Y37F probably benign Het
Palmd A G 3: 116,717,873 (GRCm39) V208A probably damaging Het
Plekhd1 T A 12: 80,768,795 (GRCm39) I426N possibly damaging Het
Polq T G 16: 36,881,444 (GRCm39) Y1203D probably benign Het
Prex1 A G 2: 166,415,143 (GRCm39) F251S probably damaging Het
Prkd3 T C 17: 79,260,156 (GRCm39) M816V probably null Het
Rab3gap2 C T 1: 184,999,352 (GRCm39) probably benign Het
Rcan2 C A 17: 44,347,972 (GRCm39) P13Q probably damaging Het
Slc35b3 A G 13: 39,116,866 (GRCm39) V329A probably benign Het
Slc5a1 T C 5: 33,318,246 (GRCm39) M633T probably benign Het
Stac2 A C 11: 97,934,374 (GRCm39) L110R possibly damaging Het
Styxl2 T C 1: 165,935,661 (GRCm39) Y179C probably damaging Het
Tecpr1 T C 5: 144,154,075 (GRCm39) E126G probably damaging Het
Ttll6 A G 11: 96,029,615 (GRCm39) D176G possibly damaging Het
Utrn C T 10: 12,737,311 (GRCm39) probably null Het
Zfp341 T C 2: 154,479,950 (GRCm39) V467A probably damaging Het
Other mutations in Or2t43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00321:Or2t43 APN 11 58,457,593 (GRCm39) missense probably damaging 1.00
IGL02327:Or2t43 APN 11 58,457,761 (GRCm39) missense probably damaging 1.00
IGL02904:Or2t43 APN 11 58,457,623 (GRCm39) missense possibly damaging 0.61
IGL02968:Or2t43 APN 11 58,458,021 (GRCm39) missense possibly damaging 0.90
R1704:Or2t43 UTSW 11 58,457,580 (GRCm39) missense probably damaging 0.97
R2055:Or2t43 UTSW 11 58,457,673 (GRCm39) missense probably damaging 0.99
R3925:Or2t43 UTSW 11 58,457,652 (GRCm39) missense probably benign 0.34
R4093:Or2t43 UTSW 11 58,457,655 (GRCm39) missense probably damaging 1.00
R4902:Or2t43 UTSW 11 58,457,451 (GRCm39) missense possibly damaging 0.60
R4956:Or2t43 UTSW 11 58,457,344 (GRCm39) missense probably damaging 1.00
R4957:Or2t43 UTSW 11 58,457,344 (GRCm39) missense probably damaging 1.00
R5436:Or2t43 UTSW 11 58,457,763 (GRCm39) missense probably benign 0.34
R6699:Or2t43 UTSW 11 58,458,031 (GRCm39) missense possibly damaging 0.69
R6825:Or2t43 UTSW 11 58,457,476 (GRCm39) missense possibly damaging 0.89
R7467:Or2t43 UTSW 11 58,457,288 (GRCm39) missense possibly damaging 0.82
R7590:Or2t43 UTSW 11 58,458,085 (GRCm39) missense probably benign 0.09
R7600:Or2t43 UTSW 11 58,458,162 (GRCm39) missense probably benign 0.17
R7725:Or2t43 UTSW 11 58,457,593 (GRCm39) missense probably damaging 1.00
R8438:Or2t43 UTSW 11 58,457,665 (GRCm39) missense possibly damaging 0.74
R8848:Or2t43 UTSW 11 58,457,902 (GRCm39) missense probably damaging 1.00
R8867:Or2t43 UTSW 11 58,457,562 (GRCm39) missense probably damaging 0.99
R9376:Or2t43 UTSW 11 58,457,683 (GRCm39) missense possibly damaging 0.74
X0026:Or2t43 UTSW 11 58,458,000 (GRCm39) missense possibly damaging 0.50
Z1186:Or2t43 UTSW 11 58,457,920 (GRCm39) missense probably benign 0.02
Z1186:Or2t43 UTSW 11 58,457,521 (GRCm39) missense probably benign 0.00
Z1186:Or2t43 UTSW 11 58,457,388 (GRCm39) missense probably benign 0.02
Z1187:Or2t43 UTSW 11 58,457,920 (GRCm39) missense probably benign 0.02
Z1187:Or2t43 UTSW 11 58,457,521 (GRCm39) missense probably benign 0.00
Z1187:Or2t43 UTSW 11 58,457,388 (GRCm39) missense probably benign 0.02
Z1188:Or2t43 UTSW 11 58,457,920 (GRCm39) missense probably benign 0.02
Z1188:Or2t43 UTSW 11 58,457,521 (GRCm39) missense probably benign 0.00
Z1188:Or2t43 UTSW 11 58,457,388 (GRCm39) missense probably benign 0.02
Z1189:Or2t43 UTSW 11 58,457,920 (GRCm39) missense probably benign 0.02
Z1189:Or2t43 UTSW 11 58,457,521 (GRCm39) missense probably benign 0.00
Z1189:Or2t43 UTSW 11 58,457,388 (GRCm39) missense probably benign 0.02
Z1190:Or2t43 UTSW 11 58,457,920 (GRCm39) missense probably benign 0.02
Z1190:Or2t43 UTSW 11 58,457,521 (GRCm39) missense probably benign 0.00
Z1190:Or2t43 UTSW 11 58,457,388 (GRCm39) missense probably benign 0.02
Z1191:Or2t43 UTSW 11 58,457,521 (GRCm39) missense probably benign 0.00
Z1191:Or2t43 UTSW 11 58,457,388 (GRCm39) missense probably benign 0.02
Z1191:Or2t43 UTSW 11 58,457,920 (GRCm39) missense probably benign 0.02
Z1192:Or2t43 UTSW 11 58,457,920 (GRCm39) missense probably benign 0.02
Z1192:Or2t43 UTSW 11 58,457,521 (GRCm39) missense probably benign 0.00
Z1192:Or2t43 UTSW 11 58,457,388 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- ATCAGCATGAGACCTGGAAC -3'
(R):5'- CTGTGACAGTCATTTCAGGCTC -3'

Sequencing Primer
(F):5'- ATTTCTGAGTTCGAGGCCAGCC -3'
(R):5'- GTGACAGTCATTTCAGGCTCCTATTC -3'
Posted On 2016-04-27