Incidental Mutation 'R4276:Or4f4b'
ID 322691
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 041647-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R4276 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 111313777-111314673 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 111313849 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 25 (V25L)
Ref Sequence ENSEMBL: ENSMUSP00000147119 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102551] [ENSMUST00000104889] [ENSMUST00000120021] [ENSMUST00000207494] [ENSMUST00000214816] [ENSMUST00000217611]
AlphaFold A0A288CFY5
Predicted Effect probably damaging
Transcript: ENSMUST00000102551
AA Change: V25L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099611
Gene: ENSMUSG00000108908
AA Change: V25L

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 damaging
Transcript: ENSMUST00000120021
AA Change: V53L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000207494
AA Change: V25L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000214816
Predicted Effect probably benign
Transcript: ENSMUST00000217611
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225425
Meta Mutation Damage Score 0.2836 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 98% (46/47)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad8 C A 9: 26,889,745 (GRCm39) Q316H probably null Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Brix1 T C 15: 10,481,833 (GRCm39) D101G possibly damaging Het
Cfap36 A G 11: 29,180,584 (GRCm39) probably null Het
Chrnb3 A G 8: 27,883,779 (GRCm39) N172S probably damaging Het
Csnk1e T C 15: 79,313,967 (GRCm39) N37S probably damaging Het
Ern1 T C 11: 106,298,007 (GRCm39) I705V probably benign Het
Gimap8 T C 6: 48,636,017 (GRCm39) M594T probably benign Het
Gm6578 G A 6: 12,100,187 (GRCm39) noncoding transcript Het
Gpc6 A G 14: 117,673,328 (GRCm39) D195G probably damaging Het
Gpcpd1 T C 2: 132,382,207 (GRCm39) K412E probably damaging Het
Insm1 C A 2: 146,064,888 (GRCm39) H235N probably benign Het
Jmjd8 A G 17: 26,048,787 (GRCm39) probably benign Het
Kbtbd8 T C 6: 95,103,914 (GRCm39) V521A probably damaging Het
Kcna5 T C 6: 126,510,329 (GRCm39) T600A probably damaging Het
Kctd6 G C 14: 8,222,806 (GRCm38) R216P probably damaging Het
Lbx1 C A 19: 45,223,528 (GRCm39) V47L probably benign Het
Mefv A T 16: 3,533,433 (GRCm39) N279K probably benign Het
Mroh1 T G 15: 76,278,051 (GRCm39) V24G probably damaging Het
Nt5c1b A G 12: 10,424,886 (GRCm39) E142G probably damaging Het
Or8u3-ps G A 2: 85,952,623 (GRCm39) A119T probably damaging Het
Padi2 A G 4: 140,663,859 (GRCm39) E404G possibly damaging Het
Pitpnb A G 5: 111,519,258 (GRCm39) probably null Het
Plxna4 T C 6: 32,177,883 (GRCm39) N1006S probably benign Het
Proc A G 18: 32,268,967 (GRCm39) V6A probably benign Het
Prrc2c T A 1: 162,501,160 (GRCm39) K1214N probably damaging Het
Pstpip2 A G 18: 77,949,556 (GRCm39) I122V probably benign Het
Pus10 A G 11: 23,656,895 (GRCm39) E207G probably damaging Het
Rabl2 G A 15: 89,468,391 (GRCm39) probably benign Het
Rbp3 G A 14: 33,680,607 (GRCm39) V1070I probably benign Het
Rtl6 T A 15: 84,441,397 (GRCm39) probably benign Het
Scn7a T G 2: 66,514,407 (GRCm39) K1122N probably damaging Het
Spag16 A G 1: 69,912,640 (GRCm39) probably benign Het
Spata13 C T 14: 60,993,745 (GRCm39) R396C probably damaging Het
Stmn4 A T 14: 66,593,166 (GRCm39) probably benign Het
Syp G T X: 7,504,931 (GRCm39) probably benign Het
Tmem260 C T 14: 48,715,093 (GRCm39) T249M probably damaging Het
Tnrc6b A G 15: 80,786,172 (GRCm39) I1239V probably benign Het
Ubr3 C T 2: 69,768,731 (GRCm39) Q510* probably null Het
Vegfa A G 17: 46,342,392 (GRCm39) V142A probably benign Het
Vmn2r93 T C 17: 18,525,092 (GRCm39) I250T possibly damaging 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
R4562:Or4f4b UTSW 2 111,313,909 (GRCm39) missense probably benign 0.00
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'- CAAGACCTTAATGGGTGAGCAG -3'
(R):5'- AGCCCTTAACAGAGATGACTTTG -3'

Sequencing Primer
(F):5'- CCTTAATGGGTGAGCAGAGGTAAG -3'
(R):5'- CCTTAACAGAGATGACTTTGCGTTTG -3'
Posted On 2015-06-20