Incidental Mutation 'R7389:Pja2'
ID |
573330 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pja2
|
Ensembl Gene |
ENSMUSG00000024083 |
Gene Name |
praja ring finger ubiquitin ligase 2 |
Synonyms |
Neurodap1 |
MMRRC Submission |
045471-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7389 (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 A
at 64604722 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 487
(E487V)
|
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: E487V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000024888 Gene: ENSMUSG00000024083 AA Change: E487V
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
|
SMART Domains |
Protein: ENSMUSP00000024889 Gene: ENSMUSG00000024083
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
|
SMART Domains |
Protein: ENSMUSP00000133730 Gene: ENSMUSG00000024083
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: E487V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134380 Gene: ENSMUSG00000024083 AA Change: E487V
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 |
0.0671 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
98% (49/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anxa11 |
C |
A |
14: 25,873,312 (GRCm39) |
P182Q |
probably damaging |
Het |
Asns |
C |
A |
6: 7,689,291 (GRCm39) |
L70F |
probably damaging |
Het |
Cntrl |
A |
T |
2: 35,017,529 (GRCm39) |
K445N |
probably benign |
Het |
Cyp2c50 |
G |
T |
19: 40,079,107 (GRCm39) |
R150L |
probably benign |
Het |
Dqx1 |
G |
T |
6: 83,041,775 (GRCm39) |
S539I |
probably null |
Het |
Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
Epha3 |
T |
C |
16: 63,593,347 (GRCm39) |
E247G |
probably damaging |
Het |
Etl4 |
C |
T |
2: 20,789,904 (GRCm39) |
Q801* |
probably null |
Het |
Fabp2 |
G |
T |
3: 122,689,014 (GRCm39) |
|
probably benign |
Het |
Fsip2 |
G |
A |
2: 82,819,140 (GRCm39) |
V4958I |
possibly damaging |
Het |
Fstl3 |
G |
A |
10: 79,615,865 (GRCm39) |
C117Y |
probably damaging |
Het |
Hdgfl2 |
T |
G |
17: 56,406,389 (GRCm39) |
|
probably null |
Het |
Igfn1 |
T |
C |
1: 135,894,785 (GRCm39) |
D1927G |
probably benign |
Het |
Ino80 |
A |
C |
2: 119,273,010 (GRCm39) |
S489A |
probably benign |
Het |
Krt15 |
A |
T |
11: 100,026,386 (GRCm39) |
V100E |
possibly damaging |
Het |
Lrriq3 |
A |
G |
3: 154,893,741 (GRCm39) |
T481A |
probably benign |
Het |
Map2k3 |
A |
T |
11: 60,822,862 (GRCm39) |
|
probably benign |
Het |
Matr3 |
A |
G |
18: 35,717,638 (GRCm39) |
T617A |
probably benign |
Het |
Mybpc2 |
T |
G |
7: 44,155,028 (GRCm39) |
T960P |
probably benign |
Het |
Ncoa2 |
T |
C |
1: 13,257,049 (GRCm39) |
N150S |
possibly damaging |
Het |
Nup153 |
A |
T |
13: 46,854,463 (GRCm39) |
|
probably null |
Het |
Obscn |
A |
G |
11: 58,927,226 (GRCm39) |
L5498P |
probably benign |
Het |
Or5b21 |
G |
T |
19: 12,839,981 (GRCm39) |
V281L |
probably benign |
Het |
Or5v1b |
A |
G |
17: 37,841,548 (GRCm39) |
R227G |
possibly damaging |
Het |
Paqr8 |
C |
A |
1: 21,005,389 (GRCm39) |
P181Q |
probably damaging |
Het |
Pcdhgb4 |
T |
C |
18: 37,855,416 (GRCm39) |
Y604H |
probably damaging |
Het |
Pnpla6 |
C |
T |
8: 3,593,981 (GRCm39) |
R1331* |
probably null |
Het |
Ppl |
T |
A |
16: 4,924,577 (GRCm39) |
|
probably null |
Het |
Rhbdl3 |
T |
A |
11: 80,237,665 (GRCm39) |
M299K |
possibly damaging |
Het |
Scart1 |
A |
G |
7: 139,808,704 (GRCm39) |
K872E |
possibly damaging |
Het |
Slc26a9 |
A |
G |
1: 131,696,986 (GRCm39) |
*791W |
probably null |
Het |
Slc7a2 |
A |
G |
8: 41,365,552 (GRCm39) |
Y461C |
probably benign |
Het |
Sptb |
G |
T |
12: 76,671,003 (GRCm39) |
Q447K |
probably damaging |
Het |
Ssh1 |
A |
T |
5: 114,096,892 (GRCm39) |
I205N |
probably benign |
Het |
Stab1 |
C |
T |
14: 30,869,196 (GRCm39) |
V1511I |
probably benign |
Het |
Tex19.1 |
T |
C |
11: 121,037,986 (GRCm39) |
W115R |
possibly damaging |
Het |
Tinf2 |
G |
T |
14: 55,918,167 (GRCm39) |
|
probably null |
Het |
Tmeff1 |
A |
G |
4: 48,617,097 (GRCm39) |
|
probably null |
Het |
Tnip2 |
G |
T |
5: 34,671,145 (GRCm39) |
Q33K |
probably benign |
Het |
Traf3 |
C |
A |
12: 111,204,187 (GRCm39) |
L59M |
probably damaging |
Het |
Trav14d-3-dv8 |
T |
C |
14: 53,316,328 (GRCm39) |
Y63H |
possibly damaging |
Het |
Trim11 |
C |
T |
11: 58,881,481 (GRCm39) |
S458L |
probably damaging |
Het |
Tspan18 |
A |
T |
2: 93,040,272 (GRCm39) |
V161E |
probably benign |
Het |
Usf3 |
T |
A |
16: 44,038,304 (GRCm39) |
V928E |
probably benign |
Het |
Usp29 |
G |
A |
7: 6,966,457 (GRCm39) |
V767I |
possibly damaging |
Het |
Usp34 |
T |
G |
11: 23,295,200 (GRCm39) |
F287L |
|
Het |
Vmn1r213 |
T |
C |
13: 23,196,556 (GRCm39) |
C380R |
probably benign |
Het |
Zfyve9 |
A |
G |
4: 108,550,515 (GRCm39) |
|
probably null |
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 |
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 |
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'- GAATTGCTAGCATGGAAGCG -3'
(R):5'- GCCCATAATGACTCCATCTGAC -3'
Sequencing Primer
(F):5'- TGGAAGCGTGTCCCCTACAAAG -3'
(R):5'- CAGTTCAGAGTGCAGTGATGG -3'
|
Posted On |
2019-09-13 |