Incidental Mutation 'IGL02413:Ctrc'
| ID |
292342 |
| 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: 0.082)
|
| Stock # |
IGL02413
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
141565550-141573598 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 141571028 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| AlphaFold |
no structure available at present |
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
C |
A |
16: 20,241,187 (GRCm39) |
|
probably benign |
Het |
| Afap1l1 |
A |
G |
18: 61,866,860 (GRCm39) |
L733P |
probably benign |
Het |
| Aqr |
G |
A |
2: 113,949,261 (GRCm39) |
A979V |
possibly damaging |
Het |
| Axin1 |
A |
G |
17: 26,407,153 (GRCm39) |
E582G |
probably benign |
Het |
| Catsper1 |
T |
C |
19: 5,386,264 (GRCm39) |
S166P |
possibly damaging |
Het |
| Cd248 |
G |
T |
19: 5,120,201 (GRCm39) |
G683V |
probably damaging |
Het |
| Celsr1 |
G |
T |
15: 85,915,427 (GRCm39) |
Q849K |
possibly damaging |
Het |
| Ctnnal1 |
C |
A |
4: 56,835,306 (GRCm39) |
V324F |
probably benign |
Het |
| Exoc3l |
C |
A |
8: 106,019,070 (GRCm39) |
D465Y |
probably damaging |
Het |
| Flna |
T |
C |
X: 73,284,888 (GRCm39) |
E417G |
probably benign |
Het |
| Grm6 |
T |
A |
11: 50,750,766 (GRCm39) |
V643D |
probably damaging |
Het |
| Inpp4b |
A |
G |
8: 82,759,800 (GRCm39) |
Y615C |
probably benign |
Het |
| Itga3 |
T |
C |
11: 94,959,597 (GRCm39) |
Y92C |
probably damaging |
Het |
| Jak3 |
T |
C |
8: 72,138,763 (GRCm39) |
|
probably null |
Het |
| Kcnh6 |
T |
A |
11: 105,918,460 (GRCm39) |
I823N |
possibly damaging |
Het |
| Klhl38 |
A |
T |
15: 58,186,417 (GRCm39) |
V104D |
probably damaging |
Het |
| Lpo |
C |
T |
11: 87,697,732 (GRCm39) |
V692M |
possibly damaging |
Het |
| Mnd1 |
T |
C |
3: 84,023,786 (GRCm39) |
H100R |
probably benign |
Het |
| Mterf4 |
A |
G |
1: 93,230,526 (GRCm39) |
F207L |
probably damaging |
Het |
| Oog3 |
C |
A |
4: 143,884,721 (GRCm39) |
W405L |
probably benign |
Het |
| Or2t26 |
T |
C |
11: 49,039,384 (GRCm39) |
L100P |
probably damaging |
Het |
| Ptpn3 |
A |
G |
4: 57,205,020 (GRCm39) |
Y714H |
probably damaging |
Het |
| Spata31f3 |
T |
C |
4: 42,868,549 (GRCm39) |
D358G |
probably damaging |
Het |
| Steap3 |
T |
C |
1: 120,169,502 (GRCm39) |
Y265C |
probably damaging |
Het |
| Tcl1 |
C |
A |
12: 105,185,082 (GRCm39) |
E43* |
probably null |
Het |
| Terb1 |
A |
G |
8: 105,221,500 (GRCm39) |
|
probably null |
Het |
| Tmprss11a |
T |
A |
5: 86,570,507 (GRCm39) |
I151F |
possibly damaging |
Het |
| Trappc10 |
T |
C |
10: 78,046,610 (GRCm39) |
R430G |
probably damaging |
Het |
| Usp17le |
T |
C |
7: 104,418,933 (GRCm39) |
N70D |
probably benign |
Het |
| Vmn1r45 |
T |
C |
6: 89,910,503 (GRCm39) |
S36G |
possibly damaging |
Het |
| Vsig8 |
A |
C |
1: 172,387,943 (GRCm39) |
Y11S |
probably damaging |
Het |
| Vwa5b2 |
T |
A |
16: 20,416,851 (GRCm39) |
L516Q |
probably damaging |
Het |
|
| Other mutations in Ctrc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
IGL02945:Ctrc
|
APN |
4 |
141,573,563 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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 |
2015-04-16 |
Incidental Mutation