Incidental Mutation 'R0100:Cpxm2'
| ID |
16984 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpxm2
|
| Ensembl Gene |
ENSMUSG00000030862 |
| Gene Name |
carboxypeptidase X 2 (M14 family) |
| Synonyms |
4632435C11Rik |
| MMRRC Submission |
038386-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R0100 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
132032687-132154739 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 132054871 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 554
(H554L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033149
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033149]
[ENSMUST00000124096]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033149
AA Change: H554L
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000033149
Gene: ENSMUSG00000030862
AA Change: H554L
| 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 |
noncoding transcript
Transcript: ENSMUST00000122681
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000127039
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150405
|
| Meta Mutation Damage Score |
0.1607 |
| Coding Region Coverage |
- 1x: 90.3%
- 3x: 88.1%
- 10x: 82.7%
- 20x: 75.2%
|
| Validation Efficiency |
89% (68/76) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrn |
A |
G |
4: 156,174,958 (GRCm38) |
C814R |
probably damaging |
Het |
| Aoc1 |
T |
C |
6: 48,908,604 (GRCm38) |
I681T |
possibly damaging |
Het |
| Atp13a4 |
T |
C |
16: 29,421,724 (GRCm38) |
H793R |
probably damaging |
Het |
| Atp6v0a4 |
T |
C |
6: 38,076,815 (GRCm38) |
I351V |
probably benign |
Het |
| Bbof1 |
T |
A |
12: 84,411,055 (GRCm38) |
D31E |
probably benign |
Het |
| Ddx55 |
C |
T |
5: 124,556,782 (GRCm38) |
T91I |
probably damaging |
Het |
| Dhx57 |
T |
C |
17: 80,275,156 (GRCm38) |
D340G |
possibly damaging |
Het |
| Dnah1 |
C |
T |
14: 31,262,152 (GRCm38) |
|
probably null |
Het |
| Dpp9 |
C |
T |
17: 56,205,854 (GRCm38) |
G118D |
possibly damaging |
Het |
| Etl4 |
T |
C |
2: 20,339,905 (GRCm38) |
S4P |
probably benign |
Het |
| Fat4 |
A |
C |
3: 38,980,248 (GRCm38) |
N2683T |
probably damaging |
Het |
| Gabrb2 |
A |
G |
11: 42,487,314 (GRCm38) |
D119G |
probably damaging |
Het |
| Garre1 |
A |
G |
7: 34,254,011 (GRCm38) |
I442T |
possibly damaging |
Het |
| Greb1 |
T |
A |
12: 16,680,224 (GRCm38) |
Q1734L |
probably benign |
Het |
| Gtf2ird2 |
T |
C |
5: 134,217,015 (GRCm38) |
L705P |
probably damaging |
Het |
| H13 |
T |
A |
2: 152,689,863 (GRCm38) |
|
probably null |
Het |
| Hgs |
T |
G |
11: 120,482,852 (GRCm38) |
Y708D |
possibly damaging |
Het |
| Hip1 |
T |
C |
5: 135,436,453 (GRCm38) |
D367G |
probably benign |
Het |
| Ift140 |
C |
T |
17: 25,090,954 (GRCm38) |
Q1112* |
probably null |
Het |
| Il17b |
A |
G |
18: 61,690,271 (GRCm38) |
M59V |
probably benign |
Het |
| Lpin3 |
T |
C |
2: 160,905,340 (GRCm38) |
Y829H |
probably damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,745,796 (GRCm38) |
N1230I |
probably damaging |
Het |
| Mindy2 |
C |
A |
9: 70,607,449 (GRCm38) |
|
probably benign |
Het |
| Nup210 |
T |
G |
6: 91,069,193 (GRCm38) |
E586A |
probably benign |
Het |
| Or1j17 |
A |
T |
2: 36,688,911 (GRCm38) |
N303I |
probably benign |
Het |
| Or2bd2 |
C |
T |
7: 6,440,400 (GRCm38) |
R167C |
probably damaging |
Het |
| Or5be3 |
T |
C |
2: 87,033,595 (GRCm38) |
T209A |
probably benign |
Het |
| Osgepl1 |
A |
G |
1: 53,323,213 (GRCm38) |
I405V |
probably damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,102,666 (GRCm38) |
S360P |
probably benign |
Het |
| Plekha6 |
T |
C |
1: 133,270,177 (GRCm38) |
S271P |
probably damaging |
Het |
| Plekhs1 |
A |
G |
19: 56,478,502 (GRCm38) |
E255G |
probably damaging |
Het |
| Pram1 |
T |
A |
17: 33,641,399 (GRCm38) |
N313K |
possibly damaging |
Het |
| Rapgef5 |
C |
T |
12: 117,721,299 (GRCm38) |
S261L |
probably benign |
Het |
| Spint5 |
T |
A |
2: 164,717,000 (GRCm38) |
C49S |
probably damaging |
Het |
| Tex22 |
T |
A |
12: 113,088,772 (GRCm38) |
I150N |
probably benign |
Het |
| Thoc6 |
A |
T |
17: 23,669,850 (GRCm38) |
W195R |
probably damaging |
Het |
| Tmem106a |
T |
C |
11: 101,586,258 (GRCm38) |
S98P |
probably benign |
Het |
| Tnfrsf18 |
A |
G |
4: 156,028,366 (GRCm38) |
T170A |
probably benign |
Het |
| Tor1aip1 |
A |
T |
1: 156,007,075 (GRCm38) |
D342E |
probably damaging |
Het |
| Trav7-6 |
T |
C |
14: 53,717,072 (GRCm38) |
S20P |
probably damaging |
Het |
| Trpc6 |
C |
T |
9: 8,653,034 (GRCm38) |
P614S |
probably damaging |
Het |
| Washc5 |
A |
G |
15: 59,344,098 (GRCm38) |
F811L |
possibly damaging |
Het |
|
| Other mutations in Cpxm2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01862:Cpxm2
|
APN |
7 |
132,059,811 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02039:Cpxm2
|
APN |
7 |
132,047,753 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03011:Cpxm2
|
APN |
7 |
132,049,078 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R0033:Cpxm2
|
UTSW |
7 |
132,062,157 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R0100:Cpxm2
|
UTSW |
7 |
132,054,871 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R0453:Cpxm2
|
UTSW |
7 |
132,128,405 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0555:Cpxm2
|
UTSW |
7 |
132,044,043 (GRCm38) |
nonsense |
probably null |
|
|
R0655:Cpxm2
|
UTSW |
7 |
132,054,820 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R0834:Cpxm2
|
UTSW |
7 |
132,154,613 (GRCm38) |
intron |
probably benign |
|
|
R1145:Cpxm2
|
UTSW |
7 |
132,057,648 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1145:Cpxm2
|
UTSW |
7 |
132,057,648 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1249:Cpxm2
|
UTSW |
7 |
132,128,350 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1563:Cpxm2
|
UTSW |
7 |
132,143,682 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1565:Cpxm2
|
UTSW |
7 |
132,062,145 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1709:Cpxm2
|
UTSW |
7 |
132,059,834 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1863:Cpxm2
|
UTSW |
7 |
132,143,663 (GRCm38) |
splice site |
probably null |
|
|
R1874:Cpxm2
|
UTSW |
7 |
132,059,834 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1958:Cpxm2
|
UTSW |
7 |
132,062,147 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2273:Cpxm2
|
UTSW |
7 |
132,059,852 (GRCm38) |
intron |
probably benign |
|
|
R3806:Cpxm2
|
UTSW |
7 |
132,080,091 (GRCm38) |
missense |
probably benign |
0.12 |
|
R3861:Cpxm2
|
UTSW |
7 |
132,054,919 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4570:Cpxm2
|
UTSW |
7 |
132,143,706 (GRCm38) |
missense |
probably benign |
0.11 |
|
R4642:Cpxm2
|
UTSW |
7 |
132,070,881 (GRCm38) |
missense |
probably benign |
0.11 |
|
R4684:Cpxm2
|
UTSW |
7 |
132,049,038 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R4717:Cpxm2
|
UTSW |
7 |
132,054,845 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R4863:Cpxm2
|
UTSW |
7 |
132,059,747 (GRCm38) |
missense |
probably benign |
0.13 |
|
R5079:Cpxm2
|
UTSW |
7 |
132,154,285 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5341:Cpxm2
|
UTSW |
7 |
132,154,613 (GRCm38) |
intron |
probably benign |
|
|
R5626:Cpxm2
|
UTSW |
7 |
132,059,852 (GRCm38) |
intron |
probably benign |
|
|
R5666:Cpxm2
|
UTSW |
7 |
132,054,896 (GRCm38) |
missense |
probably benign |
0.44 |
|
R5815:Cpxm2
|
UTSW |
7 |
132,044,110 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6114:Cpxm2
|
UTSW |
7 |
132,154,306 (GRCm38) |
missense |
probably benign |
|
|
R6133:Cpxm2
|
UTSW |
7 |
132,128,453 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6224:Cpxm2
|
UTSW |
7 |
132,143,731 (GRCm38) |
missense |
probably benign |
|
|
R6468:Cpxm2
|
UTSW |
7 |
132,070,860 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6657:Cpxm2
|
UTSW |
7 |
132,049,077 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7058:Cpxm2
|
UTSW |
7 |
132,143,679 (GRCm38) |
missense |
probably benign |
0.32 |
|
R7100:Cpxm2
|
UTSW |
7 |
132,054,815 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7198:Cpxm2
|
UTSW |
7 |
132,080,084 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7712:Cpxm2
|
UTSW |
7 |
132,154,378 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R7855:Cpxm2
|
UTSW |
7 |
132,057,695 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R7867:Cpxm2
|
UTSW |
7 |
132,049,071 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8513:Cpxm2
|
UTSW |
7 |
132,143,702 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8694:Cpxm2
|
UTSW |
7 |
132,080,054 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8874:Cpxm2
|
UTSW |
7 |
132,106,281 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8967:Cpxm2
|
UTSW |
7 |
132,059,835 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9680:Cpxm2
|
UTSW |
7 |
132,059,922 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9759:Cpxm2
|
UTSW |
7 |
132,154,513 (GRCm38) |
missense |
probably benign |
0.03 |
|
RF014:Cpxm2
|
UTSW |
7 |
132,070,863 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
Z1177:Cpxm2
|
UTSW |
7 |
132,055,001 (GRCm38) |
missense |
probably benign |
0.01 |
|
| Posted On |
2013-01-20 |
Incidental Mutation