Incidental Mutation 'IGL02266:Crk'
ID 286885
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 # IGL02266
Quality Score
Status
Chromosome 11
Chromosomal Location 75570085-75597734 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 75570415 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 16 (R16S)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017920] [ENSMUST00000093115] [ENSMUST00000108425] [ENSMUST00000108426]
AlphaFold Q64010
Predicted Effect possibly damaging
Transcript: ENSMUST00000017920
AA Change: R56S

PolyPhen 2 Score 0.490 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000017920
Gene: ENSMUSG00000017776
AA Change: R56S

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 possibly damaging
Transcript: ENSMUST00000093115
AA Change: R56S

PolyPhen 2 Score 0.506 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000090803
Gene: ENSMUSG00000017776
AA Change: R56S

DomainStartEndE-ValueType
SH2 11 110 4.98e-28 SMART
SH3 135 191 1.82e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108425
AA Change: R56S

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000104063
Gene: ENSMUSG00000017776
AA Change: R56S

DomainStartEndE-ValueType
SH2 11 110 4.98e-28 SMART
SH3 135 191 1.82e-19 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000108426
AA Change: R56S

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000104064
Gene: ENSMUSG00000017776
AA Change: R56S

DomainStartEndE-ValueType
SH2 11 72 7.29e-12 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000147718
AA Change: R16S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116527
Gene: ENSMUSG00000017776
AA Change: R16S

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G A 1: 71,307,360 (GRCm39) Q1974* probably null Het
Actl11 G T 9: 107,808,382 (GRCm39) V902L possibly damaging Het
Adam11 T C 11: 102,663,493 (GRCm39) V274A probably damaging Het
Akr1b8 A G 6: 34,331,208 (GRCm39) I15V probably benign Het
Chrm3 T A 13: 9,927,314 (GRCm39) Q574L probably damaging Het
Ciao3 T A 17: 25,999,300 (GRCm39) I238N possibly damaging Het
Ep400 T C 5: 110,843,163 (GRCm39) probably benign Het
Eya1 T C 1: 14,254,725 (GRCm39) N369S possibly damaging Het
Fam220a T C 5: 143,549,326 (GRCm39) V246A possibly damaging Het
Fastkd5 A T 2: 130,457,481 (GRCm39) F370I probably damaging Het
Fhdc1 G A 3: 84,352,042 (GRCm39) A1061V possibly damaging Het
Gpr75 A C 11: 30,841,977 (GRCm39) Q294P probably benign Het
Hspg2 T C 4: 137,237,888 (GRCm39) F204L probably damaging Het
Lrrc8c A C 5: 105,756,114 (GRCm39) I630L probably benign Het
Nlrc4 T C 17: 74,753,162 (GRCm39) D407G possibly damaging Het
Or4f61 G A 2: 111,922,588 (GRCm39) L153F probably benign Het
Or8k22 T A 2: 86,163,323 (GRCm39) I126F probably damaging Het
Pank1 A C 19: 34,791,086 (GRCm39) probably benign Het
Pde3b A G 7: 114,126,201 (GRCm39) T812A probably damaging Het
Phtf2 T G 5: 21,010,797 (GRCm39) K63Q probably damaging Het
Pkhd1l1 A T 15: 44,437,010 (GRCm39) H3456L probably damaging Het
Plcd1 A G 9: 118,903,855 (GRCm39) probably benign Het
Ppip5k2 C T 1: 97,661,697 (GRCm39) V734I possibly damaging Het
Ppp2r2d A G 7: 138,470,166 (GRCm39) N38S probably damaging Het
Rnpepl1 T A 1: 92,844,611 (GRCm39) W368R probably damaging Het
Sidt1 T C 16: 44,075,348 (GRCm39) D670G possibly damaging Het
Slc12a2 T A 18: 58,045,092 (GRCm39) probably benign Het
Tekt5 A T 16: 10,196,906 (GRCm39) I315N probably benign Het
Trappc11 A C 8: 47,958,766 (GRCm39) C42G probably damaging Het
Trerf1 C T 17: 47,626,331 (GRCm39) noncoding transcript Het
Ubqlnl C A 7: 103,798,754 (GRCm39) E248* probably null Het
Ulk4 G T 9: 120,910,766 (GRCm39) T1086K probably benign Het
Unc45a A T 7: 79,978,234 (GRCm39) D680E probably damaging Het
Vmn2r107 T C 17: 20,577,039 (GRCm39) Y346H probably damaging Het
Vmn2r73 A G 7: 85,525,007 (GRCm39) I47T possibly damaging Het
Zbtb9 T C 17: 27,193,129 (GRCm39) V178A probably benign Het
Zc3hav1 A T 6: 38,309,103 (GRCm39) M573K probably benign Het
Zfp608 T C 18: 55,030,653 (GRCm39) T1096A probably benign Het
Other mutations in Crk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02223:Crk APN 11 75,594,205 (GRCm39) missense probably damaging 0.99
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