Incidental Mutation 'R7198:Cpxm2'
ID |
560082 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpxm2
|
Ensembl Gene |
ENSMUSG00000030862 |
Gene Name |
carboxypeptidase X, M14 family member 2 |
Synonyms |
4632435C11Rik |
MMRRC Submission |
045337-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R7198 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
131634416-131756468 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 131681813 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Tyrosine
at position 239
(N239Y)
|
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: N239Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000033149 Gene: ENSMUSG00000030862 AA Change: N239Y
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 |
|
Meta Mutation Damage Score |
0.7773 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
98% (62/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
C |
T |
11: 109,969,481 (GRCm39) |
S365N |
probably damaging |
Het |
Baiap3 |
G |
A |
17: 25,462,814 (GRCm39) |
R1075C |
probably benign |
Het |
Baz2b |
A |
G |
2: 59,792,550 (GRCm39) |
L526P |
probably benign |
Het |
Bbs1 |
A |
T |
19: 4,945,043 (GRCm39) |
L376Q |
probably damaging |
Het |
Bcl9 |
T |
A |
3: 97,112,511 (GRCm39) |
M1315L |
possibly damaging |
Het |
Bcl9 |
T |
C |
3: 97,116,183 (GRCm39) |
Q837R |
probably damaging |
Het |
Cct2 |
A |
G |
10: 116,889,029 (GRCm39) |
V490A |
probably benign |
Het |
Cdh23 |
T |
C |
10: 60,148,378 (GRCm39) |
Y2663C |
possibly damaging |
Het |
Chit1 |
A |
G |
1: 134,078,229 (GRCm39) |
K346E |
possibly damaging |
Het |
Chl1 |
A |
G |
6: 103,683,517 (GRCm39) |
Y781C |
probably damaging |
Het |
Col12a1 |
A |
C |
9: 79,557,314 (GRCm39) |
L1938R |
possibly damaging |
Het |
Cyp3a41b |
A |
G |
5: 145,519,330 (GRCm39) |
Y54H |
probably benign |
Het |
Dclk1 |
A |
C |
3: 55,385,296 (GRCm39) |
D369A |
possibly damaging |
Het |
Dnai4 |
A |
G |
4: 102,919,610 (GRCm39) |
V498A |
probably damaging |
Het |
Dpy19l3 |
T |
C |
7: 35,449,190 (GRCm39) |
N71S |
possibly damaging |
Het |
Efcab3 |
T |
A |
11: 104,642,711 (GRCm39) |
N1111K |
probably benign |
Het |
Fer |
T |
A |
17: 64,228,683 (GRCm39) |
V186E |
possibly damaging |
Het |
Gm11042 |
T |
A |
12: 74,361,888 (GRCm39) |
H39L |
unknown |
Het |
Gm14325 |
A |
G |
2: 177,473,798 (GRCm39) |
I428T |
probably benign |
Het |
Gm47995 |
A |
G |
1: 151,074,404 (GRCm39) |
E69G |
possibly damaging |
Het |
Gm6176 |
T |
A |
7: 21,750,596 (GRCm39) |
I112F |
probably damaging |
Het |
Hivep2 |
T |
A |
10: 14,005,710 (GRCm39) |
D769E |
probably benign |
Het |
Hsdl1 |
C |
T |
8: 120,294,607 (GRCm39) |
V40I |
probably benign |
Het |
Ipmk |
A |
G |
10: 71,183,882 (GRCm39) |
H34R |
probably damaging |
Het |
Kcnd3 |
T |
C |
3: 105,366,856 (GRCm39) |
L242P |
probably damaging |
Het |
Kdm4d |
T |
C |
9: 14,375,316 (GRCm39) |
M181V |
probably damaging |
Het |
Lats2 |
A |
T |
14: 57,934,582 (GRCm39) |
I716N |
probably damaging |
Het |
Liph |
T |
C |
16: 21,784,772 (GRCm39) |
Y305C |
probably damaging |
Het |
Ltbp1 |
T |
C |
17: 75,533,962 (GRCm39) |
V150A |
possibly damaging |
Het |
Ly6d |
A |
T |
15: 74,634,384 (GRCm39) |
S69T |
probably benign |
Het |
Meltf |
A |
G |
16: 31,702,617 (GRCm39) |
R115G |
possibly damaging |
Het |
Msgn1 |
G |
T |
12: 11,258,902 (GRCm39) |
D16E |
probably benign |
Het |
Mthfd2l |
T |
A |
5: 91,094,705 (GRCm39) |
I58K |
probably damaging |
Het |
Mup18 |
G |
C |
4: 61,591,573 (GRCm39) |
|
probably null |
Het |
Nek10 |
T |
A |
14: 14,850,947 (GRCm38) |
W331R |
probably damaging |
Het |
Nphp3 |
A |
G |
9: 103,881,974 (GRCm39) |
Y148C |
probably damaging |
Het |
Or4a47 |
T |
C |
2: 89,666,076 (GRCm39) |
Y71C |
probably damaging |
Het |
Or5h19 |
C |
T |
16: 58,856,456 (GRCm39) |
V215I |
probably benign |
Het |
Or6c33 |
T |
A |
10: 129,853,760 (GRCm39) |
C177S |
probably damaging |
Het |
Oscp1 |
A |
G |
4: 125,980,459 (GRCm39) |
T325A |
possibly damaging |
Het |
Pcdha4 |
T |
A |
18: 37,086,613 (GRCm39) |
N265K |
probably damaging |
Het |
Pigq |
C |
T |
17: 26,153,199 (GRCm39) |
V331I |
probably benign |
Het |
Plekhg4 |
A |
G |
8: 106,105,329 (GRCm39) |
E598G |
probably damaging |
Het |
Pou6f2 |
G |
A |
13: 18,303,748 (GRCm39) |
T120M |
probably damaging |
Het |
Psg27 |
T |
A |
7: 18,295,726 (GRCm39) |
T240S |
probably damaging |
Het |
Samd12 |
T |
A |
15: 53,723,649 (GRCm39) |
I15F |
probably damaging |
Het |
Scaf4 |
A |
T |
16: 90,049,318 (GRCm39) |
D256E |
unknown |
Het |
Scaf8 |
T |
A |
17: 3,213,373 (GRCm39) |
M154K |
unknown |
Het |
Slc27a1 |
T |
C |
8: 72,032,071 (GRCm39) |
V64A |
possibly damaging |
Het |
Smc5 |
G |
A |
19: 23,237,064 (GRCm39) |
R256* |
probably null |
Het |
Snx31 |
A |
G |
15: 36,555,455 (GRCm39) |
F31L |
probably benign |
Het |
Spag17 |
T |
C |
3: 100,002,888 (GRCm39) |
S1871P |
probably benign |
Het |
Tdpoz4 |
T |
G |
3: 93,704,662 (GRCm39) |
S320A |
probably benign |
Het |
Tmprss11c |
A |
T |
5: 86,379,691 (GRCm39) |
C406S |
probably damaging |
Het |
Tnip1 |
G |
A |
11: 54,808,630 (GRCm39) |
A519V |
probably benign |
Het |
Tssc4 |
T |
A |
7: 142,624,724 (GRCm39) |
|
probably null |
Het |
Uba3 |
A |
T |
6: 97,182,512 (GRCm39) |
M1K |
probably null |
Het |
Usp32 |
GAACAAGTCCACAACAA |
GAACAA |
11: 84,913,681 (GRCm39) |
|
probably null |
Het |
Wnt11 |
T |
C |
7: 98,496,588 (GRCm39) |
M176T |
possibly damaging |
Het |
Wrn |
C |
T |
8: 33,814,346 (GRCm39) |
G366D |
probably benign |
Het |
Xylt1 |
T |
A |
7: 117,255,807 (GRCm39) |
I793N |
probably damaging |
Het |
Zfp677 |
T |
G |
17: 21,618,679 (GRCm39) |
C579G |
probably damaging |
Het |
Zscan4-ps1 |
T |
A |
7: 10,799,626 (GRCm39) |
K421M |
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 |
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 |
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'- GTGATCATTATTCATCAGACCCTCCTG -3'
(R):5'- AGGCCTTGCTTTCTGTTGTC -3'
Sequencing Primer
(F):5'- CCTCCTGGTTGGTTTGAGTTTACAC -3'
(R):5'- CCTGACAAGTTAGCATGTATGGTCC -3'
|
Posted On |
2019-06-26 |