Incidental Mutation 'R5079:Cpxm2'
ID |
387027 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpxm2
|
Ensembl Gene |
ENSMUSG00000030862 |
Gene Name |
carboxypeptidase X, M14 family member 2 |
Synonyms |
4632435C11Rik |
MMRRC Submission |
042668-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R5079 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
131634416-131756468 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 131756014 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033149
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033149]
[ENSMUST00000124096]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000033149
|
SMART Domains |
Protein: ENSMUSP00000033149 Gene: ENSMUSG00000030862
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 |
0.9392 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.6%
|
Validation Efficiency |
90% (63/70) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
T |
C |
5: 109,885,196 (GRCm39) |
S221G |
probably benign |
Het |
Abca9 |
A |
T |
11: 110,036,395 (GRCm39) |
F571L |
possibly damaging |
Het |
Agbl4 |
T |
A |
4: 111,423,826 (GRCm39) |
M284K |
possibly damaging |
Het |
Ankrd16 |
A |
G |
2: 11,783,710 (GRCm39) |
D104G |
probably damaging |
Het |
Bpifc |
T |
C |
10: 85,817,168 (GRCm39) |
D230G |
probably damaging |
Het |
Casc3 |
C |
T |
11: 98,701,252 (GRCm39) |
|
probably benign |
Het |
Catsperd |
T |
C |
17: 56,965,153 (GRCm39) |
|
probably null |
Het |
Crisp1 |
A |
T |
17: 40,619,867 (GRCm39) |
|
probably null |
Het |
Crybg2 |
T |
C |
4: 133,801,564 (GRCm39) |
I908T |
possibly damaging |
Het |
Csn3 |
T |
C |
5: 88,077,626 (GRCm39) |
V44A |
possibly damaging |
Het |
Dipk1c |
A |
T |
18: 84,748,702 (GRCm39) |
H100L |
probably benign |
Het |
Dop1a |
T |
A |
9: 86,369,474 (GRCm39) |
D102E |
probably damaging |
Het |
Etfdh |
T |
C |
3: 79,525,705 (GRCm39) |
Y111C |
probably damaging |
Het |
Fat3 |
T |
C |
9: 15,910,423 (GRCm39) |
S1860G |
probably benign |
Het |
Gba2 |
G |
T |
4: 43,568,640 (GRCm39) |
|
probably benign |
Het |
Ggta1 |
A |
G |
2: 35,312,249 (GRCm39) |
I43T |
possibly damaging |
Het |
Glb1l2 |
T |
C |
9: 26,682,405 (GRCm39) |
I149V |
probably benign |
Het |
Gm5084 |
T |
A |
13: 60,360,639 (GRCm39) |
|
noncoding transcript |
Het |
Gm5591 |
G |
T |
7: 38,221,560 (GRCm39) |
P170T |
probably benign |
Het |
Gucy2d |
A |
T |
7: 98,107,475 (GRCm39) |
|
probably null |
Het |
Itpr3 |
T |
C |
17: 27,317,397 (GRCm39) |
F851L |
probably damaging |
Het |
Kat2b |
T |
A |
17: 53,970,666 (GRCm39) |
I684N |
probably damaging |
Het |
Klra17 |
C |
A |
6: 129,849,159 (GRCm39) |
K138N |
possibly damaging |
Het |
Lrrc4 |
T |
A |
6: 28,830,769 (GRCm39) |
H282L |
possibly damaging |
Het |
Lyst |
T |
C |
13: 13,931,938 (GRCm39) |
I3522T |
probably benign |
Het |
Man2c1 |
A |
G |
9: 57,044,000 (GRCm39) |
T312A |
probably damaging |
Het |
Mapkbp1 |
A |
G |
2: 119,844,214 (GRCm39) |
R313G |
probably damaging |
Het |
N4bp2 |
G |
A |
5: 65,969,320 (GRCm39) |
G1361R |
probably damaging |
Het |
Nbas |
A |
T |
12: 13,424,712 (GRCm39) |
I984F |
probably damaging |
Het |
Ncor1 |
T |
A |
11: 62,236,063 (GRCm39) |
Q579L |
possibly damaging |
Het |
Nme9 |
A |
G |
9: 99,341,755 (GRCm39) |
Y35C |
probably damaging |
Het |
Or5w13 |
C |
A |
2: 87,523,552 (GRCm39) |
V225F |
probably damaging |
Het |
Ormdl1 |
T |
C |
1: 53,348,093 (GRCm39) |
V145A |
probably damaging |
Het |
Paxbp1 |
C |
A |
16: 90,822,034 (GRCm39) |
|
probably null |
Het |
Pcnx1 |
C |
A |
12: 82,025,863 (GRCm39) |
S1530* |
probably null |
Het |
Pogk |
A |
G |
1: 166,226,733 (GRCm39) |
W473R |
probably damaging |
Het |
Pot1b |
A |
T |
17: 55,976,801 (GRCm39) |
S374T |
probably benign |
Het |
Rcn1 |
A |
G |
2: 105,229,402 (GRCm39) |
F50S |
probably damaging |
Het |
Rcvrn |
T |
A |
11: 67,593,767 (GRCm39) |
I186N |
probably damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Ror1 |
T |
A |
4: 100,298,619 (GRCm39) |
I664N |
probably damaging |
Het |
Sall2 |
G |
T |
14: 52,552,211 (GRCm39) |
A326E |
probably damaging |
Het |
Sh2d6 |
G |
A |
6: 72,496,833 (GRCm39) |
P66S |
probably benign |
Het |
Slc6a20b |
T |
A |
9: 123,427,563 (GRCm39) |
S449C |
probably damaging |
Het |
Slc9a3 |
A |
T |
13: 74,312,406 (GRCm39) |
N668Y |
probably damaging |
Het |
Slco1a8 |
A |
C |
6: 141,918,073 (GRCm39) |
I601R |
probably benign |
Het |
Sorcs2 |
T |
G |
5: 36,200,796 (GRCm39) |
K584T |
probably damaging |
Het |
Stam |
T |
C |
2: 14,079,350 (GRCm39) |
M8T |
probably benign |
Het |
Styk1 |
G |
A |
6: 131,278,676 (GRCm39) |
P333S |
probably damaging |
Het |
Sycp1 |
A |
G |
3: 102,786,116 (GRCm39) |
C589R |
possibly damaging |
Het |
Tas2r123 |
A |
G |
6: 132,824,681 (GRCm39) |
I193V |
probably benign |
Het |
Tnks1bp1 |
C |
A |
2: 84,892,970 (GRCm39) |
Q304K |
probably damaging |
Het |
Traf3ip2 |
T |
C |
10: 39,502,473 (GRCm39) |
L207P |
probably damaging |
Het |
Usp49 |
A |
G |
17: 47,984,146 (GRCm39) |
S384G |
possibly damaging |
Het |
Vezt |
T |
C |
10: 93,856,486 (GRCm39) |
|
probably null |
Het |
Vmn1r87 |
C |
A |
7: 12,866,253 (GRCm39) |
M11I |
probably benign |
Het |
Vmn2r39 |
A |
G |
7: 9,026,489 (GRCm39) |
V504A |
probably benign |
Het |
Wapl |
G |
A |
14: 34,446,714 (GRCm39) |
A607T |
probably damaging |
Het |
Zfp638 |
A |
G |
6: 83,906,438 (GRCm39) |
N201S |
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 |
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 |
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'- CCATTCTGTTTCTGCCTGAGGG -3'
(R):5'- CTGACTATTACAGCCAGGAGC -3'
Sequencing Primer
(F):5'- CTGAGGGGGCAGGGAGAG -3'
(R):5'- TATTATGGGCATCCGGAGCC -3'
|
Posted On |
2016-06-06 |