Incidental Mutation 'R2278:Pja2'
| ID |
242933 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pja2
|
| Ensembl Gene |
ENSMUSG00000024083 |
| Gene Name |
praja ring finger ubiquitin ligase 2 |
| Synonyms |
Neurodap1 |
| MMRRC Submission |
040277-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2278 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
64588001-64638878 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 64599865 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 478
(S478G)
|
| 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: S540G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000024888
Gene: ENSMUSG00000024083
AA Change: S540G
| 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: S478G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024889
Gene: ENSMUSG00000024083
AA Change: S478G
| 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: S478G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133730
Gene: ENSMUSG00000024083
AA Change: S478G
| 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: S540G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000134380
Gene: ENSMUSG00000024083
AA Change: S540G
| 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 |
0.3517 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
T |
C |
8: 25,201,400 (GRCm39) |
D251G |
probably damaging |
Het |
| Aqp3 |
T |
C |
4: 41,093,836 (GRCm39) |
D219G |
probably damaging |
Het |
| Arhgef15 |
C |
A |
11: 68,842,517 (GRCm39) |
W404C |
probably damaging |
Het |
| Bdp1 |
T |
A |
13: 100,197,847 (GRCm39) |
E846V |
probably damaging |
Het |
| Bdp1 |
C |
A |
13: 100,197,838 (GRCm39) |
S849I |
probably benign |
Het |
| Bmp5 |
T |
A |
9: 75,683,830 (GRCm39) |
N152K |
possibly damaging |
Het |
| Bpifb2 |
C |
T |
2: 153,720,399 (GRCm39) |
Q53* |
probably null |
Het |
| Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
| Chd9 |
C |
T |
8: 91,760,615 (GRCm39) |
P2120L |
probably benign |
Het |
| Clca3a1 |
A |
G |
3: 144,463,785 (GRCm39) |
V164A |
probably damaging |
Het |
| Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
| Gcn1 |
T |
C |
5: 115,749,234 (GRCm39) |
I1922T |
probably damaging |
Het |
| Gnpat |
A |
G |
8: 125,603,659 (GRCm39) |
D179G |
probably benign |
Het |
| Hook1 |
A |
G |
4: 95,886,957 (GRCm39) |
Q188R |
probably benign |
Het |
| Hsf4 |
G |
A |
8: 105,996,628 (GRCm39) |
D18N |
probably null |
Het |
| Ifi44 |
T |
C |
3: 151,438,025 (GRCm39) |
N421D |
probably benign |
Het |
| Igdcc4 |
C |
T |
9: 65,038,025 (GRCm39) |
T801I |
probably damaging |
Het |
| Itgad |
T |
C |
7: 127,804,342 (GRCm39) |
S107P |
possibly damaging |
Het |
| Kank2 |
C |
A |
9: 21,681,080 (GRCm39) |
M816I |
probably damaging |
Het |
| Kcnk18 |
T |
C |
19: 59,223,926 (GRCm39) |
I357T |
probably damaging |
Het |
| Kcnma1 |
T |
A |
14: 23,593,151 (GRCm39) |
R120* |
probably null |
Het |
| Lgi4 |
T |
G |
7: 30,760,037 (GRCm39) |
L78V |
probably damaging |
Het |
| Lypla1 |
T |
G |
1: 4,911,321 (GRCm39) |
|
probably null |
Het |
| Mknk1 |
C |
T |
4: 115,732,690 (GRCm39) |
A306V |
probably damaging |
Het |
| Ncoa6 |
A |
T |
2: 155,249,570 (GRCm39) |
S1245T |
possibly damaging |
Het |
| Npas3 |
T |
A |
12: 53,687,285 (GRCm39) |
V122E |
possibly damaging |
Het |
| Nrxn2 |
G |
C |
19: 6,531,883 (GRCm39) |
Q789H |
probably damaging |
Het |
| Or2h1b |
A |
T |
17: 37,462,145 (GRCm39) |
C239* |
probably null |
Het |
| Or3a1 |
T |
C |
11: 74,225,991 (GRCm39) |
E22G |
probably benign |
Het |
| Or5p69 |
T |
C |
7: 107,967,288 (GRCm39) |
V197A |
probably benign |
Het |
| Or5w12 |
A |
G |
2: 87,502,289 (GRCm39) |
C141R |
possibly damaging |
Het |
| Otog |
G |
A |
7: 45,949,468 (GRCm39) |
V2369M |
probably damaging |
Het |
| Pfkp |
T |
C |
13: 6,669,245 (GRCm39) |
|
probably null |
Het |
| Prune2 |
A |
G |
19: 17,095,919 (GRCm39) |
I474M |
possibly damaging |
Het |
| Psg22 |
C |
A |
7: 18,460,762 (GRCm39) |
Q464K |
possibly damaging |
Het |
| Rp1 |
C |
T |
1: 4,418,250 (GRCm39) |
S954N |
possibly damaging |
Het |
| Rps27l |
T |
A |
9: 66,854,208 (GRCm39) |
D34E |
probably benign |
Het |
| Sae1 |
A |
C |
7: 16,104,291 (GRCm39) |
L106R |
probably damaging |
Het |
| Siglec1 |
T |
A |
2: 130,913,257 (GRCm39) |
Q1553L |
probably benign |
Het |
| Slc11a2 |
A |
G |
15: 100,307,962 (GRCm39) |
|
probably null |
Het |
| Slc14a2 |
A |
T |
18: 78,203,159 (GRCm39) |
M556K |
probably benign |
Het |
| Slk |
T |
G |
19: 47,608,188 (GRCm39) |
I380M |
probably damaging |
Het |
| Spink5 |
A |
G |
18: 44,119,396 (GRCm39) |
N236D |
probably benign |
Het |
| Syne2 |
A |
G |
12: 75,974,240 (GRCm39) |
E1146G |
possibly damaging |
Het |
| Tiam2 |
G |
A |
17: 3,477,495 (GRCm39) |
V573M |
probably damaging |
Het |
| Tmem170 |
C |
A |
8: 112,596,349 (GRCm39) |
V59L |
probably benign |
Het |
| Tmem255b |
C |
T |
8: 13,501,081 (GRCm39) |
A106V |
probably damaging |
Het |
| Ttc23l |
A |
G |
15: 10,523,678 (GRCm39) |
I347T |
possibly damaging |
Het |
| Vps13c |
A |
G |
9: 67,846,354 (GRCm39) |
M2141V |
probably benign |
Het |
| Vwa5a |
T |
C |
9: 38,634,503 (GRCm39) |
Y143H |
probably damaging |
Het |
| Zfp280d |
T |
A |
9: 72,246,055 (GRCm39) |
C707* |
probably null |
Het |
| Zfp668 |
A |
T |
7: 127,465,998 (GRCm39) |
N395K |
probably benign |
Het |
| Znhit6 |
G |
T |
3: 145,281,991 (GRCm39) |
|
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 |
|
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 |
|
|
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'- TGACATTCAAAACCAGGGCC -3'
(R):5'- GAATGTTTGTGTCAGGGAACAG -3'
Sequencing Primer
(F):5'- TCAATGCTACAAAGACGTGAAAGTC -3'
(R):5'- TCAGGGAACAGACATCCTTGG -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation