Incidental Mutation 'R0623:Crlf2'
ID 58031
Institutional Source Beutler Lab
Gene Symbol Crlf2
Ensembl Gene ENSMUSG00000033467
Gene Name cytokine receptor-like factor 2
Synonyms Tslpr, Ly114, Tpte2
MMRRC Submission 038812-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.328) question?
Stock # R0623 (G1)
Quality Score 86
Status Not validated
Chromosome 5
Chromosomal Location 109702575-109706859 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 109705004 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Arginine at position 67 (P67R)
Ref Sequence ENSEMBL: ENSMUSP00000143641 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044579] [ENSMUST00000198960] [ENSMUST00000200284]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000044579
AA Change: P69R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000036326
Gene: ENSMUSG00000033467
AA Change: P69R

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 84 102 N/A INTRINSIC
FN3 117 196 2.58e-4 SMART
low complexity region 210 253 N/A INTRINSIC
low complexity region 335 347 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196881
Predicted Effect probably benign
Transcript: ENSMUST00000198960
SMART Domains Protein: ENSMUSP00000142982
Gene: ENSMUSG00000033467

DomainStartEndE-ValueType
Blast:FN3 1 52 2e-30 BLAST
SCOP:d1eerb2 1 65 7e-8 SMART
PDB:4NN7|C 1 66 2e-41 PDB
transmembrane domain 95 117 N/A INTRINSIC
low complexity region 202 214 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000200284
AA Change: P67R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143641
Gene: ENSMUSG00000033467
AA Change: P67R

DomainStartEndE-ValueType
low complexity region 82 100 N/A INTRINSIC
FN3 115 194 1.3e-6 SMART
low complexity region 208 251 N/A INTRINSIC
low complexity region 333 345 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 95.8%
Validation Efficiency
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 type I cytokine receptor family. The encoded protein is a receptor for thymic stromal lymphopoietin (TSLP). Together with the interleukin 7 receptor (IL7R), the encoded protein and TSLP activate STAT3, STAT5, and JAK2 pathways, which control processes such as cell proliferation and development of the hematopoietic system. Rearrangement of this gene with immunoglobulin heavy chain gene (IGH) on chromosome 14, or with P2Y purinoceptor 8 gene (P2RY8) on the same X or Y chromosomes is associated with B-progenitor acute lymphoblastic leukemia (ALL) and Down syndrome ALL. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]
PHENOTYPE: Homozygous null mice are overtly normal and maintain normal lymphopoiesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 1 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Jmy G A 13: 93,589,325 (GRCm39) T644I probably benign Het
Other mutations in Crlf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01160:Crlf2 APN 5 109,705,436 (GRCm39) missense possibly damaging 0.66
R0623:Crlf2 UTSW 5 109,705,004 (GRCm39) missense probably damaging 0.99
R0732:Crlf2 UTSW 5 109,705,004 (GRCm39) missense probably damaging 0.99
R0898:Crlf2 UTSW 5 109,705,004 (GRCm39) missense probably damaging 0.99
R1277:Crlf2 UTSW 5 109,705,466 (GRCm39) missense possibly damaging 0.46
R1674:Crlf2 UTSW 5 109,706,669 (GRCm39) critical splice donor site probably null
R1912:Crlf2 UTSW 5 109,705,007 (GRCm39) missense possibly damaging 0.83
R5276:Crlf2 UTSW 5 109,705,501 (GRCm39) unclassified probably benign
R5418:Crlf2 UTSW 5 109,704,899 (GRCm39) missense probably benign 0.05
R5984:Crlf2 UTSW 5 109,703,469 (GRCm39) missense probably damaging 1.00
R6848:Crlf2 UTSW 5 109,704,897 (GRCm39) missense possibly damaging 0.66
R7437:Crlf2 UTSW 5 109,702,839 (GRCm39) missense probably benign 0.12
R8404:Crlf2 UTSW 5 109,704,917 (GRCm39) missense probably benign 0.12
R8502:Crlf2 UTSW 5 109,704,917 (GRCm39) missense probably benign 0.12
Predicted Primers
Posted On 2013-07-11