Incidental Mutation 'R6650:Pja2'
ID |
527759 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pja2
|
Ensembl Gene |
ENSMUSG00000024083 |
Gene Name |
praja ring finger ubiquitin ligase 2 |
Synonyms |
Neurodap1 |
MMRRC Submission |
044771-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6650 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
64588001-64638878 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 64599936 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 516
(E516G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134380
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024888]
[ENSMUST00000024889]
[ENSMUST00000172733]
[ENSMUST00000172818]
|
AlphaFold |
Q80U04 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000024888
AA Change: E516G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000024888 Gene: ENSMUSG00000024083 AA Change: E516G
Domain | Start | End | E-Value | Type |
low complexity region
|
532 |
548 |
N/A |
INTRINSIC |
RING
|
633 |
673 |
3.84e-6 |
SMART |
low complexity region
|
678 |
703 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024889
AA Change: E454G
PolyPhen 2
Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000024889 Gene: ENSMUSG00000024083 AA Change: E454G
Domain | Start | End | E-Value | Type |
low complexity region
|
470 |
486 |
N/A |
INTRINSIC |
RING
|
571 |
611 |
3.84e-6 |
SMART |
low complexity region
|
616 |
641 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172733
AA Change: E454G
PolyPhen 2
Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000133730 Gene: ENSMUSG00000024083 AA Change: E454G
Domain | Start | End | E-Value | Type |
low complexity region
|
470 |
486 |
N/A |
INTRINSIC |
RING
|
571 |
611 |
3.84e-6 |
SMART |
low complexity region
|
616 |
641 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000172818
AA Change: E516G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134380 Gene: ENSMUSG00000024083 AA Change: E516G
Domain | Start | End | E-Value | Type |
low complexity region
|
532 |
548 |
N/A |
INTRINSIC |
RING
|
633 |
673 |
3.84e-6 |
SMART |
low complexity region
|
678 |
703 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.1319 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
Validation Efficiency |
100% (44/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl3 |
A |
G |
1: 78,659,639 (GRCm39) |
N97S |
probably benign |
Het |
Aph1a |
T |
C |
3: 95,803,598 (GRCm39) |
V220A |
probably benign |
Het |
Bin2 |
T |
A |
15: 100,567,301 (GRCm39) |
Q25L |
probably damaging |
Het |
Ccdc102a |
T |
C |
8: 95,639,892 (GRCm39) |
E134G |
probably benign |
Het |
Cdh6 |
A |
G |
15: 13,051,487 (GRCm39) |
V382A |
probably benign |
Het |
Cep135 |
T |
A |
5: 76,781,548 (GRCm39) |
V845E |
possibly damaging |
Het |
Cngb3 |
T |
C |
4: 19,364,168 (GRCm39) |
L124P |
probably damaging |
Het |
Cped1 |
A |
G |
6: 22,233,975 (GRCm39) |
N725S |
probably damaging |
Het |
Dcn |
C |
A |
10: 97,343,605 (GRCm39) |
N188K |
probably benign |
Het |
Dnah7c |
C |
A |
1: 46,688,500 (GRCm39) |
T1890K |
probably benign |
Het |
Dnah7c |
A |
G |
1: 46,688,511 (GRCm39) |
S1894G |
probably benign |
Het |
Eef2 |
CCC |
CCCC |
10: 81,014,602 (GRCm39) |
|
probably null |
Het |
Ercc3 |
C |
T |
18: 32,394,389 (GRCm39) |
R590C |
probably damaging |
Het |
Fchsd1 |
A |
T |
18: 38,099,555 (GRCm39) |
L213* |
probably null |
Het |
Fmod |
A |
G |
1: 133,968,745 (GRCm39) |
S262G |
probably benign |
Het |
Gm45861 |
T |
C |
8: 27,995,043 (GRCm39) |
S530P |
unknown |
Het |
Ifih1 |
T |
C |
2: 62,436,791 (GRCm39) |
D544G |
possibly damaging |
Het |
Itpr1 |
A |
G |
6: 108,371,034 (GRCm39) |
|
probably null |
Het |
Larp1 |
CA |
CAA |
11: 57,949,422 (GRCm39) |
|
probably null |
Het |
Lbp |
T |
A |
2: 158,151,587 (GRCm39) |
S102R |
probably benign |
Het |
Lepr |
C |
A |
4: 101,672,398 (GRCm39) |
Q1141K |
probably damaging |
Het |
Mcm8 |
C |
A |
2: 132,663,327 (GRCm39) |
N148K |
probably benign |
Het |
Mcpt4 |
T |
G |
14: 56,298,090 (GRCm39) |
T154P |
possibly damaging |
Het |
Mrpl22 |
A |
G |
11: 58,066,134 (GRCm39) |
Y76C |
probably damaging |
Het |
Msln |
T |
C |
17: 25,969,144 (GRCm39) |
I414V |
probably benign |
Het |
Ncor1 |
G |
A |
11: 62,225,367 (GRCm39) |
T1798I |
probably damaging |
Het |
Nlrp4c |
T |
A |
7: 6,068,948 (GRCm39) |
F283Y |
probably damaging |
Het |
Os9 |
C |
T |
10: 126,935,953 (GRCm39) |
|
probably null |
Het |
Pira12 |
T |
A |
7: 3,898,632 (GRCm39) |
Q272L |
probably benign |
Het |
Pira13 |
T |
A |
7: 3,819,898 (GRCm39) |
H555L |
possibly damaging |
Het |
Pofut1 |
T |
A |
2: 153,101,270 (GRCm39) |
|
probably benign |
Het |
Prl2b1 |
G |
T |
13: 27,569,249 (GRCm39) |
H116Q |
probably benign |
Het |
Ralgapa2 |
T |
C |
2: 146,230,422 (GRCm39) |
K1048E |
probably damaging |
Het |
Scnn1b |
G |
A |
7: 121,502,043 (GRCm39) |
V234M |
probably damaging |
Het |
Sfxn3 |
G |
A |
19: 45,038,354 (GRCm39) |
|
probably null |
Het |
Sh3pxd2a |
C |
T |
19: 47,256,663 (GRCm39) |
G685D |
probably benign |
Het |
Six4 |
C |
A |
12: 73,150,299 (GRCm39) |
G749C |
probably benign |
Het |
Tnn |
G |
A |
1: 159,942,153 (GRCm39) |
T1115I |
probably damaging |
Het |
Tpcn1 |
T |
A |
5: 120,675,627 (GRCm39) |
Q779L |
probably null |
Het |
Ugt2a2 |
A |
G |
5: 87,622,459 (GRCm39) |
Y380H |
probably damaging |
Het |
Xkr8 |
T |
C |
4: 132,455,249 (GRCm39) |
T375A |
probably benign |
Het |
Zdhhc20 |
T |
A |
14: 58,096,032 (GRCm39) |
K135N |
probably damaging |
Het |
Zfp235 |
T |
A |
7: 23,836,463 (GRCm39) |
|
probably null |
Het |
Zfp354c |
A |
G |
11: 50,705,518 (GRCm39) |
V519A |
probably damaging |
Het |
|
Other mutations in Pja2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00904:Pja2
|
APN |
17 |
64,590,526 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00945:Pja2
|
APN |
17 |
64,616,391 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01347:Pja2
|
APN |
17 |
64,620,023 (GRCm39) |
missense |
probably benign |
0.34 |
IGL01831:Pja2
|
APN |
17 |
64,616,402 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01977:Pja2
|
APN |
17 |
64,604,821 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02812:Pja2
|
APN |
17 |
64,604,789 (GRCm39) |
missense |
probably damaging |
1.00 |
G1patch:Pja2
|
UTSW |
17 |
64,596,962 (GRCm39) |
missense |
probably damaging |
1.00 |
H8441:Pja2
|
UTSW |
17 |
64,618,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R0062:Pja2
|
UTSW |
17 |
64,615,966 (GRCm39) |
missense |
probably damaging |
1.00 |
R0062:Pja2
|
UTSW |
17 |
64,615,966 (GRCm39) |
missense |
probably damaging |
1.00 |
R0411:Pja2
|
UTSW |
17 |
64,594,516 (GRCm39) |
splice site |
probably benign |
|
R1240:Pja2
|
UTSW |
17 |
64,616,613 (GRCm39) |
missense |
probably benign |
0.00 |
R1528:Pja2
|
UTSW |
17 |
64,616,217 (GRCm39) |
missense |
possibly damaging |
0.75 |
R1996:Pja2
|
UTSW |
17 |
64,594,639 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2111:Pja2
|
UTSW |
17 |
64,597,031 (GRCm39) |
missense |
probably damaging |
1.00 |
R2162:Pja2
|
UTSW |
17 |
64,616,397 (GRCm39) |
missense |
probably benign |
0.00 |
R2201:Pja2
|
UTSW |
17 |
64,618,162 (GRCm39) |
splice site |
probably benign |
|
R2276:Pja2
|
UTSW |
17 |
64,599,865 (GRCm39) |
missense |
probably damaging |
1.00 |
R2278:Pja2
|
UTSW |
17 |
64,599,865 (GRCm39) |
missense |
probably damaging |
1.00 |
R3831:Pja2
|
UTSW |
17 |
64,616,397 (GRCm39) |
missense |
probably benign |
0.00 |
R3833:Pja2
|
UTSW |
17 |
64,616,397 (GRCm39) |
missense |
probably benign |
0.00 |
R4598:Pja2
|
UTSW |
17 |
64,620,025 (GRCm39) |
start codon destroyed |
probably null |
0.69 |
R4801:Pja2
|
UTSW |
17 |
64,599,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R4802:Pja2
|
UTSW |
17 |
64,599,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R4983:Pja2
|
UTSW |
17 |
64,616,053 (GRCm39) |
missense |
probably benign |
0.00 |
R5634:Pja2
|
UTSW |
17 |
64,599,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R5862:Pja2
|
UTSW |
17 |
64,604,821 (GRCm39) |
missense |
probably benign |
0.02 |
R5905:Pja2
|
UTSW |
17 |
64,616,085 (GRCm39) |
missense |
probably benign |
0.26 |
R6028:Pja2
|
UTSW |
17 |
64,616,085 (GRCm39) |
missense |
probably benign |
0.26 |
R6382:Pja2
|
UTSW |
17 |
64,616,610 (GRCm39) |
missense |
probably benign |
0.07 |
R6725:Pja2
|
UTSW |
17 |
64,596,962 (GRCm39) |
missense |
probably damaging |
1.00 |
R6976:Pja2
|
UTSW |
17 |
64,615,954 (GRCm39) |
missense |
probably damaging |
1.00 |
R7250:Pja2
|
UTSW |
17 |
64,616,451 (GRCm39) |
missense |
probably benign |
0.01 |
R7389:Pja2
|
UTSW |
17 |
64,604,722 (GRCm39) |
missense |
probably damaging |
1.00 |
R7477:Pja2
|
UTSW |
17 |
64,616,640 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7549:Pja2
|
UTSW |
17 |
64,616,410 (GRCm39) |
missense |
probably damaging |
0.98 |
R8405:Pja2
|
UTSW |
17 |
64,616,505 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8458:Pja2
|
UTSW |
17 |
64,599,843 (GRCm39) |
missense |
probably damaging |
1.00 |
R8700:Pja2
|
UTSW |
17 |
64,599,949 (GRCm39) |
missense |
probably damaging |
1.00 |
R9128:Pja2
|
UTSW |
17 |
64,616,470 (GRCm39) |
missense |
probably benign |
|
R9336:Pja2
|
UTSW |
17 |
64,590,432 (GRCm39) |
missense |
unknown |
|
R9356:Pja2
|
UTSW |
17 |
64,618,204 (GRCm39) |
missense |
probably damaging |
1.00 |
R9658:Pja2
|
UTSW |
17 |
64,599,868 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Pja2
|
UTSW |
17 |
64,599,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACAGTGACATCTGCGATGG -3'
(R):5'- ATCCTGAGTACCAAGGACTTAAAAC -3'
Sequencing Primer
(F):5'- GGAACCTCAGCTCGCCTAG -3'
(R):5'- GAGTACCAAGGACTTAAAACAACAAG -3'
|
Posted On |
2018-07-23 |