Incidental Mutation 'R7447:Ppp4r4'
ID 577381
Institutional Source Beutler Lab
Gene Symbol Ppp4r4
Ensembl Gene ENSMUSG00000021209
Gene Name protein phosphatase 4, regulatory subunit 4
Synonyms 8430415E04Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # R7447 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 103498542-103580090 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103551985 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 293 (I293M)
Ref Sequence ENSEMBL: ENSMUSP00000021631 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021631] [ENSMUST00000187155] [ENSMUST00000189871] [ENSMUST00000190664]
AlphaFold Q8C0Y0
Predicted Effect possibly damaging
Transcript: ENSMUST00000021631
AA Change: I293M

PolyPhen 2 Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000021631
Gene: ENSMUSG00000021209
AA Change: I293M

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 possibly damaging
Transcript: ENSMUST00000187155
AA Change: I184M

PolyPhen 2 Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000140874
Gene: ENSMUSG00000021209
AA Change: I184M

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 possibly damaging
Transcript: ENSMUST00000189871
AA Change: I293M

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000139786
Gene: ENSMUSG00000021209
AA Change: I293M

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: I77M

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000140295
Gene: ENSMUSG00000021209
AA Change: I77M

DomainStartEndE-ValueType
Pfam:HEAT 38 68 5.8e-4 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 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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck5 A T 15: 76,479,396 (GRCm39) I484F possibly damaging Het
Ago2 A T 15: 73,009,881 (GRCm39) N100K probably benign Het
Appl1 T A 14: 26,681,409 (GRCm39) K130* probably null Het
Arhgap39 G A 15: 76,649,797 (GRCm39) probably benign Het
Axdnd1 A G 1: 156,245,802 (GRCm39) probably null Het
Camta1 A T 4: 151,168,327 (GRCm39) V1332E probably benign Het
Cd3g A G 9: 44,884,857 (GRCm39) L129P probably damaging Het
Cd80 T G 16: 38,294,251 (GRCm39) S45A probably benign Het
Cdk12 A T 11: 98,136,106 (GRCm39) Q1120L unknown Het
Clip1 G A 5: 123,791,696 (GRCm39) S158F probably benign Het
Cntn3 C A 6: 102,255,416 (GRCm39) E161* probably null Het
Cyp3a59 A C 5: 146,024,215 (GRCm39) K67T probably benign Het
Dmxl1 T C 18: 49,997,681 (GRCm39) L623P probably damaging Het
Drd3 T A 16: 43,637,426 (GRCm39) Y208* probably null Het
Dusp10 A T 1: 183,801,153 (GRCm39) M307L probably benign Het
Dync2li1 A T 17: 84,955,141 (GRCm39) I267L possibly damaging Het
Dynlt2b T A 16: 32,244,089 (GRCm39) V95E probably damaging Het
Edn3 C A 2: 174,603,544 (GRCm39) C97* probably null Het
Ehbp1l1 T A 19: 5,769,456 (GRCm39) T616S possibly damaging Het
Eif2a C T 3: 58,452,963 (GRCm39) T246I probably damaging Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Errfi1 A G 4: 150,951,108 (GRCm39) T179A probably damaging Het
Esyt3 G A 9: 99,203,615 (GRCm39) L450F probably damaging Het
Evx2 A G 2: 74,489,448 (GRCm39) S106P probably benign Het
Fam83a T G 15: 57,873,086 (GRCm39) V305G probably benign Het
Fem1al T C 11: 29,774,122 (GRCm39) D445G probably benign Het
Gpr171 T A 3: 59,005,860 (GRCm39) probably null Het
Grip1 A G 10: 119,922,871 (GRCm39) T1106A probably benign Het
Hecw1 A G 13: 14,531,789 (GRCm39) Y162H probably damaging Het
Hephl1 C T 9: 15,009,178 (GRCm39) probably null Het
Hsp90aa1 A G 12: 110,658,562 (GRCm39) I693T possibly damaging Het
Ifit1bl2 T A 19: 34,596,974 (GRCm39) D214V probably damaging Het
Igsf10 T C 3: 59,239,222 (GRCm39) M320V probably benign Het
Kcnq2 A G 2: 180,754,887 (GRCm39) L220P probably damaging Het
Kpna1 C A 16: 35,850,009 (GRCm39) Q372K probably damaging Het
Lilrb4a T G 10: 51,367,149 (GRCm39) probably null Het
Ly75 C A 2: 60,164,818 (GRCm39) E787* probably null Het
Magi1 T G 6: 93,722,562 (GRCm39) S666R possibly damaging Het
Mif C A 10: 75,695,687 (GRCm39) A39S possibly damaging Het
Mob4 G A 1: 55,170,625 (GRCm39) probably benign Het
Mtmr4 G T 11: 87,502,727 (GRCm39) C927F probably damaging Het
Myh1 A G 11: 67,110,006 (GRCm39) K1398R probably benign Het
Myo3a T C 2: 22,436,464 (GRCm39) V873A probably benign Het
Naip5 G T 13: 100,356,205 (GRCm39) Q1137K not run Het
Naip5 T C 13: 100,356,204 (GRCm39) Q1137R probably benign Het
Nckap5l G A 15: 99,325,357 (GRCm39) P382L probably damaging Het
Ngly1 T C 14: 16,290,844 (GRCm38) I442T probably damaging Het
Nhsl3 C A 4: 129,115,835 (GRCm39) R988L possibly damaging Het
Nlrp1a T C 11: 70,983,237 (GRCm39) Y1243C probably damaging Het
Or8k53 T A 2: 86,177,150 (GRCm39) H320L possibly damaging Het
Pcsk5 C T 19: 17,487,600 (GRCm39) G1027D probably benign Het
Pla2g2c T A 4: 138,458,927 (GRCm39) I11N probably benign Het
Polr3d A G 14: 70,677,240 (GRCm39) I331T probably damaging Het
Prkce G T 17: 86,866,687 (GRCm39) V516F probably damaging Het
Prss27 T A 17: 24,264,683 (GRCm39) L282Q probably damaging Het
Pxdn A G 12: 30,034,926 (GRCm39) Y261C probably damaging Het
R3hcc1l T C 19: 42,551,101 (GRCm39) S33P probably benign Het
Rab11fip3 G C 17: 26,287,848 (GRCm39) R102G possibly damaging Het
Rabggta A T 14: 55,956,773 (GRCm39) N310K probably null Het
Rbbp8 T A 18: 11,793,934 (GRCm39) D15E probably benign Het
Rbm5 T C 9: 107,623,378 (GRCm39) Y486C probably damaging Het
Rptor T A 11: 119,775,805 (GRCm39) F992Y probably benign Het
Slc29a2 T G 19: 5,076,445 (GRCm39) L111R probably damaging Het
Slc39a11 T A 11: 113,452,849 (GRCm39) I31L probably benign Het
Slc6a20a T A 9: 123,485,289 (GRCm39) N311I possibly damaging Het
Slc8a1 A G 17: 81,956,435 (GRCm39) F201S probably damaging Het
Smtn C A 11: 3,480,196 (GRCm39) V342L probably benign Het
Syne2 A G 12: 76,074,853 (GRCm39) T4598A probably benign Het
Tchp A G 5: 114,853,716 (GRCm39) T267A probably benign Het
Tes3-ps A G 13: 49,647,508 (GRCm39) E128G possibly damaging Het
Tigar C T 6: 127,065,129 (GRCm39) G173E probably benign Het
Tmem171 T C 13: 98,824,862 (GRCm39) N256S probably benign Het
Tmem204 A G 17: 25,277,270 (GRCm39) I205T probably damaging Het
Tmem63a A G 1: 180,785,588 (GRCm39) K240R probably benign Het
Tns2 C T 15: 102,019,351 (GRCm39) T446M probably damaging Het
Tnxb A T 17: 34,937,444 (GRCm39) N2931I probably damaging Het
Trrap G T 5: 144,776,284 (GRCm39) R2941L probably damaging Het
Ttc8 A T 12: 98,910,131 (GRCm39) R179S probably damaging Het
Ttll12 G T 15: 83,471,176 (GRCm39) T234N probably damaging Het
Ttn G T 2: 76,577,576 (GRCm39) T24439K probably damaging Het
Ube2z A T 11: 95,946,736 (GRCm39) I246N possibly damaging Het
Usp15 A G 10: 123,011,786 (GRCm39) Y104H probably damaging Het
Usp29 A C 7: 6,964,219 (GRCm39) T21P possibly damaging Het
Usp5 G A 6: 124,798,077 (GRCm39) A436V probably damaging Het
Utp20 A G 10: 88,608,354 (GRCm39) L1561S probably damaging Het
Xrn1 A G 9: 95,927,547 (GRCm39) M1444V probably benign Het
Zfp236 G T 18: 82,651,815 (GRCm39) Q885K probably damaging Het
Zfp831 C A 2: 174,487,896 (GRCm39) P857Q 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
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
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'- GTCACAGTTTCTGGTGATCTCAC -3'
(R):5'- TAAGTTCTCCTAAGGCTGCGC -3'

Sequencing Primer
(F):5'- GATCTCACCCCTTGCCTCCAG -3'
(R):5'- TAAGGCTGCGCACACTTGAG -3'
Posted On 2019-10-07