Incidental Mutation 'IGL02085:Ctrc'
ID283518
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: 0.089) question?
Stock #IGL02085
Quality Score
Status
Chromosome4
Chromosomal Location141814962-141846359 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 141843714 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Asparagine at position 72 (D72N)
Ref Sequence ENSEMBL: ENSMUSP00000101407 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037059] [ENSMUST00000105781]
Predicted Effect possibly damaging
Transcript: ENSMUST00000037059
AA Change: D104N

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000039879
Gene: ENSMUSG00000062478
AA Change: D104N

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: D72N

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101407
Gene: ENSMUSG00000062478
AA Change: D72N

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 probably benign
Transcript: ENSMUST00000176781
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 A G 9: 44,281,557 probably null Het
Akr1c14 T A 13: 4,078,035 C145* probably null Het
Arhgef26 A G 3: 62,459,724 probably benign Het
Asb9 A G X: 164,535,456 M215V probably benign Het
Atoh8 C A 6: 72,235,173 probably benign Het
Atp6v1b1 T A 6: 83,753,915 probably benign Het
Cep97 T C 16: 55,915,505 E310G probably damaging Het
Dnah2 A G 11: 69,458,185 I2492T probably benign Het
Emilin2 A G 17: 71,275,149 V194A probably damaging Het
Epb41l5 T C 1: 119,572,856 T524A probably benign Het
Fam91a1 A G 15: 58,441,656 N497S possibly damaging Het
Gabpb1 A T 2: 126,639,271 C319* probably null Het
Galnt10 A G 11: 57,782,278 T487A probably benign Het
Hecw2 T A 1: 53,942,802 probably null Het
Hmg20a C T 9: 56,477,302 Q119* probably null Het
Ifi44l A G 3: 151,762,840 S18P unknown Het
Immt T A 6: 71,851,836 V125E probably benign Het
Ints13 T C 6: 146,549,939 probably benign Het
Lrp1b C T 2: 40,889,309 G2574S probably benign Het
Myoc T C 1: 162,639,774 C171R probably benign Het
Ncbp1 C T 4: 46,159,699 T404M probably damaging Het
Npy6r A G 18: 44,275,931 N140D probably damaging Het
Nrxn2 A T 19: 6,492,868 M1041L possibly damaging Het
Nsmaf G A 4: 6,398,551 P851L probably benign Het
Nutm2 T A 13: 50,473,793 probably null Het
Olfr117 A G 17: 37,659,688 V215A probably benign Het
Olfr1314 A C 2: 112,092,524 M59R probably damaging Het
Olfr1329 A G 4: 118,916,750 F239S probably damaging Het
Padi2 T G 4: 140,927,157 Y206* probably null Het
Pcdh19 A T X: 133,681,258 Y766* probably null Het
Pde12 A G 14: 26,666,464 probably benign Het
Ppl C T 16: 5,089,816 G872R probably benign Het
Prkag3 C T 1: 74,748,812 probably benign Het
Ptgfr T C 3: 151,835,800 T24A probably benign Het
Rpe65 T C 3: 159,615,646 V365A probably benign Het
Shank3 T C 15: 89,503,915 probably null Het
Slco1a6 T C 6: 142,086,474 T642A probably benign Het
Slco6d1 C A 1: 98,443,743 P275T probably damaging Het
Smarca1 G T X: 47,875,232 Q343K probably damaging Het
Smoc2 A G 17: 14,347,233 T180A possibly damaging Het
Tfrc G A 16: 32,621,186 V406I probably benign Het
Tigit C T 16: 43,649,110 G206D probably benign Het
Triobp G A 15: 78,974,297 probably benign Het
Trmo T C 4: 46,380,217 Y384C probably damaging Het
Vmn1r89 T A 7: 13,219,538 I67N probably damaging Het
Wdr17 C A 8: 54,687,736 E194* probably null 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
IGL02413:Ctrc APN 4 141843717 missense possibly damaging 0.87
IGL02945:Ctrc APN 4 141846252 missense possibly damaging 0.93
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
T0722:Ctrc UTSW 4 141845196 frame shift probably null
T0975:Ctrc UTSW 4 141845196 frame shift probably null
Posted On2015-04-16