Incidental Mutation 'R1334:Cpxm1'
| ID |
156801 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpxm1
|
| Ensembl Gene |
ENSMUSG00000027408 |
| Gene Name |
carboxypeptidase X, M14 family member 1 |
| Synonyms |
Cpx-1 |
| MMRRC Submission |
039399-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.462)
|
| Stock # |
R1334 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
130232695-130239494 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 130235483 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 503
(P503L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028897
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028897]
|
| AlphaFold |
Q9Z100 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028897
AA Change: P503L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000028897
Gene: ENSMUSG00000027408
AA Change: P503L
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.9%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Bnc2 |
T |
C |
4: 84,194,526 (GRCm39) |
E933G |
possibly damaging |
Het |
| Ccdc69 |
A |
T |
11: 54,943,805 (GRCm39) |
H75Q |
probably damaging |
Het |
| Ccdc81 |
C |
T |
7: 89,515,769 (GRCm39) |
E637K |
probably benign |
Het |
| Cpa3 |
T |
C |
3: 20,276,387 (GRCm39) |
E282G |
probably damaging |
Het |
| Dnaaf9 |
C |
T |
2: 130,617,642 (GRCm39) |
|
probably null |
Het |
| Dnah7b |
T |
C |
1: 46,361,495 (GRCm39) |
F3465S |
probably damaging |
Het |
| Dnaja3 |
T |
C |
16: 4,517,658 (GRCm39) |
S297P |
probably damaging |
Het |
| Enpp4 |
C |
A |
17: 44,413,259 (GRCm39) |
V92L |
probably benign |
Het |
| Fndc3b |
A |
T |
3: 27,513,000 (GRCm39) |
Y709N |
probably damaging |
Het |
| H2-Eb2 |
T |
G |
17: 34,553,324 (GRCm39) |
V170G |
probably damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,462,219 (GRCm39) |
G5153D |
possibly damaging |
Het |
| Ldah |
T |
C |
12: 8,334,089 (GRCm39) |
|
probably null |
Het |
| Micu1 |
T |
C |
10: 59,624,798 (GRCm39) |
L280P |
probably damaging |
Het |
| Mon1a |
A |
C |
9: 107,778,562 (GRCm39) |
N262T |
probably damaging |
Het |
| Nim1k |
A |
G |
13: 120,174,024 (GRCm39) |
I290T |
probably benign |
Het |
| Or1q1 |
A |
T |
2: 36,886,872 (GRCm39) |
I17F |
probably benign |
Het |
| Or2a57 |
A |
G |
6: 43,212,899 (GRCm39) |
Y119C |
probably benign |
Het |
| Or5aq6 |
T |
C |
2: 86,923,571 (GRCm39) |
T57A |
probably damaging |
Het |
| Pcdhb12 |
C |
T |
18: 37,569,724 (GRCm39) |
T290I |
probably damaging |
Het |
| Pkhd1 |
T |
G |
1: 20,604,129 (GRCm39) |
D1187A |
possibly damaging |
Het |
| Primpol |
T |
C |
8: 47,039,426 (GRCm39) |
Y398C |
probably damaging |
Het |
| Prob1 |
T |
C |
18: 35,786,305 (GRCm39) |
T650A |
possibly damaging |
Het |
| Rasl12 |
G |
A |
9: 65,318,151 (GRCm39) |
V172M |
probably damaging |
Het |
| Rgs5 |
G |
A |
1: 169,510,386 (GRCm39) |
|
probably null |
Het |
| St14 |
T |
C |
9: 31,019,506 (GRCm39) |
Y105C |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,575,387 (GRCm39) |
T16842A |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,643,316 (GRCm39) |
E13201G |
probably damaging |
Het |
| Vwa5a |
C |
A |
9: 38,646,037 (GRCm39) |
N468K |
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 |
|
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 |
|
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'- ACATACTCCCAGGAACTGTGTGCC -3'
(R):5'- TACATTGCCCAATGCCACCGTGAG -3'
Sequencing Primer
(F):5'- AGGAACTGTGTGCCAGTCG -3'
(R):5'- GTCACTGGTAGAAGGCCAC -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation