Incidental Mutation 'R0732:Crlf2'
ID 67633
Institutional Source Beutler Lab
Gene Symbol Crlf2
Ensembl Gene ENSMUSG00000033467
Gene Name cytokine receptor-like factor 2
Synonyms Tslpr, Ly114, Tpte2
MMRRC Submission 038913-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.328) question?
Stock # R0732 (G1)
Quality Score 225
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: 98.8%
  • 10x: 97.4%
  • 20x: 94.7%
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,523,411 (GRCm39) Y1175C probably damaging Het
Acsm3 T C 7: 119,373,057 (GRCm39) S187P probably benign Het
Adam28 T C 14: 68,874,796 (GRCm39) I294V probably benign Het
Adgrv1 T C 13: 81,651,123 (GRCm39) I3057M possibly damaging Het
Aff4 T C 11: 53,266,423 (GRCm39) V304A probably benign Het
Akr1b10 T C 6: 34,367,044 (GRCm39) Y108H probably benign Het
Ankib1 T C 5: 3,763,163 (GRCm39) N522S possibly damaging Het
Ano1 T A 7: 144,173,225 (GRCm39) probably null Het
Antxr2 G T 5: 98,108,567 (GRCm39) probably null Het
Arc G A 15: 74,543,044 (GRCm39) T393I probably damaging Het
Arhgef33 A G 17: 80,688,783 (GRCm39) D5G possibly damaging Het
Atf2 A T 2: 73,675,844 (GRCm39) M169K possibly damaging Het
BC005624 T A 2: 30,863,949 (GRCm39) T215S possibly damaging Het
Bmp8b G A 4: 122,999,199 (GRCm39) G19D unknown Het
Cacna1d T C 14: 29,764,877 (GRCm39) N1987S probably damaging Het
Camta1 T A 4: 151,670,941 (GRCm39) probably null Het
Catsperg2 C T 7: 29,400,121 (GRCm39) G316D probably damaging Het
Cbs G T 17: 31,844,003 (GRCm39) N209K probably benign Het
Ccdc122 T A 14: 77,329,199 (GRCm39) M84K probably damaging Het
Cd5 C T 19: 10,700,649 (GRCm39) C285Y probably damaging Het
Chpf2 T C 5: 24,795,419 (GRCm39) M1T probably null Het
Coch T A 12: 51,642,155 (GRCm39) D42E probably damaging Het
Crip2 C T 12: 113,104,178 (GRCm39) probably benign Het
Cxcl16 G T 11: 70,346,234 (GRCm39) P233H probably damaging Het
Cyfip1 T C 7: 55,536,529 (GRCm39) I319T probably damaging Het
Ddhd2 T C 8: 26,231,348 (GRCm39) Q364R probably damaging Het
Ephx2 A G 14: 66,324,412 (GRCm39) probably null Het
Exoc6b C A 6: 84,832,504 (GRCm39) V397L probably damaging Het
Fam83b T A 9: 76,400,210 (GRCm39) K298* probably null Het
Fbxo8 T A 8: 57,044,564 (GRCm39) I289N probably damaging Het
Fkbp9 T A 6: 56,855,089 (GRCm39) M536K probably benign Het
Flot1 C T 17: 36,136,416 (GRCm39) R190W possibly damaging Het
Gbp2b T A 3: 142,312,739 (GRCm39) V374E probably benign Het
Gna15 T A 10: 81,348,390 (GRCm39) S114C probably damaging Het
Gstt4 T A 10: 75,653,155 (GRCm39) T136S probably benign Het
Hcn3 C T 3: 89,056,093 (GRCm39) V524M probably damaging Het
Kctd16 A T 18: 40,391,616 (GRCm39) D68V probably damaging Het
Kics2 T C 10: 121,586,852 (GRCm39) V253A possibly damaging Het
Krt90 G T 15: 101,468,860 (GRCm39) F227L possibly damaging Het
Lrrc37 T C 11: 103,510,664 (GRCm39) T435A unknown Het
Maip1 A G 1: 57,450,994 (GRCm39) Y212C probably damaging Het
Mamdc2 C T 19: 23,356,233 (GRCm39) D72N probably damaging Het
Marveld3 A T 8: 110,675,115 (GRCm39) Y234N probably damaging Het
Mas1 A G 17: 13,060,634 (GRCm39) I263T probably benign Het
Matk T A 10: 81,094,140 (GRCm39) probably null Het
Mrgpre T A 7: 143,335,303 (GRCm39) I67F possibly damaging Het
Mthfd1 T A 12: 76,340,948 (GRCm39) I449N probably damaging Het
Nacc1 C T 8: 85,402,830 (GRCm39) R321Q probably damaging Het
Neb T C 2: 52,148,693 (GRCm39) D2618G probably damaging Het
Neb T C 2: 52,181,280 (GRCm39) Y1109C probably damaging Het
Nell1 T G 7: 50,506,135 (GRCm39) W781G probably damaging Het
Or4g16 T A 2: 111,137,325 (GRCm39) Y258* probably null Het
Or4x6 A G 2: 89,949,666 (GRCm39) V92A probably benign Het
Or52d1 T C 7: 103,755,501 (GRCm39) L5P probably damaging Het
Or55b4 T C 7: 102,133,650 (GRCm39) I226V probably benign Het
Or5p72 C A 7: 108,021,784 (GRCm39) A2D probably benign Het
Or6k4 A T 1: 173,964,981 (GRCm39) I224F possibly damaging Het
Or8s8 T C 15: 98,354,959 (GRCm39) L256S possibly damaging Het
Or8u10 A C 2: 85,915,928 (GRCm39) S64R probably benign Het
Pcdh7 C A 5: 57,878,657 (GRCm39) D737E probably damaging Het
Pdss1 T G 2: 22,791,324 (GRCm39) M55R probably benign Het
Pex6 C T 17: 47,035,626 (GRCm39) R889W probably damaging Het
Pigl T A 11: 62,349,307 (GRCm39) C8S possibly damaging Het
Plekha7 A T 7: 115,744,472 (GRCm39) M585K probably damaging Het
Ppp1r1a C T 15: 103,441,514 (GRCm39) M66I possibly damaging Het
Ptcd3 A T 6: 71,858,155 (GRCm39) probably benign Het
Rhov A T 2: 119,101,495 (GRCm39) V37E probably damaging Het
Rnf213 A T 11: 119,331,894 (GRCm39) M2368L probably damaging Het
Skida1 T C 2: 18,050,968 (GRCm39) probably benign Het
Slc25a28 T C 19: 43,655,392 (GRCm39) D161G probably benign Het
Smc6 T C 12: 11,340,818 (GRCm39) V490A probably damaging Het
Sohlh2 T A 3: 55,097,794 (GRCm39) probably null Het
Stk31 A G 6: 49,394,429 (GRCm39) T264A probably benign Het
Syngap1 T A 17: 27,173,962 (GRCm39) S190R possibly damaging Het
Tacr1 T A 6: 82,529,882 (GRCm39) V200E probably damaging Het
Tbrg4 C T 11: 6,570,812 (GRCm39) R220H probably benign Het
Tcf20 A G 15: 82,736,504 (GRCm39) L1649P probably benign Het
Tcirg1 A T 19: 3,947,866 (GRCm39) L523Q possibly damaging Het
Tinag T A 9: 76,908,936 (GRCm39) K335M possibly damaging Het
Tkt T G 14: 30,293,097 (GRCm39) probably null Het
Tnpo1 C T 13: 99,000,320 (GRCm39) R349H probably damaging Het
Trim26 T A 17: 37,163,510 (GRCm39) S230R possibly damaging Het
Trim8 T A 19: 46,503,178 (GRCm39) probably null Het
Trp53bp1 T C 2: 121,078,745 (GRCm39) R326G probably null Het
Ugt2a2 A T 5: 87,608,498 (GRCm39) I613N probably damaging Het
Vmn1r32 T C 6: 66,530,690 (GRCm39) I29V probably benign Het
Wnt5b C T 6: 119,423,543 (GRCm39) W27* probably null 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
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 PCR Primer
(F):5'- TGTGACATCATCAGAGCACTGCC -3'
(R):5'- GGTCTGTGACTTCCTGTCGGAATC -3'

Sequencing Primer
(F):5'- ATCAGGCAACTTCCTGCG -3'
(R):5'- GGGACGGTACTTCCTTTCAGAC -3'
Posted On 2013-09-03