Incidental Mutation 'R6030:Crkl'
ID 486233
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 044202-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6030 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 17269851-17305298 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 17270604 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 88 (Y88C)
Ref Sequence ENSEMBL: ENSMUSP00000156063 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006293] [ENSMUST00000231228] [ENSMUST00000231629]
AlphaFold P47941
Predicted Effect probably damaging
Transcript: ENSMUST00000006293
AA Change: Y88C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006293
Gene: ENSMUSG00000006134
AA Change: Y88C

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 damaging
Transcript: ENSMUST00000231228
AA Change: Y88C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000231629
AA Change: Y88C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.1%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,133,021 (GRCm39) N1317D probably benign Het
Abhd8 T A 8: 71,910,794 (GRCm39) Y338F possibly damaging Het
Actg2 G T 6: 83,493,346 (GRCm39) N297K probably damaging Het
Agap1 A G 1: 89,558,156 (GRCm39) D148G probably damaging Het
Alox12 T C 11: 70,145,417 (GRCm39) D52G possibly damaging Het
Ano5 T A 7: 51,224,573 (GRCm39) S496T probably damaging Het
Arl6ip4 T C 5: 124,255,968 (GRCm39) probably null Het
Atp4a G C 7: 30,421,941 (GRCm39) E826Q probably damaging Het
Bbs7 T C 3: 36,657,060 (GRCm39) D256G probably damaging Het
Bckdha T A 7: 25,330,866 (GRCm39) D50V probably damaging Het
Cast A G 13: 74,844,056 (GRCm39) S693P possibly damaging Het
Cfap251 C T 5: 123,412,267 (GRCm39) T532M probably damaging Het
Col6a1 T C 10: 76,545,700 (GRCm39) Y924C unknown Het
Cse1l T C 2: 166,761,541 (GRCm39) F32L probably benign Het
Dmxl2 C T 9: 54,300,957 (GRCm39) V2385I probably benign Het
Dnah1 T A 14: 30,989,984 (GRCm39) I3219F probably damaging Het
Dnah17 C T 11: 117,916,375 (GRCm39) R4266H probably benign Het
Efcab5 A G 11: 77,012,088 (GRCm39) L722P probably damaging Het
Emilin3 C A 2: 160,751,105 (GRCm39) V215L probably benign Het
Entr1 T C 2: 26,276,983 (GRCm39) D249G possibly damaging Het
Esr1 A T 10: 4,696,622 (GRCm39) N157I possibly damaging Het
Esrrg A G 1: 187,930,904 (GRCm39) M309V probably benign Het
Fam120b G A 17: 15,622,172 (GRCm39) R50Q probably damaging Het
Fat2 G T 11: 55,201,129 (GRCm39) Y648* probably null Het
Gbp2b T A 3: 142,309,414 (GRCm39) I175N probably benign Het
Gm1043 T A 5: 37,311,952 (GRCm39) probably benign Het
Gm21060 A G 19: 61,285,411 (GRCm39) C33R possibly damaging Het
Gpx6 C T 13: 21,496,510 (GRCm39) S28L probably benign Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Ifi44 T C 3: 151,455,195 (GRCm39) Q10R probably benign Het
Impa2 T C 18: 67,451,498 (GRCm39) V264A probably benign Het
Khdc1a A T 1: 21,421,108 (GRCm39) M98L probably benign Het
Lrrc45 T A 11: 120,611,474 (GRCm39) L616* probably null Het
Mios A T 6: 8,215,704 (GRCm39) H300L probably benign Het
Mllt6 A T 11: 97,568,051 (GRCm39) T827S probably damaging Het
Mrc1 C A 2: 14,321,712 (GRCm39) D1068E probably benign Het
Ndst3 T C 3: 123,346,168 (GRCm39) Y702C probably damaging Het
Nek11 T A 9: 105,082,087 (GRCm39) probably null Het
Nek4 T C 14: 30,678,890 (GRCm39) F138S probably damaging Het
Nfatc4 T A 14: 56,069,897 (GRCm39) Y688* probably null Het
Nlrx1 C T 9: 44,175,057 (GRCm39) V240M probably damaging Het
Npy6r A T 18: 44,409,149 (GRCm39) Y190F probably benign Het
Or10ab5 A C 7: 108,245,433 (GRCm39) S117A possibly damaging Het
Or10d4b T C 9: 39,534,637 (GRCm39) F71L probably damaging Het
Or1j10 T G 2: 36,267,556 (GRCm39) L256R probably damaging Het
Or52b4i C A 7: 102,191,817 (GRCm39) R225S probably benign Het
Or5p52 A G 7: 107,502,620 (GRCm39) E232G probably benign Het
Or6c68 A T 10: 129,158,238 (GRCm39) T249S probably benign Het
Osbpl7 A C 11: 96,943,087 (GRCm39) H113P probably benign Het
Pam16l C T 10: 43,400,252 (GRCm39) A30V probably benign Het
Pck1 A G 2: 172,996,650 (GRCm39) E188G probably benign Het
Pimreg A G 11: 71,936,576 (GRCm39) D213G probably benign Het
Pkd1l2 A G 8: 117,769,976 (GRCm39) I1160T probably damaging Het
Ppargc1b G A 18: 61,441,005 (GRCm39) Q622* probably null Het
Ppfia2 T A 10: 106,742,338 (GRCm39) C1044S probably damaging Het
Ppp4r3a A G 12: 101,024,659 (GRCm39) V280A probably damaging Het
Ptprf T C 4: 118,068,245 (GRCm39) N1764D probably benign Het
Pygm C T 19: 6,438,842 (GRCm39) R311C possibly damaging Het
Rab7b A G 1: 131,626,299 (GRCm39) K109R probably damaging Het
Rsf1 GGCG GGCGACGGCTGCG 7: 97,229,113 (GRCm39) probably benign Homo
Setbp1 T G 18: 78,900,926 (GRCm39) I914L probably benign Het
Shprh A C 10: 11,027,735 (GRCm39) Q114P probably benign Het
Slc5a9 T C 4: 111,742,725 (GRCm39) I456V possibly damaging Het
Slc8b1 T C 5: 120,657,985 (GRCm39) probably null Het
Spin1 T A 13: 51,293,552 (GRCm39) Y87* probably null Het
Spring1 T C 5: 118,393,798 (GRCm39) W59R probably damaging Het
Srebf2 T C 15: 82,061,477 (GRCm39) probably null Het
Sufu T C 19: 46,463,978 (GRCm39) Y397H probably damaging Het
Tgfb3 A C 12: 86,110,624 (GRCm39) V242G probably benign Het
Tgm3 A T 2: 129,883,920 (GRCm39) Y526F probably damaging Het
Tmem209 A G 6: 30,482,967 (GRCm39) L508P probably damaging Het
Tmem67 T C 4: 12,063,799 (GRCm39) D454G probably benign Het
Ttn T C 2: 76,646,943 (GRCm39) E3280G possibly damaging Het
Tusc3 G C 8: 39,538,560 (GRCm39) G200R probably damaging Het
Umps A G 16: 33,782,508 (GRCm39) V138A probably benign Het
Ypel1 A G 16: 16,902,377 (GRCm39) probably null Het
Zdhhc19 T A 16: 32,317,860 (GRCm39) L63Q probably null 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
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
Predicted Primers PCR Primer
(F):5'- GATTCTTCAGACCGCTCTGC -3'
(R):5'- GCCTTATAATCCGAATGTCTTCTG -3'

Sequencing Primer
(F):5'- TACATGGGGCCAGTGACTC -3'
(R):5'- CCGAATGTCTTCTGATTTAGAATGAG -3'
Posted On 2017-08-16