Incidental Mutation 'R7712:Cpxm2'
| ID |
594684 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpxm2
|
| Ensembl Gene |
ENSMUSG00000030862 |
| Gene Name |
carboxypeptidase X, M14 family member 2 |
| Synonyms |
4632435C11Rik |
| MMRRC Submission |
045770-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R7712 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
131634416-131756468 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 131756107 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 79
(P79Q)
|
| 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: P79Q
PolyPhen 2
Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000033149
Gene: ENSMUSG00000030862
AA Change: P79Q
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
C |
5: 114,303,799 (GRCm39) |
D74A |
probably benign |
Het |
| Alox15 |
T |
C |
11: 70,241,079 (GRCm39) |
|
probably null |
Het |
| Ano5 |
A |
G |
7: 51,222,805 (GRCm39) |
T455A |
probably benign |
Het |
| Ano5 |
T |
G |
7: 51,240,403 (GRCm39) |
I827S |
probably damaging |
Het |
| Arid1a |
G |
A |
4: 133,479,922 (GRCm39) |
A334V |
probably benign |
Het |
| Atp13a4 |
A |
G |
16: 29,278,305 (GRCm39) |
C298R |
|
Het |
| Atp4a |
T |
A |
7: 30,414,978 (GRCm39) |
S256T |
probably damaging |
Het |
| Atp6v1c1 |
G |
A |
15: 38,687,049 (GRCm39) |
V215I |
probably benign |
Het |
| Bbs9 |
T |
A |
9: 22,582,109 (GRCm39) |
F600L |
probably benign |
Het |
| Bmp8b |
A |
T |
4: 123,018,257 (GRCm39) |
Y376F |
possibly damaging |
Het |
| Cacna2d1 |
A |
T |
5: 16,567,347 (GRCm39) |
D986V |
probably damaging |
Het |
| Ccdc162 |
A |
G |
10: 41,503,223 (GRCm39) |
F973S |
possibly damaging |
Het |
| Ccdc177 |
G |
A |
12: 80,804,712 (GRCm39) |
Q521* |
probably null |
Het |
| Cd209b |
T |
A |
8: 3,973,299 (GRCm39) |
E158D |
possibly damaging |
Het |
| Cdk14 |
G |
A |
5: 5,430,061 (GRCm39) |
T22I |
possibly damaging |
Het |
| Chl1 |
A |
T |
6: 103,688,063 (GRCm39) |
I968F |
possibly damaging |
Het |
| Cnot7 |
T |
C |
8: 40,947,122 (GRCm39) |
Y255C |
probably damaging |
Het |
| Col4a2 |
T |
A |
8: 11,475,376 (GRCm39) |
L600H |
probably benign |
Het |
| Cpne7 |
C |
A |
8: 123,850,920 (GRCm39) |
L129M |
probably damaging |
Het |
| Dhx9 |
T |
A |
1: 153,340,747 (GRCm39) |
N631I |
probably benign |
Het |
| Dmxl1 |
T |
C |
18: 50,026,528 (GRCm39) |
S1879P |
probably damaging |
Het |
| Dnhd1 |
T |
A |
7: 105,300,831 (GRCm39) |
F63I |
probably benign |
Het |
| Dok7 |
A |
G |
5: 35,223,866 (GRCm39) |
N98S |
probably damaging |
Het |
| Fgd2 |
A |
G |
17: 29,595,886 (GRCm39) |
T515A |
probably benign |
Het |
| Fmo1 |
T |
C |
1: 162,663,704 (GRCm39) |
D275G |
probably benign |
Het |
| Gm5796 |
A |
G |
14: 15,379,960 (GRCm39) |
Y90C |
probably damaging |
Het |
| H60b |
C |
A |
10: 22,161,637 (GRCm39) |
H42N |
possibly damaging |
Het |
| Hipk2 |
A |
G |
6: 38,680,569 (GRCm39) |
S924P |
probably benign |
Het |
| Hpf1 |
C |
A |
8: 61,358,613 (GRCm39) |
S27* |
probably null |
Het |
| Idua |
T |
G |
5: 108,829,388 (GRCm39) |
D443E |
probably benign |
Het |
| Lamc2 |
C |
T |
1: 153,009,357 (GRCm39) |
G816D |
possibly damaging |
Het |
| Lgi3 |
T |
A |
14: 70,768,551 (GRCm39) |
V16E |
unknown |
Het |
| Lpar1 |
T |
A |
4: 58,486,795 (GRCm39) |
M159L |
probably benign |
Het |
| Magi2 |
A |
G |
5: 20,755,280 (GRCm39) |
D618G |
possibly damaging |
Het |
| Man2b2 |
C |
G |
5: 36,967,658 (GRCm39) |
Q903H |
probably benign |
Het |
| Marchf7 |
A |
T |
2: 60,065,334 (GRCm39) |
K537* |
probably null |
Het |
| Mcoln1 |
T |
C |
8: 3,555,873 (GRCm39) |
F56S |
probably damaging |
Het |
| Myh7 |
C |
G |
14: 55,226,258 (GRCm39) |
D461H |
probably damaging |
Het |
| Myo1b |
A |
T |
1: 51,832,836 (GRCm39) |
M383K |
probably damaging |
Het |
| Or12k7 |
A |
T |
2: 36,958,916 (GRCm39) |
T200S |
probably damaging |
Het |
| Or1f19 |
T |
C |
16: 3,410,295 (GRCm39) |
F12L |
probably damaging |
Het |
| Or8a1b |
T |
C |
9: 37,623,429 (GRCm39) |
I49V |
probably damaging |
Het |
| Pars2 |
T |
A |
4: 106,511,276 (GRCm39) |
Y353N |
probably damaging |
Het |
| Pcdha8 |
A |
C |
18: 37,125,737 (GRCm39) |
D73A |
possibly damaging |
Het |
| Pcdhga8 |
C |
T |
18: 37,860,102 (GRCm39) |
T386M |
possibly damaging |
Het |
| Pdzd2 |
G |
T |
15: 12,407,422 (GRCm39) |
T346N |
probably damaging |
Het |
| Pik3c2b |
A |
G |
1: 133,013,349 (GRCm39) |
Q781R |
probably damaging |
Het |
| Pp2d1 |
T |
A |
17: 53,815,318 (GRCm39) |
T469S |
possibly damaging |
Het |
| Sectm1a |
G |
A |
11: 120,959,631 (GRCm39) |
L166F |
probably damaging |
Het |
| Sgms1 |
T |
A |
19: 32,120,169 (GRCm39) |
M246L |
probably benign |
Het |
| Shroom3 |
G |
A |
5: 93,098,806 (GRCm39) |
G1429S |
probably benign |
Het |
| Snx17 |
T |
A |
5: 31,352,804 (GRCm39) |
F101Y |
probably damaging |
Het |
| Sowahb |
C |
T |
5: 93,191,240 (GRCm39) |
S493N |
probably benign |
Het |
| Spc25 |
T |
A |
2: 69,036,481 (GRCm39) |
R7S |
unknown |
Het |
| Sult2b1 |
A |
G |
7: 45,379,620 (GRCm39) |
I308T |
probably benign |
Het |
| Tkt |
A |
G |
14: 30,280,763 (GRCm39) |
N65D |
probably benign |
Het |
| Ttc5 |
A |
T |
14: 51,010,769 (GRCm39) |
S221T |
probably benign |
Het |
| Ubr5 |
G |
A |
15: 37,980,076 (GRCm39) |
A2434V |
probably null |
Het |
| Wipf1 |
A |
C |
2: 73,274,805 (GRCm39) |
S55R |
probably damaging |
Het |
| Zdbf2 |
T |
C |
1: 63,344,530 (GRCm39) |
S970P |
possibly damaging |
Het |
| Zfp354c |
TCACACTCGGCACA |
TCACA |
11: 50,706,067 (GRCm39) |
|
probably benign |
Het |
| Zfp362 |
A |
T |
4: 128,671,203 (GRCm39) |
H313Q |
probably benign |
Het |
| Zfy2 |
T |
A |
Y: 2,121,420 (GRCm39) |
I158F |
probably benign |
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 |
|
IGL02039:Cpxm2
|
APN |
7 |
131,649,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGCTCACTCAAGAAAACATACTG -3'
(R):5'- AGTCGTCATTTGTAGCCCG -3'
Sequencing Primer
(F):5'- TGGAAGCCAGGTGTCCC -3'
(R):5'- TGGCCCTGGCACTTGTG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation