Incidental Mutation 'R8700:Pja2'
| ID |
669026 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pja2
|
| Ensembl Gene |
ENSMUSG00000024083 |
| Gene Name |
praja ring finger ubiquitin ligase 2 |
| Synonyms |
Neurodap1 |
| MMRRC Submission |
068554-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8700 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
64588001-64638878 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 64599949 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 512
(D512N)
|
| 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: D512N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000024888
Gene: ENSMUSG00000024083
AA Change: D512N
| 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 damaging
Transcript: ENSMUST00000024889
AA Change: D450N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024889
Gene: ENSMUSG00000024083
AA Change: D450N
| 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: ENSMUST00000172733
AA Change: D450N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133730
Gene: ENSMUSG00000024083
AA Change: D450N
| 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: D512N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134380
Gene: ENSMUSG00000024083
AA Change: D512N
| 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 |
0.2342 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
98% (59/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933414I15Rik |
T |
A |
11: 50,833,344 (GRCm39) |
D86V |
unknown |
Het |
| Abtb2 |
C |
A |
2: 103,397,289 (GRCm39) |
T73K |
probably damaging |
Het |
| Akr1c14 |
T |
C |
13: 4,131,157 (GRCm39) |
|
probably benign |
Het |
| Anapc7 |
T |
A |
5: 122,560,669 (GRCm39) |
M10K |
probably damaging |
Het |
| Ano7 |
T |
G |
1: 93,316,329 (GRCm39) |
I204S |
probably damaging |
Het |
| Arhgef39 |
T |
A |
4: 43,496,715 (GRCm39) |
Q333L |
probably benign |
Het |
| Art5 |
T |
C |
7: 101,748,862 (GRCm39) |
|
probably benign |
Het |
| Asah1 |
T |
C |
8: 41,813,312 (GRCm39) |
T34A |
probably benign |
Het |
| Atp9b |
T |
C |
18: 80,796,361 (GRCm39) |
E894G |
|
Het |
| Atxn7l3 |
A |
T |
11: 102,184,747 (GRCm39) |
M126K |
possibly damaging |
Het |
| Cacna2d4 |
A |
G |
6: 119,258,654 (GRCm39) |
D580G |
probably damaging |
Het |
| Calcoco2 |
T |
A |
11: 95,994,330 (GRCm39) |
K74N |
probably benign |
Het |
| Ccdc163 |
T |
C |
4: 116,571,348 (GRCm39) |
|
probably null |
Het |
| Cep164 |
T |
C |
9: 45,686,667 (GRCm39) |
|
probably null |
Het |
| Chd7 |
T |
A |
4: 8,833,892 (GRCm39) |
N1215K |
probably damaging |
Het |
| Chsy3 |
T |
C |
18: 59,309,487 (GRCm39) |
Y247H |
probably damaging |
Het |
| Clec16a |
A |
G |
16: 10,506,422 (GRCm39) |
Y714C |
probably damaging |
Het |
| Col12a1 |
A |
G |
9: 79,527,371 (GRCm39) |
V2653A |
probably benign |
Het |
| Daam2 |
T |
A |
17: 49,803,180 (GRCm39) |
K77N |
probably damaging |
Het |
| Dhx35 |
T |
A |
2: 158,682,552 (GRCm39) |
M495K |
possibly damaging |
Het |
| Disp2 |
T |
A |
2: 118,620,340 (GRCm39) |
C357* |
probably null |
Het |
| Dnah6 |
T |
A |
6: 73,052,873 (GRCm39) |
|
probably benign |
Het |
| Dnah7a |
T |
G |
1: 53,535,088 (GRCm39) |
D2724A |
possibly damaging |
Het |
| Entpd5 |
A |
T |
12: 84,443,508 (GRCm39) |
D53E |
probably damaging |
Het |
| Fto |
T |
A |
8: 92,249,461 (GRCm39) |
I431N |
probably damaging |
Het |
| Gabrr2 |
T |
C |
4: 33,095,488 (GRCm39) |
I459T |
probably damaging |
Het |
| Gm5565 |
T |
A |
5: 146,097,236 (GRCm39) |
I29F |
probably damaging |
Het |
| Gm9195 |
C |
T |
14: 72,720,171 (GRCm39) |
G87R |
probably damaging |
Het |
| Grin2a |
T |
C |
16: 9,397,412 (GRCm39) |
S892G |
probably benign |
Het |
| Katnip |
A |
G |
7: 125,429,042 (GRCm39) |
|
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,307,436 (GRCm39) |
N106S |
|
Het |
| Myo16 |
T |
C |
8: 10,463,172 (GRCm39) |
S580P |
unknown |
Het |
| Neo1 |
A |
G |
9: 58,825,913 (GRCm39) |
S672P |
probably benign |
Het |
| Nxph3 |
A |
T |
11: 95,401,706 (GRCm39) |
V236E |
probably damaging |
Het |
| Or10j7 |
G |
T |
1: 173,011,429 (GRCm39) |
P191T |
probably benign |
Het |
| Or7e171-ps1 |
A |
C |
9: 19,852,996 (GRCm39) |
L247V |
unknown |
Het |
| Pcdhb14 |
T |
C |
18: 37,582,652 (GRCm39) |
V586A |
probably damaging |
Het |
| Peg10 |
T |
TCCA |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Ppfibp2 |
A |
G |
7: 107,345,602 (GRCm39) |
T875A |
possibly damaging |
Het |
| Ppp3cc |
C |
A |
14: 70,474,001 (GRCm39) |
C332F |
probably damaging |
Het |
| Pramel16 |
T |
A |
4: 143,675,701 (GRCm39) |
H375L |
possibly damaging |
Het |
| Psg18 |
A |
T |
7: 18,087,550 (GRCm39) |
V36D |
probably damaging |
Het |
| Ptprh |
A |
G |
7: 4,567,190 (GRCm39) |
S561P |
probably damaging |
Het |
| Rhbdf2 |
G |
A |
11: 116,498,230 (GRCm39) |
|
probably benign |
Het |
| Ripk2 |
T |
A |
4: 16,158,422 (GRCm39) |
N61I |
possibly damaging |
Het |
| Setdb2 |
T |
C |
14: 59,654,888 (GRCm39) |
Y318C |
probably damaging |
Het |
| Shc1 |
A |
G |
3: 89,334,740 (GRCm39) |
D533G |
possibly damaging |
Het |
| Sirpb1a |
T |
C |
3: 15,476,419 (GRCm39) |
E193G |
probably damaging |
Het |
| Slc41a2 |
T |
C |
10: 83,152,097 (GRCm39) |
E126G |
probably damaging |
Het |
| Spata31h1 |
A |
T |
10: 82,127,859 (GRCm39) |
I1717N |
possibly damaging |
Het |
| Srms |
C |
A |
2: 180,848,521 (GRCm39) |
A413S |
probably damaging |
Het |
| Tob2 |
G |
T |
15: 81,735,802 (GRCm39) |
R56S |
probably damaging |
Het |
| Unc119 |
T |
C |
11: 78,238,137 (GRCm39) |
I105T |
probably benign |
Het |
| Unc13c |
T |
C |
9: 73,479,679 (GRCm39) |
I1742V |
probably benign |
Het |
| Vmn1r46 |
C |
T |
6: 89,953,325 (GRCm39) |
T58I |
probably benign |
Het |
| Vmn2r81 |
G |
T |
10: 79,129,517 (GRCm39) |
V803F |
probably damaging |
Het |
| Zfp365 |
T |
C |
10: 67,745,535 (GRCm39) |
K81R |
possibly damaging |
Het |
| Zfp974 |
G |
T |
7: 27,609,472 (GRCm39) |
T751K |
possibly damaging |
Het |
| Zfpl1 |
T |
C |
19: 6,132,464 (GRCm39) |
N149S |
probably benign |
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 |
|
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 |
|
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'- CAGAAGCAGCTCCTATAGTCTC -3'
(R):5'- GCAGATAAGGAAAACAGCCATTTTG -3'
Sequencing Primer
(F):5'- TAGTCTCCTCAGCGGTAACTAAG -3'
(R):5'- GCCATTTTGAATCCTGAGTACCAAGG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation