Incidental Mutation 'R8251:Rbpjl'
ID 640227
Institutional Source Beutler Lab
Gene Symbol Rbpjl
Ensembl Gene ENSMUSG00000017007
Gene Name recombination signal binding protein for immunoglobulin kappa J region-like
Synonyms Rbpsuhl, RBP-J kappa-like, RBP-L
MMRRC Submission 067677-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8251 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 164245061-164257368 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 164255854 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 366 (E366G)
Ref Sequence ENSEMBL: ENSMUSP00000017151 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017151]
AlphaFold O08674
Predicted Effect probably damaging
Transcript: ENSMUST00000017151
AA Change: E366G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000017151
Gene: ENSMUSG00000017007
AA Change: E366G

DomainStartEndE-ValueType
LAG1_DNAbind 66 204 4.58e-78 SMART
BTD 205 357 1.23e-83 SMART
SCOP:d1a02n1 383 475 3e-22 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (50/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the suppressor of hairless protein family. A similar protein in mouse is a transcription factor that binds to DNA sequences almost identical to that bound by the Notch receptor signaling pathway transcription factor recombining binding protein J. The mouse protein has been shown to activate transcription in concert with Epstein-Barr virus nuclear antigen-2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene do not display any obvious phenotype abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad11 A T 9: 103,968,906 (GRCm39) D463V possibly damaging Het
Adamtsl4 C T 3: 95,591,884 (GRCm39) R68Q probably damaging Het
Ankrd12 A T 17: 66,291,554 (GRCm39) M1293K possibly damaging Het
Arhgap21 T C 2: 20,854,221 (GRCm39) T1724A probably benign Het
C1qtnf12 T C 4: 156,050,916 (GRCm39) I295T probably damaging Het
Cacna1s G T 1: 136,014,461 (GRCm39) G623W probably damaging Het
Cemip2 T C 19: 21,784,765 (GRCm39) V416A possibly damaging Het
Cenpe T A 3: 134,957,445 (GRCm39) probably null Het
Cep85l A T 10: 53,157,450 (GRCm39) I751N probably damaging Het
Corin T A 5: 72,514,269 (GRCm39) D468V probably damaging Het
Ctsr A G 13: 61,310,592 (GRCm39) V51A probably damaging Het
Dnah14 A C 1: 181,492,430 (GRCm39) E1630A probably damaging Het
Dsg4 C A 18: 20,604,221 (GRCm39) A896E probably damaging Het
Ear2 T C 14: 44,340,477 (GRCm39) L45P probably benign Het
Fshr T G 17: 89,507,913 (GRCm39) D43A probably benign Het
Gata6 G A 18: 11,054,670 (GRCm39) G200S probably benign Het
Gnaq T A 19: 16,312,419 (GRCm39) M227K probably damaging Het
Ifit1bl1 T C 19: 34,572,232 (GRCm39) Q75R possibly damaging Het
Impg2 A G 16: 56,079,960 (GRCm39) E479G possibly damaging Het
Ints7 C T 1: 191,353,545 (GRCm39) P957L unknown Het
Jmjd1c T C 10: 67,075,068 (GRCm39) V73A noncoding transcript Het
Kansl1 A G 11: 104,315,186 (GRCm39) I284T probably benign Het
Kcnj9 A G 1: 172,154,089 (GRCm39) S12P probably benign Het
Krt16 A G 11: 100,139,196 (GRCm39) probably null Het
Lrguk A T 6: 34,093,374 (GRCm39) T632S probably benign Het
Man2b1 G A 8: 85,821,758 (GRCm39) V687M probably damaging Het
Mroh5 T C 15: 73,655,002 (GRCm39) E653G probably benign Het
Nabp1 A T 1: 51,516,737 (GRCm39) S44T probably benign Het
Nt5dc3 C A 10: 86,656,091 (GRCm39) H256Q probably damaging Het
Or1j15 A C 2: 36,459,467 (GRCm39) N286H probably damaging Het
Or4a81 A T 2: 89,619,567 (GRCm39) I43N probably damaging Het
Or5p50 A G 7: 107,421,776 (GRCm39) I300T probably damaging Het
Pkd2 T C 5: 104,646,353 (GRCm39) V720A probably benign Het
Pnpla6 T A 8: 3,582,399 (GRCm39) N706K probably benign Het
Polr1b C A 2: 128,965,086 (GRCm39) P724Q probably damaging Het
Runx1t1 A G 4: 13,846,947 (GRCm39) T244A possibly damaging Het
Slitrk3 C T 3: 72,956,729 (GRCm39) R681H possibly damaging Het
Slu7 A G 11: 43,330,128 (GRCm39) Y185C probably damaging Het
Snupn T A 9: 56,888,137 (GRCm39) F231L probably damaging Het
Srpk2 G A 5: 23,729,266 (GRCm39) P458S probably benign Het
St3gal5 T A 6: 72,126,144 (GRCm39) F330I probably benign Het
Taf3 T C 2: 9,922,962 (GRCm39) D878G possibly damaging Het
Tex44 A G 1: 86,354,936 (GRCm39) N282D probably benign Het
Tmem126a T C 7: 90,100,094 (GRCm39) I150V probably benign Het
Trbv21 A G 6: 41,179,540 (GRCm39) probably benign Het
Vmn2r70 A T 7: 85,215,186 (GRCm39) L116* probably null Het
Vps36 A G 8: 22,682,932 (GRCm39) T16A probably benign Het
Wdr17 C A 8: 55,110,267 (GRCm39) G837W probably damaging Het
Zfp397 T C 18: 24,093,361 (GRCm39) V282A probably benign Het
Other mutations in Rbpjl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01625:Rbpjl APN 2 164,249,705 (GRCm39) missense possibly damaging 0.74
IGL02429:Rbpjl APN 2 164,255,815 (GRCm39) missense possibly damaging 0.80
R2155:Rbpjl UTSW 2 164,256,343 (GRCm39) missense possibly damaging 0.80
R2244:Rbpjl UTSW 2 164,245,137 (GRCm39) intron probably benign
R2344:Rbpjl UTSW 2 164,256,312 (GRCm39) missense probably damaging 0.99
R4721:Rbpjl UTSW 2 164,246,447 (GRCm39) missense probably benign 0.08
R5023:Rbpjl UTSW 2 164,252,209 (GRCm39) missense probably damaging 1.00
R5492:Rbpjl UTSW 2 164,256,330 (GRCm39) frame shift probably null
R5493:Rbpjl UTSW 2 164,256,330 (GRCm39) frame shift probably null
R5494:Rbpjl UTSW 2 164,256,330 (GRCm39) frame shift probably null
R5556:Rbpjl UTSW 2 164,249,982 (GRCm39) missense probably benign 0.01
R5796:Rbpjl UTSW 2 164,252,168 (GRCm39) splice site probably benign
R6164:Rbpjl UTSW 2 164,252,799 (GRCm39) missense probably damaging 1.00
R7609:Rbpjl UTSW 2 164,247,734 (GRCm39) missense probably benign 0.05
R8025:Rbpjl UTSW 2 164,252,166 (GRCm39) splice site probably benign
R8068:Rbpjl UTSW 2 164,250,438 (GRCm39) missense possibly damaging 0.93
R8928:Rbpjl UTSW 2 164,250,313 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TATGGGTCTCACACAAGCTCC -3'
(R):5'- TGGGACCAGATGTAGGTGAC -3'

Sequencing Primer
(F):5'- CTCCCTGAGGCAGATAAACTGG -3'
(R):5'- TGGGTTAGAAGGAGCCTCC -3'
Posted On 2020-07-28