Incidental Mutation 'R0254:Or51a42'
ID 34566
Institutional Source Beutler Lab
Gene Symbol Or51a42
Ensembl Gene ENSMUSG00000109824
Gene Name olfactory receptor family 51 subfamily A member 42
Synonyms MOR13-2, Olfr643, GA_x6K02T2PBJ9-6793628-6792684
MMRRC Submission 038485-MU
Accession Numbers
Essential gene? Not available question?
Stock # R0254 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 103707863-103708807 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103708728 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 27 (H27R)
Ref Sequence ENSEMBL: ENSMUSP00000150133 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074064] [ENSMUST00000138055] [ENSMUST00000217217]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000074064
AA Change: H27R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000073707
Gene: ENSMUSG00000090219
AA Change: H27R

DomainStartEndE-ValueType
Pfam:7tm_4 33 312 2.6e-124 PFAM
Pfam:7TM_GPCR_Srsx 37 255 3.1e-7 PFAM
Pfam:7tm_1 43 294 3.2e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138055
SMART Domains Protein: ENSMUSP00000139240
Gene: ENSMUSG00000109824

DomainStartEndE-ValueType
transmembrane domain 29 51 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000217217
AA Change: H27R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.7%
Validation Efficiency 100% (100/100)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T A 6: 146,853,902 (GRCm39) M252L probably benign Het
Abca6 A G 11: 110,127,615 (GRCm39) V314A probably benign Het
Abcb1b A T 5: 8,877,409 (GRCm39) E656D probably benign Het
Abhd4 T C 14: 54,500,691 (GRCm39) I160T probably benign Het
Aco2 T C 15: 81,773,557 (GRCm39) V32A probably damaging Het
Actl6b A G 5: 137,552,406 (GRCm39) probably benign Het
Akap13 T C 7: 75,386,352 (GRCm39) probably benign Het
Alpk3 A T 7: 80,726,722 (GRCm39) T136S probably benign Het
Ap1g1 G T 8: 110,529,749 (GRCm39) M56I probably benign Het
Arid2 C T 15: 96,268,452 (GRCm39) T855I probably damaging Het
Asprv1 T C 6: 86,606,077 (GRCm39) F308L probably damaging Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
Atp11b T A 3: 35,866,259 (GRCm39) M378K possibly damaging Het
Atp1a3 T C 7: 24,680,937 (GRCm39) probably benign Het
Blk C A 14: 63,618,253 (GRCm39) A218S probably benign Het
C4b T A 17: 34,953,750 (GRCm39) T953S probably benign Het
Cdadc1 T C 14: 59,813,356 (GRCm39) probably benign Het
Cdca2 C A 14: 67,914,627 (GRCm39) L877F probably damaging Het
Ceacam10 G T 7: 24,477,733 (GRCm39) V83L probably damaging Het
Cep290 A T 10: 100,350,436 (GRCm39) I677F probably benign Het
Clip1 A T 5: 123,755,395 (GRCm39) probably benign Het
Col11a2 G T 17: 34,283,777 (GRCm39) probably benign Het
Coro1c A T 5: 113,983,313 (GRCm39) V405D probably benign Het
Crebrf A G 17: 26,958,568 (GRCm39) T13A probably benign Het
Cspg4 A G 9: 56,804,694 (GRCm39) E1835G probably damaging Het
Cubn A T 2: 13,480,846 (GRCm39) probably null Het
Cubn T C 2: 13,429,505 (GRCm39) N1332S probably benign Het
Cubn T C 2: 13,445,325 (GRCm39) T1014A possibly damaging Het
Efnb1 T C X: 98,180,634 (GRCm39) probably benign Het
Elf2 G T 3: 51,215,611 (GRCm39) P33Q probably damaging Het
Fap C T 2: 62,333,746 (GRCm39) G633D probably damaging Het
Gm10288 T C 3: 146,544,675 (GRCm39) noncoding transcript Het
Got2 T C 8: 96,596,166 (GRCm39) N318S probably benign Het
Guk1 A T 11: 59,076,854 (GRCm39) F76L probably damaging Het
H2-K2 A T 17: 34,215,639 (GRCm39) probably benign Het
Helz2 C A 2: 180,874,552 (GRCm39) G1981C probably damaging Het
Hinfp G A 9: 44,209,536 (GRCm39) H250Y probably damaging Het
Hnrnpm C T 17: 33,871,242 (GRCm39) probably null Het
Hsd11b2 T A 8: 106,249,699 (GRCm39) V270E possibly damaging Het
Igbp1b A T 6: 138,635,201 (GRCm39) M81K probably damaging Het
Kif11 A G 19: 37,399,957 (GRCm39) T815A probably benign Het
Kit G A 5: 75,781,581 (GRCm39) V337I probably benign Het
Klf11 T C 12: 24,703,582 (GRCm39) S6P probably damaging Het
Klk13 T C 7: 43,373,245 (GRCm39) V193A probably benign Het
Krt73 T A 15: 101,708,324 (GRCm39) probably benign Het
L1td1 T A 4: 98,625,419 (GRCm39) L538* probably null Het
Macf1 A G 4: 123,326,572 (GRCm39) L2061P probably damaging Het
Mcm2 A G 6: 88,860,998 (GRCm39) I900T probably damaging Het
Med16 A T 10: 79,736,034 (GRCm39) N371K possibly damaging Het
Mepce A C 5: 137,783,698 (GRCm39) D209E possibly damaging Het
Mrc2 C G 11: 105,238,692 (GRCm39) P1249R probably benign Het
Mx2 A T 16: 97,357,295 (GRCm39) I463L probably benign Het
Naaa A T 5: 92,412,994 (GRCm39) N73K probably damaging Het
Nags T A 11: 102,038,771 (GRCm39) L404Q probably damaging Het
Neb A G 2: 52,133,402 (GRCm39) Y3379H probably damaging Het
Nhsl1 A G 10: 18,348,733 (GRCm39) E120G probably damaging Het
Or11j4 T C 14: 50,630,536 (GRCm39) S108P probably damaging Het
Or4f53 A C 2: 111,087,466 (GRCm39) N2T probably benign Het
Or51ah3 T A 7: 103,209,829 (GRCm39) Y48* probably null Het
Or51f5 C A 7: 102,424,076 (GRCm39) S115* probably null Het
Pcnt A G 10: 76,228,414 (GRCm39) F1584L probably benign Het
Pdgfra G A 5: 75,328,596 (GRCm39) V243I probably damaging Het
Polr2a T C 11: 69,634,497 (GRCm39) I689V possibly damaging Het
Ppfia4 C A 1: 134,251,962 (GRCm39) probably benign Het
Prmt8 C A 6: 127,688,771 (GRCm39) V200L probably damaging Het
Prpf8 T A 11: 75,397,188 (GRCm39) I2007N possibly damaging Het
Ptpn6 T C 6: 124,705,113 (GRCm39) E230G probably damaging Het
R3hcc1l G A 19: 42,551,587 (GRCm39) V195I probably damaging Het
Rb1cc1 C T 1: 6,333,071 (GRCm39) T1330I probably damaging Het
Reep3 G T 10: 66,857,575 (GRCm39) T172N probably benign Het
Rfwd3 A G 8: 112,020,655 (GRCm39) V236A probably benign Het
Rgs22 T C 15: 36,104,698 (GRCm39) I121V probably damaging Het
Robo1 T A 16: 72,461,058 (GRCm39) F11I probably benign Het
Rsrc2 A G 5: 123,878,910 (GRCm39) probably benign Het
Rubcn A G 16: 32,668,316 (GRCm39) V117A probably benign Het
Scamp1 T G 13: 94,347,088 (GRCm39) N192T probably benign Het
Scn8a T A 15: 100,916,245 (GRCm39) I1218N probably damaging Het
Serinc1 A G 10: 57,399,304 (GRCm39) S200P probably damaging Het
Serpinb9f T A 13: 33,518,574 (GRCm39) F358Y probably damaging Het
Slc12a5 T C 2: 164,839,165 (GRCm39) probably null Het
Slc5a4b T C 10: 75,906,462 (GRCm39) M386V possibly damaging Het
Smarca5 A G 8: 81,431,329 (GRCm39) F963L probably benign Het
Smchd1 A T 17: 71,718,886 (GRCm39) F828I probably benign Het
Smr2l A T 5: 88,430,230 (GRCm39) H42L possibly damaging Het
Stab2 G T 10: 86,733,824 (GRCm39) Q1333K probably benign Het
Svop T C 5: 114,176,600 (GRCm39) S349G probably benign Het
Tdrd1 G A 19: 56,830,998 (GRCm39) S271N probably benign Het
Tec G A 5: 72,941,081 (GRCm39) P159S probably benign Het
Tec T C 5: 72,920,899 (GRCm39) probably benign Het
Tfip11 G A 5: 112,483,521 (GRCm39) M645I probably benign Het
Thap12 A T 7: 98,364,488 (GRCm39) T219S probably benign Het
Tmem87a C T 2: 120,205,988 (GRCm39) R329H probably damaging Het
Tpsab1 A G 17: 25,562,719 (GRCm39) Y227H probably damaging Het
Urah G A 7: 140,417,602 (GRCm39) V114I probably benign Het
Wnt5a G A 14: 28,244,811 (GRCm39) E353K probably damaging Het
Zfp1004 G A 2: 150,033,784 (GRCm39) R35K possibly damaging Het
Zfp101 A T 17: 33,599,952 (GRCm39) H601Q possibly damaging Het
Other mutations in Or51a42
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Or51a42 APN 7 103,708,623 (GRCm39) missense probably damaging 1.00
IGL00958:Or51a42 APN 7 103,708,620 (GRCm39) missense probably benign 0.14
IGL02319:Or51a42 APN 7 103,708,140 (GRCm39) missense probably damaging 1.00
IGL03184:Or51a42 APN 7 103,708,054 (GRCm39) missense probably damaging 0.97
R0850:Or51a42 UTSW 7 103,708,252 (GRCm39) missense probably benign
R1443:Or51a42 UTSW 7 103,707,930 (GRCm39) missense probably damaging 1.00
R1544:Or51a42 UTSW 7 103,708,431 (GRCm39) missense probably damaging 0.99
R1669:Or51a42 UTSW 7 103,708,516 (GRCm39) missense probably benign 0.32
R1990:Or51a42 UTSW 7 103,708,335 (GRCm39) missense possibly damaging 0.96
R2207:Or51a42 UTSW 7 103,708,612 (GRCm39) missense probably damaging 1.00
R4456:Or51a42 UTSW 7 103,708,507 (GRCm39) missense possibly damaging 0.70
R4719:Or51a42 UTSW 7 103,707,940 (GRCm39) missense probably damaging 1.00
R5519:Or51a42 UTSW 7 103,708,504 (GRCm39) nonsense probably null
Z1088:Or51a42 UTSW 7 103,708,523 (GRCm39) missense possibly damaging 0.80
Predicted Primers PCR Primer
(F):5'- ACATCACACGGGCATCAGTGAG -3'
(R):5'- TTTCCAGGTAATTCCAGTGCCACAG -3'

Sequencing Primer
(F):5'- TAGCGATCAAAGCTCATGGC -3'
(R):5'- GCCACAGCTCAGACTTTTCAG -3'
Posted On 2013-05-09