Incidental Mutation 'R8694:Cpxm2'
ID |
668568 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpxm2
|
Ensembl Gene |
ENSMUSG00000030862 |
Gene Name |
carboxypeptidase X, M14 family member 2 |
Synonyms |
4632435C11Rik |
MMRRC Submission |
068548-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R8694 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
131634416-131756468 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 131681783 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 249
(N249D)
|
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: N249D
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000033149 Gene: ENSMUSG00000030862 AA Change: N249D
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 |
|
Meta Mutation Damage Score |
0.1183 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
98% (51/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adar |
T |
C |
3: 89,642,950 (GRCm39) |
L277P |
probably damaging |
Het |
Adgrb3 |
C |
A |
1: 25,865,472 (GRCm39) |
D124Y |
probably damaging |
Het |
Afdn |
T |
C |
17: 14,108,641 (GRCm39) |
V1403A |
probably benign |
Het |
Afg3l1 |
T |
C |
8: 124,227,973 (GRCm39) |
V586A |
probably damaging |
Het |
Ajm1 |
A |
G |
2: 25,469,831 (GRCm39) |
S27P |
possibly damaging |
Het |
Aloxe3 |
A |
G |
11: 69,033,677 (GRCm39) |
D597G |
probably damaging |
Het |
Asb15 |
T |
C |
6: 24,570,666 (GRCm39) |
V548A |
probably benign |
Het |
Atp6v1a |
C |
T |
16: 43,921,991 (GRCm39) |
R388Q |
probably damaging |
Het |
Btbd8 |
A |
G |
5: 107,658,635 (GRCm39) |
D1735G |
probably benign |
Het |
C130074G19Rik |
G |
A |
1: 184,615,184 (GRCm39) |
T2M |
probably damaging |
Het |
Ccdc187 |
T |
C |
2: 26,165,505 (GRCm39) |
T884A |
probably benign |
Het |
Cdk5rap1 |
G |
A |
2: 154,195,148 (GRCm39) |
R356* |
probably null |
Het |
Cebpz |
A |
T |
17: 79,234,334 (GRCm39) |
H725Q |
probably damaging |
Het |
Celsr2 |
T |
C |
3: 108,314,176 (GRCm39) |
D1283G |
probably damaging |
Het |
Cldn11 |
G |
T |
3: 31,217,239 (GRCm39) |
V136F |
probably damaging |
Het |
Ctsz |
T |
C |
2: 174,280,072 (GRCm39) |
N67D |
probably benign |
Het |
Drd3 |
A |
C |
16: 43,643,075 (GRCm39) |
H405P |
probably damaging |
Het |
F2rl2 |
T |
C |
13: 95,837,339 (GRCm39) |
V128A |
probably benign |
Het |
Fh1 |
C |
T |
1: 175,448,126 (GRCm39) |
P43S |
probably benign |
Het |
Fndc7 |
C |
T |
3: 108,779,622 (GRCm39) |
W307* |
probably null |
Het |
Gmip |
G |
T |
8: 70,270,485 (GRCm39) |
V732L |
probably benign |
Het |
Heatr4 |
A |
G |
12: 84,027,038 (GRCm39) |
F73S |
probably damaging |
Het |
Iqcf4 |
T |
C |
9: 106,448,111 (GRCm39) |
|
probably benign |
Het |
Itln1 |
T |
A |
1: 171,359,279 (GRCm39) |
Q67L |
probably damaging |
Het |
Jak1 |
A |
G |
4: 101,013,704 (GRCm39) |
V1008A |
probably damaging |
Het |
Kcnh1 |
A |
T |
1: 191,921,031 (GRCm39) |
|
probably benign |
Het |
Kcnu1 |
T |
G |
8: 26,342,101 (GRCm39) |
|
probably benign |
Het |
Kif1b |
A |
G |
4: 149,305,024 (GRCm39) |
S967P |
probably damaging |
Het |
Klra17 |
A |
G |
6: 129,851,780 (GRCm39) |
S31P |
probably benign |
Het |
Kmt2d |
C |
T |
15: 98,742,615 (GRCm39) |
E4182K |
unknown |
Het |
Lama5 |
T |
C |
2: 179,822,677 (GRCm39) |
D2825G |
probably damaging |
Het |
Lmtk2 |
T |
C |
5: 144,108,566 (GRCm39) |
V336A |
probably damaging |
Het |
Mad1l1 |
A |
G |
5: 140,074,438 (GRCm39) |
I584T |
probably benign |
Het |
Magea1 |
T |
A |
X: 153,871,787 (GRCm39) |
N313I |
possibly damaging |
Het |
Mapt |
T |
C |
11: 104,189,440 (GRCm39) |
S153P |
probably benign |
Het |
Myo1e |
T |
C |
9: 70,291,172 (GRCm39) |
Y988H |
probably benign |
Het |
Ndufc2 |
A |
T |
7: 97,049,403 (GRCm39) |
N3I |
probably benign |
Het |
Nos2 |
T |
A |
11: 78,836,515 (GRCm39) |
V531D |
possibly damaging |
Het |
Npbwr1 |
T |
A |
1: 5,986,617 (GRCm39) |
Y299F |
probably damaging |
Het |
Or4a39 |
A |
G |
2: 89,237,378 (GRCm39) |
L15P |
probably damaging |
Het |
Or4a70 |
A |
G |
2: 89,324,171 (GRCm39) |
Y162H |
possibly damaging |
Het |
Or52n20 |
G |
T |
7: 104,320,296 (GRCm39) |
C129F |
probably damaging |
Het |
Or8h10 |
G |
A |
2: 86,808,591 (GRCm39) |
P183L |
probably damaging |
Het |
Pp2d1 |
T |
C |
17: 53,815,191 (GRCm39) |
Y511C |
probably benign |
Het |
Psmb4 |
T |
C |
3: 94,793,435 (GRCm39) |
N149D |
probably benign |
Het |
Setbp1 |
T |
C |
18: 78,901,516 (GRCm39) |
K717R |
probably damaging |
Het |
Slc25a11 |
T |
C |
11: 70,535,630 (GRCm39) |
M303V |
probably benign |
Het |
Spesp1 |
A |
T |
9: 62,180,242 (GRCm39) |
M222K |
probably benign |
Het |
Tmem132d |
A |
G |
5: 127,869,495 (GRCm39) |
M613T |
probably benign |
Het |
Ugt2a2 |
A |
G |
5: 87,612,029 (GRCm39) |
F294L |
probably damaging |
Het |
Usp34 |
A |
G |
11: 23,434,161 (GRCm39) |
T3246A |
|
Het |
Zfp750 |
T |
A |
11: 121,404,456 (GRCm39) |
I140F |
possibly damaging |
Het |
Zscan4e |
A |
T |
7: 11,041,574 (GRCm39) |
H127Q |
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 |
|
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 |
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'- AGACTACATCTCAAAAGTACTTCCG -3'
(R):5'- GAATCAGGACTTGAACCAGTCC -3'
Sequencing Primer
(F):5'- TGAGGTCTCAGAAGCTTAAGTCACC -3'
(R):5'- CTGGAGAAAACATACCCATCCTTATG -3'
|
Posted On |
2021-04-30 |