Incidental Mutation 'R6468:Cpxm2'
| ID |
516429 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpxm2
|
| Ensembl Gene |
ENSMUSG00000030862 |
| Gene Name |
carboxypeptidase X 2 (M14 family) |
| Synonyms |
4632435C11Rik |
| MMRRC Submission |
044601-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R6468 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
132032687-132154739 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 132070860 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 320
(D320G)
|
| 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: D320G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033149
Gene: ENSMUSG00000030862
AA Change: D320G
| 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 |
0.6171 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
97% (57/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl5 |
A |
G |
10: 80,341,913 (GRCm38) |
V305A |
possibly damaging |
Het |
| Adgrl4 |
A |
G |
3: 151,492,375 (GRCm38) |
T91A |
probably benign |
Het |
| Ano6 |
A |
G |
15: 95,967,714 (GRCm38) |
I860V |
probably benign |
Het |
| B3galnt1 |
A |
G |
3: 69,575,533 (GRCm38) |
S132P |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 37,008,443 (GRCm38) |
I3368T |
probably damaging |
Het |
| Btbd10 |
A |
T |
7: 113,347,059 (GRCm38) |
V33E |
probably benign |
Het |
| Cacna1g |
A |
T |
11: 94,439,722 (GRCm38) |
V989D |
probably damaging |
Het |
| Celsr3 |
A |
G |
9: 108,835,790 (GRCm38) |
D1807G |
probably benign |
Het |
| Chd6 |
A |
G |
2: 161,013,067 (GRCm38) |
M807T |
probably damaging |
Het |
| Cryzl1 |
A |
C |
16: 91,692,525 (GRCm38) |
|
probably null |
Het |
| Dcbld2 |
A |
T |
16: 58,433,373 (GRCm38) |
K158* |
probably null |
Het |
| Depdc5 |
A |
G |
5: 32,912,231 (GRCm38) |
N437S |
probably benign |
Het |
| Dock7 |
G |
A |
4: 98,967,227 (GRCm38) |
S1496L |
probably benign |
Het |
| Eea1 |
T |
G |
10: 96,028,412 (GRCm38) |
I931R |
probably benign |
Het |
| Eif2ak4 |
C |
A |
2: 118,436,241 (GRCm38) |
L714I |
probably damaging |
Het |
| Enpep |
A |
G |
3: 129,331,860 (GRCm38) |
|
probably null |
Het |
| Fam83b |
T |
A |
9: 76,502,131 (GRCm38) |
K238* |
probably null |
Het |
| Fam83f |
A |
G |
15: 80,692,111 (GRCm38) |
Y321C |
possibly damaging |
Het |
| Fanci |
A |
G |
7: 79,417,939 (GRCm38) |
I42V |
probably benign |
Het |
| Flg2 |
A |
T |
3: 93,214,421 (GRCm38) |
R1299S |
unknown |
Het |
| Gak |
G |
T |
5: 108,623,336 (GRCm38) |
C102* |
probably null |
Het |
| Gcnt7 |
A |
G |
2: 172,454,073 (GRCm38) |
L277P |
probably damaging |
Het |
| Gucy2d |
A |
G |
7: 98,449,961 (GRCm38) |
E329G |
probably benign |
Het |
| Hacd1 |
T |
C |
2: 14,035,944 (GRCm38) |
I167V |
probably damaging |
Het |
| Hdlbp |
T |
A |
1: 93,417,667 (GRCm38) |
D662V |
possibly damaging |
Het |
| Hspa4 |
A |
T |
11: 53,265,056 (GRCm38) |
V674E |
probably benign |
Het |
| Hunk |
A |
G |
16: 90,493,432 (GRCm38) |
Q442R |
possibly damaging |
Het |
| Lce1j |
A |
T |
3: 92,789,422 (GRCm38) |
C16* |
probably null |
Het |
| Lrat |
A |
T |
3: 82,903,492 (GRCm38) |
M74K |
probably damaging |
Het |
| Lrig2 |
G |
A |
3: 104,467,193 (GRCm38) |
R191C |
probably damaging |
Het |
| Lrrc37a |
A |
C |
11: 103,460,840 (GRCm38) |
F2558L |
unknown |
Het |
| Mctp1 |
T |
A |
13: 76,731,811 (GRCm38) |
|
probably null |
Het |
| Mecom |
T |
A |
3: 30,140,386 (GRCm38) |
|
probably benign |
Het |
| Mgst1 |
A |
G |
6: 138,141,587 (GRCm38) |
|
probably null |
Het |
| Ms4a15 |
T |
G |
19: 10,993,170 (GRCm38) |
E3A |
probably benign |
Het |
| Myo1d |
T |
C |
11: 80,557,474 (GRCm38) |
I942V |
probably benign |
Het |
| Neu2 |
A |
G |
1: 87,596,878 (GRCm38) |
Y195C |
probably damaging |
Het |
| Nipa1 |
A |
T |
7: 56,019,504 (GRCm38) |
V22E |
probably benign |
Het |
| Or4n4b |
A |
T |
14: 50,298,467 (GRCm38) |
L281I |
probably benign |
Het |
| Or6c35 |
T |
C |
10: 129,333,711 (GRCm38) |
S277P |
possibly damaging |
Het |
| Or8k25 |
T |
A |
2: 86,414,037 (GRCm38) |
N5I |
probably damaging |
Het |
| Pik3r4 |
A |
G |
9: 105,685,190 (GRCm38) |
T1223A |
possibly damaging |
Het |
| Ppl |
T |
C |
16: 5,092,441 (GRCm38) |
D811G |
probably damaging |
Het |
| Prep |
T |
A |
10: 45,115,107 (GRCm38) |
Y290N |
probably damaging |
Het |
| Ptk6 |
A |
T |
2: 181,199,102 (GRCm38) |
H215Q |
probably benign |
Het |
| Rad50 |
A |
G |
11: 53,692,144 (GRCm38) |
I474T |
possibly damaging |
Het |
| Rnf213 |
T |
A |
11: 119,452,687 (GRCm38) |
V3626E |
possibly damaging |
Het |
| Scn4a |
C |
T |
11: 106,345,676 (GRCm38) |
V253M |
probably damaging |
Het |
| Snta1 |
T |
A |
2: 154,377,149 (GRCm38) |
D422V |
probably damaging |
Het |
| Spata31h1 |
G |
T |
10: 82,295,316 (GRCm38) |
T620K |
probably benign |
Het |
| Stk38 |
A |
G |
17: 28,984,112 (GRCm38) |
L160P |
probably benign |
Het |
| Tapbp |
T |
C |
17: 33,926,098 (GRCm38) |
F323S |
probably damaging |
Het |
| Uggt1 |
C |
T |
1: 36,173,450 (GRCm38) |
R937Q |
probably benign |
Het |
| Vash2 |
G |
A |
1: 190,978,287 (GRCm38) |
P57L |
probably damaging |
Het |
| Vmn1r4 |
G |
A |
6: 56,956,867 (GRCm38) |
V119I |
probably benign |
Het |
| Vmn2r74 |
T |
C |
7: 85,961,391 (GRCm38) |
D31G |
probably benign |
Het |
| Zfp114 |
T |
C |
7: 24,177,781 (GRCm38) |
V16A |
possibly damaging |
Het |
|
| Other mutations in Cpxm2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01862:Cpxm2
|
APN |
7 |
132,059,811 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02039:Cpxm2
|
APN |
7 |
132,047,753 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03011:Cpxm2
|
APN |
7 |
132,049,078 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R0033:Cpxm2
|
UTSW |
7 |
132,062,157 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R0100:Cpxm2
|
UTSW |
7 |
132,054,871 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R0100:Cpxm2
|
UTSW |
7 |
132,054,871 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R0453:Cpxm2
|
UTSW |
7 |
132,128,405 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0555:Cpxm2
|
UTSW |
7 |
132,044,043 (GRCm38) |
nonsense |
probably null |
|
|
R0655:Cpxm2
|
UTSW |
7 |
132,054,820 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R0834:Cpxm2
|
UTSW |
7 |
132,154,613 (GRCm38) |
intron |
probably benign |
|
|
R1145:Cpxm2
|
UTSW |
7 |
132,057,648 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1145:Cpxm2
|
UTSW |
7 |
132,057,648 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1249:Cpxm2
|
UTSW |
7 |
132,128,350 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1563:Cpxm2
|
UTSW |
7 |
132,143,682 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1565:Cpxm2
|
UTSW |
7 |
132,062,145 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1709:Cpxm2
|
UTSW |
7 |
132,059,834 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1863:Cpxm2
|
UTSW |
7 |
132,143,663 (GRCm38) |
splice site |
probably null |
|
|
R1874:Cpxm2
|
UTSW |
7 |
132,059,834 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1958:Cpxm2
|
UTSW |
7 |
132,062,147 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2273:Cpxm2
|
UTSW |
7 |
132,059,852 (GRCm38) |
intron |
probably benign |
|
|
R3806:Cpxm2
|
UTSW |
7 |
132,080,091 (GRCm38) |
missense |
probably benign |
0.12 |
|
R3861:Cpxm2
|
UTSW |
7 |
132,054,919 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4570:Cpxm2
|
UTSW |
7 |
132,143,706 (GRCm38) |
missense |
probably benign |
0.11 |
|
R4642:Cpxm2
|
UTSW |
7 |
132,070,881 (GRCm38) |
missense |
probably benign |
0.11 |
|
R4684:Cpxm2
|
UTSW |
7 |
132,049,038 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R4717:Cpxm2
|
UTSW |
7 |
132,054,845 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R4863:Cpxm2
|
UTSW |
7 |
132,059,747 (GRCm38) |
missense |
probably benign |
0.13 |
|
R5079:Cpxm2
|
UTSW |
7 |
132,154,285 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5341:Cpxm2
|
UTSW |
7 |
132,154,613 (GRCm38) |
intron |
probably benign |
|
|
R5626:Cpxm2
|
UTSW |
7 |
132,059,852 (GRCm38) |
intron |
probably benign |
|
|
R5666:Cpxm2
|
UTSW |
7 |
132,054,896 (GRCm38) |
missense |
probably benign |
0.44 |
|
R5815:Cpxm2
|
UTSW |
7 |
132,044,110 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6114:Cpxm2
|
UTSW |
7 |
132,154,306 (GRCm38) |
missense |
probably benign |
|
|
R6133:Cpxm2
|
UTSW |
7 |
132,128,453 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6224:Cpxm2
|
UTSW |
7 |
132,143,731 (GRCm38) |
missense |
probably benign |
|
|
R6657:Cpxm2
|
UTSW |
7 |
132,049,077 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7058:Cpxm2
|
UTSW |
7 |
132,143,679 (GRCm38) |
missense |
probably benign |
0.32 |
|
R7100:Cpxm2
|
UTSW |
7 |
132,054,815 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7198:Cpxm2
|
UTSW |
7 |
132,080,084 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7712:Cpxm2
|
UTSW |
7 |
132,154,378 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R7855:Cpxm2
|
UTSW |
7 |
132,057,695 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R7867:Cpxm2
|
UTSW |
7 |
132,049,071 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8513:Cpxm2
|
UTSW |
7 |
132,143,702 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8694:Cpxm2
|
UTSW |
7 |
132,080,054 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8874:Cpxm2
|
UTSW |
7 |
132,106,281 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8967:Cpxm2
|
UTSW |
7 |
132,059,835 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9680:Cpxm2
|
UTSW |
7 |
132,059,922 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9759:Cpxm2
|
UTSW |
7 |
132,154,513 (GRCm38) |
missense |
probably benign |
0.03 |
|
RF014:Cpxm2
|
UTSW |
7 |
132,070,863 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
Z1177:Cpxm2
|
UTSW |
7 |
132,055,001 (GRCm38) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGACACACAAAAGCTTTAGGG -3'
(R):5'- TGCCTCTGAGCCAAATGTTAG -3'
Sequencing Primer
(F):5'- TAGGGACTAAAGACTTCAATGCC -3'
(R):5'- GCCTCTGAGCCAAATGTTAGAAGTTC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation