Incidental Mutation 'IGL02413:Ctrc'
ID292342
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: 0.076) question?
Stock #IGL02413
Quality Score
Status
Chromosome4
Chromosomal Location141814962-141846359 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 141843717 bp
ZygosityHeterozygous
Amino Acid Change Valine to Leucine at position 71 (V71L)
Ref Sequence ENSEMBL: ENSMUSP00000101407 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037059] [ENSMUST00000105781]
Predicted Effect possibly damaging
Transcript: ENSMUST00000037059
AA Change: V103L

PolyPhen 2 Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000039879
Gene: ENSMUSG00000062478
AA Change: V103L

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: V71L

PolyPhen 2 Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101407
Gene: ENSMUSG00000062478
AA Change: V71L

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 C A 16: 20,422,437 probably benign Het
Afap1l1 A G 18: 61,733,789 L733P probably benign Het
Aqr G A 2: 114,118,780 A979V possibly damaging Het
Axin1 A G 17: 26,188,179 E582G probably benign Het
Catsper1 T C 19: 5,336,236 S166P possibly damaging Het
Cd248 G T 19: 5,070,173 G683V probably damaging Het
Celsr1 G T 15: 86,031,226 Q849K possibly damaging Het
Ctnnal1 C A 4: 56,835,306 V324F probably benign Het
Exoc3l C A 8: 105,292,438 D465Y probably damaging Het
Fam205c T C 4: 42,868,549 D358G probably damaging Het
Flna T C X: 74,241,282 E417G probably benign Het
Grm6 T A 11: 50,859,939 V643D probably damaging Het
Inpp4b A G 8: 82,033,171 Y615C probably benign Het
Itga3 T C 11: 95,068,771 Y92C probably damaging Het
Jak3 T C 8: 71,686,119 probably null Het
Kcnh6 T A 11: 106,027,634 I823N possibly damaging Het
Klhl38 A T 15: 58,323,021 V104D probably damaging Het
Lpo C T 11: 87,806,906 V692M possibly damaging Het
Mnd1 T C 3: 84,116,479 H100R probably benign Het
Mterf4 A G 1: 93,302,804 F207L probably damaging Het
Olfr1395 T C 11: 49,148,557 L100P probably damaging Het
Oog3 C A 4: 144,158,151 W405L probably benign Het
Ptpn3 A G 4: 57,205,020 Y714H probably damaging Het
Steap3 T C 1: 120,241,772 Y265C probably damaging Het
Tcl1 C A 12: 105,218,823 E43* probably null Het
Terb1 A G 8: 104,494,868 probably null Het
Tmprss11a T A 5: 86,422,648 I151F possibly damaging Het
Trappc10 T C 10: 78,210,776 R430G probably damaging Het
Usp17le T C 7: 104,769,726 N70D probably benign Het
Vmn1r45 T C 6: 89,933,521 S36G possibly damaging Het
Vsig8 A C 1: 172,560,376 Y11S probably damaging Het
Vwa5b2 T A 16: 20,598,101 L516Q probably damaging 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
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 splice site 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 On2015-04-16