Incidental Mutation 'R5815:Cpxm2'
| ID |
448997 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpxm2
|
| Ensembl Gene |
ENSMUSG00000030862 |
| Gene Name |
carboxypeptidase X, M14 family member 2 |
| Synonyms |
4632435C11Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R5815 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
131634416-131756468 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 131645839 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 693
(G693V)
|
| 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: G693V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033149
Gene: ENSMUSG00000030862
AA Change: G693V
| 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 |
probably benign
Transcript: ENSMUST00000209155
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afmid |
A |
G |
11: 117,726,530 (GRCm39) |
D226G |
probably benign |
Het |
| Ago2 |
T |
C |
15: 72,979,215 (GRCm39) |
|
probably null |
Het |
| Aldh1a1 |
C |
A |
19: 20,608,034 (GRCm39) |
D285E |
probably benign |
Het |
| Alms1 |
T |
C |
6: 85,599,820 (GRCm39) |
S1549P |
probably damaging |
Het |
| Apmap |
T |
C |
2: 150,442,171 (GRCm39) |
S68G |
probably benign |
Het |
| Atp8a1 |
A |
T |
5: 67,906,414 (GRCm39) |
I500N |
probably benign |
Het |
| B3gnt7 |
A |
C |
1: 86,233,510 (GRCm39) |
D135A |
probably benign |
Het |
| Bms1 |
A |
T |
6: 118,381,240 (GRCm39) |
L692H |
probably damaging |
Het |
| Cdk17 |
T |
A |
10: 93,064,559 (GRCm39) |
V276E |
probably damaging |
Het |
| Cep290 |
A |
T |
10: 100,393,970 (GRCm39) |
E2059V |
possibly damaging |
Het |
| Crocc |
A |
T |
4: 140,762,507 (GRCm39) |
V661E |
probably damaging |
Het |
| D1Pas1 |
A |
T |
1: 186,700,206 (GRCm39) |
N45I |
probably damaging |
Het |
| Ddx19a |
C |
T |
8: 111,705,781 (GRCm39) |
W223* |
probably null |
Het |
| Ddx60 |
C |
A |
8: 62,416,756 (GRCm39) |
S567Y |
probably damaging |
Het |
| Dhx36 |
A |
T |
3: 62,401,176 (GRCm39) |
N363K |
probably damaging |
Het |
| Gm57859 |
C |
A |
11: 113,578,783 (GRCm39) |
|
probably null |
Het |
| Gpr151 |
G |
A |
18: 42,712,450 (GRCm39) |
T76M |
probably benign |
Het |
| Inhbc |
C |
T |
10: 127,193,318 (GRCm39) |
V233I |
probably benign |
Het |
| Ippk |
C |
T |
13: 49,599,839 (GRCm39) |
L233F |
probably damaging |
Het |
| Lama2 |
A |
G |
10: 26,862,847 (GRCm39) |
V2972A |
probably damaging |
Het |
| Lrrc37a |
T |
C |
11: 103,394,612 (GRCm39) |
Q271R |
probably benign |
Het |
| Mia2 |
A |
T |
12: 59,220,892 (GRCm39) |
K1083N |
possibly damaging |
Het |
| Mphosph9 |
A |
C |
5: 124,453,481 (GRCm39) |
L277R |
probably damaging |
Het |
| Myo7b |
A |
T |
18: 32,099,341 (GRCm39) |
F1694I |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,973,015 (GRCm39) |
|
probably null |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or2w6 |
T |
C |
13: 21,842,707 (GRCm39) |
Y262C |
probably damaging |
Het |
| Pcdh10 |
A |
G |
3: 45,347,156 (GRCm39) |
T984A |
probably benign |
Het |
| Pcdh20 |
T |
C |
14: 88,708,312 (GRCm39) |
S39G |
probably benign |
Het |
| Pdia3 |
T |
A |
2: 121,266,892 (GRCm39) |
Y467* |
probably null |
Het |
| Ptpn13 |
C |
A |
5: 103,745,556 (GRCm39) |
|
probably null |
Het |
| Reln |
A |
G |
5: 22,152,431 (GRCm39) |
M2345T |
probably damaging |
Het |
| Rnf126 |
A |
T |
10: 79,602,603 (GRCm39) |
I20N |
probably benign |
Het |
| Satb1 |
A |
G |
17: 52,089,981 (GRCm39) |
S289P |
possibly damaging |
Het |
| Scd4 |
A |
T |
19: 44,326,003 (GRCm39) |
H119L |
probably damaging |
Het |
| Sco2 |
T |
C |
15: 89,256,574 (GRCm39) |
T27A |
probably benign |
Het |
| Slc39a14 |
A |
T |
14: 70,544,194 (GRCm39) |
I464N |
probably damaging |
Het |
| Slc4a8 |
T |
A |
15: 100,686,092 (GRCm39) |
V220E |
probably benign |
Het |
| Themis3 |
C |
T |
17: 66,862,699 (GRCm39) |
V420I |
possibly damaging |
Het |
| Tmf1 |
T |
A |
6: 97,150,364 (GRCm39) |
T448S |
probably benign |
Het |
| Tspan33 |
G |
A |
6: 29,710,688 (GRCm39) |
R87Q |
probably damaging |
Het |
| Vmn2r91 |
A |
T |
17: 18,326,464 (GRCm39) |
M250L |
probably benign |
Het |
| Zc3h7a |
A |
T |
16: 10,974,050 (GRCm39) |
V245D |
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 |
|
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'- ATGTCTCAAGTGTCCGACAGG -3'
(R):5'- AAGCCCCTTCCTGGTGAAAC -3'
Sequencing Primer
(F):5'- TCAAGTGTCCGACAGGGTCAC -3'
(R):5'- CCTTCCTGGTGAAACATTAAAGCAG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation