Incidental Mutation 'R6660:Cpxm1'
ID |
526797 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpxm1
|
Ensembl Gene |
ENSMUSG00000027408 |
Gene Name |
carboxypeptidase X, M14 family member 1 |
Synonyms |
Cpx-1 |
MMRRC Submission |
044780-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.462)
|
Stock # |
R6660 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
130232695-130239494 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 130238069 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 127
(S127P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028897
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028897]
|
AlphaFold |
Q9Z100 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028897
AA Change: S127P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000028897 Gene: ENSMUSG00000027408 AA Change: S127P
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
low complexity region
|
56 |
75 |
N/A |
INTRINSIC |
FA58C
|
104 |
263 |
1.44e-28 |
SMART |
Zn_pept
|
410 |
699 |
5.77e-50 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000120139
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130533
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.5%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene likely encodes a member of the carboxypeptidase family of proteins. Cloning of a comparable locus in mouse indicates that the encoded protein contains a discoidin domain and a carboxypeptidase domain, but the protein appears to lack residues necessary for carboxypeptidase activity.[provided by RefSeq, May 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actg1 |
A |
T |
11: 120,237,581 (GRCm39) |
I289N |
probably damaging |
Het |
Atg5 |
A |
G |
10: 44,170,651 (GRCm39) |
N99S |
probably benign |
Het |
Ccdc88a |
A |
G |
11: 29,432,663 (GRCm39) |
Q1223R |
probably benign |
Het |
Cdc42 |
T |
C |
4: 137,056,145 (GRCm39) |
D122G |
probably benign |
Het |
Cyfip2 |
A |
G |
11: 46,140,634 (GRCm39) |
C730R |
possibly damaging |
Het |
Ddx60 |
T |
A |
8: 62,409,273 (GRCm39) |
H436Q |
probably benign |
Het |
Dnah17 |
T |
C |
11: 117,991,014 (GRCm39) |
Y1236C |
probably benign |
Het |
Ep400 |
G |
A |
5: 110,867,313 (GRCm39) |
R1000* |
probably null |
Het |
Ergic3 |
A |
G |
2: 155,859,754 (GRCm39) |
I227V |
probably damaging |
Het |
Fam227b |
G |
T |
2: 125,986,227 (GRCm39) |
P13Q |
probably damaging |
Het |
Gal |
A |
G |
19: 3,460,108 (GRCm39) |
L121P |
possibly damaging |
Het |
Garin2 |
T |
C |
12: 78,762,131 (GRCm39) |
V265A |
possibly damaging |
Het |
Ifi207 |
T |
C |
1: 173,556,972 (GRCm39) |
T589A |
probably benign |
Het |
Intu |
T |
C |
3: 40,586,100 (GRCm39) |
V27A |
probably benign |
Het |
Lama1 |
A |
T |
17: 68,111,495 (GRCm39) |
I2249L |
probably benign |
Het |
Pdc |
T |
C |
1: 150,209,086 (GRCm39) |
Y190H |
probably damaging |
Het |
Pmm2 |
T |
C |
16: 8,473,506 (GRCm39) |
L240P |
probably damaging |
Het |
Polr1a |
T |
C |
6: 71,944,358 (GRCm39) |
V1275A |
probably damaging |
Het |
Rgsl1 |
T |
A |
1: 153,701,512 (GRCm39) |
N314I |
possibly damaging |
Het |
Rpe65 |
A |
T |
3: 159,320,345 (GRCm39) |
N301Y |
probably damaging |
Het |
Ryr1 |
A |
G |
7: 28,737,770 (GRCm39) |
|
probably null |
Het |
Sh3bp4 |
A |
G |
1: 89,080,888 (GRCm39) |
S902G |
possibly damaging |
Het |
Slc44a4 |
A |
T |
17: 35,149,201 (GRCm39) |
R705W |
probably damaging |
Het |
Slc4a10 |
A |
G |
2: 62,080,747 (GRCm39) |
I325V |
possibly damaging |
Het |
Spns1 |
A |
G |
7: 125,974,237 (GRCm39) |
|
probably null |
Het |
Syt6 |
T |
G |
3: 103,532,960 (GRCm39) |
L363R |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,544,759 (GRCm39) |
V32781A |
probably benign |
Het |
Ube2l6 |
A |
G |
2: 84,636,852 (GRCm39) |
T99A |
probably damaging |
Het |
Unc13b |
A |
T |
4: 43,177,412 (GRCm39) |
|
probably benign |
Het |
Vmn1r189 |
A |
T |
13: 22,286,066 (GRCm39) |
L257H |
possibly damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Zfpm2 |
T |
C |
15: 40,518,981 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Cpxm1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00264:Cpxm1
|
APN |
2 |
130,237,863 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01327:Cpxm1
|
APN |
2 |
130,238,277 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01373:Cpxm1
|
APN |
2 |
130,236,055 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01622:Cpxm1
|
APN |
2 |
130,233,191 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01623:Cpxm1
|
APN |
2 |
130,233,191 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01981:Cpxm1
|
APN |
2 |
130,236,060 (GRCm39) |
nonsense |
probably null |
|
IGL02031:Cpxm1
|
APN |
2 |
130,235,601 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02369:Cpxm1
|
APN |
2 |
130,238,344 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03057:Cpxm1
|
APN |
2 |
130,235,109 (GRCm39) |
missense |
probably damaging |
1.00 |
BB007:Cpxm1
|
UTSW |
2 |
130,236,982 (GRCm39) |
missense |
possibly damaging |
0.95 |
BB017:Cpxm1
|
UTSW |
2 |
130,236,982 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0316:Cpxm1
|
UTSW |
2 |
130,235,091 (GRCm39) |
missense |
probably damaging |
1.00 |
R0544:Cpxm1
|
UTSW |
2 |
130,235,055 (GRCm39) |
missense |
probably damaging |
1.00 |
R0726:Cpxm1
|
UTSW |
2 |
130,232,859 (GRCm39) |
missense |
probably damaging |
0.96 |
R0944:Cpxm1
|
UTSW |
2 |
130,239,423 (GRCm39) |
missense |
probably damaging |
1.00 |
R1334:Cpxm1
|
UTSW |
2 |
130,235,483 (GRCm39) |
missense |
probably damaging |
0.99 |
R1366:Cpxm1
|
UTSW |
2 |
130,238,042 (GRCm39) |
missense |
probably damaging |
1.00 |
R1429:Cpxm1
|
UTSW |
2 |
130,238,364 (GRCm39) |
missense |
probably damaging |
0.98 |
R1654:Cpxm1
|
UTSW |
2 |
130,235,466 (GRCm39) |
missense |
possibly damaging |
0.51 |
R1824:Cpxm1
|
UTSW |
2 |
130,237,617 (GRCm39) |
missense |
probably damaging |
0.99 |
R2144:Cpxm1
|
UTSW |
2 |
130,239,330 (GRCm39) |
missense |
probably benign |
0.00 |
R2200:Cpxm1
|
UTSW |
2 |
130,235,117 (GRCm39) |
missense |
probably damaging |
1.00 |
R2320:Cpxm1
|
UTSW |
2 |
130,236,131 (GRCm39) |
missense |
probably damaging |
1.00 |
R2434:Cpxm1
|
UTSW |
2 |
130,236,004 (GRCm39) |
missense |
probably damaging |
1.00 |
R3118:Cpxm1
|
UTSW |
2 |
130,235,493 (GRCm39) |
missense |
possibly damaging |
0.80 |
R4601:Cpxm1
|
UTSW |
2 |
130,235,496 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5020:Cpxm1
|
UTSW |
2 |
130,237,897 (GRCm39) |
splice site |
probably null |
|
R5041:Cpxm1
|
UTSW |
2 |
130,235,990 (GRCm39) |
missense |
probably damaging |
1.00 |
R5727:Cpxm1
|
UTSW |
2 |
130,232,883 (GRCm39) |
nonsense |
probably null |
|
R5806:Cpxm1
|
UTSW |
2 |
130,239,393 (GRCm39) |
missense |
probably damaging |
1.00 |
R7431:Cpxm1
|
UTSW |
2 |
130,235,966 (GRCm39) |
missense |
probably benign |
0.00 |
R7491:Cpxm1
|
UTSW |
2 |
130,235,487 (GRCm39) |
missense |
probably benign |
0.22 |
R7743:Cpxm1
|
UTSW |
2 |
130,235,342 (GRCm39) |
missense |
probably benign |
0.01 |
R7930:Cpxm1
|
UTSW |
2 |
130,236,982 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8375:Cpxm1
|
UTSW |
2 |
130,236,146 (GRCm39) |
missense |
probably damaging |
1.00 |
R8783:Cpxm1
|
UTSW |
2 |
130,237,643 (GRCm39) |
missense |
probably benign |
0.01 |
R8900:Cpxm1
|
UTSW |
2 |
130,235,360 (GRCm39) |
missense |
probably damaging |
1.00 |
R9738:Cpxm1
|
UTSW |
2 |
130,235,302 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGCGCCATCATACAGGTCAC -3'
(R):5'- CTGAGAAACAAGAACCAGGTATTGC -3'
Sequencing Primer
(F):5'- CTGACTGTGGACACAAGGTC -3'
(R):5'- TATTGCTTACCCAGGGGCC -3'
|
Posted On |
2018-07-23 |