Incidental Mutation 'R6976:Pja2'
| ID |
542481 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pja2
|
| Ensembl Gene |
ENSMUSG00000024083 |
| Gene Name |
praja ring finger ubiquitin ligase 2 |
| Synonyms |
Neurodap1 |
| MMRRC Submission |
045382-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6976 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
64588001-64638878 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 64615954 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 314
(K314E)
|
| 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: K314E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000024888
Gene: ENSMUSG00000024083
AA Change: K314E
| 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: K314E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024889
Gene: ENSMUSG00000024083
AA Change: K314E
| 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: K314E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133730
Gene: ENSMUSG00000024083
AA Change: K314E
| 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: K314E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134380
Gene: ENSMUSG00000024083
AA Change: K314E
| 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: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
100% (50/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
T |
A |
2: 155,397,929 (GRCm39) |
|
probably null |
Het |
| Adamts4 |
G |
T |
1: 171,079,877 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
T |
A |
13: 81,669,116 (GRCm39) |
K2480M |
probably damaging |
Het |
| Ankhd1 |
A |
C |
18: 36,781,307 (GRCm39) |
S2120R |
probably benign |
Het |
| Ash1l |
T |
A |
3: 88,888,964 (GRCm39) |
V281E |
possibly damaging |
Het |
| Bdh1 |
G |
A |
16: 31,256,847 (GRCm39) |
A35T |
probably benign |
Het |
| Brpf3 |
A |
G |
17: 29,054,751 (GRCm39) |
M1098V |
probably damaging |
Het |
| Cel |
G |
A |
2: 28,446,854 (GRCm39) |
S439F |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 118,162,378 (GRCm39) |
S64G |
probably benign |
Het |
| Dpp7 |
T |
C |
2: 25,244,836 (GRCm39) |
|
probably null |
Het |
| Fam83c |
T |
A |
2: 155,672,157 (GRCm39) |
Y426F |
possibly damaging |
Het |
| Fasn |
A |
G |
11: 120,710,693 (GRCm39) |
I322T |
probably damaging |
Het |
| Glod4 |
A |
G |
11: 76,134,406 (GRCm39) |
F22S |
probably damaging |
Het |
| Gm3127 |
A |
G |
14: 15,432,190 (GRCm39) |
T231A |
possibly damaging |
Het |
| Gm49383 |
A |
G |
12: 69,243,730 (GRCm39) |
S444P |
possibly damaging |
Het |
| Gnaz |
T |
C |
10: 74,827,268 (GRCm39) |
S7P |
possibly damaging |
Het |
| Grin2b |
C |
T |
6: 135,757,198 (GRCm39) |
S421N |
probably benign |
Het |
| Grm1 |
T |
C |
10: 10,564,924 (GRCm39) |
D1128G |
probably benign |
Het |
| Hoxb13 |
A |
G |
11: 96,087,044 (GRCm39) |
T284A |
probably benign |
Het |
| Il9r |
G |
A |
11: 32,143,177 (GRCm39) |
Q260* |
probably null |
Het |
| Lrrfip1 |
T |
A |
1: 91,042,737 (GRCm39) |
C381S |
probably benign |
Het |
| Mitd1 |
A |
T |
1: 37,921,778 (GRCm39) |
D85E |
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,582,892 (GRCm39) |
D2556N |
possibly damaging |
Het |
| Nlrc4 |
A |
G |
17: 74,752,934 (GRCm39) |
I483T |
probably damaging |
Het |
| Or13e8 |
A |
G |
4: 43,697,170 (GRCm39) |
M1T |
probably null |
Het |
| Or2ag17 |
A |
T |
7: 106,389,434 (GRCm39) |
M258K |
probably damaging |
Het |
| Or8g4 |
A |
G |
9: 39,662,540 (GRCm39) |
N286S |
probably damaging |
Het |
| Pcdhb7 |
C |
A |
18: 37,476,631 (GRCm39) |
A589E |
probably benign |
Het |
| Pcdhgb5 |
G |
A |
18: 37,864,321 (GRCm39) |
E39K |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,104,159 (GRCm39) |
E276G |
possibly damaging |
Het |
| Ppp2r5c |
A |
G |
12: 110,510,579 (GRCm39) |
E122G |
probably damaging |
Het |
| Prrc2c |
A |
T |
1: 162,520,413 (GRCm39) |
N732K |
probably damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,333,126 (GRCm39) |
D1348E |
probably benign |
Het |
| Sh3rf1 |
G |
T |
8: 61,814,766 (GRCm39) |
E442* |
probably null |
Het |
| Snapc1 |
A |
G |
12: 74,016,974 (GRCm39) |
D204G |
probably damaging |
Het |
| Sry |
C |
T |
Y: 2,662,938 (GRCm39) |
D241N |
unknown |
Het |
| Strn4 |
T |
A |
7: 16,564,279 (GRCm39) |
M303K |
probably benign |
Het |
| Tas2r118 |
A |
G |
6: 23,969,470 (GRCm39) |
I197T |
probably benign |
Het |
| Tnni3k |
A |
G |
3: 154,498,413 (GRCm39) |
Y809H |
probably benign |
Het |
| Tnpo3 |
A |
T |
6: 29,572,594 (GRCm39) |
C419* |
probably null |
Het |
| Trpm6 |
T |
C |
19: 18,760,527 (GRCm39) |
S143P |
probably benign |
Het |
| Ttc23l |
A |
T |
15: 10,537,666 (GRCm39) |
C201* |
probably null |
Het |
| Ubr4 |
A |
G |
4: 139,120,388 (GRCm39) |
N271S |
probably damaging |
Het |
| Vmn1r70 |
T |
C |
7: 10,367,971 (GRCm39) |
M134T |
probably benign |
Het |
| Vmn2r27 |
C |
T |
6: 124,201,312 (GRCm39) |
W215* |
probably null |
Het |
| Xirp1 |
A |
T |
9: 119,846,984 (GRCm39) |
M633K |
probably damaging |
Het |
| Zfp174 |
T |
C |
16: 3,665,804 (GRCm39) |
I23T |
possibly damaging |
Het |
| Zfp536 |
T |
A |
7: 37,179,828 (GRCm39) |
S926C |
probably damaging |
Het |
| Zfp943 |
T |
C |
17: 22,209,922 (GRCm39) |
S65P |
possibly 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 |
|
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'- TAGGAACATGCAGTCGTGGTC -3'
(R):5'- TTCTACTGCCGATGCTGAGC -3'
Sequencing Primer
(F):5'- AGTCGTGGTCTCCATCATAATCG -3'
(R):5'- ATGCTGAGCTTGTCCATCAGAATG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation