Incidental Mutation 'R5041:Cpxm1'
ID |
393200 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpxm1
|
Ensembl Gene |
ENSMUSG00000027408 |
Gene Name |
carboxypeptidase X, M14 family member 1 |
Synonyms |
Cpx-1 |
MMRRC Submission |
042631-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.462)
|
Stock # |
R5041 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
130232695-130239494 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 130235990 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 391
(S391P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028897
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028897]
|
AlphaFold |
Q9Z100 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028897
AA Change: S391P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000028897 Gene: ENSMUSG00000027408 AA Change: S391P
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: ENSMUST00000130533
|
Meta Mutation Damage Score |
0.5918 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.5%
|
Validation Efficiency |
98% (42/43) |
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 |
Adgrg7 |
A |
G |
16: 56,550,711 (GRCm39) |
F667S |
probably benign |
Het |
Akna |
A |
G |
4: 63,305,381 (GRCm39) |
Y462H |
possibly damaging |
Het |
Anxa11 |
G |
T |
14: 25,875,188 (GRCm39) |
E278* |
probably null |
Het |
Ap3s2 |
T |
C |
7: 79,570,267 (GRCm39) |
Y20C |
probably benign |
Het |
Atxn7 |
T |
C |
14: 14,096,317 (GRCm38) |
|
probably null |
Het |
AW551984 |
T |
C |
9: 39,511,894 (GRCm39) |
Y39C |
probably damaging |
Het |
Becn1 |
A |
T |
11: 101,179,662 (GRCm39) |
S442T |
probably benign |
Het |
Bhlhe40 |
C |
T |
6: 108,639,546 (GRCm39) |
T108I |
probably damaging |
Het |
Cnst |
A |
G |
1: 179,432,593 (GRCm39) |
D252G |
probably damaging |
Het |
Ctnna2 |
T |
A |
6: 76,892,746 (GRCm39) |
N814Y |
probably damaging |
Het |
Ddx3y |
T |
A |
Y: 1,266,611 (GRCm39) |
Y282F |
probably benign |
Het |
Ddx56 |
A |
G |
11: 6,214,178 (GRCm39) |
V357A |
probably damaging |
Het |
Frmpd1 |
T |
G |
4: 45,278,878 (GRCm39) |
C534W |
probably damaging |
Het |
Gimap8 |
A |
G |
6: 48,636,097 (GRCm39) |
N621D |
probably damaging |
Het |
Herc1 |
T |
A |
9: 66,336,327 (GRCm39) |
I1624N |
possibly damaging |
Het |
Htr7 |
A |
C |
19: 36,034,467 (GRCm39) |
W63G |
probably benign |
Het |
Ly6g6c |
T |
A |
17: 35,284,428 (GRCm39) |
|
probably null |
Het |
Macf1 |
T |
C |
4: 123,290,839 (GRCm39) |
|
probably null |
Het |
Mfrp |
A |
G |
9: 44,013,575 (GRCm39) |
D62G |
probably damaging |
Het |
Ncam1 |
T |
C |
9: 49,478,085 (GRCm39) |
Y173C |
probably damaging |
Het |
Nwd1 |
T |
C |
8: 73,431,683 (GRCm39) |
V1185A |
possibly damaging |
Het |
Or4c113 |
A |
T |
2: 88,885,265 (GRCm39) |
C168* |
probably null |
Het |
Or51h7 |
T |
C |
7: 102,591,785 (GRCm39) |
|
probably null |
Het |
Pcf11 |
G |
A |
7: 92,307,613 (GRCm39) |
P852S |
probably benign |
Het |
Pramel25 |
T |
C |
4: 143,520,260 (GRCm39) |
V4A |
probably benign |
Het |
Ralgapa2 |
T |
C |
2: 146,327,071 (GRCm39) |
I63V |
probably benign |
Het |
Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,229,132 (GRCm39) |
|
probably benign |
Het |
Rubcnl |
T |
C |
14: 75,287,572 (GRCm39) |
F619L |
probably damaging |
Het |
Sec24d |
A |
T |
3: 123,087,880 (GRCm39) |
Q247L |
probably damaging |
Het |
Spmap2l |
A |
G |
5: 77,203,928 (GRCm39) |
T319A |
probably benign |
Het |
Spns3 |
G |
T |
11: 72,427,373 (GRCm39) |
Q306K |
possibly damaging |
Het |
Sstr1 |
T |
C |
12: 58,259,941 (GRCm39) |
V188A |
possibly damaging |
Het |
Supt5 |
A |
T |
7: 28,014,805 (GRCm39) |
L1024Q |
probably damaging |
Het |
Tent4b |
CCCAACAACGCCAACAA |
CCCAACAA |
8: 88,981,878 (GRCm39) |
|
probably benign |
Het |
Unc13b |
T |
A |
4: 43,237,836 (GRCm39) |
H3452Q |
probably benign |
Het |
Usp28 |
A |
G |
9: 48,949,073 (GRCm39) |
Q864R |
probably benign |
Het |
Vmn2r43 |
T |
C |
7: 8,247,806 (GRCm39) |
T786A |
probably damaging |
Het |
Yy1 |
TCACCACCACCACCACCACCACCACCACC |
TCACCACCACCACCACCACCACCACCACCACC |
12: 108,759,557 (GRCm39) |
|
probably benign |
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 |
|
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'- GTTGAGGTCAGCAAAATTGTGG -3'
(R):5'- TGGTGCGAGCTGACTCTAAG -3'
Sequencing Primer
(F):5'- AAGGTCAATGCCCTGGTG -3'
(R):5'- GCTGACTCTAAGCTTCCGTGTG -3'
|
Posted On |
2016-06-15 |