Incidental Mutation 'R2252:Or4g16'
ID 241723
Institutional Source Beutler Lab
Gene Symbol Or4g16
Ensembl Gene ENSMUSG00000109813
Gene Name olfactory receptor family 4 subfamily G member 16
Synonyms Olfr1279, MOR245-12, GA_x6K02T2Q125-72357646-72358581
MMRRC Submission 040252-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.165) question?
Stock # R2252 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 111136546-111137487 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 111136655 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 35 (Y35C)
Ref Sequence ENSEMBL: ENSMUSP00000149972 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062407] [ENSMUST00000090329] [ENSMUST00000213823] [ENSMUST00000216697]
AlphaFold Q8VF38
Predicted Effect probably damaging
Transcript: ENSMUST00000062407
AA Change: Y35C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052153
Gene: ENSMUSG00000108931
AA Change: Y35C

DomainStartEndE-ValueType
Pfam:7tm_4 31 305 7.2e-45 PFAM
Pfam:7TM_GPCR_Srsx 34 302 2.4e-5 PFAM
Pfam:7tm_1 41 287 2e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000090329
AA Change: Y37C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000087801
Gene: ENSMUSG00000109813
AA Change: Y37C

DomainStartEndE-ValueType
Pfam:7tm_4 33 306 1.7e-44 PFAM
Pfam:7TM_GPCR_Srsx 36 300 3.2e-5 PFAM
Pfam:7tm_1 43 289 7.4e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213823
AA Change: Y35C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216697
AA Change: Y35C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik G A 14: 59,380,061 (GRCm39) S79F probably damaging Het
Acaca G T 11: 84,262,358 (GRCm39) V1987L probably damaging Het
B3gnt3 A T 8: 72,145,462 (GRCm39) M302K probably damaging Het
BC048507 T C 13: 68,011,626 (GRCm39) M1T probably null Het
Bckdk C A 7: 127,504,590 (GRCm39) R105S probably damaging Het
Casp3 G T 8: 47,090,990 (GRCm39) W214L probably damaging Het
Cd180 A T 13: 102,842,906 (GRCm39) K651* probably null Het
Cdh15 T A 8: 123,584,161 (GRCm39) D87E probably damaging Het
Cldn24 G T 8: 48,275,363 (GRCm39) R62S probably benign Het
Cnot1 A G 8: 96,489,814 (GRCm39) V463A probably benign Het
Cspg4 C T 9: 56,805,330 (GRCm39) T2047I probably damaging Het
Cul2 A T 18: 3,399,876 (GRCm39) L3F probably damaging Het
Cwc27 A T 13: 104,768,237 (GRCm39) H419Q probably damaging Het
Dgkg A T 16: 22,441,010 (GRCm39) M1K probably null Het
Dock5 A T 14: 68,022,261 (GRCm39) L1171H probably damaging Het
Drc1 G T 5: 30,500,075 (GRCm39) V103F probably benign Het
Ep400 A T 5: 110,866,957 (GRCm39) N1062K unknown Het
Faap20 A C 4: 155,335,010 (GRCm39) E37A possibly damaging Het
Foxa2 A G 2: 147,886,086 (GRCm39) F243S probably damaging Het
Gzf1 T C 2: 148,525,856 (GRCm39) M109T probably damaging Het
Itch T A 2: 155,054,259 (GRCm39) M701K probably benign Het
Kpna1 T C 16: 35,841,939 (GRCm39) Y280H possibly damaging Het
L1td1 A G 4: 98,625,874 (GRCm39) probably null Het
Lrrc37a T C 11: 103,392,293 (GRCm39) Q1044R probably benign Het
Lrrc52 A T 1: 167,293,937 (GRCm39) I116N probably damaging Het
Mbd5 A G 2: 49,147,698 (GRCm39) E636G probably damaging Het
Mrpl40 T C 16: 18,694,125 (GRCm39) H29R probably benign Het
Nrip1 T C 16: 76,088,173 (GRCm39) Y1128C probably damaging Het
Or10d3 G T 9: 39,461,273 (GRCm39) A298D probably damaging Het
Or5ak20 A G 2: 85,184,202 (GRCm39) S23P possibly damaging Het
Or8c8 A G 9: 38,165,126 (GRCm39) I135V probably benign Het
Pard3 A T 8: 128,337,080 (GRCm39) E1232V probably damaging Het
Pcif1 A G 2: 164,732,799 (GRCm39) E628G probably benign Het
Pcsk1 C A 13: 75,274,845 (GRCm39) A478D probably benign Het
Pkd1l2 T C 8: 117,784,177 (GRCm39) Y700C probably damaging Het
Pknox2 T C 9: 36,821,816 (GRCm39) N270D probably benign Het
Plcb2 T C 2: 118,554,246 (GRCm39) N69S probably benign Het
Reep1 T A 6: 71,733,426 (GRCm39) probably null Het
Sash1 A T 10: 8,605,741 (GRCm39) M883K probably benign Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Septin4 A G 11: 87,480,637 (GRCm39) N405D possibly damaging Het
Serpinb3b T C 1: 107,083,208 (GRCm39) I231M possibly damaging Het
Serping1 A G 2: 84,600,195 (GRCm39) S322P probably damaging Het
Slc7a2 T C 8: 41,358,658 (GRCm39) Y334H probably benign Het
Spink5 G T 18: 44,153,891 (GRCm39) E1013* probably null Het
Thoc3 A T 13: 54,615,646 (GRCm39) N139K probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tubb2b T A 13: 34,314,198 (GRCm39) I7F possibly damaging Het
Upf2 A G 2: 5,966,271 (GRCm39) D297G unknown Het
Vmn2r18 T C 5: 151,508,441 (GRCm39) I228V possibly damaging Het
Vmn2r98 A C 17: 19,300,698 (GRCm39) S567R probably benign Het
Vwa5a T C 9: 38,639,376 (GRCm39) I369T probably damaging Het
Yjefn3 A C 8: 70,342,095 (GRCm39) F42V probably damaging Het
Zfp472 A T 17: 33,195,257 (GRCm39) R69* probably null Het
Zfp536 T C 7: 37,178,814 (GRCm39) S200G probably benign Het
Zfp970 T A 2: 177,166,614 (GRCm39) probably null Het
Other mutations in Or4g16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01095:Or4g16 APN 2 111,136,966 (GRCm39) missense probably benign 0.19
IGL01355:Or4g16 APN 2 111,137,438 (GRCm39) missense probably benign 0.00
IGL01864:Or4g16 APN 2 111,137,400 (GRCm39) missense probably damaging 1.00
IGL02160:Or4g16 APN 2 111,137,143 (GRCm39) missense probably benign 0.02
IGL02183:Or4g16 APN 2 111,136,763 (GRCm39) missense probably damaging 0.98
PIT4377001:Or4g16 UTSW 2 111,137,225 (GRCm39) missense probably damaging 1.00
R0280:Or4g16 UTSW 2 111,137,417 (GRCm39) missense possibly damaging 0.48
R0636:Or4g16 UTSW 2 111,136,757 (GRCm39) missense probably benign 0.06
R0732:Or4g16 UTSW 2 111,137,325 (GRCm39) nonsense probably null
R1661:Or4g16 UTSW 2 111,137,116 (GRCm39) missense probably damaging 1.00
R1665:Or4g16 UTSW 2 111,137,116 (GRCm39) missense probably damaging 1.00
R2251:Or4g16 UTSW 2 111,136,655 (GRCm39) missense probably damaging 1.00
R2253:Or4g16 UTSW 2 111,136,655 (GRCm39) missense probably damaging 1.00
R2473:Or4g16 UTSW 2 111,137,236 (GRCm39) missense probably damaging 1.00
R3408:Or4g16 UTSW 2 111,136,850 (GRCm39) missense probably damaging 1.00
R5020:Or4g16 UTSW 2 111,136,637 (GRCm39) missense probably benign 0.01
R5634:Or4g16 UTSW 2 111,137,437 (GRCm39) missense probably benign
R5647:Or4g16 UTSW 2 111,137,392 (GRCm39) missense possibly damaging 0.67
R6782:Or4g16 UTSW 2 111,137,090 (GRCm39) missense probably damaging 1.00
R6911:Or4g16 UTSW 2 111,136,618 (GRCm39) missense probably benign 0.00
R7135:Or4g16 UTSW 2 111,137,365 (GRCm39) missense probably benign 0.05
R7167:Or4g16 UTSW 2 111,136,793 (GRCm39) missense probably benign 0.10
R7452:Or4g16 UTSW 2 111,137,266 (GRCm39) missense probably damaging 1.00
R7563:Or4g16 UTSW 2 111,137,134 (GRCm39) missense probably benign 0.00
R7582:Or4g16 UTSW 2 111,136,793 (GRCm39) missense probably damaging 0.97
R8949:Or4g16 UTSW 2 111,137,379 (GRCm39) missense probably damaging 1.00
X0021:Or4g16 UTSW 2 111,136,933 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTTTTGCTAGCCAACTCAGAC -3'
(R):5'- TGAGTCATGCAATTGTGGAAAG -3'

Sequencing Primer
(F):5'- AGCCAACTCAGACGGTGTTTTTC -3'
(R):5'- GTGGAAAGAAATTACTTTGTGCTC -3'
Posted On 2014-10-16