Incidental Mutation 'R6657:Cpxm2'
ID |
526667 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpxm2
|
Ensembl Gene |
ENSMUSG00000030862 |
Gene Name |
carboxypeptidase X, M14 family member 2 |
Synonyms |
4632435C11Rik |
MMRRC Submission |
044778-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R6657 (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 131650806 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 618
(Y618C)
|
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: Y618C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000033149 Gene: ENSMUSG00000030862 AA Change: Y618C
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 |
unknown
Transcript: ENSMUST00000209155
AA Change: Y14C
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 94.0%
|
Validation Efficiency |
98% (48/49) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933405L10Rik |
T |
G |
8: 106,435,450 (GRCm39) |
L36R |
probably damaging |
Het |
Akr1b1 |
C |
T |
6: 34,286,939 (GRCm39) |
V206M |
possibly damaging |
Het |
Akr1b7 |
A |
C |
6: 34,393,135 (GRCm39) |
D106A |
probably damaging |
Het |
Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
Chst5 |
C |
T |
8: 112,616,906 (GRCm39) |
R238Q |
probably benign |
Het |
Csnk1d |
T |
C |
11: 120,855,820 (GRCm39) |
E405G |
possibly damaging |
Het |
Ctsh |
A |
T |
9: 89,942,555 (GRCm39) |
M37L |
probably benign |
Het |
Eml5 |
T |
G |
12: 98,757,664 (GRCm39) |
I1843L |
probably damaging |
Het |
Ep400 |
C |
A |
5: 110,841,411 (GRCm39) |
|
probably benign |
Het |
Fbln2 |
A |
G |
6: 91,236,732 (GRCm39) |
N749S |
possibly damaging |
Het |
Gpc5 |
A |
G |
14: 115,607,610 (GRCm39) |
H404R |
probably benign |
Het |
Hyal6 |
A |
G |
6: 24,734,757 (GRCm39) |
D230G |
possibly damaging |
Het |
Itga5 |
T |
C |
15: 103,259,222 (GRCm39) |
D735G |
probably damaging |
Het |
Kansl2 |
T |
A |
15: 98,422,551 (GRCm39) |
Q339L |
possibly damaging |
Het |
Lrp4 |
T |
A |
2: 91,322,398 (GRCm39) |
M1078K |
probably benign |
Het |
Mmp24 |
A |
T |
2: 155,640,099 (GRCm39) |
Y143F |
probably damaging |
Het |
Mroh7 |
A |
T |
4: 106,559,697 (GRCm39) |
C743* |
probably null |
Het |
Myh14 |
T |
C |
7: 44,287,270 (GRCm39) |
N618D |
probably damaging |
Het |
Myo19 |
A |
T |
11: 84,788,022 (GRCm39) |
M324L |
probably benign |
Het |
Nectin2 |
T |
C |
7: 19,472,065 (GRCm39) |
N108S |
probably benign |
Het |
Nrg2 |
A |
G |
18: 36,329,642 (GRCm39) |
I191T |
probably damaging |
Het |
Odf4 |
T |
C |
11: 68,817,638 (GRCm39) |
N18D |
probably benign |
Het |
Or5aq6 |
T |
A |
2: 86,923,403 (GRCm39) |
I113F |
probably benign |
Het |
Pcsk2 |
T |
G |
2: 143,532,286 (GRCm39) |
L145V |
probably damaging |
Het |
Pdzrn3 |
C |
A |
6: 101,127,983 (GRCm39) |
Q894H |
probably benign |
Het |
Pfpl |
G |
A |
19: 12,407,290 (GRCm39) |
V514I |
probably benign |
Het |
Plbd1 |
A |
T |
6: 136,594,250 (GRCm39) |
M333K |
probably damaging |
Het |
Plec |
A |
T |
15: 76,062,356 (GRCm39) |
M2554K |
possibly damaging |
Het |
Psmb5 |
A |
G |
14: 54,851,840 (GRCm39) |
Y115H |
possibly damaging |
Het |
Rictor |
A |
G |
15: 6,788,977 (GRCm39) |
N198D |
possibly damaging |
Het |
Rsrc2 |
A |
G |
5: 123,877,630 (GRCm39) |
|
probably benign |
Het |
Sec16a |
C |
T |
2: 26,315,876 (GRCm39) |
W262* |
probably null |
Het |
Sfmbt1 |
A |
G |
14: 30,488,053 (GRCm39) |
D8G |
possibly damaging |
Het |
Sptbn5 |
T |
G |
2: 119,906,881 (GRCm39) |
|
probably benign |
Het |
Sqor |
A |
G |
2: 122,649,514 (GRCm39) |
D139G |
possibly damaging |
Het |
Sugt1 |
A |
T |
14: 79,844,701 (GRCm39) |
T139S |
probably benign |
Het |
Tcp11 |
G |
A |
17: 28,290,646 (GRCm39) |
P159S |
probably damaging |
Het |
Tmem262 |
A |
G |
19: 6,130,542 (GRCm39) |
T89A |
possibly damaging |
Het |
Tnfaip6 |
C |
A |
2: 51,933,795 (GRCm39) |
T50N |
probably damaging |
Het |
Ttll9 |
T |
C |
2: 152,826,182 (GRCm39) |
Y131H |
probably damaging |
Het |
Vmn1r173 |
T |
A |
7: 23,402,320 (GRCm39) |
M185K |
probably damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Vmn2r52 |
G |
A |
7: 9,893,090 (GRCm39) |
T683I |
probably damaging |
Het |
Vps53 |
A |
T |
11: 76,025,253 (GRCm39) |
I197N |
probably damaging |
Het |
Washc4 |
T |
A |
10: 83,394,482 (GRCm39) |
F269L |
possibly damaging |
Het |
Wdfy4 |
C |
T |
14: 32,769,208 (GRCm39) |
V2086M |
possibly damaging |
Het |
Zfp592 |
A |
T |
7: 80,675,234 (GRCm39) |
T733S |
possibly damaging |
Het |
Zfp599 |
A |
G |
9: 22,161,538 (GRCm39) |
F209S |
probably 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 |
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'- ATAGGCTCCATCCGACTCTC -3'
(R):5'- GGTTATTAACGACGGCTTTCCAG -3'
Sequencing Primer
(F):5'- ACTCTCCCGTGGCTGTGATG -3'
(R):5'- GGCTTTCCAGGCGCATTTATTTC -3'
|
Posted On |
2018-07-23 |