Incidental Mutation 'R5944:Or52n4b'
ID 460482
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 044136-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R5944 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 108143734-108144705 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 108144484 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 249 (A249T)
Ref Sequence ENSEMBL: ENSMUSP00000147778 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078162] [ENSMUST00000211693]
AlphaFold Q7TRU8
Predicted Effect possibly damaging
Transcript: ENSMUST00000078162
AA Change: A251T

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000077296
Gene: ENSMUSG00000060759
AA Change: A251T

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 possibly damaging
Transcript: ENSMUST00000211693
AA Change: A249T

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
Meta Mutation Damage Score 0.1190 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.8%
Validation Efficiency 86% (51/59)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb G T 5: 114,384,041 (GRCm39) R2190L probably damaging Het
Ankrd17 C T 5: 90,433,702 (GRCm39) R689H probably damaging Het
Apol7b A T 15: 77,307,967 (GRCm39) V176E probably damaging Het
Arsg T C 11: 109,426,137 (GRCm39) F319S probably damaging Het
Bcar3 T A 3: 122,316,932 (GRCm39) D634E probably benign Het
Bend7 T C 2: 4,749,167 (GRCm39) W95R probably damaging Het
Cenpj A G 14: 56,791,115 (GRCm39) probably null Het
Cfap91 G T 16: 38,148,672 (GRCm39) T252N probably damaging Het
Clasrp A T 7: 19,328,431 (GRCm39) Y116N probably damaging Het
Cldn17 T C 16: 88,303,597 (GRCm39) E44G probably damaging Het
Cyfip1 G A 7: 55,521,878 (GRCm39) E61K probably damaging Het
Dcaf13 A C 15: 39,010,072 (GRCm39) M419L probably benign Het
Eml4 A G 17: 83,753,472 (GRCm39) D269G possibly damaging Het
Fap T C 2: 62,372,605 (GRCm39) Y258C probably damaging Het
Fdxr T A 11: 115,160,672 (GRCm39) T288S probably benign Het
Frs3 T C 17: 48,003,233 (GRCm39) probably benign Het
Gm5581 T A 6: 131,145,363 (GRCm39) noncoding transcript Het
Gm7964 A G 7: 83,405,743 (GRCm39) D187G probably benign Het
Gpc5 T C 14: 115,607,250 (GRCm39) V284A probably benign Het
Hspa9 T C 18: 35,082,076 (GRCm39) T177A possibly damaging Het
Ifi202b T A 1: 173,791,365 (GRCm39) M438L probably benign Het
Ighv1-3 T C 12: 114,445,239 (GRCm39) probably benign Het
Krt36 G T 11: 99,996,139 (GRCm39) A95E probably benign Het
Krt9 C T 11: 100,079,265 (GRCm39) S709N unknown Het
Lmntd1 A T 6: 145,373,042 (GRCm39) S164T probably damaging Het
Or14c41 T A 7: 86,234,486 (GRCm39) M1K probably null Het
Or2ag1b A T 7: 106,288,853 (GRCm39) C28* probably null Het
Or5b94 C T 19: 12,652,283 (GRCm39) T238I probably damaging Het
Or7a41 A T 10: 78,871,223 (GRCm39) M198L probably benign Het
Papola T A 12: 105,778,644 (GRCm39) F341I possibly damaging Het
Phf3 A G 1: 30,859,785 (GRCm39) L914P probably damaging Het
Sec24d T C 3: 123,087,230 (GRCm39) V132A probably benign Het
Serpini1 G A 3: 75,547,606 (GRCm39) D373N probably damaging Het
Sigirr T C 7: 140,671,300 (GRCm39) Y394C probably damaging Het
Slc29a4 G A 5: 142,704,573 (GRCm39) E372K probably damaging Het
Slc7a4 C T 16: 17,392,220 (GRCm39) V405I possibly damaging Het
Spatc1 T C 15: 76,168,138 (GRCm39) L199P probably damaging Het
Srgap3 T C 6: 112,772,775 (GRCm39) M149V possibly damaging Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Het
Stat3 C T 11: 100,785,931 (GRCm39) A449T probably damaging Het
Stat4 A G 1: 52,113,898 (GRCm39) N203D probably damaging Het
Tanc1 T C 2: 59,667,564 (GRCm39) probably null Het
Trav3-1 T C 14: 52,818,449 (GRCm39) I41T probably benign Het
Usp34 T A 11: 23,313,089 (GRCm39) D525E probably damaging Het
Vars1 T C 17: 35,232,620 (GRCm39) V848A probably damaging Het
Vmn2r101 A T 17: 19,809,769 (GRCm39) D185V probably benign Het
Wiz A G 17: 32,576,671 (GRCm39) S628P probably benign Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L 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
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
R7339:Or52n4b UTSW 7 108,144,107 (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'- TGTCTGTAGCCAAGTTGCCC -3'
(R):5'- GAGCTTTGGAATCCTTAGACTCTG -3'

Sequencing Primer
(F):5'- CCCTGTGGCAATGTCAAGGTG -3'
(R):5'- ATCCTTATGACACAGTCTTGTATCTG -3'
Posted On 2017-02-28