Incidental Mutation 'IGL00863:Cript'
ID 9892
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cript
Ensembl Gene ENSMUSG00000024146
Gene Name cysteine-rich PDZ-binding protein
Synonyms CRIPT, 1200020A08Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00863
Quality Score
Status
Chromosome 17
Chromosomal Location 87332989-87343236 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 87335151 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 14 (I14N)
Ref Sequence ENSEMBL: ENSMUSP00000024959 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024957] [ENSMUST00000024959] [ENSMUST00000160269]
AlphaFold O70333
Predicted Effect probably benign
Transcript: ENSMUST00000024957
SMART Domains Protein: ENSMUSP00000024957
Gene: ENSMUSG00000024145

DomainStartEndE-ValueType
Pfam:PIG-F 21 204 1.6e-50 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000024959
AA Change: I14N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000024959
Gene: ENSMUSG00000024146
AA Change: I14N

DomainStartEndE-ValueType
Pfam:Cript 11 101 2e-37 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000160269
AA Change: I23N

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000124994
Gene: ENSMUSG00000024146
AA Change: I23N

DomainStartEndE-ValueType
Pfam:Cript 20 109 2e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160824
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that binds to the PDZ3 peptide recognition domain. The encoded protein may modulates protein interactions with the cytoskeleton. A mutation in this gene resulted in short stature with microcephaly and distinctive facies. [provided by RefSeq, Jun 2014]
PHENOTYPE: Mice homozygous for a transposon induced allele exhibit embryonic lethality at E8. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bsn A G 9: 107,992,521 (GRCm39) I1077T probably damaging Het
Car8 A G 4: 8,183,251 (GRCm39) probably null Het
Ccdc192 A T 18: 57,727,158 (GRCm39) E136V probably damaging Het
Ccny A T 18: 9,345,444 (GRCm39) D143E probably benign Het
Cdh19 A G 1: 110,876,874 (GRCm39) V155A probably damaging Het
Crygd C T 1: 65,101,250 (GRCm39) R115Q probably benign Het
Cyria A T 12: 12,409,235 (GRCm39) I72F probably benign Het
Eef1b2 G A 1: 63,217,665 (GRCm39) G91R probably damaging Het
Fbln5 A G 12: 101,776,175 (GRCm39) V60A probably damaging Het
Fbn1 T A 2: 125,245,139 (GRCm39) E249D possibly damaging Het
G6pc1 G T 11: 101,261,549 (GRCm39) R83L probably damaging Het
Grik2 A G 10: 49,232,024 (GRCm39) V502A possibly damaging Het
Heatr1 T C 13: 12,450,009 (GRCm39) V2001A probably benign Het
Il4i1 T A 7: 44,487,470 (GRCm39) Y148* probably null Het
Jmjd4 T C 11: 59,341,569 (GRCm39) S113P probably benign Het
Nceh1 C T 3: 27,295,462 (GRCm39) P241L probably damaging Het
Pals1 A G 12: 78,856,595 (GRCm39) D146G probably damaging Het
Pcdh10 T A 3: 45,334,737 (GRCm39) D350E probably damaging Het
Pdgfrl A G 8: 41,438,571 (GRCm39) E169G probably damaging Het
Ppm1l T A 3: 69,225,283 (GRCm39) D128E probably damaging Het
Rasa1 A G 13: 85,436,548 (GRCm39) V160A probably benign Het
Serf2 T C 2: 121,288,184 (GRCm39) probably null Het
Slitrk1 T A 14: 109,149,269 (GRCm39) N481Y probably damaging Het
Tas2r139 T G 6: 42,118,055 (GRCm39) S62R probably damaging Het
Tdpoz4 A T 3: 93,704,380 (GRCm39) T226S probably benign Het
Tvp23b C A 11: 62,774,464 (GRCm39) A36E probably damaging Het
Upp2 G A 2: 58,680,076 (GRCm39) E301K probably benign Het
Other mutations in Cript
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2317:Cript UTSW 17 87,335,139 (GRCm39) missense probably benign 0.17
R7276:Cript UTSW 17 87,341,696 (GRCm39) nonsense probably null
R9009:Cript UTSW 17 87,338,475 (GRCm39) missense probably damaging 0.97
Posted On 2012-12-06