Incidental Mutation 'R2214:Or4p20'
ID 241000
Institutional Source Beutler Lab
Gene Symbol Or4p20
Ensembl Gene ENSMUSG00000075125
Gene Name olfactory receptor family 4 subfamily P member 20
Synonyms Olfr1181, GA_x6K02T2Q125-49911636-49910701, MOR225-9P
MMRRC Submission 040216-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R2214 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 88253432-88254367 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 88253461 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 303 (V303M)
Ref Sequence ENSEMBL: ENSMUSP00000150939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099823] [ENSMUST00000102619] [ENSMUST00000213190] [ENSMUST00000216121] [ENSMUST00000217320]
AlphaFold Q7TR18
Predicted Effect probably benign
Transcript: ENSMUST00000099823
AA Change: V303M

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000097411
Gene: ENSMUSG00000075125
AA Change: V303M

DomainStartEndE-ValueType
Pfam:7tm_4 28 303 1.5e-48 PFAM
Pfam:7tm_1 39 285 6.9e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102619
AA Change: V303M

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000099679
Gene: ENSMUSG00000075125
AA Change: V303M

DomainStartEndE-ValueType
low complexity region 24 34 N/A INTRINSIC
Pfam:7tm_1 39 285 7.2e-26 PFAM
Pfam:7tm_4 137 278 3.5e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213190
AA Change: V303M

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000216121
Predicted Effect probably benign
Transcript: ENSMUST00000217320
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 T C 16: 30,926,946 (GRCm39) Y516C probably benign Het
Adam22 C T 5: 8,186,805 (GRCm39) probably null Het
Akap8l T C 17: 32,557,799 (GRCm39) probably null Het
Casr T C 16: 36,336,120 (GRCm39) Y63C probably damaging Het
Ccdc178 T C 18: 22,048,047 (GRCm39) D781G possibly damaging Het
Col9a1 C A 1: 24,247,283 (GRCm39) P168Q probably damaging Het
Dnm2 T C 9: 21,397,019 (GRCm39) probably null Het
Dst C T 1: 34,310,482 (GRCm39) T6325M probably damaging Het
Ercc4 C A 16: 12,927,888 (GRCm39) D19E probably damaging Het
Gm1110 C A 9: 26,813,786 (GRCm39) V198L probably benign Het
Gm8674 T A 13: 50,055,396 (GRCm39) noncoding transcript Het
Grm7 A T 6: 111,335,958 (GRCm39) I790F probably damaging Het
Habp2 A G 19: 56,306,249 (GRCm39) D445G possibly damaging Het
Kat7 G A 11: 95,166,631 (GRCm39) T517I probably damaging Het
Kbtbd11 T A 8: 15,079,178 (GRCm39) D592E possibly damaging Het
Lgals8 T A 13: 12,469,713 (GRCm39) Q82L probably benign Het
Lmtk3 A G 7: 45,444,277 (GRCm39) probably benign Het
Map2 A T 1: 66,459,345 (GRCm39) D1530V probably damaging Het
Map2k6 G A 11: 110,387,167 (GRCm39) V180I probably damaging Het
Map3k5 T A 10: 19,902,035 (GRCm39) probably null Het
Mtor A G 4: 148,623,327 (GRCm39) E2059G probably benign Het
Myh10 A G 11: 68,673,953 (GRCm39) D660G probably damaging Het
Myo16 T A 8: 10,488,803 (GRCm39) V658E probably damaging Het
Nckap5 A T 1: 125,953,487 (GRCm39) S1090T possibly damaging Het
Nhlrc3 T C 3: 53,363,875 (GRCm39) H217R probably damaging Het
Ntrk3 T A 7: 78,166,520 (GRCm39) I118F probably damaging Het
Or14a259 T A 7: 86,013,414 (GRCm39) I44F probably benign Het
Or1e29 A T 11: 73,667,655 (GRCm39) L166* probably null Het
Paxip1 T C 5: 27,947,499 (GRCm39) Y1053C probably damaging Het
Pfkfb4 T A 9: 108,834,677 (GRCm39) F117I probably benign Het
Pp2d1 T C 17: 53,822,424 (GRCm39) Y214C probably benign Het
Prr7 C A 13: 55,620,613 (GRCm39) S207* probably null Het
Ptprh T A 7: 4,555,921 (GRCm39) Q715L possibly damaging Het
Rasgrp1 A T 2: 117,115,646 (GRCm39) D647E probably damaging Het
Rnf20 T A 4: 49,648,344 (GRCm39) M384K possibly damaging Het
Rps6kb1 A T 11: 86,424,896 (GRCm39) C37S possibly damaging Het
Serpinb9f C A 13: 33,518,592 (GRCm39) T364K probably benign Het
Sorbs1 C T 19: 40,285,075 (GRCm39) A641T probably damaging Het
Srrm2 T C 17: 24,035,719 (GRCm39) probably benign Het
Stag3 C T 5: 138,299,528 (GRCm39) S849L possibly damaging Het
Syt15 A T 14: 33,944,989 (GRCm39) S179C probably damaging Het
Tapbp T C 17: 34,139,300 (GRCm39) F90L possibly damaging Het
Timm23 A T 14: 31,920,944 (GRCm39) D49E probably damaging Het
Tmcc1 C CAT 6: 116,019,831 (GRCm39) probably null Het
Tmem174 A C 13: 98,773,757 (GRCm39) S24R possibly damaging Het
Tmem63a A G 1: 180,788,679 (GRCm39) S339G probably benign Het
Tsc22d2 A G 3: 58,323,627 (GRCm39) Y173C probably damaging Het
Ubap2 A G 4: 41,199,714 (GRCm39) probably null Het
Upp1 T A 11: 9,086,033 (GRCm39) V290E probably benign Het
Uqcc4 T C 17: 25,403,699 (GRCm39) V13A probably benign Het
Usp17lb A T 7: 104,490,639 (GRCm39) M96K probably benign Het
Wdr20rt A G 12: 65,274,187 (GRCm39) E449G probably damaging Het
Zkscan8 A T 13: 21,705,082 (GRCm39) S286T probably benign Het
Other mutations in Or4p20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00324:Or4p20 APN 2 88,254,130 (GRCm39) missense probably benign 0.30
IGL02224:Or4p20 APN 2 88,254,052 (GRCm39) splice site probably null
IGL03293:Or4p20 APN 2 88,253,571 (GRCm39) missense probably damaging 1.00
IGL02802:Or4p20 UTSW 2 88,253,832 (GRCm39) missense probably benign 0.23
R2508:Or4p20 UTSW 2 88,253,800 (GRCm39) missense possibly damaging 0.95
R4050:Or4p20 UTSW 2 88,253,967 (GRCm39) missense probably damaging 0.99
R5404:Or4p20 UTSW 2 88,254,145 (GRCm39) missense probably damaging 0.98
R5727:Or4p20 UTSW 2 88,253,791 (GRCm39) missense probably benign 0.00
R6578:Or4p20 UTSW 2 88,253,488 (GRCm39) missense probably benign 0.12
R6663:Or4p20 UTSW 2 88,253,694 (GRCm39) missense probably benign 0.25
R6974:Or4p20 UTSW 2 88,254,156 (GRCm39) missense possibly damaging 0.93
R7042:Or4p20 UTSW 2 88,253,746 (GRCm39) missense possibly damaging 0.89
R7659:Or4p20 UTSW 2 88,254,270 (GRCm39) missense probably damaging 1.00
R8443:Or4p20 UTSW 2 88,253,745 (GRCm39) missense probably benign
R8470:Or4p20 UTSW 2 88,254,228 (GRCm39) missense probably damaging 1.00
R9479:Or4p20 UTSW 2 88,253,677 (GRCm39) missense probably damaging 0.99
R9546:Or4p20 UTSW 2 88,254,049 (GRCm39) missense probably benign
R9706:Or4p20 UTSW 2 88,253,779 (GRCm39) missense probably benign
R9735:Or4p20 UTSW 2 88,253,501 (GRCm39) missense probably damaging 1.00
X0018:Or4p20 UTSW 2 88,254,006 (GRCm39) missense probably benign
Z1177:Or4p20 UTSW 2 88,254,159 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- GAGGGTTATTTACAAATCTGCTCAC -3'
(R):5'- AGCTCTTTCAACCTGTGGGTC -3'

Sequencing Primer
(F):5'- TCTGCTCACAATACAAAGTTCATTAC -3'
(R):5'- AACCTGTGGGTCCCATATATCTGTG -3'
Posted On 2014-10-15