Incidental Mutation 'R4642:Cpxm2'
ID |
351683 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpxm2
|
Ensembl Gene |
ENSMUSG00000030862 |
Gene Name |
carboxypeptidase X, M14 family member 2 |
Synonyms |
4632435C11Rik |
MMRRC Submission |
041904-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R4642 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
131634416-131756468 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 131672610 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 313
(R313H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033149
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033149]
[ENSMUST00000124096]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033149
AA Change: R313H
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000033149 Gene: ENSMUSG00000030862 AA Change: R313H
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 |
noncoding transcript
Transcript: ENSMUST00000127039
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
96% (46/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abce1 |
T |
C |
8: 80,415,982 (GRCm39) |
T387A |
probably damaging |
Het |
Acaca |
A |
T |
11: 84,171,287 (GRCm39) |
T3S |
probably damaging |
Het |
Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
Cacna1g |
A |
G |
11: 94,308,920 (GRCm39) |
I1631T |
probably damaging |
Het |
Camk1g |
T |
A |
1: 193,038,667 (GRCm39) |
D85V |
probably damaging |
Het |
Caskin1 |
G |
A |
17: 24,725,602 (GRCm39) |
S1296N |
probably benign |
Het |
Ccbe1 |
A |
T |
18: 66,424,654 (GRCm39) |
|
probably benign |
Het |
Ccdc184 |
T |
G |
15: 98,066,537 (GRCm39) |
V114G |
probably benign |
Het |
Crebrf |
G |
T |
17: 26,962,035 (GRCm39) |
E377D |
probably benign |
Het |
Dcstamp |
T |
C |
15: 39,618,118 (GRCm39) |
F176L |
probably benign |
Het |
Dnah2 |
T |
C |
11: 69,387,385 (GRCm39) |
D947G |
probably benign |
Het |
Erbb4 |
A |
G |
1: 68,289,791 (GRCm39) |
I750T |
probably damaging |
Het |
Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
Gm16391 |
T |
G |
17: 76,591,826 (GRCm39) |
|
noncoding transcript |
Het |
Gm973 |
A |
T |
1: 59,597,273 (GRCm39) |
E434D |
probably damaging |
Het |
Hdac7 |
T |
C |
15: 97,704,397 (GRCm39) |
E491G |
probably damaging |
Het |
Hyal5 |
A |
G |
6: 24,876,621 (GRCm39) |
N165D |
probably benign |
Het |
Ly86 |
A |
T |
13: 37,560,877 (GRCm39) |
R79S |
possibly damaging |
Het |
Mapk7 |
A |
G |
11: 61,381,727 (GRCm39) |
I13T |
probably damaging |
Het |
Medag |
T |
A |
5: 149,335,444 (GRCm39) |
M1K |
probably null |
Het |
Myh9 |
T |
C |
15: 77,646,151 (GRCm39) |
D1944G |
probably benign |
Het |
Nadk2 |
T |
C |
15: 9,092,810 (GRCm39) |
W206R |
possibly damaging |
Het |
Or7g18 |
T |
A |
9: 18,787,463 (GRCm39) |
M280K |
probably damaging |
Het |
Pcdhb11 |
T |
A |
18: 37,555,021 (GRCm39) |
F117Y |
probably benign |
Het |
Pdzd8 |
C |
T |
19: 59,293,662 (GRCm39) |
E396K |
probably damaging |
Het |
Piezo1 |
T |
A |
8: 123,222,193 (GRCm39) |
Y541F |
probably damaging |
Het |
Polr3h |
T |
C |
15: 81,806,667 (GRCm39) |
I51V |
probably benign |
Het |
Prune2 |
T |
C |
19: 16,998,019 (GRCm39) |
|
probably null |
Het |
Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
Rars2 |
T |
G |
4: 34,656,229 (GRCm39) |
V461G |
probably damaging |
Het |
Rasgrp3 |
T |
C |
17: 75,805,443 (GRCm39) |
C145R |
possibly damaging |
Het |
Ryr1 |
T |
C |
7: 28,785,463 (GRCm39) |
T1743A |
possibly damaging |
Het |
Sac3d1 |
G |
A |
19: 6,166,434 (GRCm39) |
A325V |
possibly damaging |
Het |
Shank1 |
A |
T |
7: 43,962,565 (GRCm39) |
D93V |
unknown |
Het |
Smg1 |
T |
C |
7: 117,753,487 (GRCm39) |
|
probably benign |
Het |
Tbl1xr1 |
A |
T |
3: 22,242,584 (GRCm39) |
N38I |
probably damaging |
Het |
Ufc1 |
A |
G |
1: 171,117,467 (GRCm39) |
I82T |
probably benign |
Het |
Uggt2 |
A |
T |
14: 119,272,347 (GRCm39) |
M434K |
probably benign |
Het |
Unc80 |
G |
A |
1: 66,710,873 (GRCm39) |
|
probably null |
Het |
Zan |
T |
A |
5: 137,462,450 (GRCm39) |
T910S |
unknown |
Het |
Zfp64 |
A |
G |
2: 168,776,851 (GRCm39) |
C256R |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGGACTAAAGACTTCAATGCC -3'
(R):5'- CATGCTTCCTGGTGACTTGG -3'
Sequencing Primer
(F):5'- TCAGCCATTTCCTAGCAGAG -3'
(R):5'- GGTGACTTGGCTCCCTTGC -3'
|
Posted On |
2015-10-08 |