Incidental Mutation 'R4043:Ppp2r2d'
ID313931
Institutional Source Beutler Lab
Gene Symbol Ppp2r2d
Ensembl Gene ENSMUSG00000041769
Gene Nameprotein phosphatase 2, regulatory subunit B, delta
Synonyms1300017E19Rik, MDS026, D7Ertd753e
MMRRC Submission 041615-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.913) question?
Stock #R4043 (G1)
Quality Score225
Status Validated
Chromosome7
Chromosomal Location138846079-138883057 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 138882416 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Stop codon at position 265 (W265*)
Ref Sequence ENSEMBL: ENSMUSP00000119004 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041097] [ENSMUST00000155672]
Predicted Effect probably null
Transcript: ENSMUST00000041097
AA Change: W430*
SMART Domains Protein: ENSMUSP00000040321
Gene: ENSMUSG00000041769
AA Change: W430*

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
WD40 27 62 1.91e1 SMART
WD40 89 129 4.77e0 SMART
WD40 171 210 1.19e0 SMART
WD40 221 261 1.91e1 SMART
WD40 280 318 4.11e1 SMART
WD40 345 376 2.54e2 SMART
WD40 412 449 3.82e1 SMART
Predicted Effect probably null
Transcript: ENSMUST00000155672
AA Change: W265*
SMART Domains Protein: ENSMUSP00000119004
Gene: ENSMUSG00000041769
AA Change: W265*

DomainStartEndE-ValueType
WD40 6 45 1.19e0 SMART
WD40 56 96 1.91e1 SMART
WD40 115 153 4.11e1 SMART
WD40 180 211 2.54e2 SMART
WD40 247 284 3.82e1 SMART
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 92.9%
Validation Efficiency 97% (64/66)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4430402I18Rik A T 19: 28,945,783 C80S possibly damaging Het
4930415L06Rik A G X: 89,932,303 F96S probably damaging Het
Adgrf3 T C 5: 30,204,362 N44D probably benign Het
AU018091 A G 7: 3,159,122 F375L probably damaging Het
Bsph1 G T 7: 13,458,276 probably null Het
Casp1 A G 9: 5,302,444 D122G probably benign Het
Ccdc146 C T 5: 21,316,943 C361Y probably benign Het
Cdc37l1 T C 19: 28,990,628 S31P possibly damaging Het
Cdca2 A T 14: 67,704,006 M249K probably benign Het
Cfap73 C T 5: 120,629,965 probably null Het
Cgnl1 A G 9: 71,705,293 L749S probably damaging Het
Cmtr2 C A 8: 110,221,830 C257* probably null Het
Col6a4 A T 9: 106,072,411 L675* probably null Het
Cpne8 A T 15: 90,572,001 D186E probably damaging Het
Csmd3 A G 15: 47,755,966 probably null Het
D330045A20Rik C T X: 139,507,003 S364L probably damaging Het
D430042O09Rik A G 7: 125,868,741 I1366V probably benign Het
Daglb T A 5: 143,487,151 Y354N possibly damaging Het
Dlgap1 T C 17: 70,761,080 S549P probably damaging Het
Dnah11 T C 12: 117,879,943 D4389G probably damaging Het
Dst T A 1: 34,190,684 C2631S probably benign Het
Gimap1 T A 6: 48,743,242 W263R probably damaging Het
Gne A C 4: 44,040,383 C594G possibly damaging Het
Gtf2a1 T C 12: 91,575,667 H47R probably benign Het
Hdac6 T C X: 7,931,492 T993A probably benign Het
Helz2 T C 2: 181,229,710 D2703G probably benign Het
Jmjd1c G A 10: 67,219,466 V222I possibly damaging Het
Kndc1 A G 7: 139,924,129 E1116G probably benign Het
Krt10 C T 11: 99,386,993 probably null Het
Lrrc37a T G 11: 103,498,653 H1982P possibly damaging Het
Med13l T A 5: 118,593,463 L68Q probably damaging Het
Megf10 C A 18: 57,259,798 D422E probably damaging Het
Mpz C T 1: 171,159,771 probably benign Het
Muc5ac A T 7: 141,807,478 T1508S possibly damaging Het
Myo3a C T 2: 22,333,539 probably benign Het
Ndnf A T 6: 65,703,936 N400Y possibly damaging Het
Olfr192 G A 16: 59,098,761 T77I unknown Het
Olfr414 T C 1: 174,431,091 I221T probably damaging Het
Olfr855 G T 9: 19,584,995 V153F probably benign Het
Otol1 A G 3: 70,027,779 D368G probably damaging Het
Pappa A G 4: 65,314,587 N1321S probably benign Het
Patl1 T A 19: 11,942,950 L756Q probably damaging Het
Plcg2 A G 8: 117,612,978 M1043V probably benign Het
Plekhg2 G A 7: 28,364,719 probably benign Het
Prss40 G T 1: 34,560,879 S9* probably null Het
Radil T A 5: 142,494,233 I471F probably benign Het
Rpl10l A T 12: 66,284,203 M52K probably damaging Het
Scn1a A T 2: 66,326,036 S510T possibly damaging Het
Sdad1 T G 5: 92,302,694 N194T probably damaging Het
Sel1l3 A T 5: 53,188,054 Y259* probably null Het
Slc22a26 T C 19: 7,788,329 probably null Het
Snap91 C T 9: 86,777,049 G477D probably damaging Het
Srr T C 11: 74,909,121 T202A probably benign Het
Srrm1 C T 4: 135,340,931 probably benign Het
Trp53bp2 T A 1: 182,449,061 L869Q possibly damaging Het
Ttbk1 T A 17: 46,446,762 D982V probably benign Het
Ttn T C 2: 76,794,157 T15324A probably benign Het
Ush1c T C 7: 46,221,528 E276G probably damaging Het
Vcan T A 13: 89,692,543 L1627F probably benign Het
Vps8 A C 16: 21,526,396 D823A probably damaging Het
Zfp616 T A 11: 74,085,282 N792K possibly damaging Het
Zfpm2 A T 15: 40,870,627 D2V possibly damaging Het
Zfyve16 A C 13: 92,513,763 probably null Het
Zmym2 T A 14: 56,958,308 probably benign Het
Other mutations in Ppp2r2d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01154:Ppp2r2d APN 7 138882211 missense probably benign
IGL01538:Ppp2r2d APN 7 138876635 missense probably damaging 1.00
IGL02266:Ppp2r2d APN 7 138868437 missense probably damaging 0.97
IGL02268:Ppp2r2d APN 7 138872971 missense probably null 1.00
IGL03263:Ppp2r2d APN 7 138872922 nonsense probably null
R0482:Ppp2r2d UTSW 7 138870431 missense probably benign 0.08
R1946:Ppp2r2d UTSW 7 138868467 missense probably damaging 1.00
R4326:Ppp2r2d UTSW 7 138868485 missense probably damaging 1.00
R6164:Ppp2r2d UTSW 7 138873013 missense probably damaging 0.96
R7076:Ppp2r2d UTSW 7 138876597 missense possibly damaging 0.84
R8768:Ppp2r2d UTSW 7 138874168 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTGCCATTATGACGGGGTC -3'
(R):5'- TCTATTAGGGAAGTAGAAGTGCGC -3'

Sequencing Primer
(F):5'- ATTATGACGGGGTCCTACAAC -3'
(R):5'- GAAGTGCGCCACTATTCTCAATGG -3'
Posted On2015-04-30