Incidental Mutation 'R5666:Cpxm2'
| ID |
444428 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpxm2
|
| Ensembl Gene |
ENSMUSG00000030862 |
| Gene Name |
carboxypeptidase X, M14 family member 2 |
| Synonyms |
4632435C11Rik |
| MMRRC Submission |
043309-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R5666 (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 T
at 131656625 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 546
(E546K)
|
| 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: E546K
PolyPhen 2
Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000033149
Gene: ENSMUSG00000030862
AA Change: E546K
| 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 |
noncoding transcript
Transcript: ENSMUST00000122681
|
| 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: ENSMUST00000150405
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930524J08Rik |
T |
C |
5: 100,127,068 (GRCm39) |
|
probably benign |
Het |
| Abce1 |
C |
A |
8: 80,416,906 (GRCm39) |
E368D |
probably benign |
Het |
| Becn2 |
C |
T |
1: 175,749,179 (GRCm39) |
T415M |
probably damaging |
Het |
| Bmper |
T |
A |
9: 23,384,759 (GRCm39) |
M588K |
probably damaging |
Het |
| Bop1 |
T |
C |
15: 76,338,433 (GRCm39) |
E503G |
probably benign |
Het |
| Btla |
A |
T |
16: 45,070,782 (GRCm39) |
D247V |
probably damaging |
Het |
| Cap2 |
T |
A |
13: 46,684,559 (GRCm39) |
|
probably null |
Het |
| Chd2 |
A |
T |
7: 73,091,465 (GRCm39) |
I1592K |
probably benign |
Het |
| Chd3 |
T |
C |
11: 69,244,177 (GRCm39) |
E1202G |
possibly damaging |
Het |
| Cmya5 |
T |
C |
13: 93,182,457 (GRCm39) |
I3568V |
possibly damaging |
Het |
| Col4a4 |
A |
G |
1: 82,463,300 (GRCm39) |
|
probably null |
Het |
| Cyp2j5 |
C |
T |
4: 96,546,930 (GRCm39) |
V195I |
probably benign |
Het |
| Ddb2 |
C |
T |
2: 91,042,926 (GRCm39) |
V353M |
probably damaging |
Het |
| Dscam |
G |
A |
16: 96,519,364 (GRCm39) |
T791I |
probably benign |
Het |
| Dtd2 |
T |
A |
12: 52,046,643 (GRCm39) |
L65F |
probably damaging |
Het |
| E2f1 |
T |
A |
2: 154,411,101 (GRCm39) |
|
probably benign |
Het |
| Ephb3 |
A |
G |
16: 21,041,241 (GRCm39) |
N732S |
probably benign |
Het |
| Fkbp10 |
G |
T |
11: 100,314,352 (GRCm39) |
W384L |
probably damaging |
Het |
| Foxm1 |
C |
T |
6: 128,350,130 (GRCm39) |
S339L |
possibly damaging |
Het |
| Fzd6 |
A |
T |
15: 38,894,510 (GRCm39) |
R225S |
probably benign |
Het |
| Gfpt1 |
A |
T |
6: 87,030,795 (GRCm39) |
I60F |
possibly damaging |
Het |
| Glce |
A |
G |
9: 61,967,793 (GRCm39) |
S453P |
probably damaging |
Het |
| Gm4787 |
G |
A |
12: 81,424,805 (GRCm39) |
T451I |
probably benign |
Het |
| Hs2st1 |
A |
T |
3: 144,275,554 (GRCm39) |
V22E |
probably damaging |
Het |
| Hspa9 |
T |
C |
18: 35,087,300 (GRCm39) |
I2V |
probably null |
Het |
| Ikzf2 |
A |
G |
1: 69,617,059 (GRCm39) |
V96A |
probably benign |
Het |
| Ilkap |
T |
C |
1: 91,318,863 (GRCm39) |
T38A |
probably benign |
Het |
| Lpin3 |
A |
G |
2: 160,739,250 (GRCm39) |
T353A |
probably benign |
Het |
| Myh1 |
T |
A |
11: 67,112,178 (GRCm39) |
I1744N |
probably benign |
Het |
| Nadsyn1 |
C |
T |
7: 143,361,168 (GRCm39) |
G335S |
probably damaging |
Het |
| Ndc1 |
T |
C |
4: 107,246,723 (GRCm39) |
V382A |
possibly damaging |
Het |
| Ndufaf4 |
A |
T |
4: 24,898,636 (GRCm39) |
D64V |
probably damaging |
Het |
| Nfe2l2 |
T |
C |
2: 75,507,462 (GRCm39) |
T213A |
probably benign |
Het |
| Nkain4 |
A |
G |
2: 180,584,995 (GRCm39) |
L73P |
probably damaging |
Het |
| Nmt1 |
C |
T |
11: 102,949,041 (GRCm39) |
R299* |
probably null |
Het |
| Or1j20 |
T |
A |
2: 36,760,401 (GRCm39) |
D274E |
probably benign |
Het |
| Or2y8 |
A |
C |
11: 52,035,525 (GRCm39) |
Y277* |
probably null |
Het |
| Or4b12 |
T |
C |
2: 90,096,308 (GRCm39) |
I155M |
probably benign |
Het |
| Or5k1 |
G |
A |
16: 58,617,424 (GRCm39) |
P262S |
possibly damaging |
Het |
| Padi2 |
G |
T |
4: 140,676,542 (GRCm39) |
R560L |
possibly damaging |
Het |
| Palmd |
T |
C |
3: 116,717,750 (GRCm39) |
N249S |
possibly damaging |
Het |
| Pde1c |
A |
C |
6: 56,103,842 (GRCm39) |
|
probably null |
Het |
| Pdgfra |
T |
C |
5: 75,334,156 (GRCm39) |
S410P |
probably benign |
Het |
| Phldb1 |
T |
C |
9: 44,627,078 (GRCm39) |
M456V |
probably damaging |
Het |
| Pla2g2d |
T |
A |
4: 138,507,591 (GRCm39) |
C82S |
probably damaging |
Het |
| Rgs21 |
A |
G |
1: 144,412,680 (GRCm39) |
V48A |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Slc4a2 |
G |
T |
5: 24,639,836 (GRCm39) |
V506L |
probably damaging |
Het |
| Slc7a4 |
A |
G |
16: 17,393,815 (GRCm39) |
|
probably benign |
Het |
| Sptbn5 |
C |
G |
2: 119,916,048 (GRCm39) |
|
probably benign |
Het |
| Sstr2 |
T |
A |
11: 113,515,539 (GRCm39) |
W153R |
probably damaging |
Het |
| Steap2 |
C |
T |
5: 5,723,681 (GRCm39) |
V400I |
probably benign |
Het |
| Syne2 |
G |
A |
12: 75,997,733 (GRCm39) |
G2236D |
probably benign |
Het |
| Tas2r130 |
T |
C |
6: 131,607,342 (GRCm39) |
N151S |
possibly damaging |
Het |
| Tex52 |
T |
C |
6: 128,352,518 (GRCm39) |
S13P |
probably benign |
Het |
| Tmprss13 |
A |
G |
9: 45,256,253 (GRCm39) |
I456V |
probably damaging |
Het |
| Trim24 |
T |
C |
6: 37,942,536 (GRCm39) |
F946S |
probably benign |
Het |
| Vmn2r10 |
A |
T |
5: 109,146,910 (GRCm39) |
Y459* |
probably null |
Het |
| Vwa1 |
A |
G |
4: 155,858,922 (GRCm39) |
L13P |
probably damaging |
Het |
| Zfp648 |
C |
A |
1: 154,079,963 (GRCm39) |
Q41K |
probably benign |
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 |
|
|
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 |
|
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'- ACGTACTTCCAGCCACTGTG -3'
(R):5'- CCAGGGCACAGTTTGAGATTTTG -3'
Sequencing Primer
(F):5'- ACTGTGTGCCAGGAAGC -3'
(R):5'- GCACAGTTTGAGATTTTGAATATTGC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation