Incidental Mutation 'R9356:Pja2'
ID |
708436 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pja2
|
Ensembl Gene |
ENSMUSG00000024083 |
Gene Name |
praja ring finger ubiquitin ligase 2 |
Synonyms |
Neurodap1 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9356 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
64588001-64638878 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 64618204 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 65
(V65A)
|
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: V65A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000024888 Gene: ENSMUSG00000024083 AA Change: V65A
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: V65A
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000024889 Gene: ENSMUSG00000024083 AA Change: V65A
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: V65A
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000133730 Gene: ENSMUSG00000024083 AA Change: V65A
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: V65A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000134380 Gene: ENSMUSG00000024083 AA Change: V65A
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
G |
A |
11: 9,206,305 (GRCm39) |
V202M |
probably benign |
Het |
Ago3 |
A |
T |
4: 126,264,144 (GRCm39) |
I354N |
probably damaging |
Het |
Ankrd50 |
A |
T |
3: 38,510,236 (GRCm39) |
D710E |
probably damaging |
Het |
Apba2 |
A |
T |
7: 64,345,421 (GRCm39) |
N204Y |
probably damaging |
Het |
Arrdc4 |
A |
G |
7: 68,394,627 (GRCm39) |
V139A |
possibly damaging |
Het |
Baz1b |
A |
G |
5: 135,239,653 (GRCm39) |
E251G |
probably benign |
Het |
Calcr |
T |
C |
6: 3,687,408 (GRCm39) |
D530G |
probably benign |
Het |
Chrna7 |
A |
T |
7: 62,757,437 (GRCm39) |
V154E |
probably damaging |
Het |
Cldn15 |
T |
C |
5: 136,996,968 (GRCm39) |
V3A |
probably benign |
Het |
Csmd1 |
A |
T |
8: 16,252,069 (GRCm39) |
L929Q |
probably damaging |
Het |
Ctss |
A |
C |
3: 95,454,120 (GRCm39) |
H224P |
possibly damaging |
Het |
Cyp4a12a |
C |
A |
4: 115,185,915 (GRCm39) |
H408N |
probably benign |
Het |
Gm10549 |
C |
T |
18: 33,597,375 (GRCm39) |
P54S |
unknown |
Het |
Gpr162 |
T |
C |
6: 124,838,297 (GRCm39) |
M118V |
possibly damaging |
Het |
Ifnar1 |
C |
T |
16: 91,292,367 (GRCm39) |
P207L |
probably benign |
Het |
Igfn1 |
A |
T |
1: 135,899,825 (GRCm39) |
C495* |
probably null |
Het |
Ints9 |
T |
C |
14: 65,269,770 (GRCm39) |
S487P |
probably benign |
Het |
Jmjd4 |
T |
A |
11: 59,345,761 (GRCm39) |
D280E |
probably benign |
Het |
Krtap1-4 |
G |
A |
11: 99,474,169 (GRCm39) |
Q96* |
probably null |
Het |
Ksr2 |
T |
A |
5: 117,827,706 (GRCm39) |
I495N |
probably benign |
Het |
Lama2 |
T |
A |
10: 27,088,186 (GRCm39) |
N864Y |
probably damaging |
Het |
Lce1f |
TCCACAGCAGCCACTGCTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTGCT |
TCCACAGCAGCCACTGCTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTGCT |
3: 92,626,272 (GRCm39) |
|
probably benign |
Het |
Lig4 |
A |
G |
8: 10,022,538 (GRCm39) |
V414A |
possibly damaging |
Het |
Lman2l |
A |
G |
1: 36,467,415 (GRCm39) |
F211S |
probably damaging |
Het |
Lmtk3 |
A |
G |
7: 45,443,312 (GRCm39) |
E665G |
probably damaging |
Het |
Mdm4 |
G |
A |
1: 132,938,837 (GRCm39) |
L86F |
probably damaging |
Het |
Mfsd10 |
C |
A |
5: 34,794,048 (GRCm39) |
E22* |
probably null |
Het |
Mindy1 |
C |
T |
3: 95,202,590 (GRCm39) |
L394F |
probably benign |
Het |
Mroh4 |
T |
C |
15: 74,482,760 (GRCm39) |
M735V |
probably benign |
Het |
Myo7a |
T |
A |
7: 97,725,873 (GRCm39) |
M1060L |
probably benign |
Het |
Myo7b |
C |
A |
18: 32,110,096 (GRCm39) |
S1122I |
probably damaging |
Het |
Nudt17 |
T |
A |
3: 96,613,688 (GRCm39) |
R313S |
probably damaging |
Het |
Or52n5 |
A |
G |
7: 104,588,373 (GRCm39) |
I213M |
probably benign |
Het |
Or5w15 |
T |
A |
2: 87,568,089 (GRCm39) |
Q193L |
probably benign |
Het |
Or6c65 |
T |
G |
10: 129,604,035 (GRCm39) |
I223M |
possibly damaging |
Het |
Or8h7 |
T |
A |
2: 86,720,605 (GRCm39) |
M305L |
probably benign |
Het |
Otogl |
T |
C |
10: 107,617,890 (GRCm39) |
Y1741C |
probably damaging |
Het |
Primpol |
A |
G |
8: 47,043,318 (GRCm39) |
V325A |
probably benign |
Het |
Prss36 |
T |
C |
7: 127,545,697 (GRCm39) |
|
probably benign |
Het |
Ptpn20 |
T |
G |
14: 33,352,865 (GRCm39) |
Y201* |
probably null |
Het |
Rundc3a |
T |
C |
11: 102,292,890 (GRCm39) |
S428P |
probably damaging |
Het |
Rxra |
T |
A |
2: 27,649,675 (GRCm39) |
L460Q |
probably damaging |
Het |
Sdsl |
C |
T |
5: 120,597,948 (GRCm39) |
V182M |
probably damaging |
Het |
Slc14a2 |
A |
C |
18: 78,227,823 (GRCm39) |
I226S |
probably null |
Het |
Spam1 |
T |
A |
6: 24,800,565 (GRCm39) |
C435S |
probably damaging |
Het |
Spata31h1 |
T |
C |
10: 82,125,157 (GRCm39) |
K2618E |
possibly damaging |
Het |
Stbd1 |
A |
G |
5: 92,753,277 (GRCm39) |
T256A |
possibly damaging |
Het |
Ttc39c |
T |
A |
18: 12,853,102 (GRCm39) |
|
probably null |
Het |
Uba3 |
T |
C |
6: 97,161,811 (GRCm39) |
D440G |
probably benign |
Het |
Ythdf1 |
A |
C |
2: 180,553,998 (GRCm39) |
S72R |
probably benign |
Het |
Zfp770 |
T |
C |
2: 114,026,917 (GRCm39) |
E384G |
possibly damaging |
Het |
Zfp979 |
G |
T |
4: 147,698,358 (GRCm39) |
T117K |
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 |
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 |
|
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'- TTCAGTGACTAGTCTTACTGAATCCTC -3'
(R):5'- CATAGTAAAGGTCATTGCTGGC -3'
Sequencing Primer
(F):5'- AGTCTTACTGAATCCTCTTCTGTAG -3'
(R):5'- CTAAACCAGCAGGAGGAT -3'
|
Posted On |
2022-04-18 |