Incidental Mutation 'R6132:Pwwp2a'
ID 487189
Institutional Source Beutler Lab
Gene Symbol Pwwp2a
Ensembl Gene ENSMUSG00000044950
Gene Name PWWP domain containing 2A
Synonyms 4631424J17Rik, D930040F23Rik
MMRRC Submission 044279-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.113) question?
Stock # R6132 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 43572825-43612318 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43596455 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 540 (Y540C)
Ref Sequence ENSEMBL: ENSMUSP00000054154 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061070] [ENSMUST00000094294] [ENSMUST00000109280]
AlphaFold Q69Z61
Predicted Effect probably damaging
Transcript: ENSMUST00000061070
AA Change: Y540C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000054154
Gene: ENSMUSG00000044950
AA Change: Y540C

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 damaging
Transcript: ENSMUST00000109280
AA Change: Y265C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000104903
Gene: ENSMUSG00000044950
AA Change: Y265C

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 96% (49/51)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T C 7: 119,960,643 (GRCm39) Y702H probably benign Het
Adgrv1 G T 13: 81,654,195 (GRCm39) N2225K probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Alkbh5 G T 11: 60,428,821 (GRCm39) probably benign Het
Atp5mc1 A G 11: 95,965,850 (GRCm39) M1T probably null Het
Crebrf C T 17: 26,982,377 (GRCm39) P588S probably benign Het
Ctsr A C 13: 61,309,582 (GRCm39) probably null Het
Cyp2c68 A G 19: 39,691,858 (GRCm39) V355A possibly damaging Het
Ddx52 A G 11: 83,850,283 (GRCm39) K555E possibly damaging Het
Depdc5 T A 5: 33,067,811 (GRCm39) S410T probably damaging Het
Dhx30 A T 9: 109,914,847 (GRCm39) I884N probably damaging Het
Dlg1 A T 16: 31,655,059 (GRCm39) N518I possibly damaging Het
Dnah12 T A 14: 26,439,066 (GRCm39) I506N probably damaging Het
Efcab6 A G 15: 83,917,173 (GRCm39) L129P probably damaging Het
Erap1 A G 13: 74,808,401 (GRCm39) N38D probably benign Het
Esf1 A G 2: 140,001,699 (GRCm39) F383L probably benign Het
Exoc4 A G 6: 33,735,033 (GRCm39) E550G probably damaging Het
Fbxo44 G A 4: 148,240,565 (GRCm39) T221I probably benign Het
Gal3st2b A T 1: 93,867,688 (GRCm39) M112L possibly damaging Het
Golph3l C G 3: 95,499,145 (GRCm39) P96A probably benign Het
Gprc6a T A 10: 51,491,356 (GRCm39) I727F possibly damaging Het
Grin3b T C 10: 79,812,274 (GRCm39) L479P probably damaging Het
Kdm5a C T 6: 120,351,892 (GRCm39) H161Y probably damaging Het
Lman2 A G 13: 55,510,038 (GRCm39) S73P probably benign Het
Map3k19 T C 1: 127,778,213 (GRCm39) N4S possibly damaging Het
Mkln1 G A 6: 31,408,155 (GRCm39) V161M probably damaging Het
Mmel1 C T 4: 154,979,475 (GRCm39) H728Y probably damaging Het
Nova2 G A 7: 18,691,794 (GRCm39) A244T unknown Het
Nrcam T A 12: 44,617,007 (GRCm39) Y668N probably damaging Het
Oacyl G T 18: 65,859,426 (GRCm39) G255W probably damaging Het
Omd A C 13: 49,743,843 (GRCm39) I298L probably damaging Het
Or5ac19 A G 16: 59,089,367 (GRCm39) V221A probably damaging Het
Or5ak24 A T 2: 85,260,490 (GRCm39) S228T probably benign Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Otor A T 2: 142,920,520 (GRCm39) D34V probably damaging Het
Otx1 A T 11: 21,949,406 (GRCm39) L24H probably damaging Het
Rttn T A 18: 89,133,770 (GRCm39) probably null Het
S1pr4 G A 10: 81,335,030 (GRCm39) A148V probably benign Het
Scn10a C T 9: 119,442,761 (GRCm39) V1495M possibly damaging Het
Sel1l3 T C 5: 53,357,531 (GRCm39) K154E possibly damaging Het
Sema3a T G 5: 13,573,142 (GRCm39) probably null Het
Slf2 T A 19: 44,949,300 (GRCm39) N870K possibly damaging Het
Spmip6 C T 4: 41,517,160 (GRCm39) M1I probably null Het
Syne2 T C 12: 75,991,921 (GRCm39) V1962A probably benign Het
Tarbp1 T A 8: 127,161,548 (GRCm39) I1219F probably benign Het
Tet1 A C 10: 62,649,079 (GRCm39) C173W probably damaging Het
Tnn A G 1: 159,973,641 (GRCm39) F242S probably damaging Het
Tollip A G 7: 141,443,334 (GRCm39) S174P probably benign Het
Tsr3 G T 17: 25,460,835 (GRCm39) D234Y probably null Het
Vmn2r106 T C 17: 20,488,666 (GRCm39) T578A probably benign Het
Zfp457 G T 13: 67,441,360 (GRCm39) S309* probably null Het
Other mutations in Pwwp2a
AlleleSourceChrCoordTypePredicted EffectPPH 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
R4427:Pwwp2a UTSW 11 43,573,344 (GRCm39) missense possibly damaging 0.52
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
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'- AATTCGGAGTGGCAAGCTGG -3'
(R):5'- AAGAATTACGGAGGCTATTCTCTTCC -3'

Sequencing Primer
(F):5'- TAAGCCGCAGTCTCGATGC -3'
(R):5'- TTCCTTTGAAGAGAAGGAAGTAGAAG -3'
Posted On 2017-10-10