Incidental Mutation 'IGL02945:Ctrc'
ID364695
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctrc
Ensembl Gene ENSMUSG00000062478
Gene Namechymotrypsin C (caldecrin)
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.106) question?
Stock #IGL02945
Quality Score
Status
Chromosome4
Chromosomal Location141814962-141846359 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 141846252 bp
ZygosityHeterozygous
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]
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: 51,756,999 noncoding transcript Het
Adgrf4 T C 17: 42,667,366 Q362R probably benign Het
Akap6 A G 12: 52,880,837 N177D probably damaging Het
Alms1 A G 6: 85,620,933 I914V probably damaging Het
Arhgap11a A T 2: 113,837,473 S394R possibly damaging Het
Cacna1h C T 17: 25,388,059 V962I probably damaging Het
Calr3 A T 8: 72,438,557 L91Q probably damaging Het
Ccnf T C 17: 24,224,916 E626G probably damaging Het
Clec10a A T 11: 70,170,542 I295F possibly damaging Het
Cop1 A T 1: 159,306,689 N167I probably benign Het
Csmd1 G T 8: 16,271,570 Q505K possibly damaging Het
Cyp2c69 T C 19: 39,886,647 R21G possibly damaging Het
Dnah5 A G 15: 28,270,426 H958R probably benign Het
Egfr T A 11: 16,752,514 L11Q probably damaging Het
Erich2 A G 2: 70,534,394 T371A probably damaging Het
Fbxl21 T A 13: 56,527,170 F111L probably damaging Het
Grik4 G T 9: 42,597,879 T416N possibly damaging Het
Grin3a A G 4: 49,792,971 V254A possibly damaging Het
Hat1 G A 2: 71,420,693 R195K probably benign Het
Hmgb4 A C 4: 128,260,594 Y60* probably null Het
Ighv12-3 A G 12: 114,366,717 W53R probably damaging Het
Irs2 C A 8: 11,007,781 C217F probably damaging Het
Kcnb1 T C 2: 167,188,388 E79G probably benign Het
Lingo3 A G 10: 80,834,698 I466T probably damaging Het
Lyst T C 13: 13,761,198 S3665P possibly damaging Het
Myh9 A T 15: 77,762,005 L1926Q probably benign Het
Myom1 A G 17: 71,092,093 probably benign Het
Nbeal1 T C 1: 60,206,410 F198L probably damaging Het
Nktr A G 9: 121,728,631 T63A probably damaging Het
Nle1 A T 11: 82,904,084 probably benign Het
Nr3c2 A T 8: 76,909,659 D463V probably damaging Het
Olfr181 A T 16: 58,926,340 I77N probably damaging Het
Olfr902 A G 9: 38,449,516 I215V probably benign Het
Pcdhb18 T C 18: 37,489,995 I126T probably benign Het
Pgm2 A G 4: 99,961,534 I127V probably benign Het
Rai14 A G 15: 10,574,709 I721T probably benign Het
Rps6ka1 A G 4: 133,867,199 Y57H probably damaging Het
Scara3 T A 14: 65,931,211 D319V probably damaging Het
Selp G A 1: 164,133,929 G404S probably damaging Het
Serinc3 A G 2: 163,630,916 probably benign Het
Slc4a8 A G 15: 100,807,199 probably null Het
Spen G T 4: 141,494,313 L325I unknown Het
Sphkap A T 1: 83,276,831 S779T probably damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Thumpd1 A T 7: 119,716,747 S326R possibly damaging Het
Tmem255b T C 8: 13,455,141 S149P probably damaging Het
Tnni3k A T 3: 155,037,438 S95T possibly damaging Het
Trim66 G A 7: 109,460,176 Q954* probably null Het
Ttn A T 2: 76,751,972 I22859N probably damaging Het
Zfp319 A T 8: 95,323,818 probably benign Het
Other mutations in Ctrc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01137:Ctrc APN 4 141838754 missense possibly damaging 0.84
IGL01727:Ctrc APN 4 141843761 missense probably damaging 1.00
IGL02085:Ctrc APN 4 141843714 missense possibly damaging 0.79
IGL02413:Ctrc APN 4 141843717 missense possibly damaging 0.87
R0625:Ctrc UTSW 4 141841518 missense probably damaging 1.00
R1458:Ctrc UTSW 4 141846224 splice site probably null
R1460:Ctrc UTSW 4 141838809 intron probably benign
R3937:Ctrc UTSW 4 141840321 missense probably damaging 1.00
R4724:Ctrc UTSW 4 141846296 unclassified probably null
R4750:Ctrc UTSW 4 141841523 missense probably benign 0.38
R5207:Ctrc UTSW 4 141840384 missense probably damaging 0.97
R5326:Ctrc UTSW 4 141843726 missense probably damaging 0.96
R5542:Ctrc UTSW 4 141843726 missense probably damaging 0.96
R5641:Ctrc UTSW 4 141838783 missense probably damaging 0.97
R5872:Ctrc UTSW 4 141845043 missense probably damaging 1.00
R6932:Ctrc UTSW 4 141841568 missense probably damaging 1.00
R7329:Ctrc UTSW 4 141843711 missense probably benign 0.17
R7485:Ctrc UTSW 4 141840316 missense probably damaging 1.00
R8001:Ctrc UTSW 4 141840360 missense probably damaging 1.00
R8117:Ctrc UTSW 4 141838661 missense probably damaging 1.00
T0722:Ctrc UTSW 4 141845196 frame shift probably null
T0975:Ctrc UTSW 4 141845196 frame shift probably null
Posted On2015-12-18