Incidental Mutation 'IGL02653:Pwwp2a'
ID302227
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pwwp2a
Ensembl Gene ENSMUSG00000044950
Gene NamePWWP domain containing 2A
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.197) question?
Stock #IGL02653
Quality Score
Status
Chromosome11
Chromosomal Location43681998-43721491 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 43706035 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 676 (T676A)
Ref Sequence ENSEMBL: ENSMUSP00000054154 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061070] [ENSMUST00000094294] [ENSMUST00000109280]
Predicted Effect possibly damaging
Transcript: ENSMUST00000061070
AA Change: T676A

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000054154
Gene: ENSMUSG00000044950
AA Change: T676A

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000094294
SMART Domains Protein: ENSMUSP00000091852
Gene: ENSMUSG00000044950

DomainStartEndE-ValueType
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
AA Change: T401A

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000104903
Gene: ENSMUSG00000044950
AA Change: T401A

DomainStartEndE-ValueType
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: ENSMUST00000129229
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 T C 7: 46,115,767 probably benign Het
Alox5 T A 6: 116,415,477 H361L probably benign Het
Arid2 A G 15: 96,287,702 N3S probably damaging Het
Atp1a4 T A 1: 172,251,406 I182F possibly damaging Het
Ctnna2 A T 6: 76,980,777 D496E probably benign Het
Cyp3a25 G T 5: 146,003,110 S29Y possibly damaging Het
Dglucy G A 12: 100,871,431 G611D probably benign Het
Efcab5 T C 11: 77,132,022 K622E probably damaging Het
Esyt1 T A 10: 128,511,008 I1071L probably benign Het
Fbn2 T C 18: 58,076,705 K1035E probably benign Het
Frem1 T G 4: 82,959,334 E1335D probably benign Het
Gm5900 A G 7: 104,950,133 noncoding transcript Het
Ikbke T A 1: 131,271,835 Q283L possibly damaging Het
Lepr A T 4: 101,764,944 I358F probably benign Het
Lnpk A G 2: 74,548,048 V123A probably damaging Het
Mis12 A G 11: 71,025,531 K130R probably damaging Het
Ncapg2 T A 12: 116,425,906 probably null Het
Npy6r T C 18: 44,276,627 *372Q probably null Het
Polr3d T C 14: 70,440,117 D273G probably damaging Het
Ppp2r3a A G 9: 101,211,693 V477A probably benign Het
Prpf19 T A 19: 10,902,964 probably benign Het
Ralgapb T A 2: 158,443,309 I242N probably damaging Het
Scn3a A T 2: 65,461,187 S1738R probably damaging Het
Snapc1 C A 12: 73,982,487 P348Q probably benign Het
Spert T C 14: 75,583,157 D385G probably damaging Het
Tbc1d7 T C 13: 43,165,398 I88V probably benign Het
Tnks2 T C 19: 36,872,451 S220P probably damaging Het
Trim56 A T 5: 137,112,906 S585R probably damaging Het
Trpm2 T G 10: 77,912,669 E1389A probably benign Het
Tspear T A 10: 77,706,965 probably benign Het
Vmn1r180 T C 7: 23,953,075 I221T probably damaging Het
Vmn1r204 A C 13: 22,556,630 I144L probably benign Het
Vmn2r20 A T 6: 123,385,365 I820N probably damaging Het
Vwa3b T A 1: 37,175,565 probably benign Het
Wnt1 G A 15: 98,792,455 G222R probably damaging Het
Zadh2 T C 18: 84,095,318 V373A possibly damaging Het
Other mutations in Pwwp2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02200:Pwwp2a APN 11 43706128 missense possibly damaging 0.46
IGL02227:Pwwp2a APN 11 43705621 missense possibly damaging 0.93
IGL03258:Pwwp2a APN 11 43704565 missense probably benign 0.21
R0376:Pwwp2a UTSW 11 43704672 missense probably benign 0.00
R1465:Pwwp2a UTSW 11 43705556 missense possibly damaging 0.95
R1465:Pwwp2a UTSW 11 43705556 missense possibly damaging 0.95
R2127:Pwwp2a UTSW 11 43705318 missense probably benign 0.13
R2128:Pwwp2a UTSW 11 43705318 missense probably benign 0.13
R2173:Pwwp2a UTSW 11 43682486 missense probably benign 0.01
R3077:Pwwp2a UTSW 11 43705385 missense probably damaging 1.00
R3436:Pwwp2a UTSW 11 43706188 nonsense probably null
R3437:Pwwp2a UTSW 11 43706188 nonsense probably null
R4427:Pwwp2a UTSW 11 43682517 missense possibly damaging 0.52
R5597:Pwwp2a UTSW 11 43682595 missense probably benign 0.34
R5672:Pwwp2a UTSW 11 43706141 missense probably damaging 1.00
R6132:Pwwp2a UTSW 11 43705628 missense probably damaging 1.00
R6197:Pwwp2a UTSW 11 43704596 missense probably benign 0.00
R6563:Pwwp2a UTSW 11 43705765 missense possibly damaging 0.88
R6709:Pwwp2a UTSW 11 43704727 missense probably damaging 1.00
Posted On2015-04-16