Incidental Mutation 'R8288:Arpp19'
ID 638531
Institutional Source Beutler Lab
Gene Symbol Arpp19
Ensembl Gene ENSMUSG00000007656
Gene Name cAMP-regulated phosphoprotein 19
Synonyms
MMRRC Submission 067710-MU
Accession Numbers
Essential gene? Not available question?
Stock # R8288 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 74944896-74967595 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to C at 74944914 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 1 (M1T)
Ref Sequence ENSEMBL: ENSMUSP00000128921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007800] [ENSMUST00000164467] [ENSMUST00000167885] [ENSMUST00000168166] [ENSMUST00000168301] [ENSMUST00000169188] [ENSMUST00000169492] [ENSMUST00000170308]
AlphaFold P56212
Predicted Effect probably benign
Transcript: ENSMUST00000007800
SMART Domains Protein: ENSMUSP00000007800
Gene: ENSMUSG00000007656

DomainStartEndE-ValueType
Pfam:Endosulfine 7 104 4.5e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164467
SMART Domains Protein: ENSMUSP00000130730
Gene: ENSMUSG00000007656

DomainStartEndE-ValueType
Pfam:Endosulfine 7 104 4.5e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167885
SMART Domains Protein: ENSMUSP00000131597
Gene: ENSMUSG00000007656

DomainStartEndE-ValueType
Pfam:Endosulfine 3 88 5.8e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168166
SMART Domains Protein: ENSMUSP00000126618
Gene: ENSMUSG00000007656

DomainStartEndE-ValueType
Pfam:Endosulfine 7 104 4.5e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168301
Predicted Effect probably benign
Transcript: ENSMUST00000169188
SMART Domains Protein: ENSMUSP00000131922
Gene: ENSMUSG00000007656

DomainStartEndE-ValueType
Pfam:Endosulfine 10 65 7.4e-10 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000169492
AA Change: M1T
SMART Domains Protein: ENSMUSP00000128921
Gene: ENSMUSG00000007656
AA Change: M1T

DomainStartEndE-ValueType
low complexity region 14 46 N/A INTRINSIC
Pfam:Endosulfine 54 142 1.9e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170308
SMART Domains Protein: ENSMUSP00000132350
Gene: ENSMUSG00000007656

DomainStartEndE-ValueType
Pfam:Endosulfine 7 104 4.5e-18 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The 19-kD cAMP-regulated phosphoprotein plays a role in regulating mitosis by inhibiting protein phosphatase-2A (PP2A; see MIM 176915) (summary by Gharbi-Ayachi et al., 2010 [PubMed 21164014]).[supplied by OMIM, Feb 2011]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap3m2 C T 8: 23,283,153 (GRCm39) A200T probably benign Het
Baiap2 T A 11: 119,888,465 (GRCm39) V407E probably damaging Het
Cdh18 A G 15: 23,446,073 (GRCm39) T508A probably damaging Het
Cnnm3 C A 1: 36,551,074 (GRCm39) A28E possibly damaging Het
Cpb1 A T 3: 20,319,531 (GRCm39) C184* probably null Het
Ddb1 T C 19: 10,585,712 (GRCm39) V142A probably benign Het
Disp2 T C 2: 118,620,762 (GRCm39) V498A probably damaging Het
Dmgdh T C 13: 93,845,332 (GRCm39) Y442H probably damaging Het
Dync2i1 A G 12: 116,177,345 (GRCm39) F811S probably damaging Het
Eef2k T A 7: 120,502,604 (GRCm39) M722K probably damaging Het
Erbb4 A G 1: 68,337,509 (GRCm39) F603S probably damaging Het
Filip1l C T 16: 57,390,917 (GRCm39) R502C probably damaging Het
Gbp9 C T 5: 105,253,599 (GRCm39) V39M probably damaging Het
Gm17079 T C 14: 51,931,815 (GRCm39) Y98C Het
Gstz1 A G 12: 87,194,604 (GRCm39) M1V probably null Het
Hsd17b13 T G 5: 104,111,701 (GRCm39) I281L probably benign Het
Hydin A G 8: 111,233,661 (GRCm39) E1833G probably damaging Het
Irs1 G A 1: 82,265,682 (GRCm39) Q845* probably null Het
Kctd11 C T 11: 69,770,883 (GRCm39) G52R probably damaging Het
Kit T C 5: 75,815,149 (GRCm39) S962P probably damaging Het
Lrrn1 C T 6: 107,543,955 (GRCm39) probably benign Het
Mastl T C 2: 23,023,371 (GRCm39) K451E probably damaging Het
Mptx2 A G 1: 173,102,356 (GRCm39) V111A probably benign Het
Nuak2 G T 1: 132,255,579 (GRCm39) C178F probably damaging Het
Pah G A 10: 87,374,047 (GRCm39) R71H probably benign Het
Pclo C A 5: 14,762,885 (GRCm39) T501K Het
Pla2g4e C T 2: 120,018,990 (GRCm39) probably null Het
Polq A G 16: 36,848,272 (GRCm39) E293G probably damaging Het
Rptor G A 11: 119,748,763 (GRCm39) E782K probably benign Het
Scn7a T A 2: 66,506,318 (GRCm39) R1524W probably damaging Het
Slc4a5 T C 6: 83,203,237 (GRCm39) S46P probably benign Het
Srcap T A 7: 127,130,528 (GRCm39) I664N probably damaging Het
Stk24 A C 14: 121,530,841 (GRCm39) F372V possibly damaging Het
Szt2 T C 4: 118,246,973 (GRCm39) S881G probably damaging Het
Trim40 T C 17: 37,194,210 (GRCm39) D161G probably benign Het
Trip11 T C 12: 101,860,643 (GRCm39) H234R possibly damaging Het
Trpc1 T C 9: 95,603,434 (GRCm39) K366R probably damaging Het
Ugt2b35 T C 5: 87,149,316 (GRCm39) L189P probably damaging Het
Unc80 A G 1: 66,512,509 (GRCm39) S140G probably benign Het
Zfp446 A G 7: 12,711,885 (GRCm39) E36G probably benign Het
Zfp738 T A 13: 67,818,908 (GRCm39) H361L possibly damaging Het
Other mutations in Arpp19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02047:Arpp19 APN 9 74,964,058 (GRCm39) missense probably damaging 0.98
R0927:Arpp19 UTSW 9 74,944,967 (GRCm39) utr 5 prime probably benign
R5636:Arpp19 UTSW 9 74,945,215 (GRCm39) utr 5 prime probably benign
R6253:Arpp19 UTSW 9 74,964,016 (GRCm39) missense probably damaging 1.00
R8897:Arpp19 UTSW 9 74,963,948 (GRCm39) missense possibly damaging 0.85
Predicted Primers PCR Primer
(F):5'- TAGAACTCTCCGGAGCAGTG -3'
(R):5'- CCGGGAGAAGACAGATTACC -3'

Sequencing Primer
(F):5'- CTCCGGAGCAGTGGTAGCTTG -3'
(R):5'- TACCGCCGCCTTGTGAC -3'
Posted On 2020-07-28