Incidental Mutation 'R7649:Crkl'
ID 590718
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 045646-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7649 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 17269851-17305298 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 17270366 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 9 (S9P)
Ref Sequence ENSEMBL: ENSMUSP00000006293 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006293] [ENSMUST00000231228] [ENSMUST00000231629]
AlphaFold P47941
Predicted Effect unknown
Transcript: ENSMUST00000006293
AA Change: S9P
SMART Domains Protein: ENSMUSP00000006293
Gene: ENSMUSG00000006134
AA Change: S9P

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 unknown
Transcript: ENSMUST00000231228
AA Change: S9P
Predicted Effect unknown
Transcript: ENSMUST00000231629
AA Change: S9P
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (57/58)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3b T C 5: 26,053,364 (GRCm39) V319A probably benign Het
Adam28 T A 14: 68,872,282 (GRCm39) Y320F probably benign Het
Adam4 T C 12: 81,467,151 (GRCm39) Y490C probably damaging Het
Ampd3 G T 7: 110,377,049 (GRCm39) L13F probably benign Het
Arhgap45 C A 10: 79,866,835 (GRCm39) Q1113K probably benign Het
Arid5b T C 10: 67,954,175 (GRCm39) T370A possibly damaging Het
Arl15 A G 13: 114,104,208 (GRCm39) D115G possibly damaging Het
AW146154 G A 7: 41,130,156 (GRCm39) T320I probably benign Het
Cdh17 C T 4: 11,814,698 (GRCm39) P751L probably damaging Het
Chchd4 C T 6: 91,444,754 (GRCm39) R11Q probably benign Het
Clta T G 4: 44,025,494 (GRCm39) I140R possibly damaging Het
Cnpy1 T C 5: 28,412,282 (GRCm39) T84A probably benign Het
Cpne5 T C 17: 29,445,172 (GRCm39) D44G probably damaging Het
Csmd3 T C 15: 47,532,539 (GRCm39) D1641G Het
Ctnnd2 A G 15: 31,027,630 (GRCm39) T1185A probably benign Het
Dlc1 A T 8: 37,049,894 (GRCm39) L607Q probably damaging Het
Dpy19l2 T C 9: 24,607,459 (GRCm39) M1V probably null Het
Dst T C 1: 34,206,778 (GRCm39) V982A probably benign Het
Fam135b T C 15: 71,334,429 (GRCm39) I922V probably benign Het
Fbxl13 T C 5: 21,819,664 (GRCm39) E245G probably benign Het
Fcgbp T C 7: 27,790,928 (GRCm39) S730P possibly damaging Het
Ggt1 T C 10: 75,421,290 (GRCm39) V468A possibly damaging Het
Gja5 A T 3: 96,958,957 (GRCm39) H338L probably benign Het
Herpud2 T C 9: 25,021,902 (GRCm39) E248G possibly damaging Het
Il17rd C A 14: 26,761,167 (GRCm39) A36E probably benign Het
Irf2bpl T C 12: 86,929,572 (GRCm39) Y367C possibly damaging Het
Lama1 T A 17: 68,044,549 (GRCm39) D149E Het
Lipf A T 19: 33,943,098 (GRCm39) E135D possibly damaging Het
Manea T A 4: 26,328,234 (GRCm39) D269V probably damaging Het
Megf6 A G 4: 154,349,542 (GRCm39) Y910C probably damaging Het
Mical3 G A 6: 120,911,909 (GRCm39) R1928W probably damaging Het
Or13c3 G A 4: 52,855,692 (GRCm39) Q274* probably null Het
Or5b108 T A 19: 13,168,136 (GRCm39) I35N possibly damaging Het
Plch1 G T 3: 63,605,590 (GRCm39) S1438* probably null Het
Por T C 5: 135,763,359 (GRCm39) F595L probably damaging Het
Prkcg G A 7: 3,378,480 (GRCm39) R634H probably benign Het
Prr14l C T 5: 32,985,589 (GRCm39) G1302D probably benign Het
Rcan3 A T 4: 135,139,799 (GRCm39) S135T probably benign Het
Rnf223 A G 4: 156,216,660 (GRCm39) M12V probably benign Het
Rps6kb2 A G 19: 4,207,020 (GRCm39) S483P unknown Het
Sacs T A 14: 61,440,677 (GRCm39) F908I possibly damaging Het
Slc4a9 A G 18: 36,661,430 (GRCm39) Q64R probably benign Het
Slco4c1 T A 1: 96,756,667 (GRCm39) I552F probably benign Het
Sppl2b C T 10: 80,703,253 (GRCm39) P505L probably benign Het
Sptbn4 A G 7: 27,061,002 (GRCm39) S2434P possibly damaging Het
Ssh1 A T 5: 114,088,612 (GRCm39) M395K probably benign Het
Stk10 A T 11: 32,527,764 (GRCm39) I171F Het
Tmx3 C T 18: 90,558,154 (GRCm39) A402V probably damaging Het
Tnfrsf13c T C 15: 82,108,341 (GRCm39) D58G possibly damaging Het
Tnk1 T C 11: 69,744,403 (GRCm39) probably null Het
Trav14n-3 A T 14: 53,607,951 (GRCm39) N94Y probably damaging Het
Trav5-4 A T 14: 53,941,902 (GRCm39) K92* probably null Het
Tsga10 C T 1: 37,874,229 (GRCm39) R190H unknown Het
Zfhx3 T C 8: 109,678,276 (GRCm39) F3109L probably benign Het
Zfhx4 A G 3: 5,307,170 (GRCm39) Y132C probably damaging Het
Zfp521 T C 18: 13,977,413 (GRCm39) E1000G probably damaging 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
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'- GGTTCCAGGACAGAAGTCAC -3'
(R):5'- ATCTTAAAGCGGCGGTTGG -3'

Sequencing Primer
(F):5'- GACAGAAGTCACTGGAGCCTC -3'
(R):5'- GGCAGGGAGTTGATGATGTAG -3'
Posted On 2019-10-24