Incidental Mutation 'R3831:Pja2'
ID |
274028 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pja2
|
Ensembl Gene |
ENSMUSG00000024083 |
Gene Name |
praja ring finger ubiquitin ligase 2 |
Synonyms |
Neurodap1 |
MMRRC Submission |
040777-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3831 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
64588001-64638878 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 64616397 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 166
(D166G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134380
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024888]
[ENSMUST00000024889]
[ENSMUST00000172733]
[ENSMUST00000172818]
|
AlphaFold |
Q80U04 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024888
AA Change: D166G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000024888 Gene: ENSMUSG00000024083 AA Change: D166G
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 |
probably benign
Transcript: ENSMUST00000024889
AA Change: D166G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000024889 Gene: ENSMUSG00000024083 AA Change: D166G
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 benign
Transcript: ENSMUST00000172733
AA Change: D166G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000133730 Gene: ENSMUSG00000024083 AA Change: D166G
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 benign
Transcript: ENSMUST00000172818
AA Change: D166G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000134380 Gene: ENSMUSG00000024083 AA Change: D166G
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 |
0.5191 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930563M21Rik |
T |
C |
9: 55,880,992 (GRCm39) |
T527A |
unknown |
Het |
Bcat1 |
T |
A |
6: 144,955,834 (GRCm39) |
D349V |
probably damaging |
Het |
Cacna1c |
A |
G |
6: 118,581,424 (GRCm39) |
S1727P |
probably benign |
Het |
Cacnb2 |
A |
T |
2: 14,986,236 (GRCm39) |
I338F |
probably damaging |
Het |
Cemip2 |
T |
G |
19: 21,825,315 (GRCm39) |
S1204R |
probably damaging |
Het |
Cibar2 |
T |
A |
8: 120,901,633 (GRCm39) |
Y24F |
probably damaging |
Het |
Cyb5d2 |
G |
T |
11: 72,686,349 (GRCm39) |
S80R |
possibly damaging |
Het |
Cyfip2 |
T |
C |
11: 46,152,333 (GRCm39) |
D485G |
probably benign |
Het |
Cyp27b1 |
G |
T |
10: 126,886,929 (GRCm39) |
V382L |
probably damaging |
Het |
Dpp9 |
A |
T |
17: 56,506,113 (GRCm39) |
F429I |
possibly damaging |
Het |
Frmd4b |
T |
A |
6: 97,389,486 (GRCm39) |
K73* |
probably null |
Het |
Hao1 |
A |
T |
2: 134,364,925 (GRCm39) |
V234D |
probably damaging |
Het |
Hkdc1 |
T |
C |
10: 62,235,991 (GRCm39) |
Y517C |
probably benign |
Het |
Iglv2 |
A |
T |
16: 19,079,593 (GRCm39) |
M1K |
probably null |
Het |
Inpp5j |
T |
C |
11: 3,450,229 (GRCm39) |
D228G |
probably damaging |
Het |
Itih5 |
A |
G |
2: 10,256,081 (GRCm39) |
D849G |
possibly damaging |
Het |
Itpkb |
T |
C |
1: 180,161,260 (GRCm39) |
V462A |
probably benign |
Het |
Kif26b |
GAAA |
GAA |
1: 178,744,181 (GRCm39) |
|
probably null |
Het |
Kremen1 |
G |
GGGC |
11: 5,151,794 (GRCm39) |
|
probably benign |
Het |
Lzic |
G |
C |
4: 149,573,185 (GRCm39) |
E112D |
probably null |
Het |
Mageh1 |
A |
T |
X: 151,820,004 (GRCm39) |
W111R |
probably damaging |
Het |
Mapk7 |
A |
G |
11: 61,380,680 (GRCm39) |
S641P |
possibly damaging |
Het |
Mapt |
A |
T |
11: 104,177,961 (GRCm39) |
Q38L |
possibly damaging |
Het |
Med12 |
C |
A |
X: 100,339,498 (GRCm39) |
P2037Q |
possibly damaging |
Het |
Med22 |
A |
G |
2: 26,800,379 (GRCm39) |
S17P |
probably damaging |
Het |
Melk |
C |
A |
4: 44,345,021 (GRCm39) |
Q384K |
probably benign |
Het |
Morc2b |
C |
T |
17: 33,356,233 (GRCm39) |
S513N |
probably benign |
Het |
Nap1l3 |
A |
G |
X: 121,305,995 (GRCm39) |
V241A |
possibly damaging |
Het |
Or2t45 |
T |
A |
11: 58,669,571 (GRCm39) |
|
probably null |
Het |
Or56a4 |
A |
G |
7: 104,806,589 (GRCm39) |
F100S |
probably damaging |
Het |
Or9e1 |
T |
G |
11: 58,732,686 (GRCm39) |
F249V |
probably damaging |
Het |
Pdgfd |
T |
C |
9: 6,359,762 (GRCm39) |
S278P |
probably damaging |
Het |
Pgc |
C |
A |
17: 48,040,236 (GRCm39) |
F93L |
probably null |
Het |
Phf14 |
A |
G |
6: 11,933,873 (GRCm39) |
|
probably null |
Het |
Rgs5 |
A |
G |
1: 169,504,470 (GRCm39) |
Y40C |
probably benign |
Het |
Rsad1 |
A |
G |
11: 94,434,130 (GRCm39) |
V366A |
probably benign |
Het |
S100a10 |
T |
C |
3: 93,471,680 (GRCm39) |
V88A |
probably damaging |
Het |
Scarf1 |
T |
C |
11: 75,406,078 (GRCm39) |
C121R |
probably damaging |
Het |
Scn7a |
A |
G |
2: 66,528,028 (GRCm39) |
S821P |
probably damaging |
Het |
Sco1 |
T |
C |
11: 66,944,605 (GRCm39) |
V76A |
probably damaging |
Het |
Selp |
T |
A |
1: 163,959,849 (GRCm39) |
C368* |
probably null |
Het |
Sema3e |
T |
A |
5: 14,276,496 (GRCm39) |
C294S |
probably damaging |
Het |
Slit3 |
A |
T |
11: 35,579,509 (GRCm39) |
S1229C |
probably null |
Het |
Smarca5 |
A |
T |
8: 81,455,123 (GRCm39) |
N199K |
probably damaging |
Het |
Sorbs2 |
A |
T |
8: 46,248,132 (GRCm39) |
D442V |
probably damaging |
Het |
Specc1 |
T |
A |
11: 62,008,793 (GRCm39) |
I183N |
probably damaging |
Het |
Tcerg1 |
G |
T |
18: 42,701,554 (GRCm39) |
R872L |
probably damaging |
Het |
Tekt1 |
T |
C |
11: 72,245,645 (GRCm39) |
N170S |
probably benign |
Het |
Thsd1 |
T |
G |
8: 22,733,132 (GRCm39) |
S60A |
possibly damaging |
Het |
Usp24 |
T |
C |
4: 106,219,209 (GRCm39) |
|
probably null |
Het |
Usp28 |
A |
G |
9: 48,946,938 (GRCm39) |
T505A |
probably benign |
Het |
Zcchc17 |
T |
C |
4: 130,232,317 (GRCm39) |
D62G |
probably benign |
Het |
Zfp445 |
T |
G |
9: 122,681,541 (GRCm39) |
E800A |
probably damaging |
Het |
Zranb1 |
C |
T |
7: 132,584,505 (GRCm39) |
A591V |
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 |
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 |
R6650:Pja2
|
UTSW |
17 |
64,599,936 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- GGTGCTGAATCTAGCTCTTCAAAC -3'
(R):5'- CTACTTGTGGTCCAGCACTG -3'
Sequencing Primer
(F):5'- CTCACTTATTTCACCGTTGAGAGAGG -3'
(R):5'- CTTGTGGTCCAGCACTGAATCAAAG -3'
|
Posted On |
2015-04-02 |