Incidental Mutation 'R5634:Pja2'
| ID |
440057 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pja2
|
| Ensembl Gene |
ENSMUSG00000024083 |
| Gene Name |
praja ring finger ubiquitin ligase 2 |
| Synonyms |
Neurodap1 |
| MMRRC Submission |
043285-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5634 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
64588001-64638878 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 64599862 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 541
(V541M)
|
| 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: V541M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024888
Gene: ENSMUSG00000024083
AA Change: V541M
| 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: V479M
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000024889
Gene: ENSMUSG00000024083
AA Change: V479M
| 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: V479M
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000133730
Gene: ENSMUSG00000024083
AA Change: V479M
| 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: V541M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134380
Gene: ENSMUSG00000024083
AA Change: V541M
| 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 |
0.0715 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
98% (60/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat1 |
T |
C |
9: 53,494,921 (GRCm39) |
|
probably benign |
Het |
| Aen |
A |
T |
7: 78,552,255 (GRCm39) |
T34S |
probably benign |
Het |
| Apoh |
T |
A |
11: 108,302,875 (GRCm39) |
V280E |
probably damaging |
Het |
| Ccdc87 |
A |
G |
19: 4,890,693 (GRCm39) |
H395R |
probably benign |
Het |
| Ccrl2 |
T |
A |
9: 110,885,055 (GRCm39) |
|
probably null |
Het |
| Cdh20 |
T |
C |
1: 104,902,800 (GRCm39) |
F497S |
probably damaging |
Het |
| Cfap54 |
C |
A |
10: 92,740,125 (GRCm39) |
|
probably benign |
Het |
| Cimap1b |
T |
A |
15: 89,262,410 (GRCm39) |
T70S |
probably benign |
Het |
| Cipc |
T |
A |
12: 86,999,749 (GRCm39) |
|
probably null |
Het |
| Col14a1 |
T |
A |
15: 55,381,694 (GRCm39) |
Y1756N |
probably damaging |
Het |
| Cyp2c54 |
G |
A |
19: 40,060,858 (GRCm39) |
A95V |
possibly damaging |
Het |
| Dcdc5 |
A |
G |
2: 106,234,325 (GRCm39) |
|
noncoding transcript |
Het |
| Dnah17 |
T |
C |
11: 117,943,752 (GRCm39) |
|
probably null |
Het |
| Eepd1 |
A |
T |
9: 25,514,849 (GRCm39) |
N552I |
probably benign |
Het |
| Eif2ak4 |
A |
T |
2: 118,292,792 (GRCm39) |
R1218W |
probably damaging |
Het |
| Fbxw18 |
T |
A |
9: 109,505,871 (GRCm39) |
I467F |
possibly damaging |
Het |
| Ffar4 |
GCTTCTT |
GCTT |
19: 38,102,373 (GRCm39) |
|
probably benign |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Gpha2 |
A |
G |
19: 6,276,890 (GRCm39) |
T25A |
probably benign |
Het |
| Grin3a |
T |
A |
4: 49,792,843 (GRCm39) |
I297F |
probably damaging |
Het |
| Herc2 |
G |
A |
7: 55,856,531 (GRCm39) |
G3924R |
probably damaging |
Het |
| Hmcn2 |
G |
T |
2: 31,223,893 (GRCm39) |
D97Y |
probably damaging |
Het |
| Igdcc4 |
G |
A |
9: 65,041,828 (GRCm39) |
G1131D |
probably benign |
Het |
| Il18rap |
T |
C |
1: 40,578,536 (GRCm39) |
|
probably benign |
Het |
| Ino80d |
C |
A |
1: 63,101,442 (GRCm39) |
|
probably benign |
Het |
| Klhl1 |
T |
C |
14: 96,477,707 (GRCm39) |
T454A |
probably damaging |
Het |
| Krt84 |
C |
A |
15: 101,437,084 (GRCm39) |
V360L |
probably benign |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Lrrc37 |
T |
C |
11: 103,432,840 (GRCm39) |
N1267S |
possibly damaging |
Het |
| Mapkbp1 |
A |
G |
2: 119,803,576 (GRCm39) |
N15S |
probably damaging |
Het |
| Med13l |
T |
C |
5: 118,698,915 (GRCm39) |
F22S |
possibly damaging |
Het |
| Mrc2 |
T |
A |
11: 105,227,040 (GRCm39) |
C548* |
probably null |
Het |
| Nacad |
T |
C |
11: 6,552,387 (GRCm39) |
E268G |
possibly damaging |
Het |
| Nfxl1 |
A |
G |
5: 72,686,833 (GRCm39) |
C527R |
probably damaging |
Het |
| Nphp1 |
A |
T |
2: 127,601,570 (GRCm39) |
C412S |
possibly damaging |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or4g16 |
A |
G |
2: 111,137,437 (GRCm39) |
I296V |
probably benign |
Het |
| Per2 |
C |
T |
1: 91,372,429 (GRCm39) |
C215Y |
probably benign |
Het |
| Pias1 |
T |
C |
9: 62,803,255 (GRCm39) |
T343A |
probably benign |
Het |
| Plxna4 |
G |
A |
6: 32,214,658 (GRCm39) |
Q608* |
probably null |
Het |
| Ppil4 |
T |
A |
10: 7,690,542 (GRCm39) |
D398E |
probably benign |
Het |
| Ppp4r3a |
T |
A |
12: 101,009,780 (GRCm39) |
D8V |
probably damaging |
Het |
| Pstk |
A |
C |
7: 130,973,072 (GRCm39) |
D57A |
probably damaging |
Het |
| Ptprd |
T |
C |
4: 75,990,255 (GRCm39) |
I53V |
probably benign |
Het |
| Pyroxd2 |
A |
G |
19: 42,728,924 (GRCm39) |
F159L |
probably benign |
Het |
| Rnf103 |
A |
G |
6: 71,486,601 (GRCm39) |
M411V |
probably benign |
Het |
| Scn4a |
T |
C |
11: 106,220,830 (GRCm39) |
D943G |
probably benign |
Het |
| Sdk2 |
T |
C |
11: 113,742,540 (GRCm39) |
T790A |
probably damaging |
Het |
| Sfr1 |
T |
C |
19: 47,722,310 (GRCm39) |
L242P |
probably damaging |
Het |
| Snx25 |
T |
C |
8: 46,494,428 (GRCm39) |
D819G |
possibly damaging |
Het |
| Sult2b1 |
A |
G |
7: 45,383,506 (GRCm39) |
V183A |
probably damaging |
Het |
| Tcf4 |
C |
A |
18: 69,769,918 (GRCm39) |
S8R |
possibly damaging |
Het |
| Ttc7 |
A |
G |
17: 87,649,515 (GRCm39) |
D531G |
probably benign |
Het |
| Uap1l1 |
A |
C |
2: 25,254,145 (GRCm39) |
C271G |
probably damaging |
Het |
| Ubtf |
T |
C |
11: 102,201,150 (GRCm39) |
Y268C |
probably damaging |
Het |
| Vinac1 |
A |
T |
2: 128,881,406 (GRCm39) |
D173E |
probably benign |
Het |
| Zfp951 |
A |
T |
5: 104,963,155 (GRCm39) |
M137K |
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 |
|
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'- TTGACATTCAAAACCAGGGCC -3'
(R):5'- TGTTTGTGTCAGGGAACAGAC -3'
Sequencing Primer
(F):5'- TCAATGCTACAAAGACGTGAAAGTC -3'
(R):5'- TCAGGGAACAGACATCCTTGG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation