Incidental Mutation 'R6114:Cpxm2'
| ID |
485022 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpxm2
|
| Ensembl Gene |
ENSMUSG00000030862 |
| Gene Name |
carboxypeptidase X, M14 family member 2 |
| Synonyms |
4632435C11Rik |
| MMRRC Submission |
044263-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R6114 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
131634416-131756468 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 131756035 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 103
(V103A)
|
| 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: V103A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000033149
Gene: ENSMUSG00000030862
AA Change: V103A
| 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: ENSMUST00000152302
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
| Validation Efficiency |
94% (60/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamdec1 |
C |
A |
14: 68,809,252 (GRCm39) |
V237L |
probably benign |
Het |
| Aff1 |
T |
C |
5: 103,990,163 (GRCm39) |
S878P |
probably damaging |
Het |
| Ahcy |
A |
C |
2: 154,904,079 (GRCm39) |
L386R |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,804,700 (GRCm39) |
N607D |
probably damaging |
Het |
| Arid5b |
T |
C |
10: 67,933,574 (GRCm39) |
D776G |
possibly damaging |
Het |
| Art4 |
T |
A |
6: 136,834,211 (GRCm39) |
T11S |
unknown |
Het |
| Blm |
T |
C |
7: 80,163,235 (GRCm39) |
T39A |
probably damaging |
Het |
| Cabin1 |
T |
A |
10: 75,583,805 (GRCm39) |
M221L |
probably benign |
Het |
| Cacna1c |
T |
C |
6: 118,573,101 (GRCm39) |
T1675A |
probably benign |
Het |
| Cacnb2 |
A |
T |
2: 14,980,012 (GRCm39) |
H285L |
possibly damaging |
Het |
| Cchcr1 |
A |
G |
17: 35,836,227 (GRCm39) |
E339G |
probably damaging |
Het |
| Cd14 |
A |
G |
18: 36,859,006 (GRCm39) |
W150R |
probably damaging |
Het |
| Cep162 |
A |
G |
9: 87,085,763 (GRCm39) |
I1187T |
probably benign |
Het |
| Cntnap4 |
A |
G |
8: 113,568,385 (GRCm39) |
H807R |
probably damaging |
Het |
| Copb1 |
T |
A |
7: 113,846,036 (GRCm39) |
H178L |
probably benign |
Het |
| Egfr |
A |
G |
11: 16,854,374 (GRCm39) |
T849A |
possibly damaging |
Het |
| Endou |
T |
A |
15: 97,611,757 (GRCm39) |
K294* |
probably null |
Het |
| Hoxd9 |
A |
G |
2: 74,529,709 (GRCm39) |
N322D |
probably damaging |
Het |
| Hsph1 |
C |
A |
5: 149,550,852 (GRCm39) |
V416L |
possibly damaging |
Het |
| Igkv4-78 |
T |
A |
6: 69,036,743 (GRCm39) |
T97S |
possibly damaging |
Het |
| Itga10 |
G |
T |
3: 96,556,351 (GRCm39) |
C162F |
probably damaging |
Het |
| Lmod2 |
A |
G |
6: 24,603,691 (GRCm39) |
E222G |
probably damaging |
Het |
| Lpar5 |
A |
G |
6: 125,058,639 (GRCm39) |
N120S |
probably damaging |
Het |
| Lrrc37 |
T |
A |
11: 103,508,617 (GRCm39) |
|
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,632,029 (GRCm39) |
I1318V |
probably benign |
Het |
| Lst1 |
T |
C |
17: 35,407,336 (GRCm39) |
T11A |
possibly damaging |
Het |
| Mfn1 |
C |
A |
3: 32,617,985 (GRCm39) |
A106D |
probably damaging |
Het |
| Ms4a12 |
G |
T |
19: 11,192,654 (GRCm39) |
N227K |
probably benign |
Het |
| Nr1h4 |
T |
A |
10: 89,314,678 (GRCm39) |
N273Y |
possibly damaging |
Het |
| Nrdc |
A |
T |
4: 108,901,782 (GRCm39) |
K617M |
probably damaging |
Het |
| Or10a3b |
A |
T |
7: 108,444,593 (GRCm39) |
M208K |
possibly damaging |
Het |
| Or1l8 |
A |
T |
2: 36,817,701 (GRCm39) |
C142S |
possibly damaging |
Het |
| Or6c202 |
T |
A |
10: 128,996,202 (GRCm39) |
H217L |
probably benign |
Het |
| Pcdhgc3 |
C |
G |
18: 37,940,925 (GRCm39) |
T442R |
probably benign |
Het |
| Pcnx2 |
T |
C |
8: 126,500,686 (GRCm39) |
N1468S |
probably damaging |
Het |
| Pde2a |
A |
T |
7: 101,160,319 (GRCm39) |
|
probably null |
Het |
| Pitx2 |
C |
G |
3: 128,998,062 (GRCm39) |
|
probably null |
Het |
| Reck |
T |
A |
4: 43,922,895 (GRCm39) |
I390N |
probably damaging |
Het |
| Rora |
A |
G |
9: 69,278,605 (GRCm39) |
N254S |
probably benign |
Het |
| Samd4b |
A |
G |
7: 28,222,217 (GRCm39) |
|
probably null |
Het |
| Scn8a |
A |
G |
15: 100,938,477 (GRCm39) |
T1949A |
probably damaging |
Het |
| Slc22a15 |
A |
T |
3: 101,768,168 (GRCm39) |
Y346* |
probably null |
Het |
| Slc24a5 |
A |
G |
2: 124,925,012 (GRCm39) |
T218A |
probably benign |
Het |
| Slc38a10 |
G |
A |
11: 120,020,138 (GRCm39) |
Q305* |
probably null |
Het |
| Slc45a4 |
G |
A |
15: 73,477,453 (GRCm39) |
P28S |
probably damaging |
Het |
| Smyd5 |
A |
T |
6: 85,417,244 (GRCm39) |
|
probably benign |
Het |
| Sox8 |
T |
C |
17: 25,786,494 (GRCm39) |
D403G |
probably damaging |
Het |
| Stx7 |
A |
G |
10: 24,060,883 (GRCm39) |
|
probably null |
Het |
| Svil |
T |
C |
18: 5,108,639 (GRCm39) |
S1522P |
probably damaging |
Het |
| Sycp2 |
G |
C |
2: 177,990,038 (GRCm39) |
R1403G |
probably benign |
Het |
| Tasor2 |
G |
A |
13: 3,640,081 (GRCm39) |
T352M |
probably damaging |
Het |
| Tcf25 |
A |
T |
8: 124,111,114 (GRCm39) |
K192M |
probably damaging |
Het |
| Tecpr1 |
C |
T |
5: 144,141,458 (GRCm39) |
G804S |
possibly damaging |
Het |
| Teddm1a |
C |
G |
1: 153,767,614 (GRCm39) |
S26C |
probably damaging |
Het |
| Usp13 |
C |
T |
3: 32,908,818 (GRCm39) |
P155S |
probably damaging |
Het |
| Usp17lb |
T |
A |
7: 104,489,571 (GRCm39) |
D451V |
possibly damaging |
Het |
| Vmn1r173 |
A |
G |
7: 23,402,254 (GRCm39) |
N163S |
possibly damaging |
Het |
| Vmn2r103 |
G |
T |
17: 20,032,587 (GRCm39) |
C787F |
probably damaging |
Het |
| Vmn2r106 |
G |
A |
17: 20,488,638 (GRCm39) |
P587L |
probably benign |
Het |
| Wdr24 |
C |
T |
17: 26,043,579 (GRCm39) |
H134Y |
probably benign |
Het |
| Zbtb40 |
T |
A |
4: 136,716,002 (GRCm39) |
I988F |
probably damaging |
Het |
| Zbtb47 |
T |
A |
9: 121,594,661 (GRCm39) |
F540Y |
probably damaging |
Het |
| Zfp536 |
A |
T |
7: 37,179,161 (GRCm39) |
I84N |
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 |
|
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'- CCATTCTGTTTCTGCCTGAGGG -3'
(R):5'- CTGACTATTACAGCCAGGAGC -3'
Sequencing Primer
(F):5'- CAGGGAGAGAAAGCTGAACTTAGC -3'
(R):5'- CAGGAGCTCTGGCGGCG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation