Incidental Mutation 'R6133:Cpxm2'
ID |
487235 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpxm2
|
Ensembl Gene |
ENSMUSG00000030862 |
Gene Name |
carboxypeptidase X, M14 family member 2 |
Synonyms |
4632435C11Rik |
MMRRC Submission |
044280-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R6133 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
131634416-131756468 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 131730182 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 146
(P146S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033149
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033149]
[ENSMUST00000124096]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000033149
AA Change: P146S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000033149 Gene: ENSMUSG00000030862 AA Change: P146S
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136188
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
Validation Efficiency |
100% (47/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy7 |
A |
G |
8: 89,052,067 (GRCm39) |
T912A |
possibly damaging |
Het |
Akap12 |
G |
T |
10: 4,305,178 (GRCm39) |
G663C |
probably benign |
Het |
Ankhd1 |
T |
C |
18: 36,758,179 (GRCm39) |
S958P |
possibly damaging |
Het |
Cmtm2a |
T |
C |
8: 105,019,362 (GRCm39) |
I76V |
probably benign |
Het |
Cubn |
A |
G |
2: 13,313,429 (GRCm39) |
V3047A |
probably benign |
Het |
Dgkd |
T |
A |
1: 87,865,962 (GRCm39) |
V198E |
possibly damaging |
Het |
Dnah3 |
A |
T |
7: 119,685,469 (GRCm39) |
M181K |
probably benign |
Het |
Dnah7a |
T |
C |
1: 53,458,814 (GRCm39) |
T3775A |
probably benign |
Het |
Dsg2 |
A |
G |
18: 20,723,146 (GRCm39) |
I391V |
probably benign |
Het |
Ebi3 |
T |
A |
17: 56,261,311 (GRCm39) |
V69E |
probably benign |
Het |
Fn1 |
T |
C |
1: 71,636,886 (GRCm39) |
T1998A |
probably damaging |
Het |
Frmpd1 |
T |
A |
4: 45,284,915 (GRCm39) |
H1245Q |
probably benign |
Het |
Gm7145 |
T |
A |
1: 117,913,618 (GRCm39) |
C167S |
probably damaging |
Het |
Hydin |
C |
T |
8: 111,327,908 (GRCm39) |
T4805I |
probably benign |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Kcnma1 |
C |
T |
14: 24,053,936 (GRCm39) |
M21I |
probably damaging |
Het |
Lrfn5 |
A |
G |
12: 61,890,574 (GRCm39) |
D621G |
probably benign |
Het |
Lrrc15 |
C |
T |
16: 30,093,054 (GRCm39) |
G95D |
probably benign |
Het |
Mex3d |
A |
G |
10: 80,222,620 (GRCm39) |
L212P |
probably damaging |
Het |
Mmel1 |
C |
T |
4: 154,979,475 (GRCm39) |
H728Y |
probably damaging |
Het |
Naip1 |
A |
G |
13: 100,581,151 (GRCm39) |
V32A |
probably benign |
Het |
Nsl1 |
T |
C |
1: 190,803,403 (GRCm39) |
L158P |
probably damaging |
Het |
Or51q1c |
A |
T |
7: 103,652,532 (GRCm39) |
T17S |
possibly damaging |
Het |
Or6c202 |
G |
A |
10: 128,996,752 (GRCm39) |
L34F |
possibly damaging |
Het |
Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
Pakap |
C |
T |
4: 57,855,516 (GRCm39) |
Q525* |
probably null |
Het |
Pcdh15 |
A |
T |
10: 74,481,805 (GRCm39) |
|
probably null |
Het |
Pramel15 |
T |
C |
4: 144,104,347 (GRCm39) |
R53G |
possibly damaging |
Het |
Ptpn1 |
T |
C |
2: 167,809,716 (GRCm39) |
V108A |
possibly damaging |
Het |
Rad9b |
T |
C |
5: 122,477,831 (GRCm39) |
N182D |
possibly damaging |
Het |
Rp1l1 |
C |
T |
14: 64,267,545 (GRCm39) |
P1044S |
probably damaging |
Het |
Scn2a |
G |
A |
2: 65,573,448 (GRCm39) |
V1433I |
probably benign |
Het |
Ssrp1 |
T |
G |
2: 84,875,683 (GRCm39) |
|
probably benign |
Het |
Suco |
T |
A |
1: 161,662,752 (GRCm39) |
K560* |
probably null |
Het |
Tbx3 |
T |
C |
5: 119,819,018 (GRCm39) |
V531A |
probably benign |
Het |
Tmem30c |
T |
C |
16: 57,098,100 (GRCm39) |
Y107C |
probably damaging |
Het |
Topbp1 |
T |
A |
9: 103,188,963 (GRCm39) |
|
probably null |
Het |
Trpm5 |
A |
T |
7: 142,642,688 (GRCm39) |
D86E |
probably damaging |
Het |
Urb2 |
C |
T |
8: 124,755,300 (GRCm39) |
Q336* |
probably null |
Het |
Vmn2r43 |
A |
G |
7: 8,247,970 (GRCm39) |
F731S |
probably damaging |
Het |
Xkr9 |
A |
G |
1: 13,754,359 (GRCm39) |
T118A |
probably benign |
Het |
Zcchc2 |
A |
C |
1: 105,947,609 (GRCm39) |
K117N |
probably damaging |
Het |
Zfp52 |
T |
C |
17: 21,780,733 (GRCm39) |
Y194H |
probably damaging |
Het |
Zfp763 |
C |
T |
17: 33,237,675 (GRCm39) |
C490Y |
possibly damaging |
Het |
Zmynd19 |
G |
T |
2: 24,848,131 (GRCm39) |
R148L |
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 |
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 |
|
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'- TCGAGGACTAGCTAACACCCTG -3'
(R):5'- CATTCACGGTTGCACTGATC -3'
Sequencing Primer
(F):5'- GCACAGGCCATGCACTC -3'
(R):5'- ACGGTTGCACTGATCTAATCTG -3'
|
Posted On |
2017-10-10 |