Incidental Mutation 'IGL02039:Cpxm2'
| ID |
184622 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cpxm2
|
| Ensembl Gene |
ENSMUSG00000030862 |
| Gene Name |
carboxypeptidase X, M14 family member 2 |
| Synonyms |
4632435C11Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
IGL02039
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
131634416-131756468 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 131649482 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 64
(V64A)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033149]
[ENSMUST00000124096]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033149
AA Change: V668A
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000033149
Gene: ENSMUSG00000030862
AA Change: V668A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
82 |
N/A |
INTRINSIC |
|
low complexity region
|
87 |
98 |
N/A |
INTRINSIC |
|
FA58C
|
143 |
301 |
2.18e-46 |
SMART |
|
Zn_pept
|
448 |
736 |
9.21e-58 |
SMART |
|
low complexity region
|
751 |
764 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124096
|
| SMART Domains |
Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
1 |
118 |
4.8e-19 |
PFAM |
|
Pfam:Pkinase_Tyr
|
1 |
118 |
1.7e-50 |
PFAM |
|
low complexity region
|
146 |
160 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209155
AA Change: V64A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,247,193 (GRCm39) |
Y2313* |
probably null |
Het |
| Arhgef12 |
A |
G |
9: 42,883,563 (GRCm39) |
I1323T |
probably benign |
Het |
| C87436 |
A |
G |
6: 86,430,677 (GRCm39) |
M366V |
probably benign |
Het |
| Cep290 |
T |
C |
10: 100,350,464 (GRCm39) |
|
probably null |
Het |
| Cpsf3 |
T |
C |
12: 21,351,457 (GRCm39) |
M326T |
probably damaging |
Het |
| Csnka2ip |
G |
A |
16: 64,298,957 (GRCm39) |
S25F |
probably damaging |
Het |
| Cyfip1 |
T |
C |
7: 55,524,769 (GRCm39) |
F168L |
possibly damaging |
Het |
| Dhx8 |
T |
C |
11: 101,654,853 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
T |
A |
11: 69,390,038 (GRCm39) |
I736F |
probably damaging |
Het |
| Erf |
T |
C |
7: 24,943,969 (GRCm39) |
E454G |
possibly damaging |
Het |
| Flnc |
T |
C |
6: 29,450,718 (GRCm39) |
V1482A |
probably benign |
Het |
| Fmn1 |
T |
C |
2: 113,195,425 (GRCm39) |
L375P |
unknown |
Het |
| Foxm1 |
T |
C |
6: 128,346,323 (GRCm39) |
Y85H |
probably damaging |
Het |
| Frem3 |
A |
G |
8: 81,339,600 (GRCm39) |
E631G |
probably damaging |
Het |
| Fsip1 |
T |
C |
2: 118,070,895 (GRCm39) |
D265G |
probably damaging |
Het |
| Gprc5c |
C |
T |
11: 114,755,312 (GRCm39) |
Q330* |
probably null |
Het |
| Grin1 |
C |
T |
2: 25,195,354 (GRCm39) |
V246M |
probably damaging |
Het |
| Ifitm3 |
C |
A |
7: 140,590,563 (GRCm39) |
|
probably benign |
Het |
| Igdcc3 |
G |
A |
9: 65,091,162 (GRCm39) |
V648I |
probably benign |
Het |
| Ighv5-2 |
A |
G |
12: 113,542,214 (GRCm39) |
I87T |
probably benign |
Het |
| Imp4 |
G |
A |
1: 34,482,849 (GRCm39) |
|
probably null |
Het |
| Ino80 |
T |
C |
2: 119,210,554 (GRCm39) |
N1327D |
probably damaging |
Het |
| Kif5a |
T |
C |
10: 127,069,736 (GRCm39) |
I830V |
possibly damaging |
Het |
| Muc5b |
A |
G |
7: 141,424,901 (GRCm39) |
Y4696C |
possibly damaging |
Het |
| Nrl |
T |
C |
14: 55,759,567 (GRCm39) |
E120G |
probably benign |
Het |
| Nsmaf |
T |
A |
4: 6,424,995 (GRCm39) |
|
probably benign |
Het |
| Nup35 |
T |
C |
2: 80,473,119 (GRCm39) |
M64T |
probably benign |
Het |
| Nxpe2 |
T |
A |
9: 48,230,959 (GRCm39) |
N470I |
probably benign |
Het |
| Oga |
A |
T |
19: 45,762,142 (GRCm39) |
V237E |
probably damaging |
Het |
| Or12d17 |
T |
A |
17: 37,777,340 (GRCm39) |
I81N |
possibly damaging |
Het |
| Or9i1 |
C |
T |
19: 13,840,083 (GRCm39) |
Q309* |
probably null |
Het |
| Os9 |
G |
A |
10: 126,932,160 (GRCm39) |
P604S |
possibly damaging |
Het |
| Pitpnm1 |
A |
G |
19: 4,155,032 (GRCm39) |
T287A |
probably benign |
Het |
| Pkd2l2 |
G |
T |
18: 34,568,421 (GRCm39) |
|
probably null |
Het |
| Pola2 |
A |
T |
19: 5,998,497 (GRCm39) |
I355N |
probably damaging |
Het |
| Pp2d1 |
T |
A |
17: 53,823,022 (GRCm39) |
R15* |
probably null |
Het |
| Prpf40a |
T |
C |
2: 53,034,815 (GRCm39) |
D749G |
probably damaging |
Het |
| Rhoh |
T |
C |
5: 66,049,981 (GRCm39) |
S84P |
probably damaging |
Het |
| Slc12a7 |
T |
C |
13: 73,957,213 (GRCm39) |
|
probably null |
Het |
| Slc37a2 |
A |
G |
9: 37,144,980 (GRCm39) |
I454T |
probably damaging |
Het |
| Smarca2 |
A |
G |
19: 26,693,537 (GRCm39) |
D28G |
probably damaging |
Het |
| Socs4 |
T |
C |
14: 47,527,650 (GRCm39) |
I195T |
probably benign |
Het |
| Svep1 |
A |
G |
4: 58,123,980 (GRCm39) |
|
probably null |
Het |
| Thbd |
T |
C |
2: 148,248,462 (GRCm39) |
T469A |
probably benign |
Het |
| Thoc5 |
T |
C |
11: 4,872,027 (GRCm39) |
|
probably null |
Het |
| Vmn1r173 |
G |
T |
7: 23,402,321 (GRCm39) |
M185I |
probably benign |
Het |
| Vmn1r59 |
T |
C |
7: 5,457,380 (GRCm39) |
S127G |
probably benign |
Het |
| Vmn2r6 |
T |
C |
3: 64,463,610 (GRCm39) |
E408G |
probably damaging |
Het |
| Yars1 |
A |
T |
4: 129,109,052 (GRCm39) |
I428F |
probably damaging |
Het |
| Zglp1 |
T |
C |
9: 20,978,335 (GRCm39) |
E14G |
possibly damaging |
Het |
|
| Other mutations in Cpxm2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01862:Cpxm2
|
APN |
7 |
131,661,540 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03011:Cpxm2
|
APN |
7 |
131,650,807 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0033:Cpxm2
|
UTSW |
7 |
131,663,886 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R0100:Cpxm2
|
UTSW |
7 |
131,656,600 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0100:Cpxm2
|
UTSW |
7 |
131,656,600 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0453:Cpxm2
|
UTSW |
7 |
131,730,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0555:Cpxm2
|
UTSW |
7 |
131,645,772 (GRCm39) |
nonsense |
probably null |
|
|
R0655:Cpxm2
|
UTSW |
7 |
131,656,549 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0834:Cpxm2
|
UTSW |
7 |
131,756,342 (GRCm39) |
intron |
probably benign |
|
|
R1145:Cpxm2
|
UTSW |
7 |
131,659,377 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1145:Cpxm2
|
UTSW |
7 |
131,659,377 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1249:Cpxm2
|
UTSW |
7 |
131,730,079 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1563:Cpxm2
|
UTSW |
7 |
131,745,411 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1565:Cpxm2
|
UTSW |
7 |
131,663,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1709:Cpxm2
|
UTSW |
7 |
131,661,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1863:Cpxm2
|
UTSW |
7 |
131,745,392 (GRCm39) |
splice site |
probably null |
|
|
R1874:Cpxm2
|
UTSW |
7 |
131,661,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1958:Cpxm2
|
UTSW |
7 |
131,663,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2273:Cpxm2
|
UTSW |
7 |
131,661,581 (GRCm39) |
intron |
probably benign |
|
|
R3806:Cpxm2
|
UTSW |
7 |
131,681,820 (GRCm39) |
missense |
probably benign |
0.12 |
|
R3861:Cpxm2
|
UTSW |
7 |
131,656,648 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4570:Cpxm2
|
UTSW |
7 |
131,745,435 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4642:Cpxm2
|
UTSW |
7 |
131,672,610 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4684:Cpxm2
|
UTSW |
7 |
131,650,767 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4717:Cpxm2
|
UTSW |
7 |
131,656,574 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4863:Cpxm2
|
UTSW |
7 |
131,661,476 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5079:Cpxm2
|
UTSW |
7 |
131,756,014 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5341:Cpxm2
|
UTSW |
7 |
131,756,342 (GRCm39) |
intron |
probably benign |
|
|
R5626:Cpxm2
|
UTSW |
7 |
131,661,581 (GRCm39) |
intron |
probably benign |
|
|
R5666:Cpxm2
|
UTSW |
7 |
131,656,625 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5815:Cpxm2
|
UTSW |
7 |
131,645,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6114:Cpxm2
|
UTSW |
7 |
131,756,035 (GRCm39) |
missense |
probably benign |
|
|
R6133:Cpxm2
|
UTSW |
7 |
131,730,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6224:Cpxm2
|
UTSW |
7 |
131,745,460 (GRCm39) |
missense |
probably benign |
|
|
R6468:Cpxm2
|
UTSW |
7 |
131,672,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6657:Cpxm2
|
UTSW |
7 |
131,650,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7058:Cpxm2
|
UTSW |
7 |
131,745,408 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7100:Cpxm2
|
UTSW |
7 |
131,656,544 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7198:Cpxm2
|
UTSW |
7 |
131,681,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7712:Cpxm2
|
UTSW |
7 |
131,756,107 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7855:Cpxm2
|
UTSW |
7 |
131,659,424 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7867:Cpxm2
|
UTSW |
7 |
131,650,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8513:Cpxm2
|
UTSW |
7 |
131,745,431 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8694:Cpxm2
|
UTSW |
7 |
131,681,783 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8874:Cpxm2
|
UTSW |
7 |
131,708,010 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8967:Cpxm2
|
UTSW |
7 |
131,661,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9680:Cpxm2
|
UTSW |
7 |
131,661,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9759:Cpxm2
|
UTSW |
7 |
131,756,242 (GRCm39) |
missense |
probably benign |
0.03 |
|
RF014:Cpxm2
|
UTSW |
7 |
131,672,592 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Z1177:Cpxm2
|
UTSW |
7 |
131,656,730 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2014-05-07 |
Incidental Mutation