Incidental Mutation 'R5447:Ppp4r4'
ID 429148
Institutional Source Beutler Lab
Gene Symbol Ppp4r4
Ensembl Gene ENSMUSG00000021209
Gene Name protein phosphatase 4, regulatory subunit 4
Synonyms 8430415E04Rik
MMRRC Submission 043012-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # R5447 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 103498542-103580090 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103550410 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 62 (V62A)
Ref Sequence ENSEMBL: ENSMUSP00000140295 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021631] [ENSMUST00000187155] [ENSMUST00000189871] [ENSMUST00000190664]
AlphaFold Q8C0Y0
Predicted Effect probably benign
Transcript: ENSMUST00000021631
AA Change: V278A

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000021631
Gene: ENSMUSG00000021209
AA Change: V278A

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: V169A

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000140874
Gene: ENSMUSG00000021209
AA Change: V169A

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: V278A

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000139786
Gene: ENSMUSG00000021209
AA Change: V278A

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
Predicted Effect possibly damaging
Transcript: ENSMUST00000190664
AA Change: V62A

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000140295
Gene: ENSMUSG00000021209
AA Change: V62A

DomainStartEndE-ValueType
Pfam:HEAT 38 68 5.8e-4 PFAM
Meta Mutation Damage Score 0.1121 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 97% (71/73)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T C 12: 118,891,061 (GRCm39) I479V probably damaging Het
Adam30 A G 3: 98,068,659 (GRCm39) D164G probably benign Het
Adgrl3 T A 5: 81,613,188 (GRCm39) probably benign Het
Adrb1 T C 19: 56,711,519 (GRCm39) I239T probably benign Het
Albfm1 C A 5: 90,732,169 (GRCm39) A458E probably damaging Het
B4galnt3 T C 6: 120,192,018 (GRCm39) T572A probably benign Het
Baz2b T C 2: 59,744,332 (GRCm39) E1391G probably damaging Het
BC016579 A G 16: 45,469,252 (GRCm39) V72A probably benign Het
Btnl10 A T 11: 58,813,144 (GRCm39) I258F probably benign Het
Cdh5 A T 8: 104,855,994 (GRCm39) D309V probably damaging Het
Cdhr2 A G 13: 54,881,063 (GRCm39) D1042G probably damaging Het
Clk2 G T 3: 89,074,498 (GRCm39) V53F possibly damaging Het
Cyfip2 T C 11: 46,182,413 (GRCm39) D15G possibly damaging Het
Dip2b C T 15: 100,109,867 (GRCm39) R1451C probably damaging Het
Dmbt1 A G 7: 130,721,240 (GRCm39) Y1836C probably damaging Het
Dysf T C 6: 84,172,245 (GRCm39) F1905L probably damaging Het
E130114P18Rik A G 4: 97,578,955 (GRCm39) S7P unknown Het
Fam110a T C 2: 151,812,629 (GRCm39) E47G probably damaging Het
Gemin6 T G 17: 80,535,178 (GRCm39) V46G probably damaging Het
Helb T A 10: 119,938,806 (GRCm39) D556V possibly damaging Het
Hoxd4 A G 2: 74,557,687 (GRCm39) E22G probably damaging Het
Hsd17b8 A T 17: 34,245,886 (GRCm39) V202D probably damaging Het
Il1rl2 T G 1: 40,368,316 (GRCm39) I162R probably damaging Het
Lhfpl5 A G 17: 28,795,071 (GRCm39) T33A probably damaging Het
Mapk8ip3 G A 17: 25,118,163 (GRCm39) A1283V probably benign Het
Mettl13 A G 1: 162,363,449 (GRCm39) V227A probably benign Het
Mmgt2 T A 11: 62,555,824 (GRCm39) C57* probably null Het
Muc4 G C 16: 32,753,919 (GRCm38) R1265P probably benign Het
Mylk2 T C 2: 152,754,430 (GRCm39) S175P probably damaging Het
Neu4 C T 1: 93,950,140 (GRCm39) T33M probably damaging Het
Nfs1 C T 2: 155,984,056 (GRCm39) R107H probably benign Het
Nfxl1 C T 5: 72,686,512 (GRCm39) R563Q probably benign Het
Nid1 A G 13: 13,612,495 (GRCm39) D70G probably benign Het
Nup160 C A 2: 90,555,959 (GRCm39) Q1220K possibly damaging Het
Or1ad8 G A 11: 50,898,170 (GRCm39) V124M possibly damaging Het
Or1e22 A G 11: 73,377,002 (GRCm39) V216A probably benign Het
Or52s6 A C 7: 103,092,147 (GRCm39) M61R probably damaging Het
Or5k8 A T 16: 58,644,846 (GRCm39) C75* probably null Het
Pdgfrb T A 18: 61,201,180 (GRCm39) V422E probably damaging Het
Pear1 G A 3: 87,666,449 (GRCm39) R85C probably damaging Het
Pkhd1 T A 1: 20,309,609 (GRCm39) M2780L probably benign Het
Prol1 C T 5: 88,476,125 (GRCm39) P172S unknown Het
Proz A G 8: 13,122,578 (GRCm39) I231V probably benign Het
Ptch1 T G 13: 63,675,059 (GRCm39) M718L probably benign Het
Ptprs A G 17: 56,736,128 (GRCm39) C102R possibly damaging Het
Robo2 A T 16: 73,770,654 (GRCm39) Y490* probably null Het
Rptor G A 11: 119,734,539 (GRCm39) G514D probably damaging Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Skint6 T A 4: 112,963,106 (GRCm39) S442C probably benign Het
Snw1 T C 12: 87,502,485 (GRCm39) E303G probably benign Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Stam2 G A 2: 52,626,305 (GRCm39) probably benign Het
Stk10 C T 11: 32,554,166 (GRCm39) Q618* probably null Het
Tmc3 A T 7: 83,271,569 (GRCm39) E907V possibly damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ttn T A 2: 76,729,451 (GRCm39) probably benign Het
Vps39 T C 2: 120,183,413 (GRCm39) D19G probably benign Het
Zan T C 5: 137,470,453 (GRCm39) S229G probably damaging Het
Zfp141 A T 7: 42,124,983 (GRCm39) C496* probably null Het
Zgrf1 T C 3: 127,356,768 (GRCm39) S665P possibly damaging 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
R0114:Ppp4r4 UTSW 12 103,542,633 (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
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'- GCTCGCTCAGTTGATTTATTAGAG -3'
(R):5'- GTCATGTTCTGATGAGAGAAATGAG -3'

Sequencing Primer
(F):5'- CTCAGTTGATTTATTAGAGTCTGGC -3'
(R):5'- CACAAATTCCATGATGGTAAGAGC -3'
Posted On 2016-09-06