Incidental Mutation 'R1366:Cpxm1'
| ID |
156025 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpxm1
|
| Ensembl Gene |
ENSMUSG00000027408 |
| Gene Name |
carboxypeptidase X, M14 family member 1 |
| Synonyms |
Cpx-1 |
| MMRRC Submission |
039431-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.458)
|
| Stock # |
R1366 (G1)
|
| Quality Score |
200 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
130232695-130239494 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 130238042 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 136
(R136W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028897
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028897]
|
| AlphaFold |
Q9Z100 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028897
AA Change: R136W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028897
Gene: ENSMUSG00000027408
AA Change: R136W
| 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
|
| Meta Mutation Damage Score |
0.8048 |
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.1%
- 10x: 92.3%
- 20x: 80.8%
|
| Validation Efficiency |
93% (43/46) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
T |
5: 77,036,651 (GRCm39) |
S297T |
probably benign |
Het |
| Acsm1 |
T |
C |
7: 119,257,511 (GRCm39) |
|
probably benign |
Het |
| Ankar |
T |
A |
1: 72,737,808 (GRCm39) |
N125Y |
probably damaging |
Het |
| Ccdc121 |
T |
A |
5: 31,644,861 (GRCm39) |
C205S |
probably benign |
Het |
| Chd1l |
T |
C |
3: 97,488,465 (GRCm39) |
D517G |
probably damaging |
Het |
| Cir1 |
A |
T |
2: 73,136,757 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
A |
T |
5: 124,830,390 (GRCm39) |
E761D |
probably benign |
Het |
| Fam186a |
T |
A |
15: 99,841,270 (GRCm39) |
E1658V |
possibly damaging |
Het |
| Fam98a |
A |
G |
17: 75,846,381 (GRCm39) |
|
probably benign |
Het |
| Fanca |
G |
A |
8: 124,031,020 (GRCm39) |
|
probably benign |
Het |
| Frmd6 |
T |
C |
12: 70,934,663 (GRCm39) |
|
probably benign |
Het |
| Gmpr2 |
T |
C |
14: 55,914,200 (GRCm39) |
|
probably benign |
Het |
| Hck |
G |
A |
2: 152,980,215 (GRCm39) |
G348D |
probably damaging |
Het |
| Ifnab |
T |
A |
4: 88,609,337 (GRCm39) |
Q43L |
possibly damaging |
Het |
| Ilkap |
A |
G |
1: 91,314,937 (GRCm39) |
I142T |
possibly damaging |
Het |
| Lamc3 |
T |
C |
2: 31,818,859 (GRCm39) |
S1206P |
probably damaging |
Het |
| Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
| Mid1 |
A |
C |
X: 168,769,090 (GRCm39) |
N215H |
probably damaging |
Het |
| Mkrn1 |
T |
C |
6: 39,382,851 (GRCm39) |
T134A |
probably benign |
Het |
| Mmp9 |
T |
A |
2: 164,795,262 (GRCm39) |
V628E |
probably damaging |
Het |
| Msi2 |
A |
T |
11: 88,607,406 (GRCm39) |
V67D |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 26,969,236 (GRCm39) |
V630E |
probably damaging |
Het |
| Nkain1 |
A |
G |
4: 130,537,316 (GRCm38) |
V73A |
probably damaging |
Het |
| Nphp4 |
T |
A |
4: 152,587,383 (GRCm39) |
D245E |
probably damaging |
Het |
| Or14j3 |
T |
C |
17: 37,900,655 (GRCm39) |
I196M |
probably benign |
Het |
| Or7a41 |
T |
G |
10: 78,870,876 (GRCm39) |
M82R |
probably damaging |
Het |
| Or9g8 |
G |
A |
2: 85,607,348 (GRCm39) |
C140Y |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,891,038 (GRCm39) |
|
probably benign |
Het |
| Plcxd1 |
A |
C |
5: 110,250,096 (GRCm39) |
I184L |
probably damaging |
Het |
| Prl3b1 |
G |
A |
13: 27,427,848 (GRCm39) |
A53T |
probably benign |
Het |
| Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
| Scube2 |
A |
G |
7: 109,403,821 (GRCm39) |
Y890H |
probably damaging |
Het |
| Slco6c1 |
T |
A |
1: 97,055,928 (GRCm39) |
|
probably null |
Het |
| Tnfaip2 |
T |
G |
12: 111,415,756 (GRCm39) |
F485V |
probably benign |
Het |
| Tpd52 |
T |
C |
3: 9,028,993 (GRCm39) |
D17G |
probably damaging |
Het |
| Ube4b |
T |
C |
4: 149,419,606 (GRCm39) |
D1034G |
probably damaging |
Het |
| Vmn2r118 |
G |
A |
17: 55,900,237 (GRCm39) |
Q556* |
probably null |
Het |
| Zftraf1 |
T |
C |
15: 76,533,169 (GRCm39) |
R190G |
probably damaging |
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 |
|
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 |
|
R6660:Cpxm1
|
UTSW |
2 |
130,238,069 (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'- ATCATACAGGTCACCGTCCTCCAG -3'
(R):5'- CATGTCCGGCTTCGAGTCATCAAG -3'
Sequencing Primer
(F):5'- TCCAGACCTGACTGTGGAC -3'
(R):5'- GAACCAGGTATTGCTTACCCAGG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation