Incidental Mutation 'IGL02223:Crk'
ID 285225
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Crk
Ensembl Gene ENSMUSG00000017776
Gene Name v-crk avian sarcoma virus CT10 oncogene homolog
Synonyms Crk-III, Crk-II, Crk-I, Crko, proto-oncogene c-crk
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02223
Quality Score
Status
Chromosome 11
Chromosomal Location 75570085-75597734 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75594205 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 264 (V264A)
Ref Sequence ENSEMBL: ENSMUSP00000017920 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017920] [ENSMUST00000093115] [ENSMUST00000108425] [ENSMUST00000108426]
AlphaFold Q64010
PDB Structure CRK SH3 DOMAIN COMPLEXED WITH PEPTOID INHIBITOR [X-RAY DIFFRACTION]
STRUCTURAL BASIS FOR THE SPECIFIC INTERACTION OF LYSINE-CONTAINING PROLINE-RICH PEPTIDES WITH THE N-TERMINAL SH3 DOMAIN OF C-CRK [X-RAY DIFFRACTION]
STRUCTURAL BASIS FOR THE SPECIFIC INTERACTION OF LYSINE-CONTAINING PROLINE-RICH PEPTIDES WITH THE N-TERMINAL SH3 DOMAIN OF C-CRK [X-RAY DIFFRACTION]
Ternary complex of an Crk SH2 domain, Crk-derived phophopeptide, and Abl SH3 domain by NMR spectroscopy [SOLUTION NMR]
Solution structure of N-terminal SH3 domain from oncogene protein c-Crk [SOLUTION NMR]
Solution structure of a circular form of the truncated N-terminal SH3 domain from oncogene protein c-Crk. [SOLUTION NMR]
Solution structure of a circular form of the N-terminal SH3 domain (A134C, E135G, R191G mutant) from oncogene protein c-Crk. [SOLUTION NMR]
Solution structure of a circular form of the N-terminal SH3 domain (E132C, E133G, R191G mutant) from oncogene protein c-Crk [SOLUTION NMR]
Solution structure of the C-terminal SH3 domain of c-CrkII [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000017920
AA Change: V264A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000017920
Gene: ENSMUSG00000017776
AA Change: V264A

DomainStartEndE-ValueType
SH2 11 110 4.98e-28 SMART
SH3 135 191 1.82e-19 SMART
SH3 238 295 6.86e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000093115
SMART Domains Protein: ENSMUSP00000090803
Gene: ENSMUSG00000017776

DomainStartEndE-ValueType
SH2 11 110 4.98e-28 SMART
SH3 135 191 1.82e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108425
SMART Domains Protein: ENSMUSP00000104063
Gene: ENSMUSG00000017776

DomainStartEndE-ValueType
SH2 11 110 4.98e-28 SMART
SH3 135 191 1.82e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108426
SMART Domains Protein: ENSMUSP00000104064
Gene: ENSMUSG00000017776

DomainStartEndE-ValueType
SH2 11 72 7.29e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000147718
SMART Domains Protein: ENSMUSP00000116527
Gene: ENSMUSG00000017776

DomainStartEndE-ValueType
SH2 1 71 1.31e0 SMART
SH3 96 152 1.82e-19 SMART
Coding Region Coverage
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 mouse this protein is essential for embryonic development. Alternatively spliced transcripts encoding different isoforms with distinct biological activity have been described. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mice homozygous for an isoform specific knockout do not exhibit any obvious abnormalities. Mice homozygous of a null allele of both isoforms exhibit fetal and perinatal lethality associated with abnormal cardiovascular morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 C T 17: 24,506,909 (GRCm39) W1148* probably null Het
Adam17 A G 12: 21,411,706 (GRCm39) S62P possibly damaging Het
Akap8 T C 17: 32,535,621 (GRCm39) Y131C probably damaging Het
Ccdc169 A G 3: 55,049,721 (GRCm39) N48S probably benign Het
Ccdc80 A G 16: 44,915,966 (GRCm39) T241A probably damaging Het
Cct7 G T 6: 85,439,023 (GRCm39) M112I probably benign Het
Cftr G A 6: 18,221,481 (GRCm39) A198T probably damaging Het
Dhx34 T C 7: 15,932,584 (GRCm39) T1071A probably benign Het
Dlst A G 12: 85,177,692 (GRCm39) I362V probably benign Het
Fat2 T C 11: 55,163,955 (GRCm39) E3100G probably benign Het
Fbxo11 A G 17: 88,316,714 (GRCm39) V323A probably benign Het
Foxe3 C A 4: 114,782,906 (GRCm39) R102L probably damaging Het
Gale T C 4: 135,693,817 (GRCm39) F162S probably damaging Het
Gipc2 G A 3: 151,833,687 (GRCm39) P198L probably damaging Het
Gm5258 A G 1: 86,251,118 (GRCm39) noncoding transcript Het
Gpatch11 A G 17: 79,152,608 (GRCm39) T259A probably benign Het
H2-M10.3 T C 17: 36,678,972 (GRCm39) N32S possibly damaging Het
Hdlbp T C 1: 93,340,171 (GRCm39) I999V probably damaging Het
Ibtk A G 9: 85,592,419 (GRCm39) probably benign Het
Ift46 A G 9: 44,697,609 (GRCm39) S165G probably damaging Het
Igsf1 A G X: 48,873,897 (GRCm39) S389P probably damaging Het
Lrrd1 A C 5: 3,900,211 (GRCm39) N172T probably benign Het
Mamdc2 G A 19: 23,336,507 (GRCm39) probably benign Het
Matn2 A G 15: 34,423,864 (GRCm39) N574S probably benign Het
Med1 T C 11: 98,048,702 (GRCm39) D683G probably damaging Het
Mon1a A G 9: 107,778,484 (GRCm39) E236G probably damaging Het
Moxd2 T A 6: 40,861,967 (GRCm39) I202F probably damaging Het
Nif3l1 T A 1: 58,487,202 (GRCm39) Y129* probably null Het
Nlrp5 T C 7: 23,129,447 (GRCm39) probably benign Het
Odad3 G A 9: 21,904,908 (GRCm39) R293C probably damaging Het
Or5k14 C T 16: 58,693,057 (GRCm39) G152E probably damaging Het
Pcx T C 19: 4,652,006 (GRCm39) Y84H probably damaging Het
Pom121l2 T C 13: 22,166,265 (GRCm39) S179P probably benign Het
Rexo4 C A 2: 26,845,511 (GRCm39) C369F probably damaging Het
Rigi T C 4: 40,209,993 (GRCm39) N692D possibly damaging Het
Scmh1 C A 4: 120,372,416 (GRCm39) H406Q probably benign Het
Slc12a8 A G 16: 33,445,060 (GRCm39) D372G probably damaging Het
Snip1 T C 4: 124,966,545 (GRCm39) F325S possibly damaging Het
Spr-ps1 C T 6: 85,132,181 (GRCm39) noncoding transcript Het
Stk36 A G 1: 74,662,496 (GRCm39) Y538C possibly damaging Het
Svil A G 18: 5,105,879 (GRCm39) probably benign Het
Syne2 A G 12: 76,155,079 (GRCm39) T6787A probably benign Het
Tbcel T G 9: 42,363,014 (GRCm39) M10L probably benign Het
Tesk2 T A 4: 116,599,022 (GRCm39) Y43* probably null Het
Tjp1 C T 7: 64,972,349 (GRCm39) R605Q probably damaging Het
Tmem65 A G 15: 58,662,000 (GRCm39) probably benign Het
Tnnt2 A G 1: 135,769,753 (GRCm39) probably benign Het
Trmt44 T C 5: 35,731,989 (GRCm39) E134G probably benign Het
Trpv2 T C 11: 62,472,081 (GRCm39) L91P probably benign Het
Ttn G A 2: 76,807,463 (GRCm39) T90I probably damaging Het
Yy1 A G 12: 108,759,466 (GRCm39) E43G unknown Het
Other mutations in Crk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02266:Crk APN 11 75,570,415 (GRCm39) missense probably damaging 1.00
R0282:Crk UTSW 11 75,594,195 (GRCm39) missense probably damaging 1.00
R1956:Crk UTSW 11 75,583,496 (GRCm39) missense possibly damaging 0.83
R2864:Crk UTSW 11 75,594,211 (GRCm39) missense probably damaging 1.00
R5195:Crk UTSW 11 75,570,289 (GRCm39) missense probably damaging 1.00
R8556:Crk UTSW 11 75,583,347 (GRCm39) missense probably benign 0.02
Posted On 2015-04-16