Incidental Mutation 'R7859:Crkl'
ID 607387
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
MMRRC Submission 045912-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7859 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 17269851-17305298 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 17286960 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 172 (M172K)
Ref Sequence ENSEMBL: ENSMUSP00000006293 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006293] [ENSMUST00000231228] [ENSMUST00000231629]
AlphaFold P47941
Predicted Effect probably damaging
Transcript: ENSMUST00000006293
AA Change: M172K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000006293
Gene: ENSMUSG00000006134
AA Change: M172K

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 probably benign
Transcript: ENSMUST00000231228
Predicted Effect probably benign
Transcript: ENSMUST00000231629
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T C 17: 24,603,500 (GRCm39) L564P probably damaging Het
Arsb T A 13: 93,998,615 (GRCm39) S308T probably benign Het
Atxn10 A G 15: 85,346,526 (GRCm39) D428G probably benign Het
BB014433 GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG 8: 15,092,160 (GRCm39) probably benign Het
Cd300a T C 11: 114,784,165 (GRCm39) Y58H probably benign Het
Cemip2 T A 19: 21,809,539 (GRCm39) I973N possibly damaging Het
Cyfip1 T C 7: 55,549,774 (GRCm39) I647T probably damaging Het
Dlgap1 A G 17: 70,823,683 (GRCm39) T223A probably benign Het
Dmtf1 T C 5: 9,178,044 (GRCm39) S372G probably damaging Het
Dock8 G A 19: 25,160,934 (GRCm39) V1814M probably damaging Het
Dusp22 A C 13: 30,892,737 (GRCm39) K171N probably benign Het
Evi2a T C 11: 79,418,452 (GRCm39) S53G probably benign Het
Ipcef1 T A 10: 6,840,569 (GRCm39) D376V probably damaging Het
Kndc1 A T 7: 139,500,880 (GRCm39) D723V possibly damaging Het
Kti12 A C 4: 108,705,443 (GRCm39) E119A probably benign Het
Kti12 G T 4: 108,705,444 (GRCm39) E119D probably benign Het
Mcur1 G A 13: 43,713,485 (GRCm39) R40* probably null Het
Mgam T A 6: 40,717,113 (GRCm39) N265K possibly damaging Het
Muc6 G A 7: 141,231,687 (GRCm39) T1069I probably damaging Het
Myh2 T C 11: 67,077,526 (GRCm39) L887P probably damaging Het
Myo1d T G 11: 80,575,203 (GRCm39) D171A probably damaging Het
Nat2 T A 8: 67,954,002 (GRCm39) F37L probably damaging Het
Nkx2-2 A G 2: 147,019,730 (GRCm39) C236R unknown Het
Nrl G A 14: 55,759,582 (GRCm39) S115L probably benign Het
Nrsn1 A C 13: 25,446,254 (GRCm39) S41A probably damaging Het
Or5b12 T A 19: 12,897,346 (GRCm39) E109V probably damaging Het
Pax8 T A 2: 24,311,567 (GRCm39) H456L possibly damaging Het
Pkd1 T A 17: 24,790,254 (GRCm39) I979K probably damaging Het
Prex2 A G 1: 11,150,274 (GRCm39) N149D probably damaging Het
Psg28 A T 7: 18,160,149 (GRCm39) V349D probably damaging Het
Ptpro G A 6: 137,369,805 (GRCm39) probably null Het
Sema4d T A 13: 51,876,387 (GRCm39) K94N probably benign Het
Slc22a22 A T 15: 57,114,348 (GRCm39) D326E probably benign Het
Slc25a29 G A 12: 108,792,756 (GRCm39) T274I probably benign Het
Slc43a1 T C 2: 84,687,220 (GRCm39) F374L possibly damaging Het
Syne1 G T 10: 5,107,683 (GRCm39) Q520K possibly damaging Het
Taar4 T C 10: 23,837,032 (GRCm39) V214A probably benign Het
Tex22 T A 12: 113,052,103 (GRCm39) C54S possibly damaging Het
Tpo T A 12: 30,150,573 (GRCm39) I436F probably damaging Het
Usp53 T C 3: 122,743,415 (GRCm39) H507R possibly damaging Het
Usp54 T C 14: 20,638,204 (GRCm39) E255G probably benign Het
Vmn2r109 G T 17: 20,761,436 (GRCm39) F640L probably damaging Het
Vmn2r124 A G 17: 18,282,212 (GRCm39) Y80C probably damaging Het
Vmn2r27 A T 6: 124,201,201 (GRCm39) I252K probably benign Het
Zfp457 A G 13: 67,454,445 (GRCm39) probably benign Het
Other mutations in Crkl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02209:Crkl APN 16 17,287,098 (GRCm39) missense probably benign 0.07
I2288:Crkl UTSW 16 17,301,612 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- CTCTTAAGGTACCCAAGCCC -3'
(R):5'- CATTCTGTGTGGATGGCAAAG -3'

Sequencing Primer
(F):5'- CAGTGGGTTCTGTCTCAGCAC -3'
(R):5'- AAAGGGTTGATCGCTGCC -3'
Posted On 2019-12-20