Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01768:Ppp4r4'

153987

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01768

Quality Score

Status

Chromosome

Chromosomal Location

103498542-103580090 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103547664 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 3 (V3A)

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: V219A

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000021631
Gene: ENSMUSG00000021209
AA Change: V219A

Domain	Start	End	E-Value	Type
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: V110A

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000140874
Gene: ENSMUSG00000021209
AA Change: V110A

Domain	Start	End	E-Value	Type
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: V219A

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000139786
Gene: ENSMUSG00000021209
AA Change: V219A

Domain	Start	End	E-Value	Type
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

probably benign
Transcript: ENSMUST00000190664
AA Change: V3A

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000140295
Gene: ENSMUSG00000021209
AA Change: V3A

Domain	Start	End	E-Value	Type
Pfam:HEAT	38	68	5.8e-4	PFAM

Coding Region Coverage

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aifm3	T	C	16: 17,324,141 (GRCm39)	V567A	possibly damaging	Het
Arnt	T	C	3: 95,398,327 (GRCm39)		probably benign	Het
C8b	G	A	4: 104,644,151 (GRCm39)	E273K	probably benign	Het
Capn5	C	T	7: 97,774,480 (GRCm39)	R570H	probably damaging	Het
Cdh9	A	T	15: 16,778,311 (GRCm39)	D42V	possibly damaging	Het
Cdk17	T	C	10: 93,044,123 (GRCm39)	S21P	probably damaging	Het
Cdkl3	T	A	11: 51,916,744 (GRCm39)	F291I	probably damaging	Het
Cfap210	A	T	2: 69,612,471 (GRCm39)		probably benign	Het
Clmn	T	C	12: 104,747,978 (GRCm39)	E523G	probably damaging	Het
Cyp4f14	A	T	17: 33,126,976 (GRCm39)	I318N	probably damaging	Het
Daam1	T	A	12: 72,036,659 (GRCm39)	F1068L	probably benign	Het
Ext2	A	G	2: 93,621,455 (GRCm39)		probably benign	Het
F5	T	A	1: 164,003,914 (GRCm39)	F236L	probably benign	Het
Fat2	A	G	11: 55,153,394 (GRCm39)	V3606A	probably damaging	Het
Gpam	G	A	19: 55,075,952 (GRCm39)	T220M	probably benign	Het
Hyal1	C	A	9: 107,456,338 (GRCm39)	L342I	probably damaging	Het
Ilvbl	C	A	10: 78,419,127 (GRCm39)	P459T	possibly damaging	Het
Itga5	A	G	15: 103,259,997 (GRCm39)	Y632H	probably benign	Het
Jkampl	A	T	6: 73,445,899 (GRCm39)	L217M	possibly damaging	Het
Krt73	T	C	15: 101,707,291 (GRCm39)	D299G	probably benign	Het
Lcp1	T	C	14: 75,461,573 (GRCm39)	V522A	probably benign	Het
Lmo3	A	G	6: 138,393,495 (GRCm39)	C53R	probably damaging	Het
Nsun7	T	C	5: 66,436,043 (GRCm39)	V305A	probably benign	Het
Oprm1	T	C	10: 6,779,186 (GRCm39)	S196P	probably damaging	Het
Or2y1e	G	A	11: 49,218,958 (GRCm39)	C240Y	probably damaging	Het
Or4z4	A	T	19: 12,076,403 (GRCm39)	I200N	probably damaging	Het
Or7e168	G	A	9: 19,720,456 (GRCm39)	V281M	possibly damaging	Het
Ovgp1	T	C	3: 105,888,667 (GRCm39)		probably null	Het
Pcdhb20	T	C	18: 37,639,768 (GRCm39)	F765L	possibly damaging	Het
Ruvbl1	A	G	6: 88,474,253 (GRCm39)	I419V	probably benign	Het
Scara5	T	A	14: 65,927,224 (GRCm39)	C40*	probably null	Het
Siglec1	T	C	2: 130,916,314 (GRCm39)	Q1212R	probably benign	Het
Slc31a1	G	A	4: 62,306,273 (GRCm39)		probably null	Het
Sparc	G	T	11: 55,296,069 (GRCm39)	N87K	probably damaging	Het
Tcf12	T	C	9: 71,776,278 (GRCm39)		probably null	Het
Timm44	A	T	8: 4,316,860 (GRCm39)	F258I	probably benign	Het
Tm2d2	G	T	8: 25,508,095 (GRCm39)	V80L	possibly damaging	Het
Tpr	A	G	1: 150,320,199 (GRCm39)	D2249G	possibly damaging	Het
Trim50	G	T	5: 135,392,736 (GRCm39)	G217V	possibly damaging	Het
Ugcg	T	C	4: 59,217,216 (GRCm39)		probably null	Het
Vmn2r107	A	T	17: 20,565,868 (GRCm39)	H61L	probably benign	Het
Zfp84	A	G	7: 29,476,091 (GRCm39)	H261R	probably benign	Het
Zswim2	A	T	2: 83,748,301 (GRCm39)	M293K	probably benign	Het

Other mutations in Ppp4r4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Posted On

2014-02-04