Incidental Mutation 'R4427:Pwwp2a'
| ID |
328240 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pwwp2a
|
| Ensembl Gene |
ENSMUSG00000044950 |
| Gene Name |
PWWP domain containing 2A |
| Synonyms |
4631424J17Rik, D930040F23Rik |
| MMRRC Submission |
041145-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R4427 (G1)
|
| Quality Score |
160 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
43572825-43612318 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43573344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 142
(V142A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091852
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061070]
[ENSMUST00000094294]
[ENSMUST00000109280]
|
| AlphaFold |
Q69Z61 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061070
AA Change: V142A
PolyPhen 2
Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000054154
Gene: ENSMUSG00000044950
AA Change: V142A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
76 |
N/A |
INTRINSIC |
|
low complexity region
|
84 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
264 |
275 |
N/A |
INTRINSIC |
|
low complexity region
|
488 |
509 |
N/A |
INTRINSIC |
|
low complexity region
|
548 |
562 |
N/A |
INTRINSIC |
|
low complexity region
|
566 |
576 |
N/A |
INTRINSIC |
|
low complexity region
|
588 |
598 |
N/A |
INTRINSIC |
|
Pfam:PWWP
|
628 |
714 |
5.3e-15 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094294
AA Change: V142A
PolyPhen 2
Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000091852
Gene: ENSMUSG00000044950
AA Change: V142A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
76 |
N/A |
INTRINSIC |
|
low complexity region
|
84 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
264 |
275 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109280
|
| SMART Domains |
Protein: ENSMUSP00000104903
Gene: ENSMUSG00000044950
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
213 |
234 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
287 |
N/A |
INTRINSIC |
|
low complexity region
|
291 |
301 |
N/A |
INTRINSIC |
|
low complexity region
|
313 |
323 |
N/A |
INTRINSIC |
|
Pfam:PWWP
|
353 |
438 |
2.1e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148461
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
96% (48/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
A |
T |
7: 29,278,678 (GRCm39) |
|
noncoding transcript |
Het |
| A2ml1 |
T |
C |
6: 128,522,009 (GRCm39) |
E1271G |
probably benign |
Het |
| Ccdc88b |
C |
T |
19: 6,827,940 (GRCm39) |
E878K |
probably damaging |
Het |
| Cfap119 |
A |
G |
7: 127,187,288 (GRCm39) |
|
probably benign |
Het |
| Crybg3 |
T |
C |
16: 59,363,562 (GRCm39) |
K2441E |
probably damaging |
Het |
| Cryga |
A |
T |
1: 65,139,775 (GRCm39) |
I121N |
probably damaging |
Het |
| Dst |
A |
T |
1: 34,220,541 (GRCm39) |
Q2115L |
probably benign |
Het |
| Evi2 |
T |
A |
11: 79,407,182 (GRCm39) |
Q131L |
possibly damaging |
Het |
| Exoc1 |
A |
G |
5: 76,711,110 (GRCm39) |
I61V |
probably benign |
Het |
| Firrm |
A |
G |
1: 163,781,853 (GRCm39) |
V858A |
probably benign |
Het |
| Frem2 |
A |
G |
3: 53,446,583 (GRCm39) |
|
probably null |
Het |
| Gas2l1 |
A |
G |
11: 5,013,908 (GRCm39) |
V184A |
probably benign |
Het |
| Gsto2 |
T |
C |
19: 47,860,212 (GRCm39) |
S2P |
possibly damaging |
Het |
| Herc1 |
T |
C |
9: 66,403,287 (GRCm39) |
L4402P |
probably damaging |
Het |
| Kcnd2 |
T |
A |
6: 21,216,896 (GRCm39) |
I200N |
probably damaging |
Het |
| Klhl30 |
A |
G |
1: 91,281,426 (GRCm39) |
D9G |
probably damaging |
Het |
| Ltf |
C |
A |
9: 110,852,672 (GRCm39) |
T178K |
probably damaging |
Het |
| Memo1 |
T |
A |
17: 74,509,302 (GRCm39) |
Y239F |
probably benign |
Het |
| Ogdh |
C |
T |
11: 6,305,421 (GRCm39) |
T972I |
probably benign |
Het |
| Phactr4 |
T |
C |
4: 132,114,352 (GRCm39) |
D24G |
possibly damaging |
Het |
| Pi4ka |
C |
T |
16: 17,098,908 (GRCm39) |
R1992H |
probably damaging |
Het |
| Poc1b |
T |
C |
10: 98,991,001 (GRCm39) |
|
probably null |
Het |
| Ppp1r9b |
A |
T |
11: 94,892,150 (GRCm39) |
R188S |
possibly damaging |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
| Rcsd1 |
C |
A |
1: 165,483,464 (GRCm39) |
V206L |
probably damaging |
Het |
| Rps6ka2 |
T |
A |
17: 7,566,804 (GRCm39) |
D687E |
possibly damaging |
Het |
| Sgce |
G |
A |
6: 4,691,459 (GRCm39) |
A295V |
probably damaging |
Het |
| Siglec15 |
T |
G |
18: 78,086,836 (GRCm39) |
E341A |
possibly damaging |
Het |
| Tcaim |
T |
C |
9: 122,643,561 (GRCm39) |
F87S |
probably benign |
Het |
| Thbs2 |
C |
A |
17: 14,900,597 (GRCm39) |
V537L |
probably benign |
Het |
| Timd6 |
T |
A |
11: 46,475,247 (GRCm39) |
F147L |
probably benign |
Het |
| Tmx3 |
T |
A |
18: 90,541,725 (GRCm39) |
V158D |
probably damaging |
Het |
| Tpm1 |
A |
G |
9: 66,939,847 (GRCm39) |
|
probably benign |
Het |
| Trmt2a |
A |
G |
16: 18,067,093 (GRCm39) |
|
probably benign |
Het |
| Ugcg |
T |
A |
4: 59,219,555 (GRCm39) |
F297L |
probably benign |
Het |
| Utp18 |
T |
C |
11: 93,757,264 (GRCm39) |
N467D |
probably damaging |
Het |
| Vmn2r73 |
A |
G |
7: 85,506,981 (GRCm39) |
F777S |
probably damaging |
Het |
| Vwc2 |
A |
G |
11: 11,104,235 (GRCm39) |
T256A |
probably damaging |
Het |
| Zfp300 |
C |
T |
X: 20,949,405 (GRCm39) |
V120I |
possibly damaging |
Het |
| Zfp982 |
A |
T |
4: 147,597,080 (GRCm39) |
R146* |
probably null |
Het |
|
| Other mutations in Pwwp2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02200:Pwwp2a
|
APN |
11 |
43,596,955 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02227:Pwwp2a
|
APN |
11 |
43,596,448 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02653:Pwwp2a
|
APN |
11 |
43,596,862 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL03258:Pwwp2a
|
APN |
11 |
43,595,392 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0376:Pwwp2a
|
UTSW |
11 |
43,595,499 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1465:Pwwp2a
|
UTSW |
11 |
43,596,383 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1465:Pwwp2a
|
UTSW |
11 |
43,596,383 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2127:Pwwp2a
|
UTSW |
11 |
43,596,145 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2128:Pwwp2a
|
UTSW |
11 |
43,596,145 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2173:Pwwp2a
|
UTSW |
11 |
43,573,313 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3077:Pwwp2a
|
UTSW |
11 |
43,596,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3436:Pwwp2a
|
UTSW |
11 |
43,597,015 (GRCm39) |
nonsense |
probably null |
|
|
R3437:Pwwp2a
|
UTSW |
11 |
43,597,015 (GRCm39) |
nonsense |
probably null |
|
|
R5597:Pwwp2a
|
UTSW |
11 |
43,573,422 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5672:Pwwp2a
|
UTSW |
11 |
43,596,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6132:Pwwp2a
|
UTSW |
11 |
43,596,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6197:Pwwp2a
|
UTSW |
11 |
43,595,423 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6563:Pwwp2a
|
UTSW |
11 |
43,596,592 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6709:Pwwp2a
|
UTSW |
11 |
43,595,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7049:Pwwp2a
|
UTSW |
11 |
43,597,018 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7305:Pwwp2a
|
UTSW |
11 |
43,607,878 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7351:Pwwp2a
|
UTSW |
11 |
43,573,107 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7767:Pwwp2a
|
UTSW |
11 |
43,596,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8921:Pwwp2a
|
UTSW |
11 |
43,596,344 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9144:Pwwp2a
|
UTSW |
11 |
43,596,721 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATAGCTCCGAGGCTGAGGA -3'
(R):5'- CATTAACCCATCTGCCCCAGTG -3'
Sequencing Primer
(F):5'- TGAGGAGGCGAAGCCGCCCG -3'
(R):5'- TGTGCCAGCCATCTGCAC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation