Incidental Mutation 'R8001:Ctrc'
| ID |
616354 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ctrc
|
| Ensembl Gene |
ENSMUSG00000062478 |
| Gene Name |
chymotrypsin C |
| Synonyms |
caldecrin, 1810044E12Rik |
| MMRRC Submission |
046041-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R8001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
141565550-141573598 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 141567671 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 144
(L144Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101407
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037059]
[ENSMUST00000105781]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037059
AA Change: L176Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000039879
Gene: ENSMUSG00000062478
AA Change: L176Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
29 |
261 |
4.88e-87 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105781
AA Change: L144Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101407
Gene: ENSMUSG00000062478
AA Change: L144Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
29 |
229 |
9.66e-59 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176781
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acr |
A |
G |
15: 89,458,165 (GRCm39) |
Y282C |
probably damaging |
Het |
| Alkbh4 |
A |
G |
5: 136,169,123 (GRCm39) |
R136G |
probably damaging |
Het |
| Bptf |
C |
A |
11: 106,938,166 (GRCm39) |
E2* |
probably null |
Het |
| Cse1l |
T |
A |
2: 166,781,833 (GRCm39) |
F659Y |
probably damaging |
Het |
| Elmo1 |
A |
G |
13: 20,470,902 (GRCm39) |
I265V |
probably benign |
Het |
| Erich3 |
T |
C |
3: 154,419,553 (GRCm39) |
S19P |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,540,629 (GRCm39) |
C2893* |
probably null |
Het |
| Hnrnpll |
G |
A |
17: 80,346,152 (GRCm39) |
Q370* |
probably null |
Het |
| Itpkb |
T |
C |
1: 180,160,059 (GRCm39) |
S62P |
probably damaging |
Het |
| Lig3 |
T |
A |
11: 82,682,902 (GRCm39) |
C501S |
probably benign |
Het |
| Mab21l4 |
A |
G |
1: 93,082,321 (GRCm39) |
L266P |
probably damaging |
Het |
| Nrxn1 |
C |
T |
17: 91,395,964 (GRCm39) |
R64H |
possibly damaging |
Het |
| Ogfod2 |
T |
G |
5: 124,252,946 (GRCm39) |
C319G |
probably damaging |
Het |
| Or51h1 |
A |
T |
7: 102,308,241 (GRCm39) |
D71V |
probably damaging |
Het |
| Or5ac19 |
T |
C |
16: 59,089,472 (GRCm39) |
N186S |
probably benign |
Het |
| Or5b118 |
A |
G |
19: 13,448,786 (GRCm39) |
I109V |
probably benign |
Het |
| Or9k7 |
A |
G |
10: 130,046,729 (GRCm39) |
V90A |
probably benign |
Het |
| Pabpc6 |
C |
A |
17: 9,888,302 (GRCm39) |
R83L |
probably damaging |
Het |
| Pcdhgb2 |
A |
T |
18: 37,823,687 (GRCm39) |
Q226L |
probably benign |
Het |
| Pole |
A |
T |
5: 110,460,600 (GRCm39) |
I1127F |
probably damaging |
Het |
| Psg22 |
A |
T |
7: 18,453,671 (GRCm39) |
Q161L |
possibly damaging |
Het |
| Slc17a7 |
A |
T |
7: 44,818,212 (GRCm39) |
T46S |
probably benign |
Het |
| Smad4 |
A |
G |
18: 73,774,881 (GRCm39) |
S473P |
probably damaging |
Het |
| Snap47 |
T |
A |
11: 59,329,180 (GRCm39) |
T41S |
probably benign |
Het |
| Snx21 |
T |
C |
2: 164,628,657 (GRCm39) |
L100P |
probably benign |
Het |
| Stc1 |
T |
A |
14: 69,275,844 (GRCm39) |
N212K |
probably benign |
Het |
| Stk32a |
A |
T |
18: 43,448,209 (GRCm39) |
N396I |
possibly damaging |
Het |
| Stox2 |
G |
A |
8: 47,639,512 (GRCm39) |
P894L |
probably benign |
Het |
| Trav16d-dv11 |
A |
G |
14: 53,284,744 (GRCm39) |
M1V |
probably null |
Het |
| Trim33 |
T |
C |
3: 103,218,831 (GRCm39) |
|
probably null |
Het |
| Tyrp1 |
T |
C |
4: 80,758,907 (GRCm39) |
V260A |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,643,261 (GRCm39) |
Y4208H |
probably damaging |
Het |
| Vmn1r25 |
T |
A |
6: 57,956,065 (GRCm39) |
K75* |
probably null |
Het |
| Vmn2r117 |
T |
A |
17: 23,698,381 (GRCm39) |
N64I |
possibly damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,695,492 (GRCm39) |
|
probably null |
Het |
| Wnt8a |
A |
T |
18: 34,678,569 (GRCm39) |
I128F |
probably damaging |
Het |
| Zc3h7b |
C |
A |
15: 81,663,461 (GRCm39) |
Y484* |
probably null |
Het |
| Zfp619 |
A |
G |
7: 39,184,645 (GRCm39) |
K225R |
probably benign |
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 |
|
IGL02413:Ctrc
|
APN |
4 |
141,571,028 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGATGGCTTTCCCTTAGGC -3'
(R):5'- GGAACTGTGACCCAAAGACATG -3'
Sequencing Primer
(F):5'- TTAGGCCCGCATGGTTCAC -3'
(R):5'- AGACATGAACCATCTCAATGAGG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation