Incidental Mutation 'R5984:Crlf2'
ID 481555
Institutional Source Beutler Lab
Gene Symbol Crlf2
Ensembl Gene ENSMUSG00000033467
Gene Name cytokine receptor-like factor 2
Synonyms Tslpr, Ly114, Tpte2
MMRRC Submission 043251-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.272) question?
Stock # R5984 (G1)
Quality Score 171.009
Status Not validated
Chromosome 5
Chromosomal Location 109702575-109706859 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 109703469 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 92 (P92L)
Ref Sequence ENSEMBL: ENSMUSP00000142982 (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: P225L

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000036326
Gene: ENSMUSG00000033467
AA Change: P225L

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 damaging
Transcript: ENSMUST00000198960
AA Change: P92L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142982
Gene: ENSMUSG00000033467
AA Change: P92L

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: P223L

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000143641
Gene: ENSMUSG00000033467
AA Change: P223L

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.1%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9830107B12Rik T A 17: 48,439,165 (GRCm39) L130F probably benign Het
Alox12 T C 11: 70,137,881 (GRCm39) T420A possibly damaging Het
Ano5 T C 7: 51,243,412 (GRCm39) I795T probably damaging Het
Atpsckmt C T 15: 31,617,065 (GRCm39) R99* probably null Het
Dgat1 T C 15: 76,386,458 (GRCm39) Y492C probably damaging Het
Dna2 G C 10: 62,798,285 (GRCm39) probably null Het
Dst A G 1: 34,211,344 (GRCm39) H982R probably benign Het
F13b A G 1: 139,435,950 (GRCm39) D252G probably damaging Het
Fgfr3 A T 5: 33,887,049 (GRCm39) E151V probably damaging Het
Gabpb1 T C 2: 126,488,573 (GRCm39) T264A probably damaging Het
Gemin5 T C 11: 58,047,587 (GRCm39) E329G probably damaging Het
Git1 C T 11: 77,397,309 (GRCm39) P721S possibly damaging Het
Hcn3 T C 3: 89,055,570 (GRCm39) E559G probably benign Het
Invs G A 4: 48,421,674 (GRCm39) A769T probably benign Het
Ism2 T A 12: 87,333,809 (GRCm39) T79S possibly damaging Het
Lamb1 G A 12: 31,377,773 (GRCm39) E1673K possibly damaging Het
Lmtk2 T A 5: 144,111,656 (GRCm39) L792H probably benign Het
Lnpk A T 2: 74,352,543 (GRCm39) S380T probably benign Het
Mff A G 1: 82,708,848 (GRCm39) I66V probably benign Het
Mtor A G 4: 148,623,284 (GRCm39) K2045E probably benign Het
Mycbp2 C A 14: 103,364,120 (GRCm39) W4393L probably damaging Het
Or1e31 T A 11: 73,690,407 (GRCm39) M59L possibly damaging Het
Or8k32 A T 2: 86,368,512 (GRCm39) V249E probably damaging Het
Pcdha5 A G 18: 37,094,733 (GRCm39) D414G probably damaging Het
Pknox2 T C 9: 36,835,022 (GRCm39) E149G probably damaging Het
Plxdc2 A G 2: 16,665,666 (GRCm39) R240G probably benign Het
Polr3d A T 14: 70,676,927 (GRCm39) F389Y possibly damaging Het
Prex1 T G 2: 166,427,664 (GRCm39) D826A probably damaging Het
Prss50 T A 9: 110,691,454 (GRCm39) S253T probably damaging Het
Ptgfrn T C 3: 100,957,459 (GRCm39) D705G probably damaging Het
Ptpn21 T A 12: 98,655,335 (GRCm39) N544I probably damaging Het
Rbm5 G A 9: 107,622,141 (GRCm39) P611L probably damaging Het
Rev3l A T 10: 39,618,685 (GRCm39) probably benign Het
Rnf139 T C 15: 58,770,595 (GRCm39) Y207H probably benign Het
Scn11a C T 9: 119,613,082 (GRCm39) R836H probably benign Het
Slc30a1 A G 1: 191,639,212 (GRCm39) T32A probably damaging Het
Smad4 T A 18: 73,810,982 (GRCm39) M1L probably benign Het
Sos1 T C 17: 80,759,561 (GRCm39) D190G possibly damaging Het
Sptbn1 C T 11: 30,068,464 (GRCm39) D1677N probably damaging Het
Tmem132e G A 11: 82,335,923 (GRCm39) D1002N probably damaging Het
Usp8 C A 2: 126,584,401 (GRCm39) Q526K probably benign Het
Wt1 A G 2: 105,002,597 (GRCm39) S488G probably benign Het
Zbtb43 A G 2: 33,344,272 (GRCm39) S318P 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
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
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 PCR Primer
(F):5'- ACATGACGTCATCACAGTGGTG -3'
(R):5'- TGCACTTGGGTGACTGACAG -3'

Sequencing Primer
(F):5'- TGACGTCATCGCCGTAGACATC -3'
(R):5'- ATGAACTCATCGGCTCCTGGATG -3'
Posted On 2017-06-26