Incidental Mutation 'FR4548:Ppp1r3f'
ID 512146
Institutional Source Beutler Lab
Gene Symbol Ppp1r3f
Ensembl Gene ENSMUSG00000039556
Gene Name protein phosphatase 1, regulatory (inhibitor) subunit 3F
Synonyms DXImx48e, RF3, Sfc15
Accession Numbers
Essential gene? Probably non essential (E-score: 0.031) question?
Stock # FR4548 ()
Quality Score 221.999
Status Not validated
Chromosome X
Chromosomal Location 7557296-7574283 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 7560336 bp (GRCm38)
Zygosity Homozygous
Amino Acid Change Glycine to Valine at position 562 (G562V)
Ref Sequence ENSEMBL: ENSMUSP00000122903 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115742] [ENSMUST00000150787]
AlphaFold Q9JIG4
Predicted Effect probably damaging
Transcript: ENSMUST00000115742
AA Change: G561V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111407
Gene: ENSMUSG00000039556
AA Change: G561V

low complexity region 9 37 N/A INTRINSIC
low complexity region 66 96 N/A INTRINSIC
Pfam:CBM_21 147 283 5.6e-30 PFAM
low complexity region 296 316 N/A INTRINSIC
low complexity region 330 343 N/A INTRINSIC
low complexity region 569 580 N/A INTRINSIC
low complexity region 585 599 N/A INTRINSIC
transmembrane domain 776 798 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123090
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126170
Predicted Effect unknown
Transcript: ENSMUST00000132788
AA Change: G240V
SMART Domains Protein: ENSMUSP00000116002
Gene: ENSMUSG00000039556
AA Change: G240V

low complexity region 249 260 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142447
Predicted Effect probably damaging
Transcript: ENSMUST00000150787
AA Change: G562V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122903
Gene: ENSMUSG00000039556
AA Change: G562V

low complexity region 9 37 N/A INTRINSIC
low complexity region 66 96 N/A INTRINSIC
Pfam:CBM_21 149 283 1.3e-29 PFAM
low complexity region 296 316 N/A INTRINSIC
low complexity region 330 343 N/A INTRINSIC
low complexity region 570 581 N/A INTRINSIC
low complexity region 586 600 N/A INTRINSIC
transmembrane domain 777 799 N/A INTRINSIC
Meta Mutation Damage Score 0.5481 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.5%
  • 10x: 98.3%
  • 20x: 94.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that has been identified as one of several type-1 protein phosphatase (PP1) regulatory subunits. One or two of these subunits, together with the well-conserved catalytic subunit, can form the PP1 holoenzyme, where the regulatory subunit functions to regulate substrate specificity and/or targeting to a particular cellular compartment. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
Allele List at MGI
Other mutations in this stock
Total: 147 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001K19Rik CTT CTTTTT 12: 110,668,449 (GRCm38) probably benign Het
1700001K19Rik CTT CTTTTT 12: 110,668,452 (GRCm38) probably benign Het
2010300C02Rik T A 1: 37,625,035 (GRCm38) E594V probably benign Homo
2010300C02Rik C A 1: 37,625,036 (GRCm38) E594* probably null Homo
2010300C02Rik A G 1: 37,625,102 (GRCm38) S47P probably damaging Homo
4930433I11Rik ACCTC AC 7: 40,993,056 (GRCm38) probably benign Het
4932415D10Rik G GTCATTA 10: 82,290,996 (GRCm38) probably benign Homo
Abt1 TTCTTGCT TT 13: 23,423,711 (GRCm38) probably benign Het
Ahdc1 TCC TCCCCC 4: 133,062,757 (GRCm38) probably benign Homo
Ahdc1 T TCCC 4: 133,062,760 (GRCm38) probably benign Homo
AI837181 CG CGGGG 19: 5,425,237 (GRCm38) probably benign Het
AI837181 CGG CGGGGG 19: 5,425,231 (GRCm38) probably benign Het
Anxa2 CCC CCCTCC 9: 69,480,203 (GRCm38) probably benign Het
Anxa7 C T 14: 20,469,411 (GRCm38) G113E probably damaging Homo
Apc CCAATAAAG CCAATAAAGACAATAAAG 18: 34,281,998 (GRCm38) probably benign Het
Apol6 T TGTTA 15: 77,051,445 (GRCm38) probably null Homo
BC051142 GCA GCATCA 17: 34,460,065 (GRCm38) probably benign Het
Blm CTAC CTACTTAC 7: 80,463,769 (GRCm38) probably null Homo
Bud31 C T 5: 145,146,535 (GRCm38) R63C probably benign Het
C4b C T 17: 34,740,997 (GRCm38) R335H probably benign Het
Cacna1a ACC ACCCCC 8: 84,638,717 (GRCm38) probably benign Het
Cacna1f AGG AGGGGG X: 7,620,058 (GRCm38) probably benign Het
Ccdc170 ACC ACCCCC 10: 4,561,026 (GRCm38) probably benign Het
Cckbr GGGC G 7: 105,434,681 (GRCm38) probably benign Homo
Cd3eap GGATG GG 7: 19,357,244 (GRCm38) probably benign Homo
Cd80 GAAA GAAAAAA 16: 38,486,319 (GRCm38) probably benign Homo
Ces1b T C 8: 93,068,092 (GRCm38) N293S probably null Homo
Cgnl1 CGC CGCGGC 9: 71,724,717 (GRCm38) probably benign Het
Cntnap1 CCCAGC CCCAGCGCCAGC 11: 101,189,572 (GRCm38) probably benign Het
Cntnap1 CCAGCC CCAGCCTCAGCC 11: 101,189,579 (GRCm38) probably benign Het
Cntnap1 AGCC AGCCCCCGCC 11: 101,189,593 (GRCm38) probably benign Het
Cntnap1 GCC GCCCCAACC 11: 101,189,594 (GRCm38) probably benign Het
Ctsm GTGA GTGAATGA 13: 61,537,837 (GRCm38) probably null Homo
Cttnbp2 TGCTGC TGCTGCCGCTGC 6: 18,367,463 (GRCm38) probably benign Het
Dbr1 GAGGAG GAGGAGTAGGAG 9: 99,583,673 (GRCm38) probably null Het
Dusp10 G T 1: 184,037,056 (GRCm38) C73F probably damaging Homo
Efna4 ATGTGAT A 3: 89,334,422 (GRCm38) probably benign Homo
Eif3a A ATTTTT 19: 60,775,291 (GRCm38) probably benign Homo
Ermn TC TCTCC 2: 58,048,088 (GRCm38) probably benign Het
Ermn TTC TTCATC 2: 58,048,075 (GRCm38) probably benign Het
Fbxo43 GTGCCT GTGCCTATGCCT 15: 36,152,098 (GRCm38) probably null Het
Fscb T A 12: 64,472,565 (GRCm38) Q709L unknown Het
Fscb A G 12: 64,472,563 (GRCm38) S710P unknown Het
Glod4 A C 11: 76,243,310 (GRCm38) probably benign Homo
Gm14401 A G 2: 177,086,868 (GRCm38) D249G probably benign Het
Gm4340 AGC AGCGGC 10: 104,196,073 (GRCm38) probably benign Het
Gm4340 AGC AGCCGC 10: 104,196,070 (GRCm38) probably benign Het
Gm8104 C T 14: 43,110,009 (GRCm38) T178I probably benign Het
Gm8104 T C 14: 43,110,011 (GRCm38) S179P probably damaging Het
Gpatch11 GGAAGA GGAAGACGAAGA 17: 78,842,175 (GRCm38) probably benign Het
H2-K1 GTTT G 17: 33,997,042 (GRCm38) probably benign Homo
Hist1h1t GAGAA GA 13: 23,695,920 (GRCm38) probably benign Homo
Hspa1b GCGCC GC 17: 34,957,129 (GRCm38) probably benign Homo
Ifi211 G A 1: 173,906,193 (GRCm38) A134V possibly damaging Het
Igf1r C CTGGAGATGGAGG 7: 68,226,186 (GRCm38) probably benign Het
Igkv9-129 G A 6: 67,840,034 (GRCm38) V41I probably damaging Het
Ipo9 TCC TCCCCC 1: 135,386,275 (GRCm38) probably benign Het
Kcng4 G T 8: 119,633,519 (GRCm38) Y39* probably null Homo
Klra2 AG AGAAATCCACGG 6: 131,221,851 (GRCm38) probably null Het
Kmt2b CTCC CTCCTCGTCC 7: 30,586,380 (GRCm38) probably benign Het
Kng2 G A 16: 23,000,552 (GRCm38) Q245* probably null Het
Kri1 CTCCTCTTCCTC CTCCTC 9: 21,281,050 (GRCm38) probably benign Het
Krt10 TCCTCCAC TCCTCCACCTCCAC 11: 99,389,276 (GRCm38) probably benign Homo
Krt10 TCCTCC TCCTCCCCCTCC 11: 99,389,273 (GRCm38) probably benign Het
Las1l TC TCTTCCGC X: 95,940,625 (GRCm38) probably benign Het
Las1l GAG GAGAAG X: 95,940,823 (GRCm38) probably benign Het
Lrit3 GCT GCTACT 3: 129,788,816 (GRCm38) probably benign Het
Lrit3 GCT GCTACT 3: 129,788,813 (GRCm38) probably benign Het
Luzp1 CTCTTCAGA CTCTTCAGAGGTGGCATCTTCAGA 4: 136,543,188 (GRCm38) probably benign Homo
Mast4 CA CAGTGGGA 13: 102,736,318 (GRCm38) probably benign Homo
Med12l AGC AGCGGC 3: 59,275,982 (GRCm38) probably benign Het
Mn1 GCA GCACCA 5: 111,419,698 (GRCm38) probably benign Het
Morn4 AGGCAGTGAG AGGCAGTGAGTCCGGCAGTGAG 19: 42,076,109 (GRCm38) probably benign Het
Msantd4 A T 9: 4,384,937 (GRCm38) I221F possibly damaging Homo
Mup21 TATACTT TATACTTTTTAAATACTT 4: 62,149,345 (GRCm38) probably benign Het
Mup21 ATACTT ATACTTTTTATCTACTT 4: 62,149,346 (GRCm38) probably benign Het
Nacad AGGGTC AGGGTCGGGGTC 11: 6,599,752 (GRCm38) probably benign Het
Nacad GG GGCCAGTG 11: 6,599,760 (GRCm38) probably benign Het
Ncapd2 CTT CTTGGTT 6: 125,173,596 (GRCm38) probably benign Homo
Nfxl1 CCGGGG CCGGGGTCGGGG 5: 72,559,115 (GRCm38) probably benign Het
Nkx2-6 C T 14: 69,175,229 (GRCm38) T282M probably damaging Homo
Noc2l AGGC AGGCGGC 4: 156,240,092 (GRCm38) probably benign Homo
Noc2l GC GCTTC 4: 156,240,100 (GRCm38) probably benign Het
Nphp3 CACG C 9: 104,025,939 (GRCm38) probably benign Het
Nrg3 TTG TTGACACTG 14: 38,397,271 (GRCm38) probably benign Homo
Olfr313 T A 11: 58,817,440 (GRCm38) V144D possibly damaging Homo
Olfr318 T G 11: 58,720,371 (GRCm38) I226L probably benign Het
Olfr585 T TTAG 7: 103,098,309 (GRCm38) probably null Homo
Olfr624 CAAA CAAAAAA 7: 103,670,960 (GRCm38) probably benign Homo
Olfr624 G GAAC 7: 103,670,967 (GRCm38) probably null Homo
Osmr CTC CTCTTC 15: 6,837,703 (GRCm38) probably benign Homo
Patl2 GCT GCTCCT 2: 122,126,135 (GRCm38) probably benign Het
Pdik1l ACCAC ACCACCGCCAC 4: 134,279,512 (GRCm38) probably benign Homo
Phldb3 GACCC G 7: 24,628,978 (GRCm38) probably null Het
Piezo1 G A 8: 122,495,569 (GRCm38) R503W probably damaging Homo
Pik3ap1 AG AGGGG 19: 41,281,945 (GRCm38) probably benign Homo
Pkdrej TG TGGGAGCG 15: 85,819,680 (GRCm38) probably benign Homo
Prag1 GC GCAAC 8: 36,103,885 (GRCm38) probably benign Homo
Prr13 TCC TCCGCC 15: 102,462,174 (GRCm38) probably benign Het
Prtg GTAAC G 9: 72,857,081 (GRCm38) probably benign Homo
Ptk2b C T 14: 66,173,849 (GRCm38) R411Q possibly damaging Het
Ptms TTC TTCGTC 6: 124,914,456 (GRCm38) probably benign Het
Ptpn23 G T 9: 110,387,633 (GRCm38) P1052T probably benign Homo
Rbm33 AGCAGCCGCAGC AGCAGC 5: 28,394,201 (GRCm38) probably benign Het
Setd1a TGGTGGTGGT TGGTGGTGGTGGTGGTGGT 7: 127,785,307 (GRCm38) probably benign Homo
Setd1a TGGTAGTGG TGGTAGTGGCGGTAGTGG 7: 127,785,313 (GRCm38) probably benign Homo
Sfswap AGCCCACTCGGCC AGCCCACTCGGCCCACTCGGCC 5: 129,569,755 (GRCm38) probably benign Homo
Sfswap CCACTCAGC CCACTCAGCGCACTCAGC 5: 129,569,749 (GRCm38) probably benign Het
Sh3pxd2b T TGTCTTG 11: 32,423,065 (GRCm38) probably benign Het
Sh3pxd2b GT GTGTCTCT 11: 32,423,064 (GRCm38) probably benign Homo
Shroom4 GCAGCAACA GCA X: 6,624,074 (GRCm38) probably benign Het
Six3 GGC GGCCGC 17: 85,621,363 (GRCm38) probably benign Het
Slc12a1 ACC ACCTTTGGCCACAACCCC 2: 125,154,214 (GRCm38) probably benign Homo
Spaca1 GC GCTCTCTC 4: 34,049,856 (GRCm38) probably benign Het
Spag17 AGG AGGCGG 3: 100,056,254 (GRCm38) probably benign Het
Srebf2 G T 15: 82,185,335 (GRCm38) A693S probably damaging Homo
Supt20 GCAGCA GCAGCACCAGCA 3: 54,727,657 (GRCm38) probably benign Het
Supt20 CAGCAG CAGCAGGAGCAG 3: 54,727,664 (GRCm38) probably benign Het
Supt20 CA CAGCAGAA 3: 54,727,673 (GRCm38) probably benign Het
Syne1 C A 10: 5,032,969 (GRCm38) S8652I probably benign Homo
Tob1 AGC AGCCGC 11: 94,214,469 (GRCm38) probably benign Het
Tob1 GCA GCAACA 11: 94,214,455 (GRCm38) probably benign Het
Tomm5 CTTCCGC CTTCCGCATTTTCCGC 4: 45,107,977 (GRCm38) probably benign Het
Trav15-2-dv6-2 G GAAA 14: 53,649,757 (GRCm38) probably benign Het
Triobp TCG TCGCCG 15: 78,993,390 (GRCm38) probably benign Homo
Triobp TCG TCGGCG 15: 78,993,387 (GRCm38) probably benign Het
Tsen2 GAG GAGAAG 6: 115,560,068 (GRCm38) probably benign Het
Ttf2 TC TCCGC 3: 100,963,160 (GRCm38) probably benign Homo
Tusc1 CGCCAC CGCCACTGCCAC 4: 93,335,303 (GRCm38) probably benign Het
Ubtf CTC CTCATC 11: 102,306,958 (GRCm38) probably benign Het
Utrn T TTCCTGTC 10: 12,633,941 (GRCm38) probably benign Homo
Vars TGG TGGAGTCCTGGGGGG 17: 35,015,989 (GRCm38) probably benign Homo
Vars G GAGTCCTGGGTGC 17: 35,015,991 (GRCm38) probably benign Het
Vmn2r99 G A 17: 19,394,285 (GRCm38) G756R probably damaging Het
Vps13b G T 15: 35,846,957 (GRCm38) A2629S probably damaging Homo
Zc3h13 TGCG TGCGTGATGAGCG 14: 75,323,599 (GRCm38) probably benign Het
Zdhhc16 CACA CACAACAGGGAAAGCAGTCTGTCAACA 19: 41,942,168 (GRCm38) probably null Het
Zfp26 C A 9: 20,438,546 (GRCm38) A241S probably benign Homo
Zfp335 TCC TCCCCC 2: 164,907,472 (GRCm38) probably benign Het
Zfp598 CACCAC CACCACAACCAC 17: 24,680,775 (GRCm38) probably benign Het
Zfp598 ACCACC ACCACCCCCACC 17: 24,680,776 (GRCm38) probably benign Het
Zfp933 TT TTTGCCT 4: 147,825,731 (GRCm38) probably null Het
Zfp986 G T 4: 145,899,358 (GRCm38) R196I probably benign Het
Zfp992 G T 4: 146,466,007 (GRCm38) E62* probably null Het
Other mutations in Ppp1r3f
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03224:Ppp1r3f APN X 7,560,582 (GRCm38) missense probably benign 0.21
FR4449:Ppp1r3f UTSW X 7,560,336 (GRCm38) missense probably damaging 1.00
FR4737:Ppp1r3f UTSW X 7,560,336 (GRCm38) missense probably damaging 1.00
FR4976:Ppp1r3f UTSW X 7,560,336 (GRCm38) missense probably damaging 1.00
LCD18:Ppp1r3f UTSW X 7,560,336 (GRCm38) missense probably damaging 1.00
R1446:Ppp1r3f UTSW X 7,560,363 (GRCm38) missense probably damaging 1.00
Z1177:Ppp1r3f UTSW X 7,574,071 (GRCm38) frame shift probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-04-05