Incidental Mutation 'R0114:Ppp4r4'
ID 20676
Institutional Source Beutler Lab
Gene Symbol Ppp4r4
Ensembl Gene ENSMUSG00000021209
Gene Name protein phosphatase 4, regulatory subunit 4
Synonyms 8430415E04Rik
MMRRC Submission 038400-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # R0114 (G1)
Quality Score 209
Status Validated (trace)
Chromosome 12
Chromosomal Location 103498542-103580090 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103542633 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 132 (C132S)
Ref Sequence ENSEMBL: ENSMUSP00000139786 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021631] [ENSMUST00000187155] [ENSMUST00000189871]
AlphaFold Q8C0Y0
Predicted Effect probably benign
Transcript: ENSMUST00000021631
AA Change: C132S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000021631
Gene: ENSMUSG00000021209
AA Change: C132S

DomainStartEndE-ValueType
SCOP:d1gw5a_ 55 577 6e-27 SMART
PDB:3FGA|A 178 666 8e-6 PDB
coiled coil region 690 726 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000187155
AA Change: C23S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000140874
Gene: ENSMUSG00000021209
AA Change: C23S

DomainStartEndE-ValueType
Pfam:HEAT 145 175 2.8e-3 PFAM
low complexity region 484 495 N/A INTRINSIC
coiled coil region 581 617 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000189871
AA Change: C132S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000139786
Gene: ENSMUSG00000021209
AA Change: C132S

DomainStartEndE-ValueType
SCOP:d1gw5a_ 95 577 7e-26 SMART
PDB:1B3U|B 178 666 2e-6 PDB
coiled coil region 690 726 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.4%
  • 10x: 93.2%
  • 20x: 79.2%
Validation Efficiency 100% (99/99)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a HEAT-like repeat-containing protein. The HEAT repeat is a tandemly repeated, 37-47 amino acid long module occurring in a number of cytoplasmic proteins. Arrays of HEAT repeats form a rod-like helical structure and appear to function as protein-protein interaction surfaces. The repeat-containing region of this protein has some similarity to the constant regulatory domain of the protein phosphatase 2A PR65/A subunit. The encoded protein binds protein serine/threonine phosphatase 4c in the cytoplasm. [provided by RefSeq, Jan 2017]
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik T C 10: 28,861,978 (GRCm39) probably benign Het
4933427D14Rik T C 11: 72,086,625 (GRCm39) Y262C probably damaging Het
Adamts1 C A 16: 85,596,502 (GRCm39) V379L probably benign Het
Akt3 T C 1: 176,894,817 (GRCm39) D260G probably damaging Het
Alms1 T C 6: 85,596,785 (GRCm39) L537P probably benign Het
Anln A T 9: 22,264,642 (GRCm39) I876N probably damaging Het
Ano9 A T 7: 140,683,152 (GRCm39) probably benign Het
Arhgef10l T C 4: 140,311,194 (GRCm39) E218G probably benign Het
Arnt2 G A 7: 83,996,738 (GRCm39) R63C probably damaging Het
Atp9a G T 2: 168,552,776 (GRCm39) Y63* probably null Het
Bmpr2 G T 1: 59,854,499 (GRCm39) C116F probably damaging Het
Cand1 T C 10: 119,052,427 (GRCm39) D233G probably benign Het
Cftr A T 6: 18,282,447 (GRCm39) H1049L probably damaging Het
Ckap5 A T 2: 91,450,457 (GRCm39) D1975V possibly damaging Het
Cyp26c1 T C 19: 37,675,081 (GRCm39) V134A probably benign Het
Dnai1 T C 4: 41,605,686 (GRCm39) probably benign Het
Dpp10 T C 1: 123,413,821 (GRCm39) I163V probably benign Het
Fam151a A T 4: 106,591,201 (GRCm39) I15F possibly damaging Het
Fanca A T 8: 124,015,230 (GRCm39) probably null Het
Fes A G 7: 80,027,783 (GRCm39) V787A probably damaging Het
Fnip1 C T 11: 54,378,627 (GRCm39) probably benign Het
Gabpb1 A G 2: 126,495,494 (GRCm39) I86T probably damaging Het
Gmds A T 13: 32,411,264 (GRCm39) S57T probably benign Het
Gnpat T G 8: 125,610,096 (GRCm39) D426E probably benign Het
Gnptab C A 10: 88,269,262 (GRCm39) P655Q possibly damaging Het
Gpi-ps A G 8: 5,690,359 (GRCm39) noncoding transcript Het
Herc1 T A 9: 66,369,128 (GRCm39) F2941I probably damaging Het
Herc2 T C 7: 55,803,522 (GRCm39) probably benign Het
Ino80 G A 2: 119,213,441 (GRCm39) R1249C probably damaging Het
Itga11 T G 9: 62,642,575 (GRCm39) V166G probably damaging Het
Itga11 T C 9: 62,667,584 (GRCm39) V639A possibly damaging Het
Itpr2 A G 6: 146,214,377 (GRCm39) F1490S probably damaging Het
Lama2 C A 10: 26,869,064 (GRCm39) E802* probably null Het
Lgi3 C T 14: 70,768,469 (GRCm39) probably benign Het
Limch1 C T 5: 67,193,427 (GRCm39) probably benign Het
Lipc T C 9: 70,711,063 (GRCm39) N363S probably damaging Het
Lrit2 A G 14: 36,790,002 (GRCm39) probably null Het
Mfsd13a C T 19: 46,354,943 (GRCm39) T40I probably benign Het
Mug2 A G 6: 122,017,607 (GRCm39) Y448C probably damaging Het
Mybpc3 A G 2: 90,954,839 (GRCm39) E450G probably damaging Het
Myo5b A T 18: 74,875,242 (GRCm39) T1549S probably benign Het
Naa15 T C 3: 51,355,859 (GRCm39) probably null Het
Nckap1l T A 15: 103,363,455 (GRCm39) C54S probably benign Het
Nlrp9b A G 7: 19,757,981 (GRCm39) D406G probably benign Het
Nprl3 T A 11: 32,189,784 (GRCm39) probably benign Het
Nvl A G 1: 180,947,956 (GRCm39) V429A probably benign Het
Opa1 A T 16: 29,448,453 (GRCm39) N912Y probably benign Het
Or14j3 A T 17: 37,900,306 (GRCm39) *313K probably null Het
Or1x2 G A 11: 50,918,431 (GRCm39) V201I probably benign Het
Or52b4i A T 7: 102,191,938 (GRCm39) Q265L probably benign Het
Or6c211 T A 10: 129,505,467 (GRCm39) Y307F probably benign Het
Pcnx1 T C 12: 82,042,869 (GRCm39) V2317A possibly damaging Het
Phf3 A T 1: 30,844,524 (GRCm39) N1478K possibly damaging Het
Phykpl G A 11: 51,477,480 (GRCm39) D91N probably benign Het
Polr2b T A 5: 77,491,110 (GRCm39) C984S probably damaging Het
Ppfibp1 A G 6: 146,899,731 (GRCm39) R141G probably benign Het
Ppm1d G A 11: 85,217,731 (GRCm39) G20R probably damaging Het
Ppp1r16a C T 15: 76,574,999 (GRCm39) probably benign Het
Ppp2r5b C A 19: 6,278,461 (GRCm39) V483F probably benign Het
Prg2 A G 2: 84,813,800 (GRCm39) probably benign Het
Prpf4b G A 13: 35,074,471 (GRCm39) probably benign Het
Rad54l2 T C 9: 106,590,654 (GRCm39) T491A probably damaging Het
Rnf213 G T 11: 119,305,413 (GRCm39) W548L probably damaging Het
Rusc2 G T 4: 43,422,055 (GRCm39) C825F probably damaging Het
Sema4b A G 7: 79,868,826 (GRCm39) probably benign Het
Sema6a A G 18: 47,423,244 (GRCm39) V254A probably damaging Het
Slc13a3 A G 2: 165,266,501 (GRCm39) F346L probably damaging Het
Slc25a17 T C 15: 81,222,160 (GRCm39) D104G probably damaging Het
Specc1 A T 11: 62,037,139 (GRCm39) N707Y possibly damaging Het
Tex48 T A 4: 63,526,696 (GRCm39) E76V probably damaging Het
Tfr2 T C 5: 137,575,727 (GRCm39) V281A probably benign Het
Tgfb1i1 A C 7: 127,848,666 (GRCm39) Q238H probably damaging Het
Thoc6 G A 17: 23,889,213 (GRCm39) T122I probably benign Het
Tmtc1 G A 6: 148,314,328 (GRCm39) probably benign Het
Tnfrsf8 T C 4: 145,014,617 (GRCm39) D264G possibly damaging Het
Trim43a T A 9: 88,466,213 (GRCm39) I178N probably damaging Het
Ttn G C 2: 76,537,437 (GRCm39) I26503M possibly damaging Het
Usp28 C A 9: 48,950,323 (GRCm39) D589E probably benign Het
Utp23 T C 15: 51,745,907 (GRCm39) S242P probably damaging Het
Vwa3a A G 7: 120,374,603 (GRCm39) Y305C probably benign Het
Vwa5b1 C A 4: 138,336,169 (GRCm39) E142* probably null Het
Xrn2 A T 2: 146,871,699 (GRCm39) T374S probably damaging Het
Zfp735 A T 11: 73,601,488 (GRCm39) Q144L probably benign Het
Other mutations in Ppp4r4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00827:Ppp4r4 APN 12 103,545,335 (GRCm39) missense probably benign
IGL01388:Ppp4r4 APN 12 103,543,108 (GRCm39) missense probably damaging 1.00
IGL01662:Ppp4r4 APN 12 103,569,225 (GRCm39) missense possibly damaging 0.55
IGL01768:Ppp4r4 APN 12 103,547,664 (GRCm39) missense probably benign 0.12
IGL01894:Ppp4r4 APN 12 103,559,397 (GRCm39) missense probably damaging 1.00
IGL01921:Ppp4r4 APN 12 103,542,569 (GRCm39) start codon destroyed probably null 0.01
IGL01960:Ppp4r4 APN 12 103,547,753 (GRCm39) splice site probably benign
IGL02084:Ppp4r4 APN 12 103,566,657 (GRCm39) missense possibly damaging 0.93
IGL02287:Ppp4r4 APN 12 103,553,747 (GRCm39) missense probably benign 0.01
IGL02315:Ppp4r4 APN 12 103,566,620 (GRCm39) splice site probably benign
IGL03137:Ppp4r4 APN 12 103,547,643 (GRCm39) missense probably damaging 1.00
IGL03170:Ppp4r4 APN 12 103,557,033 (GRCm39) intron probably benign
cataract UTSW 12 103,579,074 (GRCm39) nonsense probably null
downfall UTSW 12 103,559,357 (GRCm39) missense probably benign 0.00
R0390:Ppp4r4 UTSW 12 103,567,619 (GRCm39) splice site probably benign
R0403:Ppp4r4 UTSW 12 103,550,361 (GRCm39) missense probably benign
R0548:Ppp4r4 UTSW 12 103,579,074 (GRCm39) nonsense probably null
R0601:Ppp4r4 UTSW 12 103,566,779 (GRCm39) splice site probably benign
R0894:Ppp4r4 UTSW 12 103,566,754 (GRCm39) missense probably damaging 0.99
R1127:Ppp4r4 UTSW 12 103,545,327 (GRCm39) missense probably damaging 1.00
R1177:Ppp4r4 UTSW 12 103,542,582 (GRCm39) missense possibly damaging 0.82
R1378:Ppp4r4 UTSW 12 103,547,751 (GRCm39) splice site probably benign
R1442:Ppp4r4 UTSW 12 103,564,504 (GRCm39) missense probably damaging 0.97
R1497:Ppp4r4 UTSW 12 103,573,204 (GRCm39) missense probably benign 0.07
R1651:Ppp4r4 UTSW 12 103,550,331 (GRCm39) missense probably benign 0.01
R1797:Ppp4r4 UTSW 12 103,564,410 (GRCm39) missense possibly damaging 0.95
R1880:Ppp4r4 UTSW 12 103,571,294 (GRCm39) missense possibly damaging 0.62
R2008:Ppp4r4 UTSW 12 103,552,016 (GRCm39) missense probably damaging 1.00
R2038:Ppp4r4 UTSW 12 103,542,539 (GRCm39) critical splice acceptor site probably null
R2404:Ppp4r4 UTSW 12 103,547,749 (GRCm39) splice site probably null
R2696:Ppp4r4 UTSW 12 103,547,653 (GRCm39) missense possibly damaging 0.77
R2849:Ppp4r4 UTSW 12 103,573,192 (GRCm39) missense probably benign 0.00
R2965:Ppp4r4 UTSW 12 103,579,080 (GRCm39) missense probably damaging 1.00
R3030:Ppp4r4 UTSW 12 103,573,215 (GRCm39) missense probably benign
R3805:Ppp4r4 UTSW 12 103,566,625 (GRCm39) missense probably damaging 0.99
R3862:Ppp4r4 UTSW 12 103,562,680 (GRCm39) nonsense probably null
R4194:Ppp4r4 UTSW 12 103,524,704 (GRCm39) missense probably damaging 1.00
R4320:Ppp4r4 UTSW 12 103,564,502 (GRCm39) missense probably damaging 1.00
R4558:Ppp4r4 UTSW 12 103,573,192 (GRCm39) missense probably benign 0.00
R4783:Ppp4r4 UTSW 12 103,557,117 (GRCm39) critical splice donor site probably null
R4866:Ppp4r4 UTSW 12 103,566,706 (GRCm39) missense possibly damaging 0.92
R4903:Ppp4r4 UTSW 12 103,557,030 (GRCm39) splice site probably null
R5309:Ppp4r4 UTSW 12 103,573,147 (GRCm39) splice site probably null
R5312:Ppp4r4 UTSW 12 103,573,147 (GRCm39) splice site probably null
R5381:Ppp4r4 UTSW 12 103,559,357 (GRCm39) missense probably benign 0.00
R5383:Ppp4r4 UTSW 12 103,550,427 (GRCm39) missense probably benign 0.14
R5447:Ppp4r4 UTSW 12 103,550,410 (GRCm39) missense possibly damaging 0.67
R5942:Ppp4r4 UTSW 12 103,553,706 (GRCm39) missense possibly damaging 0.92
R6339:Ppp4r4 UTSW 12 103,571,228 (GRCm39) nonsense probably null
R6386:Ppp4r4 UTSW 12 103,559,364 (GRCm39) missense probably damaging 1.00
R6712:Ppp4r4 UTSW 12 103,562,702 (GRCm39) missense probably damaging 1.00
R6755:Ppp4r4 UTSW 12 103,551,996 (GRCm39) missense probably damaging 1.00
R6868:Ppp4r4 UTSW 12 103,557,111 (GRCm39) missense probably damaging 1.00
R6879:Ppp4r4 UTSW 12 103,518,179 (GRCm39) splice site probably null
R7355:Ppp4r4 UTSW 12 103,570,841 (GRCm39) nonsense probably null
R7397:Ppp4r4 UTSW 12 103,579,065 (GRCm39) critical splice acceptor site probably null
R7447:Ppp4r4 UTSW 12 103,551,985 (GRCm39) missense possibly damaging 0.46
R7576:Ppp4r4 UTSW 12 103,562,708 (GRCm39) missense probably damaging 0.97
R7653:Ppp4r4 UTSW 12 103,550,404 (GRCm39) missense probably damaging 0.98
R7683:Ppp4r4 UTSW 12 103,553,364 (GRCm39) nonsense probably null
R7748:Ppp4r4 UTSW 12 103,571,320 (GRCm39) critical splice donor site probably null
R7831:Ppp4r4 UTSW 12 103,557,080 (GRCm39) missense possibly damaging 0.76
R7833:Ppp4r4 UTSW 12 103,564,407 (GRCm39) missense probably benign 0.03
R8238:Ppp4r4 UTSW 12 103,557,066 (GRCm39) missense probably benign 0.20
R8559:Ppp4r4 UTSW 12 103,559,420 (GRCm39) missense probably benign 0.04
R8674:Ppp4r4 UTSW 12 103,562,720 (GRCm39) missense probably damaging 0.97
R8799:Ppp4r4 UTSW 12 103,567,623 (GRCm39) missense possibly damaging 0.60
R8847:Ppp4r4 UTSW 12 103,562,747 (GRCm39) missense probably damaging 1.00
R8968:Ppp4r4 UTSW 12 103,566,706 (GRCm39) missense probably benign 0.00
R9075:Ppp4r4 UTSW 12 103,570,290 (GRCm39) nonsense probably null
R9106:Ppp4r4 UTSW 12 103,570,315 (GRCm39) missense probably benign 0.01
R9393:Ppp4r4 UTSW 12 103,571,296 (GRCm39) nonsense probably null
R9508:Ppp4r4 UTSW 12 103,542,561 (GRCm39) missense possibly damaging 0.65
R9520:Ppp4r4 UTSW 12 103,500,378 (GRCm39) missense probably benign 0.00
R9636:Ppp4r4 UTSW 12 103,564,688 (GRCm39) missense unknown
R9641:Ppp4r4 UTSW 12 103,567,811 (GRCm39) missense probably benign 0.15
R9765:Ppp4r4 UTSW 12 103,550,346 (GRCm39) nonsense probably null
R9766:Ppp4r4 UTSW 12 103,562,735 (GRCm39) missense probably benign 0.40
X0025:Ppp4r4 UTSW 12 103,566,739 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTAGTGCGTCCATAACCTTGGCTC -3'
(R):5'- TGCGACATGCTAGGTTAAACACCTC -3'

Sequencing Primer
(F):5'- GTCCATAACCTTGGCTCTTATAAC -3'
(R):5'- CTAGGTTAAACACCTCAGGGGC -3'
Posted On 2013-04-11