Incidental Mutation 'R7339:Or52n4b'
ID 569707
Institutional Source Beutler Lab
Gene Symbol Or52n4b
Ensembl Gene ENSMUSG00000060759
Gene Name olfactory receptor family 52 subfamily N member 4B
Synonyms MOR34-9, MOR34-12, GA_x6K02T2PBJ9-10874315-10875286, MOR34-8P, Olfr503, Olfr1548, MOR34-9
MMRRC Submission 045429-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R7339 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 108143734-108144705 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 108144107 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 125 (D125A)
Ref Sequence ENSEMBL: ENSMUSP00000077296 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078162] [ENSMUST00000211693]
AlphaFold Q7TRU8
Predicted Effect probably damaging
Transcript: ENSMUST00000078162
AA Change: D125A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077296
Gene: ENSMUSG00000060759
AA Change: D125A

DomainStartEndE-ValueType
Pfam:7tm_4 35 315 3e-103 PFAM
Pfam:7TM_GPCR_Srsx 39 268 2.4e-7 PFAM
Pfam:7tm_1 45 297 9.2e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000211693
AA Change: D123A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.5868 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (61/61)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik T C 5: 113,330,938 (GRCm39) D1092G probably benign Het
Abcb11 C T 2: 69,130,211 (GRCm39) D282N probably damaging Het
Ahnak A T 19: 8,985,529 (GRCm39) N2271I possibly damaging Het
Amz1 A G 5: 140,727,306 (GRCm39) S90G probably benign Het
Arhgap5 A G 12: 52,564,481 (GRCm39) E484G possibly damaging Het
Arid3c A G 4: 41,729,883 (GRCm39) probably null Het
Atp1a1 T C 3: 101,497,188 (GRCm39) I373V probably benign Het
Barhl1 T C 2: 28,799,899 (GRCm39) E242G probably damaging Het
Bltp2 G A 11: 78,163,210 (GRCm39) probably null Het
Cactin CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG 10: 81,157,152 (GRCm39) probably benign Het
Casz1 T A 4: 149,036,202 (GRCm39) V1488E probably damaging Het
Ccdc175 C A 12: 72,182,815 (GRCm39) Q401H probably damaging Het
Cfap36 T C 11: 29,175,925 (GRCm39) Y191C probably benign Het
Chmp2b G A 16: 65,342,232 (GRCm39) Q119* probably null Het
Cps1 T A 1: 67,236,174 (GRCm39) I969N possibly damaging Het
Dennd5a A G 7: 109,500,366 (GRCm39) F920L probably damaging Het
Dnah12 A T 14: 26,594,277 (GRCm39) T3410S probably benign Het
Fbxo42 T G 4: 140,927,455 (GRCm39) S578R possibly damaging Het
Fcgr1 C T 3: 96,191,615 (GRCm39) G398R not run Het
Foxa3 A T 7: 18,748,794 (GRCm39) Y111N probably damaging Het
Gabbr2 T C 4: 46,846,340 (GRCm39) K190E probably benign Het
Gbp10 T C 5: 105,367,964 (GRCm39) Y403C possibly damaging Het
Hsd3b5 A G 3: 98,529,390 (GRCm39) I80T probably damaging Het
Kri1 T G 9: 21,197,883 (GRCm39) Q89P Het
Lrp6 G T 6: 134,427,781 (GRCm39) P1604T probably damaging Het
Metap1 T C 3: 138,171,898 (GRCm39) probably null Het
Mkrn3 C T 7: 62,069,530 (GRCm39) R87H probably benign Het
Ms4a6d G A 19: 11,567,437 (GRCm39) Q155* probably null Het
Myh6 T C 14: 55,199,025 (GRCm39) probably null Het
Naip6 G T 13: 100,452,527 (GRCm39) P178Q probably damaging Het
Ncapg2 A G 12: 116,378,454 (GRCm39) E160G probably damaging Het
Nek6 G A 2: 38,450,977 (GRCm39) A127T probably damaging Het
Nell1 T C 7: 49,929,297 (GRCm39) V264A probably benign Het
Nlrp2 T A 7: 5,330,627 (GRCm39) I590F possibly damaging Het
Or13j1 C T 4: 43,706,080 (GRCm39) A163T probably benign Het
Or2y17 G A 11: 49,231,875 (GRCm39) R172Q not run Het
Or4f57 A T 2: 111,790,956 (GRCm39) M154K probably benign Het
Or4f6 A G 2: 111,838,820 (GRCm39) L237P probably damaging Het
Otop3 T A 11: 115,237,204 (GRCm39) L556Q probably damaging Het
Padi1 T C 4: 140,556,545 (GRCm39) D190G probably null Het
Pald1 T C 10: 61,159,110 (GRCm39) S774G possibly damaging Het
Pde10a C T 17: 8,975,860 (GRCm39) T55I probably benign Het
Pla2g4d T C 2: 120,109,459 (GRCm39) M197V probably benign Het
Prom1 C A 5: 44,258,995 (GRCm39) probably benign Het
Ptdss1 A G 13: 67,111,426 (GRCm39) H164R possibly damaging Het
Rrh A T 3: 129,604,262 (GRCm39) I313N probably damaging Het
Slc35b4 A G 6: 34,144,591 (GRCm39) I88T probably damaging Het
Slc38a11 C T 2: 65,156,914 (GRCm39) V353I probably benign Het
Spata31e3 A T 13: 50,401,204 (GRCm39) I374N possibly damaging Het
Spdef T A 17: 27,939,219 (GRCm39) E42D probably benign Het
Tgoln1 G C 6: 72,593,261 (GRCm39) T73R probably benign Het
Tmx1 A G 12: 70,505,624 (GRCm39) D129G probably benign Het
Trav13n-4 A T 14: 53,601,435 (GRCm39) Y68F probably benign Het
Trp53 T C 11: 69,480,015 (GRCm39) S238P probably damaging Het
Trp53bp1 T C 2: 121,066,950 (GRCm39) D592G probably benign Het
Ttll5 T C 12: 85,904,238 (GRCm39) probably null Het
Urb1 CACTTAC CAC 16: 90,569,461 (GRCm39) probably benign Het
Vmn2r43 A T 7: 8,258,306 (GRCm39) Y302* probably null Het
Vps13d C T 4: 144,847,938 (GRCm39) V2478I Het
Vps35l A T 7: 118,409,194 (GRCm39) I612F probably damaging Het
Wsb1 A G 11: 79,131,184 (GRCm39) V404A probably damaging Het
Zfc3h1 A G 10: 115,239,205 (GRCm39) D539G probably damaging Het
Zfp318 T C 17: 46,722,173 (GRCm39) V1392A probably damaging Het
Other mutations in Or52n4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01308:Or52n4b APN 7 108,143,933 (GRCm39) nonsense probably null
IGL02031:Or52n4b APN 7 108,144,137 (GRCm39) missense probably benign 0.03
IGL02426:Or52n4b APN 7 108,144,187 (GRCm39) missense probably benign 0.01
IGL02502:Or52n4b APN 7 108,143,846 (GRCm39) missense probably damaging 1.00
IGL03208:Or52n4b APN 7 108,144,326 (GRCm39) missense probably benign 0.02
R0507:Or52n4b UTSW 7 108,144,292 (GRCm39) missense probably damaging 0.98
R0967:Or52n4b UTSW 7 108,143,996 (GRCm39) missense probably damaging 1.00
R1181:Or52n4b UTSW 7 108,144,509 (GRCm39) missense probably benign 0.00
R1501:Or52n4b UTSW 7 108,143,782 (GRCm39) missense probably benign
R1596:Or52n4b UTSW 7 108,144,290 (GRCm39) missense possibly damaging 0.90
R1657:Or52n4b UTSW 7 108,144,584 (GRCm39) missense possibly damaging 0.50
R1708:Or52n4b UTSW 7 108,143,781 (GRCm39) missense probably benign 0.04
R2215:Or52n4b UTSW 7 108,144,095 (GRCm39) missense probably damaging 1.00
R4131:Or52n4b UTSW 7 108,143,744 (GRCm39) nonsense probably null
R4772:Or52n4b UTSW 7 108,144,092 (GRCm39) missense probably damaging 0.98
R5009:Or52n4b UTSW 7 108,144,055 (GRCm39) missense probably benign 0.01
R5297:Or52n4b UTSW 7 108,144,611 (GRCm39) missense probably damaging 1.00
R5788:Or52n4b UTSW 7 108,144,551 (GRCm39) missense probably damaging 0.97
R5944:Or52n4b UTSW 7 108,144,484 (GRCm39) missense possibly damaging 0.90
R6522:Or52n4b UTSW 7 108,144,202 (GRCm39) missense probably benign 0.09
R7045:Or52n4b UTSW 7 108,144,452 (GRCm39) missense probably damaging 1.00
R7558:Or52n4b UTSW 7 108,143,928 (GRCm39) nonsense probably null
R7585:Or52n4b UTSW 7 108,144,598 (GRCm39) missense probably damaging 1.00
R9209:Or52n4b UTSW 7 108,144,664 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGATTCCTTACACAGACCCATG -3'
(R):5'- TGGCTACAGACATGTGGTCAC -3'

Sequencing Primer
(F):5'- ACAGACCCATGTACTACTTTTTAGC -3'
(R):5'- ACATGTGGTCACAGTAGGTATG -3'
Posted On 2019-09-13