Incidental Mutation 'R0320:Ppm1n'
ID 38285
Institutional Source Beutler Lab
Gene Symbol Ppm1n
Ensembl Gene ENSMUSG00000030402
Gene Name protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative)
Synonyms
MMRRC Submission 038530-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.194) question?
Stock # R0320 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 19010730-19013989 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 19012281 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 317 (V317A)
Ref Sequence ENSEMBL: ENSMUSP00000032560 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032559] [ENSMUST00000032560]
AlphaFold Q8BGL1
Predicted Effect probably benign
Transcript: ENSMUST00000032559
SMART Domains Protein: ENSMUSP00000032559
Gene: ENSMUSG00000030401

DomainStartEndE-ValueType
low complexity region 14 25 N/A INTRINSIC
low complexity region 42 53 N/A INTRINSIC
low complexity region 70 85 N/A INTRINSIC
low complexity region 119 144 N/A INTRINSIC
Pfam:Reticulon 272 436 2.9e-45 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000032560
AA Change: V317A

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000032560
Gene: ENSMUSG00000030402
AA Change: V317A

DomainStartEndE-ValueType
low complexity region 18 28 N/A INTRINSIC
PP2Cc 49 317 2.02e-82 SMART
PP2C_SIG 72 319 1.08e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205498
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205792
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206782
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209186
Meta Mutation Damage Score 0.5169 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency 100% (71/71)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,384,571 (GRCm39) T465A probably benign Het
A430110L20Rik T G 1: 181,054,987 (GRCm39) noncoding transcript Het
Aadacl4fm1 A T 4: 144,248,990 (GRCm39) H119L probably damaging Het
Abcb10 C T 8: 124,689,746 (GRCm39) R439Q probably benign Het
Abcb8 T C 5: 24,605,788 (GRCm39) S199P probably damaging Het
Adam8 C A 7: 139,566,355 (GRCm39) C556F probably damaging Het
Akap11 T C 14: 78,750,819 (GRCm39) T523A probably benign Het
Aldh3b1 T C 19: 3,968,999 (GRCm39) probably benign Het
Arhgap30 T A 1: 171,231,372 (GRCm39) W230R possibly damaging Het
Atp8b4 A G 2: 126,301,614 (GRCm39) I82T possibly damaging Het
Bptf A T 11: 106,963,645 (GRCm39) L1850I probably damaging Het
C4b C A 17: 34,952,135 (GRCm39) V1237L probably benign Het
Calu C A 6: 29,374,550 (GRCm39) probably benign Het
Cit C A 5: 116,117,504 (GRCm39) L1227M possibly damaging Het
Col4a1 C T 8: 11,292,782 (GRCm39) probably null Het
Cp T C 3: 20,029,012 (GRCm39) probably benign Het
Cpd T C 11: 76,731,273 (GRCm39) D311G possibly damaging Het
Ctc1 T A 11: 68,924,363 (GRCm39) S972T probably damaging Het
Dnah17 A G 11: 117,943,500 (GRCm39) F3201L possibly damaging Het
Dop1b C A 16: 93,607,035 (GRCm39) R2113S probably benign Het
Dym T A 18: 75,332,333 (GRCm39) D520E probably damaging Het
Eif5a G T 11: 69,808,305 (GRCm39) T64K probably benign Het
Flt3 A T 5: 147,306,389 (GRCm39) probably benign Het
Ints6 A T 14: 62,945,084 (GRCm39) Y415* probably null Het
Itga1 A G 13: 115,114,130 (GRCm39) probably benign Het
Itgae A G 11: 73,021,825 (GRCm39) H902R possibly damaging Het
Itprid1 T C 6: 55,953,432 (GRCm39) I916T probably damaging Het
Kdm5a T C 6: 120,366,581 (GRCm39) I406T probably benign Het
Lmx1a C T 1: 167,618,973 (GRCm39) Q111* probably null Het
Lrrc25 T C 8: 71,070,896 (GRCm39) Y226H probably benign Het
Mcam T A 9: 44,051,483 (GRCm39) N447K possibly damaging Het
Mcm10 A T 2: 5,008,897 (GRCm39) D357E probably benign Het
Nrip1 T C 16: 76,089,251 (GRCm39) T769A probably benign Het
Ofcc1 G C 13: 40,360,172 (GRCm39) Q286E probably benign Het
Or1e23 T G 11: 73,407,750 (GRCm39) I92L probably damaging Het
Or56b35 A T 7: 104,963,861 (GRCm39) I217F probably benign Het
Parp3 T A 9: 106,353,011 (GRCm39) N55I possibly damaging Het
Parp4 T C 14: 56,825,953 (GRCm39) probably null Het
Pilrb1 G A 5: 137,853,260 (GRCm39) T181I probably benign Het
Prdm2 A T 4: 142,905,921 (GRCm39) F55L probably damaging Het
Psd2 C T 18: 36,112,697 (GRCm39) R131C probably damaging Het
Ralgps1 A T 2: 33,031,027 (GRCm39) C570S possibly damaging Het
Scaf8 T C 17: 3,228,530 (GRCm39) S443P unknown Het
Setd5 A G 6: 113,088,442 (GRCm39) K190R probably damaging Het
Spsb4 T A 9: 96,878,161 (GRCm39) H54L probably damaging Het
St7l T A 3: 104,778,229 (GRCm39) L122* probably null Het
Stom C T 2: 35,211,646 (GRCm39) R125H probably damaging Het
Tigd4 T A 3: 84,502,481 (GRCm39) V466E probably benign Het
Tmc3 A C 7: 83,257,027 (GRCm39) probably benign Het
Vcl C T 14: 21,035,692 (GRCm39) probably benign Het
Vmn1r168 G A 7: 23,240,767 (GRCm39) R208H probably benign Het
Vmn2r75 C A 7: 85,814,288 (GRCm39) V402L probably benign Het
Vps13b A T 15: 35,674,974 (GRCm39) H1698L probably damaging Het
Wnt16 T G 6: 22,297,992 (GRCm39) V286G possibly damaging Het
Xirp1 C A 9: 119,845,533 (GRCm39) V1117L probably benign Het
Zfp788 C T 7: 41,298,971 (GRCm39) H536Y probably damaging Het
Other mutations in Ppm1n
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00543:Ppm1n APN 7 19,012,109 (GRCm39) missense probably benign 0.00
IGL01338:Ppm1n APN 7 19,013,179 (GRCm39) missense probably benign 0.04
IGL01649:Ppm1n APN 7 19,012,122 (GRCm39) splice site probably benign
IGL02388:Ppm1n APN 7 19,013,097 (GRCm39) missense probably damaging 1.00
R2153:Ppm1n UTSW 7 19,012,110 (GRCm39) missense probably damaging 0.98
R5099:Ppm1n UTSW 7 19,011,903 (GRCm39) missense possibly damaging 0.95
R7060:Ppm1n UTSW 7 19,013,187 (GRCm39) missense probably damaging 1.00
R7167:Ppm1n UTSW 7 19,013,666 (GRCm39) missense probably damaging 1.00
R8316:Ppm1n UTSW 7 19,012,302 (GRCm39) missense probably damaging 1.00
Z1176:Ppm1n UTSW 7 19,013,170 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCAATGACAGCGGCCCTAAAG -3'
(R):5'- ATTGGTCAGATCCGTGAGGGAGAC -3'

Sequencing Primer
(F):5'- GTTCCTGAGCAGAGGCATAC -3'
(R):5'- GTGAGGGAGACTCCCAACAC -3'
Posted On 2013-05-23