Incidental Mutation 'R5341:Cpxm2'
ID |
478258 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpxm2
|
Ensembl Gene |
ENSMUSG00000030862 |
Gene Name |
carboxypeptidase X, M14 family member 2 |
Synonyms |
4632435C11Rik |
MMRRC Submission |
042920-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R5341 (G1)
|
Quality Score |
50 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
131634416-131756468 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to A
at 131756342 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130971
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033149]
[ENSMUST00000124096]
|
AlphaFold |
no structure available at present |
Predicted Effect |
unknown
Transcript: ENSMUST00000033149
AA Change: M1L
|
SMART Domains |
Protein: ENSMUSP00000033149 Gene: ENSMUSG00000030862 AA Change: M1L
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
|
Meta Mutation Damage Score |
0.2589 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.2%
|
Validation Efficiency |
97% (64/66) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb3 |
A |
G |
10: 85,223,236 (GRCm39) |
D15G |
unknown |
Het |
Actr5 |
C |
A |
2: 158,467,144 (GRCm39) |
S28* |
probably null |
Het |
Adcy1 |
A |
C |
11: 7,080,375 (GRCm39) |
M373L |
probably damaging |
Het |
Adcyap1r1 |
C |
G |
6: 55,455,054 (GRCm39) |
F111L |
probably benign |
Het |
Arid5b |
A |
T |
10: 68,113,957 (GRCm39) |
F27I |
possibly damaging |
Het |
Art5 |
C |
A |
7: 101,747,306 (GRCm39) |
V158L |
probably benign |
Het |
Bora |
T |
A |
14: 99,305,530 (GRCm39) |
Y300N |
probably damaging |
Het |
Cd300a |
A |
G |
11: 114,784,288 (GRCm39) |
T99A |
probably damaging |
Het |
Cdon |
A |
G |
9: 35,381,431 (GRCm39) |
Y607C |
probably damaging |
Het |
Cenatac |
A |
G |
9: 44,328,406 (GRCm39) |
|
probably null |
Het |
Cstdc7 |
A |
G |
18: 42,306,496 (GRCm39) |
D21G |
possibly damaging |
Het |
Dhx8 |
AGACCGGGACCGGGACCGGGACCGGGAC |
AGACCGGGACCGGGACCGGGAC |
11: 101,629,016 (GRCm39) |
|
probably benign |
Het |
Dync2i1 |
T |
C |
12: 116,219,534 (GRCm39) |
E136G |
possibly damaging |
Het |
Enox1 |
A |
C |
14: 77,815,096 (GRCm39) |
T85P |
possibly damaging |
Het |
Fanci |
T |
C |
7: 79,055,926 (GRCm39) |
L158P |
probably damaging |
Het |
Gbgt1 |
C |
A |
2: 28,395,019 (GRCm39) |
T219N |
probably damaging |
Het |
Gulo |
T |
C |
14: 66,225,707 (GRCm39) |
D373G |
probably benign |
Het |
Hivep2 |
C |
A |
10: 14,008,336 (GRCm39) |
Q1645K |
possibly damaging |
Het |
Iqce |
A |
C |
5: 140,675,814 (GRCm39) |
M114R |
possibly damaging |
Het |
Lmbrd1 |
A |
T |
1: 24,785,892 (GRCm39) |
K396* |
probably null |
Het |
Lrrk2 |
A |
T |
15: 91,657,061 (GRCm39) |
D1785V |
probably damaging |
Het |
Matcap1 |
A |
T |
8: 106,011,687 (GRCm39) |
M226K |
probably damaging |
Het |
Mcmdc2 |
ATAAAAAAAAAGGAAAAATTACCTT |
AT |
1: 10,011,142 (GRCm39) |
|
probably null |
Het |
Mepce |
A |
G |
5: 137,781,522 (GRCm39) |
V564A |
probably damaging |
Het |
Mmp17 |
A |
T |
5: 129,679,193 (GRCm39) |
D364V |
possibly damaging |
Het |
Mrgpre |
T |
C |
7: 143,335,246 (GRCm39) |
N86D |
probably benign |
Het |
Ms4a20 |
T |
C |
19: 11,087,745 (GRCm39) |
|
probably benign |
Het |
Or2r11 |
A |
T |
6: 42,437,098 (GRCm39) |
L285Q |
probably damaging |
Het |
Or4f53 |
T |
A |
2: 111,087,982 (GRCm39) |
I174K |
probably damaging |
Het |
Pate11 |
A |
T |
9: 36,388,357 (GRCm39) |
K61* |
probably null |
Het |
Pax5 |
T |
C |
4: 44,697,630 (GRCm39) |
D35G |
probably damaging |
Het |
Pip5k1b |
T |
A |
19: 24,281,440 (GRCm39) |
T473S |
probably benign |
Het |
Pkd2l2 |
A |
G |
18: 34,542,987 (GRCm39) |
|
probably null |
Het |
Pygo2 |
C |
A |
3: 89,340,067 (GRCm39) |
P155Q |
probably damaging |
Het |
Rb1cc1 |
G |
T |
1: 6,285,266 (GRCm39) |
|
probably benign |
Het |
Rbpj |
A |
G |
5: 53,799,425 (GRCm39) |
E80G |
possibly damaging |
Het |
Sbno1 |
A |
C |
5: 124,546,538 (GRCm39) |
|
probably null |
Het |
Slc1a1 |
T |
A |
19: 28,874,968 (GRCm39) |
V182E |
probably benign |
Het |
Slc34a3 |
A |
T |
2: 25,120,671 (GRCm39) |
F419I |
probably benign |
Het |
Snx8 |
A |
G |
5: 140,343,886 (GRCm39) |
V62A |
probably damaging |
Het |
Sp9 |
T |
C |
2: 73,104,858 (GRCm39) |
S471P |
possibly damaging |
Het |
Sspo |
A |
T |
6: 48,436,549 (GRCm39) |
S1270C |
probably damaging |
Het |
Stk11 |
A |
T |
10: 79,962,094 (GRCm39) |
T83S |
probably benign |
Het |
Syt13 |
A |
G |
2: 92,783,897 (GRCm39) |
E389G |
probably benign |
Het |
Taf10 |
T |
C |
7: 105,390,139 (GRCm39) |
|
probably benign |
Het |
Tgm1 |
A |
T |
14: 55,937,705 (GRCm39) |
S801R |
possibly damaging |
Het |
Thoc2l |
A |
T |
5: 104,665,942 (GRCm39) |
T155S |
probably damaging |
Het |
Timeless |
T |
C |
10: 128,083,047 (GRCm39) |
F628L |
possibly damaging |
Het |
Tmem171 |
G |
T |
13: 98,824,956 (GRCm39) |
P225T |
probably damaging |
Het |
Tspan12 |
A |
T |
6: 21,835,458 (GRCm39) |
C72S |
possibly damaging |
Het |
Txk |
T |
C |
5: 72,853,964 (GRCm39) |
T458A |
probably benign |
Het |
Txndc9 |
A |
G |
1: 38,026,704 (GRCm39) |
|
probably benign |
Het |
Uap1 |
C |
A |
1: 169,971,000 (GRCm39) |
C464F |
probably damaging |
Het |
Ugt2b36 |
A |
T |
5: 87,240,087 (GRCm39) |
Y99* |
probably null |
Het |
Usp35 |
T |
C |
7: 96,975,134 (GRCm39) |
Y13C |
probably damaging |
Het |
Vmn1r6 |
T |
G |
6: 56,979,789 (GRCm39) |
N128K |
probably damaging |
Het |
Vmn2r106 |
T |
A |
17: 20,497,788 (GRCm39) |
I484L |
probably benign |
Het |
Zdbf2 |
T |
A |
1: 63,347,092 (GRCm39) |
S1824T |
probably benign |
Het |
Zdhhc4 |
A |
G |
5: 143,311,915 (GRCm39) |
V19A |
probably benign |
Het |
Zfp955b |
C |
T |
17: 33,524,095 (GRCm39) |
|
probably benign |
Het |
Zfp97 |
T |
A |
17: 17,365,472 (GRCm39) |
C324S |
probably damaging |
Het |
Zswim8 |
G |
A |
14: 20,766,122 (GRCm39) |
D803N |
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 |
|
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 |
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'- TTCATGCATTGAAGGCGAGAAG -3'
(R):5'- TTCAACACCTGCTGGAGAGG -3'
Sequencing Primer
(F):5'- CATTGAAGGCGAGAAGAGCTCC -3'
(R):5'- TGCTGGAGAGGCCCTGG -3'
|
Posted On |
2017-06-01 |