Incidental Mutation 'R4562:Or4f4b'
ID 343122
Institutional Source Beutler Lab
Gene Symbol Or4f4b
Ensembl Gene ENSMUSG00000061195
Gene Name olfactory receptor family 4 subfamily F member 4B
Synonyms MOR245-6, GA_x6K02T2Q125-72534883-72535821, Olfr1289
MMRRC Submission 041787-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # R4562 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 111313777-111314673 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 111313909 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 45 (M45L)
Ref Sequence ENSEMBL: ENSMUSP00000147119 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102551] [ENSMUST00000104889] [ENSMUST00000120021] [ENSMUST00000207494] [ENSMUST00000214816] [ENSMUST00000217611]
AlphaFold A0A288CFY5
Predicted Effect probably benign
Transcript: ENSMUST00000102551
AA Change: M45L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099611
Gene: ENSMUSG00000108908
AA Change: M45L

DomainStartEndE-ValueType
Pfam:7tm_4 17 289 6e-45 PFAM
Pfam:7TM_GPCR_Srsx 20 288 1.4e-7 PFAM
Pfam:7tm_1 27 273 7e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000104889
SMART Domains Protein: ENSMUSP00000100485
Gene: ENSMUSG00000044039

DomainStartEndE-ValueType
Pfam:7tm_4 31 304 1.3e-43 PFAM
Pfam:7tm_1 41 287 2.5e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120021
AA Change: M73L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000207494
AA Change: M45L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000214816
Predicted Effect probably benign
Transcript: ENSMUST00000217611
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225425
Meta Mutation Damage Score 0.1104 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 100% (53/53)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 G A 3: 36,120,331 (GRCm39) R25K probably benign Het
Acap1 C T 11: 69,776,177 (GRCm39) probably benign Het
Aox1 T C 1: 58,098,215 (GRCm39) L309P probably damaging Het
Asap2 A G 12: 21,162,094 (GRCm39) D17G probably damaging Het
Atp8b1 A T 18: 64,689,962 (GRCm39) V590D probably damaging Het
Bace2 G A 16: 97,223,180 (GRCm39) R368Q probably damaging Het
Cad G A 5: 31,215,477 (GRCm39) S96N possibly damaging Het
Csmd3 T C 15: 47,763,240 (GRCm39) T1303A probably benign Het
Defa24 A G 8: 22,224,523 (GRCm39) probably benign Het
Dffb A G 4: 154,049,913 (GRCm39) C317R probably damaging Het
Erap1 T C 13: 74,821,778 (GRCm39) V711A probably benign Het
Esco1 A G 18: 10,595,074 (GRCm39) S71P possibly damaging Het
Evpl G A 11: 116,124,225 (GRCm39) T198M possibly damaging Het
Gm10797 A G 10: 67,408,515 (GRCm39) noncoding transcript Het
Gm10822 C T 2: 73,729,833 (GRCm39) noncoding transcript Het
Huwe1 A T X: 150,646,955 (GRCm39) I682F probably damaging Het
Ift22 A G 5: 136,941,724 (GRCm39) E152G probably benign Het
Ighv3-5 T A 12: 114,226,498 (GRCm39) T25S possibly damaging Het
Ivl CCTGCTGCTGCT CCTGCTGCTGCTGCT 3: 92,479,262 (GRCm39) probably benign Het
Kcna5 T C 6: 126,511,303 (GRCm39) H275R probably benign Het
Kdm7a C T 6: 39,129,757 (GRCm39) R473Q probably damaging Het
Klf14 G A 6: 30,935,394 (GRCm39) A80V probably damaging Het
Lrrc71 T A 3: 87,652,715 (GRCm39) probably benign Het
Lypd8 T A 11: 58,273,215 (GRCm39) probably null Het
Mef2b G A 8: 70,619,918 (GRCm39) D345N probably damaging Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Mtmr10 C T 7: 63,963,907 (GRCm39) T214M possibly damaging Het
Or10g9b A G 9: 39,917,577 (GRCm39) S223P probably damaging Het
Or13g1 A G 7: 85,956,360 (GRCm39) probably benign Het
Orc1 T C 4: 108,459,252 (GRCm39) probably null Het
P4htm T C 9: 108,459,195 (GRCm39) S246G probably null Het
Pax2 A G 19: 44,824,402 (GRCm39) Y374C unknown Het
Pde6b A G 5: 108,551,234 (GRCm39) K173E probably benign Het
Pde8a T A 7: 80,958,568 (GRCm39) Y315* probably null Het
Plekhh2 A G 17: 84,873,525 (GRCm39) D270G probably benign Het
Prr5 A C 15: 84,626,114 (GRCm39) D63A probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Ryr1 C A 7: 28,774,005 (GRCm39) probably benign Het
Slc4a1ap G A 5: 31,689,373 (GRCm39) V347M probably damaging Het
Tasor A G 14: 27,188,265 (GRCm39) T904A possibly damaging Het
Tln1 C A 4: 43,533,598 (GRCm39) A2319S probably damaging Het
Tm6sf1 G A 7: 81,509,209 (GRCm39) A5T probably damaging Het
Tmem117 A T 15: 94,992,677 (GRCm39) M446L probably benign Het
Tnfrsf22 C T 7: 143,203,313 (GRCm39) R19Q unknown Het
Tnfsf11 T C 14: 78,516,020 (GRCm39) D316G probably damaging Het
Trerf1 G A 17: 47,637,997 (GRCm39) noncoding transcript Het
Ttc13 A G 8: 125,402,016 (GRCm39) L657P probably damaging Het
Unc79 C T 12: 102,957,720 (GRCm39) T45I probably damaging Het
Usp3 G T 9: 66,428,047 (GRCm39) probably benign Het
Vmn2r-ps158 C T 7: 42,672,986 (GRCm39) Q130* probably null Het
Wdr31 A C 4: 62,372,159 (GRCm39) L319W probably damaging Het
Zfp947 G T 17: 22,365,124 (GRCm39) Y183* probably null Het
Other mutations in Or4f4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01149:Or4f4b APN 2 111,314,446 (GRCm39) missense probably damaging 1.00
IGL01682:Or4f4b APN 2 111,314,188 (GRCm39) missense probably damaging 1.00
IGL02028:Or4f4b APN 2 111,313,816 (GRCm39) missense probably benign 0.01
IGL02731:Or4f4b APN 2 111,313,873 (GRCm39) missense probably benign 0.00
IGL03035:Or4f4b APN 2 111,314,168 (GRCm39) missense probably benign 0.04
R1214:Or4f4b UTSW 2 111,314,237 (GRCm39) missense probably damaging 1.00
R1471:Or4f4b UTSW 2 111,314,351 (GRCm39) missense probably damaging 1.00
R1714:Or4f4b UTSW 2 111,314,008 (GRCm39) missense probably damaging 1.00
R2088:Or4f4b UTSW 2 111,314,623 (GRCm39) missense probably damaging 1.00
R2136:Or4f4b UTSW 2 111,313,961 (GRCm39) missense probably damaging 1.00
R2141:Or4f4b UTSW 2 111,313,975 (GRCm39) missense probably benign 0.23
R3945:Or4f4b UTSW 2 111,314,032 (GRCm39) nonsense probably null
R4276:Or4f4b UTSW 2 111,313,849 (GRCm39) missense probably damaging 1.00
R4896:Or4f4b UTSW 2 111,314,005 (GRCm39) missense possibly damaging 0.82
R4946:Or4f4b UTSW 2 111,314,311 (GRCm39) missense possibly damaging 0.93
R5004:Or4f4b UTSW 2 111,314,005 (GRCm39) missense possibly damaging 0.82
R5686:Or4f4b UTSW 2 111,314,488 (GRCm39) missense probably damaging 1.00
R6032:Or4f4b UTSW 2 111,314,195 (GRCm39) missense probably damaging 1.00
R6032:Or4f4b UTSW 2 111,314,195 (GRCm39) missense probably damaging 1.00
R6960:Or4f4b UTSW 2 111,314,071 (GRCm39) missense possibly damaging 0.70
R7293:Or4f4b UTSW 2 111,313,699 (GRCm39) splice site probably null
R7642:Or4f4b UTSW 2 111,313,823 (GRCm39) missense probably damaging 0.96
R8429:Or4f4b UTSW 2 111,313,840 (GRCm39) missense possibly damaging 0.55
R8447:Or4f4b UTSW 2 111,314,101 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCAAGTGCAGAGACTCTCTTC -3'
(R):5'- ATCTATCAAAGGCCATGGCTAC -3'

Sequencing Primer
(F):5'- AGTGCAGAGACTCTCTTCTGGAATC -3'
(R):5'- ATGGCTACAAGGGTTACCATCTC -3'
Posted On 2015-09-24