Incidental Mutation 'R6725:Pja2'
| ID |
529842 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pja2
|
| Ensembl Gene |
ENSMUSG00000024083 |
| Gene Name |
praja ring finger ubiquitin ligase 2 |
| Synonyms |
Neurodap1 |
| MMRRC Submission |
044843-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6725 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
64588001-64638878 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 64596962 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 514
(M514K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133730
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024888]
[ENSMUST00000024889]
[ENSMUST00000172733]
[ENSMUST00000172818]
|
| AlphaFold |
Q80U04 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024888
AA Change: M576K
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000024888
Gene: ENSMUSG00000024083
AA Change: M576K
| 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: M514K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000024889
Gene: ENSMUSG00000024083
AA Change: M514K
| 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: M514K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133730
Gene: ENSMUSG00000024083
AA Change: M514K
| 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: M576K
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000134380
Gene: ENSMUSG00000024083
AA Change: M576K
| 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 |
0.7722 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
| Validation Efficiency |
100% (55/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts18 |
T |
C |
8: 114,469,833 (GRCm39) |
Y623C |
probably damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,585,676 (GRCm39) |
E4596G |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,641,329 (GRCm39) |
C3267S |
probably damaging |
Het |
| Ankrd40 |
T |
G |
11: 94,225,641 (GRCm39) |
V224G |
probably benign |
Het |
| Ap3s2 |
C |
T |
7: 79,570,390 (GRCm39) |
|
probably benign |
Het |
| Apip |
T |
A |
2: 102,922,870 (GRCm39) |
D229E |
possibly damaging |
Het |
| Atp2b4 |
C |
T |
1: 133,634,725 (GRCm39) |
R1168H |
probably benign |
Het |
| Bcan |
T |
C |
3: 87,902,791 (GRCm39) |
K329R |
possibly damaging |
Het |
| Camk1g |
T |
C |
1: 193,032,628 (GRCm39) |
D261G |
possibly damaging |
Het |
| Ccdc30 |
T |
A |
4: 119,188,796 (GRCm39) |
Q490L |
probably damaging |
Het |
| Ccdc83 |
A |
G |
7: 89,896,261 (GRCm39) |
W103R |
probably damaging |
Het |
| Ctsl |
T |
A |
13: 64,514,437 (GRCm39) |
R69* |
probably null |
Het |
| Dchs1 |
C |
T |
7: 105,408,000 (GRCm39) |
R1944H |
probably damaging |
Het |
| Fgb |
T |
C |
3: 82,951,098 (GRCm39) |
Y305C |
probably damaging |
Het |
| Fras1 |
T |
A |
5: 96,929,199 (GRCm39) |
Y3868N |
possibly damaging |
Het |
| Gal3st2 |
T |
A |
1: 93,801,424 (GRCm39) |
S27T |
probably benign |
Het |
| Galnt13 |
A |
G |
2: 54,745,244 (GRCm39) |
D228G |
probably damaging |
Het |
| Gk5 |
A |
T |
9: 96,037,523 (GRCm39) |
T346S |
probably benign |
Het |
| Gnrhr |
T |
C |
5: 86,333,172 (GRCm39) |
I233V |
probably damaging |
Het |
| Greb1 |
T |
C |
12: 16,738,568 (GRCm39) |
Y1465C |
probably damaging |
Het |
| H6pd |
A |
G |
4: 150,080,815 (GRCm39) |
L10P |
probably damaging |
Het |
| Hspg2 |
G |
A |
4: 137,242,618 (GRCm39) |
G611E |
probably damaging |
Het |
| Ighv7-4 |
A |
T |
12: 114,186,489 (GRCm39) |
D94E |
probably damaging |
Het |
| Lamb3 |
T |
C |
1: 192,986,890 (GRCm39) |
Y59H |
probably benign |
Het |
| Msantd1 |
C |
T |
5: 35,078,765 (GRCm39) |
T100I |
probably damaging |
Het |
| Msx3 |
T |
A |
7: 139,628,659 (GRCm39) |
|
probably benign |
Het |
| Mttp |
C |
A |
3: 137,812,999 (GRCm39) |
A559S |
probably damaging |
Het |
| Myh1 |
C |
G |
11: 67,092,719 (GRCm39) |
D4E |
probably damaging |
Het |
| Or2ah1 |
A |
G |
2: 85,654,134 (GRCm39) |
K273R |
probably damaging |
Het |
| Or4c116 |
G |
T |
2: 88,942,640 (GRCm39) |
T72N |
possibly damaging |
Het |
| Or4k45 |
C |
T |
2: 111,395,252 (GRCm39) |
C179Y |
probably damaging |
Het |
| Or52e19 |
A |
T |
7: 102,959,561 (GRCm39) |
D211V |
probably damaging |
Het |
| Pcdhac1 |
T |
C |
18: 37,223,381 (GRCm39) |
Y65H |
probably damaging |
Het |
| Pcdhga8 |
A |
T |
18: 37,860,315 (GRCm39) |
Y457F |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,194,846 (GRCm39) |
L184P |
possibly damaging |
Het |
| Plcxd2 |
T |
C |
16: 45,792,488 (GRCm39) |
N284D |
probably damaging |
Het |
| Polr3d |
A |
T |
14: 70,678,577 (GRCm39) |
M129K |
probably benign |
Het |
| Ppp1r42 |
T |
G |
1: 10,069,732 (GRCm39) |
E110A |
probably damaging |
Het |
| Prdm2 |
G |
A |
4: 142,859,471 (GRCm39) |
T1273M |
possibly damaging |
Het |
| Prelid2 |
A |
G |
18: 42,045,514 (GRCm39) |
I132T |
possibly damaging |
Het |
| Sergef |
G |
A |
7: 46,282,091 (GRCm39) |
|
probably null |
Het |
| Slc24a2 |
C |
A |
4: 87,145,119 (GRCm39) |
|
probably null |
Het |
| Stxbp3 |
A |
T |
3: 108,734,916 (GRCm39) |
D24E |
possibly damaging |
Het |
| Tas2r123 |
A |
T |
6: 132,824,801 (GRCm39) |
M233L |
probably damaging |
Het |
| Thsd7a |
G |
A |
6: 12,555,630 (GRCm39) |
H85Y |
possibly damaging |
Het |
| Tlr2 |
T |
A |
3: 83,745,603 (GRCm39) |
E160V |
probably benign |
Het |
| Tmem171 |
A |
T |
13: 98,828,678 (GRCm39) |
C157* |
probably null |
Het |
| Trpm3 |
T |
C |
19: 22,903,392 (GRCm39) |
Y1051H |
probably damaging |
Het |
| Vmn2r28 |
A |
G |
7: 5,491,408 (GRCm39) |
F280L |
probably benign |
Het |
| Xpo7 |
A |
T |
14: 70,914,253 (GRCm39) |
Y748N |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,436,782 (GRCm39) |
S2024G |
unknown |
Het |
| Zfhx2 |
A |
T |
14: 55,301,539 (GRCm39) |
Y2148* |
probably null |
Het |
| Zscan4-ps1 |
T |
C |
7: 10,799,906 (GRCm39) |
T328A |
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 |
|
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'- TGTGTCCCACTGCTGAAAGTG -3'
(R):5'- TCTTTGGTCCATAGAATTCACATGC -3'
Sequencing Primer
(F):5'- CCCACTGCTGAAAGTGTGCAATG -3'
(R):5'- GCTTGCAAAATTTGTACAGCCTACC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation