Incidental Mutation 'R0241:Or52n4'
ID 59487
Institutional Source Beutler Lab
Gene Symbol Or52n4
Ensembl Gene ENSMUSG00000070421
Gene Name olfactory receptor family 52 subfamily N member 4
Synonyms MOR34-5, GA_x6K02T2PBJ9-7273558-7272587, Olfr658
MMRRC Submission 038479-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R0241 (G1)
Quality Score 159
Status Validated
Chromosome 7
Chromosomal Location 104292087-104296512 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104294450 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 41 (M41T)
Ref Sequence ENSEMBL: ENSMUSP00000147498 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089296] [ENSMUST00000210641]
AlphaFold Q8VGV5
Predicted Effect probably benign
Transcript: ENSMUST00000089296
AA Change: M43T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000086711
Gene: ENSMUSG00000070421
AA Change: M43T

DomainStartEndE-ValueType
Pfam:7tm_4 35 315 1.9e-108 PFAM
Pfam:7TM_GPCR_Srsx 39 256 3.1e-9 PFAM
Pfam:7tm_1 45 297 1.6e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000210641
AA Change: M41T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Meta Mutation Damage Score 0.1274 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 94.8%
Validation Efficiency 99% (72/73)
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
Adck2 T A 6: 39,560,752 (GRCm39) V380E probably benign Het
Anapc1 A T 2: 128,470,549 (GRCm39) M1527K possibly damaging Het
Arfgef3 T A 10: 18,474,962 (GRCm39) I1575F probably damaging Het
Atp4a G T 7: 30,416,560 (GRCm39) G446C probably benign Het
Bicra A T 7: 15,709,070 (GRCm39) M1188K probably damaging Het
Brd7 G A 8: 89,072,478 (GRCm39) R331W probably benign Het
Cactin A G 10: 81,158,486 (GRCm39) T151A probably benign Het
Cadps G A 14: 12,376,675 (GRCm38) T1274M probably damaging Het
Catsper3 T C 13: 55,952,667 (GRCm39) M175T probably damaging Het
Chd5 A G 4: 152,450,589 (GRCm39) D605G probably damaging Het
Chst12 G A 5: 140,510,054 (GRCm39) R227H possibly damaging Het
Cic T A 7: 24,986,565 (GRCm39) S1299T probably damaging Het
Cic C A 7: 24,986,566 (GRCm39) S1299Y probably damaging Het
Cimap1d C T 10: 79,480,564 (GRCm39) probably null Het
Cobl A T 11: 12,204,524 (GRCm39) V644E probably benign Het
Ddx31 A G 2: 28,738,303 (GRCm39) T155A probably damaging Het
Dnah3 T C 7: 119,521,953 (GRCm39) Q4069R probably damaging Het
Dnah8 T C 17: 30,984,653 (GRCm39) I3117T probably damaging Het
Doc2b A G 11: 75,663,387 (GRCm39) V355A probably damaging Het
Dock10 A T 1: 80,556,340 (GRCm39) S578T probably benign Het
Duox1 T C 2: 122,163,878 (GRCm39) probably benign Het
Epb41l5 T C 1: 119,495,509 (GRCm39) probably null Het
Fbp2 A T 13: 63,001,862 (GRCm39) F118I probably damaging Het
Fcer2a A G 8: 3,738,796 (GRCm39) probably null Het
Fmnl1 G A 11: 103,072,996 (GRCm39) probably null Het
Fry A T 5: 150,183,811 (GRCm39) probably benign Het
Git2 T C 5: 114,871,290 (GRCm39) E208G probably damaging Het
Hs6st3 T C 14: 119,376,232 (GRCm39) F136L probably benign Het
Hydin G A 8: 111,124,655 (GRCm39) V555I probably benign Het
Kcns1 A T 2: 164,010,300 (GRCm39) I153N probably damaging Het
Kmt2b A G 7: 30,276,494 (GRCm39) L1726S probably damaging Het
Loxl3 A G 6: 83,027,114 (GRCm39) D615G probably damaging Het
Negr1 T A 3: 156,914,036 (GRCm39) probably benign Het
Nfasc C A 1: 132,564,731 (GRCm39) A70S probably benign Het
Or4d1 T A 11: 87,804,860 (GRCm39) N291Y probably damaging Het
Or4p21 A T 2: 88,276,889 (GRCm39) M131K possibly damaging Het
Or5g29 A G 2: 85,421,154 (GRCm39) K90R probably benign Het
Otud7a T C 7: 63,346,992 (GRCm39) probably benign Het
Pacs2 T C 12: 113,032,890 (GRCm39) probably benign Het
Pde7b A G 10: 20,311,962 (GRCm39) C239R probably damaging Het
Pdzd2 A T 15: 12,368,027 (GRCm39) L2654Q probably damaging Het
Pgap1 T C 1: 54,575,110 (GRCm39) probably null Het
Proz T A 8: 13,115,356 (GRCm39) M124K probably benign Het
Raet1d A G 10: 22,247,328 (GRCm39) T135A probably benign Het
Rapgef1 A G 2: 29,592,682 (GRCm39) N558S possibly damaging Het
Rpl7 C G 1: 16,173,446 (GRCm39) G101A possibly damaging Het
Sec14l1 G A 11: 117,037,924 (GRCm39) probably benign Het
Sfi1 CCTCTC CCTCTCTC 11: 3,127,419 (GRCm39) probably benign Het
Simc1 G T 13: 54,698,338 (GRCm39) L1319F probably damaging Het
Sspo A G 6: 48,438,429 (GRCm39) E1499G possibly damaging Het
Tango6 C T 8: 107,473,993 (GRCm39) probably benign Het
Tas2r118 T C 6: 23,969,338 (GRCm39) Y241C probably damaging Het
Tbck A G 3: 132,430,636 (GRCm39) E344G probably benign Het
Tcam1 G A 11: 106,174,904 (GRCm39) E120K probably benign Het
Thop1 T A 10: 80,916,079 (GRCm39) probably benign Het
Tmbim7 A T 5: 3,716,866 (GRCm39) Y66F probably benign Het
Tmc8 C T 11: 117,677,207 (GRCm39) probably benign Het
Tnfrsf19 A G 14: 61,211,041 (GRCm39) S216P possibly damaging Het
Trappc2l A G 8: 123,341,132 (GRCm39) probably benign Het
Trim67 A G 8: 125,549,929 (GRCm39) R520G probably damaging Het
Ubp1 T A 9: 113,795,655 (GRCm39) probably null Het
Vil1 T C 1: 74,465,853 (GRCm39) L548P probably damaging Het
Wdr3 A G 3: 100,052,973 (GRCm39) V593A probably damaging Het
Wdr5 A G 2: 27,423,025 (GRCm39) Y243C probably damaging Het
Zan T C 5: 137,420,084 (GRCm39) T2858A unknown Het
Zbtb37 A T 1: 160,847,939 (GRCm39) V356E probably benign Het
Zfp36 C T 7: 28,077,759 (GRCm39) V50I probably damaging Het
Zfp563 A T 17: 33,323,659 (GRCm39) S85C possibly damaging Het
Other mutations in Or52n4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01404:Or52n4 APN 7 104,293,687 (GRCm39) nonsense probably null
IGL01408:Or52n4 APN 7 104,294,136 (GRCm39) missense possibly damaging 0.61
IGL02612:Or52n4 APN 7 104,293,870 (GRCm39) missense probably benign 0.00
R0241:Or52n4 UTSW 7 104,294,450 (GRCm39) missense probably benign 0.00
R1171:Or52n4 UTSW 7 104,294,204 (GRCm39) missense probably damaging 1.00
R1465:Or52n4 UTSW 7 104,294,153 (GRCm39) missense probably benign 0.13
R1465:Or52n4 UTSW 7 104,294,153 (GRCm39) missense probably benign 0.13
R1568:Or52n4 UTSW 7 104,293,977 (GRCm39) missense probably benign 0.28
R1866:Or52n4 UTSW 7 104,294,004 (GRCm39) missense probably benign 0.35
R4061:Or52n4 UTSW 7 104,293,680 (GRCm39) nonsense probably null
R4233:Or52n4 UTSW 7 104,294,195 (GRCm39) missense probably benign 0.15
R6080:Or52n4 UTSW 7 104,294,517 (GRCm39) missense probably benign 0.01
R6479:Or52n4 UTSW 7 104,294,333 (GRCm39) missense probably benign 0.02
R7222:Or52n4 UTSW 7 104,293,937 (GRCm39) missense probably damaging 1.00
R8064:Or52n4 UTSW 7 104,294,561 (GRCm39) missense probably benign
R8352:Or52n4 UTSW 7 104,293,736 (GRCm39) missense possibly damaging 0.88
R8452:Or52n4 UTSW 7 104,293,736 (GRCm39) missense possibly damaging 0.88
R9016:Or52n4 UTSW 7 104,293,828 (GRCm39) nonsense probably null
R9034:Or52n4 UTSW 7 104,293,835 (GRCm39) missense probably damaging 1.00
R9239:Or52n4 UTSW 7 104,293,746 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CATCCCCGTGAAGGTATGGATGAAG -3'
(R):5'- TCAGGATCTGACCAGTAACAGTTCCC -3'

Sequencing Primer
(F):5'- TGAAGAACATCTGTACAAGACAGTC -3'
(R):5'- TGACCAGTAACAGTTCCCTGAATG -3'
Posted On 2013-07-11