Incidental Mutation 'IGL02945:Ctrc'
ID 364695
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctrc
Ensembl Gene ENSMUSG00000062478
Gene Name chymotrypsin C
Synonyms caldecrin, 1810044E12Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # IGL02945
Quality Score
Status
Chromosome 4
Chromosomal Location 141565550-141573598 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 141573563 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 6 (V6G)
Ref Sequence ENSEMBL: ENSMUSP00000101407 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037059] [ENSMUST00000105781]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000037059
AA Change: V6G

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000039879
Gene: ENSMUSG00000062478
AA Change: V6G

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Tryp_SPc 29 261 4.88e-87 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000105781
AA Change: V6G

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101407
Gene: ENSMUSG00000062478
AA Change: V6G

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Tryp_SPc 29 229 9.66e-59 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128368
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136064
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153282
Predicted Effect unknown
Transcript: ENSMUST00000176781
AA Change: V4G
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 member of the peptidase S1 family. The encoded protein is a serum calcium-decreasing factor that has chymotrypsin-like protease activity. Alternatively spliced transcript variants have been observed, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933411G06Rik A T 10: 51,633,095 (GRCm39) noncoding transcript Het
Adgrf4 T C 17: 42,978,257 (GRCm39) Q362R probably benign Het
Akap6 A G 12: 52,927,620 (GRCm39) N177D probably damaging Het
Alms1 A G 6: 85,597,915 (GRCm39) I914V probably damaging Het
Arhgap11a A T 2: 113,667,818 (GRCm39) S394R possibly damaging Het
Cacna1h C T 17: 25,607,033 (GRCm39) V962I probably damaging Het
Calr3 A T 8: 73,192,401 (GRCm39) L91Q probably damaging Het
Ccnf T C 17: 24,443,890 (GRCm39) E626G probably damaging Het
Clec10a A T 11: 70,061,368 (GRCm39) I295F possibly damaging Het
Cop1 A T 1: 159,134,259 (GRCm39) N167I probably benign Het
Csmd1 G T 8: 16,321,584 (GRCm39) Q505K possibly damaging Het
Cyp2c69 T C 19: 39,875,091 (GRCm39) R21G possibly damaging Het
Dnah5 A G 15: 28,270,572 (GRCm39) H958R probably benign Het
Egfr T A 11: 16,702,514 (GRCm39) L11Q probably damaging Het
Erich2 A G 2: 70,364,738 (GRCm39) T371A probably damaging Het
Fbxl21 T A 13: 56,674,983 (GRCm39) F111L probably damaging Het
Grik4 G T 9: 42,509,175 (GRCm39) T416N possibly damaging Het
Grin3a A G 4: 49,792,971 (GRCm39) V254A possibly damaging Het
Hat1 G A 2: 71,251,037 (GRCm39) R195K probably benign Het
Hmgb4 A C 4: 128,154,387 (GRCm39) Y60* probably null Het
Ighv12-3 A G 12: 114,330,337 (GRCm39) W53R probably damaging Het
Irs2 C A 8: 11,057,781 (GRCm39) C217F probably damaging Het
Kcnb1 T C 2: 167,030,308 (GRCm39) E79G probably benign Het
Lingo3 A G 10: 80,670,532 (GRCm39) I466T probably damaging Het
Lyst T C 13: 13,935,783 (GRCm39) S3665P possibly damaging Het
Myh9 A T 15: 77,646,205 (GRCm39) L1926Q probably benign Het
Myom1 A G 17: 71,399,088 (GRCm39) probably benign Het
Nbeal1 T C 1: 60,245,569 (GRCm39) F198L probably damaging Het
Nktr A G 9: 121,557,697 (GRCm39) T63A probably damaging Het
Nle1 A T 11: 82,794,910 (GRCm39) probably benign Het
Nr3c2 A T 8: 77,636,288 (GRCm39) D463V probably damaging Het
Or5k17 A T 16: 58,746,703 (GRCm39) I77N probably damaging Het
Or8b43 A G 9: 38,360,812 (GRCm39) I215V probably benign Het
Pcdhb18 T C 18: 37,623,048 (GRCm39) I126T probably benign Het
Pgm1 A G 4: 99,818,731 (GRCm39) I127V probably benign Het
Rai14 A G 15: 10,574,795 (GRCm39) I721T probably benign Het
Rps6ka1 A G 4: 133,594,510 (GRCm39) Y57H probably damaging Het
Scara3 T A 14: 66,168,660 (GRCm39) D319V probably damaging Het
Selp G A 1: 163,961,498 (GRCm39) G404S probably damaging Het
Serinc3 A G 2: 163,472,836 (GRCm39) probably benign Het
Slc4a8 A G 15: 100,705,080 (GRCm39) probably null Het
Spen G T 4: 141,221,624 (GRCm39) L325I unknown Het
Sphkap A T 1: 83,254,552 (GRCm39) S779T probably damaging Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Thumpd1 A T 7: 119,315,970 (GRCm39) S326R possibly damaging Het
Tmem255b T C 8: 13,505,141 (GRCm39) S149P probably damaging Het
Tnni3k A T 3: 154,743,075 (GRCm39) S95T possibly damaging Het
Trim66 G A 7: 109,059,383 (GRCm39) Q954* probably null Het
Ttn A T 2: 76,582,316 (GRCm39) I22859N probably damaging Het
Zfp319 A T 8: 96,050,446 (GRCm39) probably benign Het
Other mutations in Ctrc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01137:Ctrc APN 4 141,566,065 (GRCm39) missense possibly damaging 0.84
IGL01727:Ctrc APN 4 141,571,072 (GRCm39) missense probably damaging 1.00
IGL02085:Ctrc APN 4 141,571,025 (GRCm39) missense possibly damaging 0.79
IGL02413:Ctrc APN 4 141,571,028 (GRCm39) missense possibly damaging 0.87
R0625:Ctrc UTSW 4 141,568,829 (GRCm39) missense probably damaging 1.00
R1458:Ctrc UTSW 4 141,573,535 (GRCm39) splice site probably null
R1460:Ctrc UTSW 4 141,566,120 (GRCm39) intron probably benign
R3937:Ctrc UTSW 4 141,567,632 (GRCm39) missense probably damaging 1.00
R4724:Ctrc UTSW 4 141,573,607 (GRCm39) splice site probably null
R4750:Ctrc UTSW 4 141,568,834 (GRCm39) missense probably benign 0.38
R5207:Ctrc UTSW 4 141,567,695 (GRCm39) missense probably damaging 0.97
R5326:Ctrc UTSW 4 141,571,037 (GRCm39) missense probably damaging 0.96
R5542:Ctrc UTSW 4 141,571,037 (GRCm39) missense probably damaging 0.96
R5641:Ctrc UTSW 4 141,566,094 (GRCm39) missense probably damaging 0.97
R5872:Ctrc UTSW 4 141,572,354 (GRCm39) missense probably damaging 1.00
R6932:Ctrc UTSW 4 141,568,879 (GRCm39) missense probably damaging 1.00
R7329:Ctrc UTSW 4 141,571,022 (GRCm39) missense probably benign 0.17
R7485:Ctrc UTSW 4 141,567,627 (GRCm39) missense probably damaging 1.00
R8001:Ctrc UTSW 4 141,567,671 (GRCm39) missense probably damaging 1.00
R8117:Ctrc UTSW 4 141,565,972 (GRCm39) missense probably damaging 1.00
R9644:Ctrc UTSW 4 141,572,336 (GRCm39) missense probably damaging 1.00
T0722:Ctrc UTSW 4 141,572,507 (GRCm39) frame shift probably null
T0975:Ctrc UTSW 4 141,572,507 (GRCm39) frame shift probably null
Posted On 2015-12-18