Incidental Mutation 'R1446:Ppp1r3f'
ID 158917
Institutional Source Beutler Lab
Gene Symbol Ppp1r3f
Ensembl Gene ENSMUSG00000039556
Gene Name protein phosphatase 1, regulatory subunit 3F
Synonyms RF3, Sfc15, DXImx48e
MMRRC Submission 039501-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.031) question?
Stock # R1446 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 7424815-7440541 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 7426602 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 553 (T553M)
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: T552M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000111407
Gene: ENSMUSG00000039556
AA Change: T552M

DomainStartEndE-ValueType
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: T231M
SMART Domains Protein: ENSMUSP00000116002
Gene: ENSMUSG00000039556
AA Change: T231M

DomainStartEndE-ValueType
low complexity region 249 260 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142447
Predicted Effect probably damaging
Transcript: ENSMUST00000150787
AA Change: T553M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122903
Gene: ENSMUSG00000039556
AA Change: T553M

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.6%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh C T 5: 77,034,136 (GRCm39) A472T probably benign Het
Adcy4 A T 14: 56,007,480 (GRCm39) probably null Het
Ahcyl2 T C 6: 29,891,239 (GRCm39) S448P probably damaging Het
Anks1b A G 10: 90,346,935 (GRCm39) Y745C probably benign Het
Anxa1 A T 19: 20,351,103 (GRCm39) L339Q probably damaging Het
Apoa4 A G 9: 46,153,591 (GRCm39) D64G probably benign Het
Arpc1a A G 5: 145,037,896 (GRCm39) probably null Het
Bank1 C T 3: 135,769,904 (GRCm39) G727R probably damaging Het
Best2 T C 8: 85,734,593 (GRCm39) Q375R probably benign Het
Cacna1b T A 2: 24,596,189 (GRCm39) M501L probably benign Het
Col27a1 T A 4: 63,143,040 (GRCm39) Y243N probably damaging Het
Cyp11a1 A T 9: 57,922,560 (GRCm39) Q80L possibly damaging Het
Dnah10 T A 5: 124,866,860 (GRCm39) W2260R probably damaging Het
Dnajc19 T C 3: 34,112,128 (GRCm39) H139R probably benign Het
Dppa5a T A 9: 78,275,071 (GRCm39) N77I probably benign Het
Edc4 T C 8: 106,614,764 (GRCm39) S125P probably damaging Het
Eid2 T C 7: 27,968,014 (GRCm39) I212T possibly damaging Het
Fam234b T A 6: 135,186,328 (GRCm39) probably null Het
Frem2 T C 3: 53,562,017 (GRCm39) E830G probably benign Het
Fyb1 A T 15: 6,681,947 (GRCm39) I765L probably benign Het
Fyn T G 10: 39,398,775 (GRCm39) S124A probably benign Het
Gal3st3 T A 19: 5,356,939 (GRCm39) F105I probably damaging Het
Gpr146 A G 5: 139,379,177 (GRCm39) I326M probably benign Het
Grk2 G A 19: 4,337,437 (GRCm39) R617C possibly damaging Het
Gsn A G 2: 35,196,598 (GRCm39) K669R probably benign Het
H2-T10 A T 17: 36,430,266 (GRCm39) I225N possibly damaging Het
Il12rb2 T C 6: 67,286,127 (GRCm39) H106R probably benign Het
Kat14 A G 2: 144,215,638 (GRCm39) E41G probably damaging Het
Kcnma1 G T 14: 23,361,792 (GRCm39) T1006K probably damaging Het
Kif18b G A 11: 102,805,525 (GRCm39) T244I probably damaging Het
Klb A T 5: 65,506,338 (GRCm39) H195L probably damaging Het
Lrriq4 T C 3: 30,704,727 (GRCm39) F252L probably benign Het
Lum C T 10: 97,404,252 (GRCm39) T49I possibly damaging Het
Map3k4 T A 17: 12,475,681 (GRCm39) L84* probably null Het
Mindy2 A G 9: 70,514,738 (GRCm39) probably null Het
Mpped2 G T 2: 106,614,077 (GRCm39) R137L possibly damaging Het
Myo18b G A 5: 112,905,425 (GRCm39) R2058W probably damaging Het
Nol8 T A 13: 49,808,703 (GRCm39) L65Q probably damaging Het
Or11g27 T C 14: 50,771,159 (GRCm39) S97P possibly damaging Het
Or4c108 A G 2: 88,804,109 (GRCm39) I42T probably benign Het
Or4x6 A T 2: 89,949,202 (GRCm39) L247M probably damaging Het
Or5b105 G A 19: 13,080,380 (GRCm39) A96V possibly damaging Het
Or5g9 A G 2: 85,551,917 (GRCm39) H56R probably damaging Het
Or8b3 T G 9: 38,314,601 (GRCm39) C144G possibly damaging Het
Or9a4 C T 6: 40,548,833 (GRCm39) S171L probably benign Het
Parp12 G T 6: 39,079,495 (GRCm39) D338E probably benign Het
Pde6d T C 1: 86,474,414 (GRCm39) E77G probably damaging Het
Phkg1 A C 5: 129,902,055 (GRCm39) probably null Het
Pigw A C 11: 84,769,186 (GRCm39) S48A probably benign Het
Pkm T A 9: 59,576,193 (GRCm39) probably null Het
Retreg2 T A 1: 75,120,103 (GRCm39) F44L possibly damaging Het
Ryr2 A T 13: 11,753,035 (GRCm39) M1762K probably benign Het
Sec16a A G 2: 26,313,579 (GRCm39) V1927A probably benign Het
Sec23a G T 12: 59,025,345 (GRCm39) A492E probably damaging Het
Skint4 T A 4: 111,975,311 (GRCm39) H82Q probably benign Het
Srbd1 T C 17: 86,446,580 (GRCm39) K60E probably benign Het
Stk24 A G 14: 121,545,456 (GRCm39) Y101H probably damaging Het
Sult1e1 A T 5: 87,726,396 (GRCm39) N239K probably damaging Het
Tgs1 C T 4: 3,604,848 (GRCm39) P757S probably damaging Het
Tmc2 A T 2: 130,090,650 (GRCm39) E665D probably damaging Het
Tmprss15 C A 16: 78,875,846 (GRCm39) D163Y probably benign Het
Unc13a C A 8: 72,101,625 (GRCm39) V1009L possibly damaging Het
Unc45b G T 11: 82,819,496 (GRCm39) G490C probably damaging Het
Vmn1r177 T A 7: 23,565,765 (GRCm39) H37L probably damaging Het
Vwa5a A G 9: 38,645,264 (GRCm39) M450V possibly damaging Het
Wars2 T C 3: 99,094,843 (GRCm39) I46T probably benign Het
Wdfy3 G T 5: 101,999,176 (GRCm39) T3098K possibly damaging Het
Zan A T 5: 137,387,622 (GRCm39) I4863N unknown Het
Zfp616 A G 11: 73,974,064 (GRCm39) probably null Het
Zfp770 A T 2: 114,027,514 (GRCm39) I185N probably damaging Het
Zfp808 T G 13: 62,320,821 (GRCm39) H683Q probably damaging Het
Zmym4 A T 4: 126,776,275 (GRCm39) W1221R probably damaging Het
Other mutations in Ppp1r3f
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03224:Ppp1r3f APN X 7,426,821 (GRCm39) missense probably benign 0.21
FR4449:Ppp1r3f UTSW X 7,426,575 (GRCm39) missense probably damaging 1.00
FR4548:Ppp1r3f UTSW X 7,426,575 (GRCm39) missense probably damaging 1.00
FR4737:Ppp1r3f UTSW X 7,426,575 (GRCm39) missense probably damaging 1.00
FR4976:Ppp1r3f UTSW X 7,426,575 (GRCm39) missense probably damaging 1.00
LCD18:Ppp1r3f UTSW X 7,426,575 (GRCm39) missense probably damaging 1.00
Z1177:Ppp1r3f UTSW X 7,440,310 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- TTCCCAGAACCACTGGGCTATCAC -3'
(R):5'- TTGGAGCAGCTCTACCTGTCTCAC -3'

Sequencing Primer
(F):5'- CTGGGCTATCACATCTAGAGC -3'
(R):5'- ACCTGAGCCGCTTGAGAG -3'
Posted On 2014-03-14