Incidental Mutation 'I2288:Crkl'
ID 7886
Institutional Source Beutler Lab
Gene Symbol Crkl
Ensembl Gene ENSMUSG00000006134
Gene Name v-crk avian sarcoma virus CT10 oncogene homolog-like
Synonyms 1110025F07Rik, snoop, Crkol
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # I2288 (G3) of strain 633
Quality Score
Status Validated
Chromosome 16
Chromosomal Location 17269851-17305298 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 17301612 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 289 (T289A)
Ref Sequence ENSEMBL: ENSMUSP00000006293 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006293] [ENSMUST00000231629]
AlphaFold P47941
Predicted Effect probably damaging
Transcript: ENSMUST00000006293
AA Change: T289A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006293
Gene: ENSMUSG00000006134
AA Change: T289A

DomainStartEndE-ValueType
SH2 12 94 1.49e-26 SMART
SH3 126 182 3.4e-19 SMART
SH3 238 295 2.83e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158368
Predicted Effect probably benign
Transcript: ENSMUST00000231629
Meta Mutation Damage Score 0.5412 question?
Coding Region Coverage
  • 1x: 89.9%
  • 3x: 84.8%
Validation Efficiency 71% (138/195)
MGI Phenotype FUNCTION: This gene is part of a family of adapter proteins that mediate formation of signal transduction complexes in response to extracellular stimuli, such as growth and differentiation factors. Protein-protein interactions occur through the SH2 domain, which binds phosphorylated tyrosine residues, and the SH3 domain, which binds proline-rich peptide motifs. These interactions promote recruitment and activation of effector proteins to regulate cell migration, adhesion, and proliferation. In certain mouse genetic backgrounds this protein is essential for embryonic development. It is important for neural crest cell differentiation and survival and is proposed to play an important role in transducing the oncogenic signal of Bcr/Abl. Deletion of this gene in mouse mimics the phenotype of DiGeorge/velocardiofacial syndrome in human. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mice homozygous for a null allele exhibit fetal lethality with abnormal heart, craniofacial, and brain morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 A T 8: 25,174,677 (GRCm39) I696N probably damaging Het
Adgra1 T C 7: 139,432,495 (GRCm39) I111T probably damaging Het
Adgrv1 A G 13: 81,585,643 (GRCm39) L4607P probably damaging Het
Alppl2 A T 1: 87,015,898 (GRCm39) M284K possibly damaging Het
Arfgef1 T C 1: 10,243,478 (GRCm39) K1024E probably damaging Het
Arid2 T C 15: 96,267,392 (GRCm39) V624A possibly damaging Het
Babam1 G A 8: 71,850,467 (GRCm39) R32Q probably damaging Het
Camk1g C T 1: 193,033,414 (GRCm39) probably benign Homo
Cfap44 C A 16: 44,269,501 (GRCm39) Y1168* probably null Het
Clasp1 A G 1: 118,492,959 (GRCm39) H1168R probably benign Het
Dlec1 A G 9: 118,972,669 (GRCm39) D1464G probably damaging Het
Dmxl2 A T 9: 54,309,077 (GRCm39) H1891Q probably damaging Het
Dnah10 G A 5: 124,807,164 (GRCm39) A150T probably benign Het
Dnah8 A G 17: 30,882,428 (GRCm39) T667A probably benign Het
Fpr-rs3 A T 17: 20,844,757 (GRCm39) L128Q probably damaging Het
Fxn C T 19: 24,239,431 (GRCm39) probably benign Homo
Golgb1 A G 16: 36,718,904 (GRCm39) H270R probably benign Het
Gramd1b T C 9: 40,218,101 (GRCm39) I572V probably damaging Het
Iqch A T 9: 63,408,172 (GRCm39) I664K probably benign Het
Kcnn2 T A 18: 45,808,340 (GRCm39) probably benign Het
Lrp1b A T 2: 41,012,944 (GRCm39) I2001K probably damaging Het
Lrrc40 T A 3: 157,758,426 (GRCm39) I277K probably damaging Het
Myo1e A G 9: 70,249,379 (GRCm39) E493G possibly damaging Homo
Nrcam C A 12: 44,611,098 (GRCm39) H567Q probably benign Homo
Or52d3 T C 7: 104,229,593 (GRCm39) C247R probably damaging Het
Or5bw2 A T 7: 6,573,818 (GRCm39) Y276F probably damaging Homo
Or5w19 T A 2: 87,698,479 (GRCm39) I48N probably damaging Het
Parvg C A 15: 84,212,981 (GRCm39) probably benign Het
Ripk4 A G 16: 97,549,345 (GRCm39) V237A probably benign Het
Spam1 A G 6: 24,796,477 (GRCm39) I143V probably benign Het
Synj2 A G 17: 6,072,542 (GRCm39) probably benign Het
Taar4 A G 10: 23,836,818 (GRCm39) T143A probably benign Het
Ttc12 T A 9: 49,381,558 (GRCm39) M138L possibly damaging Het
Ttll9 A G 2: 152,814,259 (GRCm39) probably benign Het
Usp34 T A 11: 23,382,473 (GRCm39) probably benign Homo
Utrn A G 10: 12,297,384 (GRCm39) Y675H probably damaging Het
Other mutations in Crkl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02209:Crkl APN 16 17,287,098 (GRCm39) missense probably benign 0.07
R1545:Crkl UTSW 16 17,301,556 (GRCm39) missense probably damaging 1.00
R6030:Crkl UTSW 16 17,270,604 (GRCm39) missense probably damaging 1.00
R6030:Crkl UTSW 16 17,270,604 (GRCm39) missense probably damaging 1.00
R6788:Crkl UTSW 16 17,301,645 (GRCm39) missense probably damaging 0.98
R7649:Crkl UTSW 16 17,270,366 (GRCm39) missense unknown
R7859:Crkl UTSW 16 17,286,960 (GRCm39) missense probably damaging 1.00
R8969:Crkl UTSW 16 17,286,918 (GRCm39) missense probably damaging 1.00
R9234:Crkl UTSW 16 17,286,822 (GRCm39) missense probably damaging 1.00
Posted On 2012-11-13