Incidental Mutation 'R9115:Or52h2'
ID 692473
Institutional Source Beutler Lab
Gene Symbol Or52h2
Ensembl Gene ENSMUSG00000044899
Gene Name olfactory receptor family 52 subfamily H member 2
Synonyms MOR31-7, GA_x6K02T2PBJ9-6924585-6923647, Olfr649
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R9115 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 103838474-103839412 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 103838931 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 161 (C161F)
Ref Sequence ENSEMBL: ENSMUSP00000102472 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060440] [ENSMUST00000106859]
AlphaFold Q8VGW1
Predicted Effect possibly damaging
Transcript: ENSMUST00000060440
AA Change: C161F

PolyPhen 2 Score 0.530 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000050903
Gene: ENSMUSG00000044899
AA Change: C161F

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 37 308 8.3e-7 PFAM
Pfam:7tm_1 43 294 3.7e-30 PFAM
Pfam:7tm_4 142 287 4.7e-30 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000106859
AA Change: C161F

PolyPhen 2 Score 0.530 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000102472
Gene: ENSMUSG00000044899
AA Change: C161F

DomainStartEndE-ValueType
Pfam:7tm_4 33 312 2.9e-111 PFAM
Pfam:7TM_GPCR_Srsx 37 308 8.3e-7 PFAM
Pfam:7tm_1 43 294 5e-20 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.1%
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
Aire T C 10: 77,879,309 (GRCm39) T17A Het
Ankrd31 T C 13: 96,940,773 (GRCm39) probably null Het
Brwd1 C T 16: 95,848,314 (GRCm39) R569K probably damaging Het
Capns1 A T 7: 29,889,978 (GRCm39) I177K probably benign Het
Ccdc182 A G 11: 88,185,343 (GRCm39) N141S probably benign Het
Celsr1 A G 15: 85,803,217 (GRCm39) W2441R probably damaging Het
Cftr A T 6: 18,235,310 (GRCm39) R516S probably damaging Het
Ckap4 C T 10: 84,363,507 (GRCm39) V519M probably damaging Het
Col27a1 C T 4: 63,231,974 (GRCm39) P1277L unknown Het
Cspg4 T C 9: 56,797,736 (GRCm39) L1400P probably damaging Het
Cyp4f39 T A 17: 32,711,296 (GRCm39) F481Y probably damaging Het
Dmxl2 T C 9: 54,309,011 (GRCm39) I1913M probably benign Het
Dock10 T C 1: 80,490,156 (GRCm39) T1989A probably damaging Het
Eef2 CC CCC 10: 81,014,603 (GRCm39) probably null Het
Fcgbpl1 G A 7: 27,853,754 (GRCm39) V1573I possibly damaging Het
Fshr T A 17: 89,292,948 (GRCm39) I577F probably damaging Het
Gfm2 T C 13: 97,301,707 (GRCm39) probably null Het
Gm12695 T C 4: 96,657,846 (GRCm39) N108D possibly damaging Het
Gm3285 T A 10: 77,698,007 (GRCm39) L52H unknown Het
Gm5930 A T 14: 44,575,006 (GRCm39) L95* probably null Het
Hjurp CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT C 1: 88,193,999 (GRCm39) probably benign Het
Klhl26 A G 8: 70,904,896 (GRCm39) M338T possibly damaging Het
Lrrc4c T C 2: 97,459,686 (GRCm39) I104T probably benign Het
Mapk10 A T 5: 103,186,532 (GRCm39) V60E Het
Mfsd4b3-ps T A 10: 39,824,012 (GRCm39) K83* probably null Het
Muc15 C T 2: 110,562,089 (GRCm39) T175I probably damaging Het
Nmu G A 5: 76,511,572 (GRCm39) probably benign Het
Nol4l G T 2: 153,253,638 (GRCm39) T645K probably damaging Het
Nr2f1 A G 13: 78,337,869 (GRCm39) S416P probably benign Het
Ntn4 A C 10: 93,569,675 (GRCm39) I463L probably benign Het
Nxt2 C T X: 141,020,747 (GRCm39) A118V possibly damaging Het
Or12k7 T C 2: 36,959,052 (GRCm39) L245P probably damaging Het
Or8h8 T A 2: 86,752,998 (GRCm39) R293W probably damaging Het
Pccb T A 9: 100,869,908 (GRCm39) N341I probably damaging Het
Pgm3 G A 9: 86,447,662 (GRCm39) L194F probably damaging Het
Prkra T A 2: 76,478,193 (GRCm39) H3L probably benign Het
Rbm12 TATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC TATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC 2: 155,938,030 (GRCm39) probably benign Het
Ryr1 T A 7: 28,803,989 (GRCm39) K600* probably null Het
Sema4d A T 13: 51,877,596 (GRCm39) S79T probably benign Het
Slc37a1 T C 17: 31,534,486 (GRCm39) C53R probably damaging Het
Sptbn1 A G 11: 30,087,526 (GRCm39) I971T probably damaging Het
Tcstv1a T A 13: 120,355,453 (GRCm39) I60F possibly damaging Het
Tdrkh G T 3: 94,335,598 (GRCm39) C397F possibly damaging Het
Tecrl A T 5: 83,427,906 (GRCm39) M314K possibly damaging Het
Ttn T C 2: 76,780,496 (GRCm39) K1131R unknown Het
Uimc1 A T 13: 55,198,584 (GRCm39) Y531N possibly damaging Het
Usp5 A G 6: 124,803,384 (GRCm39) S39P probably damaging Het
Virma A G 4: 11,498,744 (GRCm39) T62A probably benign Het
Vmn2r85 A G 10: 130,254,153 (GRCm39) Y844H probably benign Het
Yars1 T C 4: 129,109,143 (GRCm39) V458A probably benign Het
Zfp235 G A 7: 23,841,453 (GRCm39) C624Y probably damaging Het
Zfp712 A T 13: 67,189,241 (GRCm39) S429T probably damaging Het
Zmynd11 A T 13: 9,743,495 (GRCm39) D307E probably damaging Het
Other mutations in Or52h2
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4403001:Or52h2 UTSW 7 103,838,667 (GRCm39) missense probably benign 0.24
R0285:Or52h2 UTSW 7 103,838,531 (GRCm39) nonsense probably null
R1203:Or52h2 UTSW 7 103,839,060 (GRCm39) nonsense probably null
R1448:Or52h2 UTSW 7 103,839,082 (GRCm39) missense possibly damaging 0.81
R4514:Or52h2 UTSW 7 103,838,598 (GRCm39) missense probably benign 0.00
R4925:Or52h2 UTSW 7 103,839,387 (GRCm39) missense possibly damaging 0.85
R6023:Or52h2 UTSW 7 103,838,880 (GRCm39) missense probably damaging 1.00
R7659:Or52h2 UTSW 7 103,839,394 (GRCm39) missense probably benign 0.33
R8049:Or52h2 UTSW 7 103,839,017 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGATGGCTATGAGGATCACATC -3'
(R):5'- TGTTGGCCATGACTGACCTC -3'

Sequencing Primer
(F):5'- CTATAATCACTGTCATGATGGGGAC -3'
(R):5'- GGCCATGACTGACCTCATATTG -3'
Posted On 2021-12-30