Incidental Mutation 'R6992:Or5b122'
ID 543943
Institutional Source Beutler Lab
Gene Symbol Or5b122
Ensembl Gene ENSMUSG00000096289
Gene Name olfactory receptor family 5 subfamily B member 122
Synonyms Olfr1484, MOR202-37, GA_x6K02T2RE5P-3917859-3918806
MMRRC Submission 045098-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R6992 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 13562670-13563617 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 13562811 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 48 (I48V)
Ref Sequence ENSEMBL: ENSMUSP00000150779 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074180] [ENSMUST00000208104] [ENSMUST00000215567] [ENSMUST00000216014] [ENSMUST00000216369] [ENSMUST00000217451]
AlphaFold Q8VEU6
Predicted Effect possibly damaging
Transcript: ENSMUST00000074180
AA Change: I48V

PolyPhen 2 Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000073811
Gene: ENSMUSG00000096289
AA Change: I48V

DomainStartEndE-ValueType
Pfam:7tm_4 30 306 7.4e-55 PFAM
Pfam:7TM_GPCR_Srsx 34 304 1.1e-5 PFAM
Pfam:7tm_1 40 289 3.7e-17 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000208104
AA Change: I5V

PolyPhen 2 Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215567
AA Change: I48V

PolyPhen 2 Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216014
AA Change: I48V

PolyPhen 2 Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216369
AA Change: I5V

PolyPhen 2 Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217451
AA Change: I48V

PolyPhen 2 Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (64/64)
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
4921539E11Rik C T 4: 103,099,990 (GRCm39) S171N possibly damaging Het
6030468B19Rik T G 11: 117,688,594 (GRCm39) M1R probably null Het
A730049H05Rik T C 6: 92,804,975 (GRCm39) probably benign Het
AC125199.3 G T 16: 88,608,915 (GRCm39) H52Q possibly damaging Het
Adam34 A T 8: 44,105,642 (GRCm39) M1K probably null Het
Adgrf5 T C 17: 43,763,214 (GRCm39) probably null Het
Antxr2 T C 5: 98,108,564 (GRCm39) T316A probably benign Het
Cc2d1a A T 8: 84,861,542 (GRCm39) V714D probably damaging Het
Cd96 A G 16: 45,870,087 (GRCm39) S461P possibly damaging Het
Cdc16 C A 8: 13,809,188 (GRCm39) A51E probably benign Het
Chd4 T A 6: 125,091,339 (GRCm39) D1243E probably benign Het
Cntf A T 19: 12,742,697 (GRCm39) I21N probably damaging Het
Col11a2 C T 17: 34,266,118 (GRCm39) A282V probably benign Het
Col14a1 T A 15: 55,274,958 (GRCm39) probably null Het
Cyp2b9 T C 7: 25,900,564 (GRCm39) Y401H probably benign Het
Dlgap4 A G 2: 156,590,860 (GRCm39) probably null Het
Fancd2 T C 6: 113,547,979 (GRCm39) probably null Het
Fcgbpl1 T A 7: 27,839,608 (GRCm39) F474I probably benign Het
Frem1 A G 4: 82,858,599 (GRCm39) V1622A possibly damaging Het
Golm1 ACTTCTTCT ACTTCT 13: 59,797,390 (GRCm39) probably benign Het
Gstm4 A G 3: 107,951,981 (GRCm39) M3T possibly damaging Het
Hdac10 T C 15: 89,009,534 (GRCm39) D466G probably benign Het
Hook2 A G 8: 85,729,185 (GRCm39) E625G probably damaging Het
Hspbp1 G C 7: 4,667,714 (GRCm39) P260A probably benign Het
Igdcc3 C A 9: 65,088,853 (GRCm39) Q411K probably damaging Het
Il18rap G A 1: 40,581,195 (GRCm39) E356K probably benign Het
Inpp4a A T 1: 37,428,772 (GRCm39) M699L probably damaging Het
Klhdc1 A G 12: 69,300,531 (GRCm39) H157R probably damaging Het
Klhl6 G T 16: 19,772,337 (GRCm39) T336N probably damaging Het
Marchf7 T C 2: 60,059,428 (GRCm39) probably null Het
Mast4 C T 13: 102,941,155 (GRCm39) V301I probably damaging Het
Mlh3 T A 12: 85,282,494 (GRCm39) N1412Y probably damaging Het
Mrps27 A G 13: 99,541,522 (GRCm39) M209V probably benign Het
Mtor A T 4: 148,548,932 (GRCm39) T572S probably benign Het
Neurog1 T C 13: 56,399,363 (GRCm39) K128R probably damaging Het
Or10g6 T A 9: 39,933,896 (GRCm39) L69* probably null Het
Or2b4 T A 17: 38,116,754 (GRCm39) N239K probably damaging Het
Pcdhgb1 A G 18: 37,814,652 (GRCm39) K381R probably benign Het
Pdzd2 T C 15: 12,457,945 (GRCm39) D306G probably damaging Het
Plekha5 C T 6: 140,489,634 (GRCm39) T237I probably damaging Het
Plscr1l1 T C 9: 92,236,725 (GRCm39) M128T probably benign Het
Pole A T 5: 110,480,365 (GRCm39) I103F probably damaging Het
Ppfia2 A T 10: 106,310,715 (GRCm39) Q74L possibly damaging Het
Ppm1d T C 11: 85,223,178 (GRCm39) F261S probably damaging Het
Psg21 A T 7: 18,388,668 (GRCm39) probably null Het
Ptprg T A 14: 11,962,602 (GRCm38) F133L probably damaging Het
Rom1 G A 19: 8,906,569 (GRCm39) probably benign Het
Rtn3 A G 19: 7,412,489 (GRCm39) F762L probably damaging Het
Sec23ip T C 7: 128,367,164 (GRCm39) S600P probably benign Het
Sema4b T A 7: 79,869,900 (GRCm39) I396N probably damaging Het
Serpina3k T A 12: 104,307,366 (GRCm39) D199E probably benign Het
Slc19a1 A G 10: 76,885,540 (GRCm39) D480G possibly damaging Het
Slc8b1 G A 5: 120,665,880 (GRCm39) V404M probably damaging Het
Slco1a4 T C 6: 141,765,330 (GRCm39) D304G probably benign Het
Smpdl3b G T 4: 132,472,452 (GRCm39) A107D possibly damaging Het
Tesk1 A G 4: 43,447,006 (GRCm39) T465A probably benign Het
Tmem245 A G 4: 56,937,940 (GRCm39) F203L probably benign Het
Tnip1 T A 11: 54,809,542 (GRCm39) I442F probably benign Het
Txnip A G 3: 96,466,439 (GRCm39) K127R possibly damaging Het
Usp32 A C 11: 84,922,914 (GRCm39) L172R probably damaging Het
Vmn2r66 A G 7: 84,654,436 (GRCm39) S508P possibly damaging Het
Vwa5b2 T A 16: 20,416,952 (GRCm39) Y550N probably damaging Het
Wdr81 G A 11: 75,342,612 (GRCm39) A885V probably benign Het
Other mutations in Or5b122
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02029:Or5b122 APN 19 13,563,468 (GRCm39) missense probably benign 0.05
IGL02104:Or5b122 APN 19 13,562,968 (GRCm39) missense probably damaging 0.99
IGL02502:Or5b122 APN 19 13,563,112 (GRCm39) missense probably damaging 1.00
IGL03339:Or5b122 APN 19 13,563,439 (GRCm39) missense probably damaging 0.99
IGL03391:Or5b122 APN 19 13,563,483 (GRCm39) missense probably benign
R0008:Or5b122 UTSW 19 13,563,240 (GRCm39) missense probably benign 0.01
R0607:Or5b122 UTSW 19 13,563,534 (GRCm39) missense probably damaging 1.00
R0892:Or5b122 UTSW 19 13,562,881 (GRCm39) missense probably damaging 1.00
R1170:Or5b122 UTSW 19 13,563,577 (GRCm39) missense probably benign 0.00
R1605:Or5b122 UTSW 19 13,562,994 (GRCm39) missense probably benign 0.00
R1619:Or5b122 UTSW 19 13,562,978 (GRCm39) missense probably benign 0.03
R1793:Or5b122 UTSW 19 13,562,779 (GRCm39) missense probably benign 0.42
R2073:Or5b122 UTSW 19 13,562,965 (GRCm39) missense probably damaging 1.00
R2348:Or5b122 UTSW 19 13,563,553 (GRCm39) missense probably damaging 0.99
R5025:Or5b122 UTSW 19 13,562,886 (GRCm39) missense probably benign 0.03
R5383:Or5b122 UTSW 19 13,563,439 (GRCm39) missense probably damaging 0.99
R5771:Or5b122 UTSW 19 13,562,872 (GRCm39) missense probably damaging 0.98
R6002:Or5b122 UTSW 19 13,562,781 (GRCm39) start gained probably benign
R7404:Or5b122 UTSW 19 13,562,752 (GRCm39) missense possibly damaging 0.88
R8358:Or5b122 UTSW 19 13,562,764 (GRCm39) missense probably damaging 0.97
R8939:Or5b122 UTSW 19 13,562,860 (GRCm39) missense probably damaging 0.96
RF002:Or5b122 UTSW 19 13,563,415 (GRCm39) missense probably damaging 1.00
X0019:Or5b122 UTSW 19 13,563,573 (GRCm39) missense probably damaging 1.00
X0019:Or5b122 UTSW 19 13,563,572 (GRCm39) missense probably null 0.00
X0040:Or5b122 UTSW 19 13,563,573 (GRCm39) missense probably damaging 1.00
X0040:Or5b122 UTSW 19 13,563,572 (GRCm39) missense probably null 0.00
X0067:Or5b122 UTSW 19 13,563,436 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCGCTTGCTGATGTCAAAATAC -3'
(R):5'- TGCTGCATGACGGTCATAG -3'

Sequencing Primer
(F):5'- GGGTTAACAGATGCACCA -3'
(R):5'- CATGACGGTCATAGGCCATTG -3'
Posted On 2019-05-13