Incidental Mutation 'R4233:Or52n4'
ID 320961
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 041642-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R4233 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 104292087-104296512 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104294195 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 126 (V126A)
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: V128A

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000086711
Gene: ENSMUSG00000070421
AA Change: V128A

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: V126A

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
Meta Mutation Damage Score 0.3369 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.2%
Validation Efficiency 100% (53/53)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik A T 5: 138,562,454 (GRCm39) Y96N probably damaging Het
Abca15 C T 7: 120,002,202 (GRCm39) Q1572* probably null Het
Ajuba T C 14: 54,806,983 (GRCm39) R490G probably damaging Het
Akap6 T A 12: 53,186,454 (GRCm39) N1289K probably damaging Het
Ankfy1 G A 11: 72,605,310 (GRCm39) probably null Het
Aph1c A G 9: 66,740,603 (GRCm39) F41S probably damaging Het
Arhgap21 A G 2: 20,891,948 (GRCm39) V161A probably damaging Het
Arhgef18 T C 8: 3,500,317 (GRCm39) I541T possibly damaging Het
Arhgef40 T C 14: 52,227,628 (GRCm39) V458A possibly damaging Het
Atg14 T C 14: 47,788,802 (GRCm39) K184E probably benign Het
Casp8 T C 1: 58,883,929 (GRCm39) V432A probably damaging Het
Ccar2 T C 14: 70,388,540 (GRCm39) T169A possibly damaging Het
Cfap58 G A 19: 47,963,994 (GRCm39) V541M possibly damaging Het
Coro2b T C 9: 62,333,467 (GRCm39) E376G possibly damaging Het
Dnah11 T C 12: 117,880,526 (GRCm39) T3865A probably damaging Het
Dync2h1 T C 9: 7,134,360 (GRCm39) E1549G probably benign Het
Ercc6l2 T C 13: 64,019,982 (GRCm39) probably benign Het
Fbxo32 G T 15: 58,055,729 (GRCm39) T135K possibly damaging Het
Fhip2b A C 14: 70,824,318 (GRCm39) V473G probably damaging Het
Fras1 A T 5: 96,862,235 (GRCm39) I2205F possibly damaging Het
Gm12034 A G 11: 20,396,785 (GRCm39) noncoding transcript Het
Gm26678 T C 3: 54,540,504 (GRCm39) noncoding transcript Het
Gm5108 C A 5: 68,132,496 (GRCm39) T55K unknown Het
Gpa33 A T 1: 165,974,340 (GRCm39) D59V probably damaging Het
Gpn2 T A 4: 133,312,016 (GRCm39) Y83N probably damaging Het
Gzf1 C T 2: 148,528,453 (GRCm39) P460S possibly damaging Het
Ifi203 A T 1: 173,764,099 (GRCm39) S124R possibly damaging Het
Impg1 A G 9: 80,252,611 (GRCm39) L523P probably damaging Het
Ldlrap1 T A 4: 134,484,649 (GRCm39) probably null Het
Madd T C 2: 91,008,581 (GRCm39) E107G probably benign Het
Med12l T G 3: 59,164,644 (GRCm39) probably null Het
Nxpe4 A T 9: 48,310,137 (GRCm39) T467S probably damaging Het
Or7g30 T A 9: 19,352,886 (GRCm39) L226I probably damaging Het
Pam A T 1: 97,792,119 (GRCm39) V434D possibly damaging Het
Plxnd1 T C 6: 115,942,914 (GRCm39) N1257D probably benign Het
Prkdc C T 16: 15,653,783 (GRCm39) A3870V probably benign Het
Ralgapa1 C T 12: 55,687,429 (GRCm39) R2019Q probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Ryr2 T C 13: 11,765,611 (GRCm39) D1375G probably benign Het
Skint11 C A 4: 114,101,856 (GRCm39) Q99K probably benign Het
Slc13a2 A G 11: 78,294,361 (GRCm39) probably benign Het
Slc7a13 T C 4: 19,819,070 (GRCm39) F90S probably damaging Het
Spc24 T C 9: 21,667,498 (GRCm39) probably null Het
Stard13 A G 5: 150,986,164 (GRCm39) S331P probably benign Het
Sult2a8 T A 7: 14,147,608 (GRCm39) I228L probably benign Het
Tas2r140 A T 6: 133,031,915 (GRCm39) V281D probably damaging Het
Tmem38b T C 4: 53,840,710 (GRCm39) C66R probably damaging Het
Tshz1 C A 18: 84,034,320 (GRCm39) E29D probably benign Het
Zfp599 T A 9: 22,161,041 (GRCm39) K375* probably null 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
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
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'- AACTTGGCTACAGACATGTGG -3'
(R):5'- TTGAGGATTCCTTACACAGACCC -3'

Sequencing Primer
(F):5'- TGGCTACAGACATGTGGTCACAG -3'
(R):5'- AGCAATGCTTTCTCTAACAGACCTTG -3'
Posted On 2015-06-12