Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01662:Ppp4r4'

103206

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: 0.134) question?

Stock #

IGL01662

Quality Score

Status

Chromosome

Chromosomal Location

103498542-103580090 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 103569225 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 717 (E717K)

Ref Sequence

ENSEMBL: ENSMUSP00000139786 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021631] [ENSMUST00000187155] [ENSMUST00000189871] [ENSMUST00000190151]

AlphaFold

Q8C0Y0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021631
AA Change: E717K

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000021631
Gene: ENSMUSG00000021209
AA Change: E717K

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

possibly damaging
Transcript: ENSMUST00000187155
AA Change: E608K

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000140874
Gene: ENSMUSG00000021209
AA Change: E608K

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

possibly damaging
Transcript: ENSMUST00000189871
AA Change: E717K

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000139786
Gene: ENSMUSG00000021209
AA Change: E717K

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

silent
Transcript: ENSMUST00000190151

SMART Domains

Protein: ENSMUSP00000139815
Gene: ENSMUSG00000021209

Domain	Start	End	E-Value	Type
low complexity region	99	114	N/A	INTRINSIC

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm5	A	T	7: 119,137,511 (GRCm39)	I402F	probably damaging	Het
Acvr2b	T	C	9: 119,261,570 (GRCm39)	Y388H	probably damaging	Het
Adh1	G	A	3: 137,988,512 (GRCm39)	D162N	possibly damaging	Het
C6	G	T	15: 4,822,236 (GRCm39)	R585I	probably damaging	Het
Ccdc169	T	A	3: 55,070,732 (GRCm39)		probably null	Het
Cdh13	T	A	8: 119,401,916 (GRCm39)	M106K	probably damaging	Het
Cep78	C	T	19: 15,938,359 (GRCm39)	E530K	probably damaging	Het
Cyfip1	T	A	7: 55,546,487 (GRCm39)	L533Q	probably damaging	Het
Etl4	T	C	2: 20,811,460 (GRCm39)	V1181A	probably benign	Het
Galnt7	T	G	8: 57,984,769 (GRCm39)		probably benign	Het
Gm11595	G	A	11: 99,663,498 (GRCm39)	R61C	unknown	Het
Gucy1a1	T	A	3: 82,016,560 (GRCm39)	I143F	possibly damaging	Het
Hmcn1	T	C	1: 150,613,050 (GRCm39)	N1410D	possibly damaging	Het
Ltbp2	G	A	12: 84,856,020 (GRCm39)	T741I	probably benign	Het
Mdc1	T	C	17: 36,163,397 (GRCm39)	S982P	probably benign	Het
Mfsd4b2	A	G	10: 39,798,193 (GRCm39)		probably benign	Het
Mrgprb5	T	G	7: 47,818,172 (GRCm39)	I188L	probably benign	Het
Naip6	T	A	13: 100,436,862 (GRCm39)	S554C	probably damaging	Het
Nav2	A	G	7: 49,220,957 (GRCm39)	N1715D	probably damaging	Het
Nav3	A	T	10: 109,605,119 (GRCm39)	S985T	possibly damaging	Het
Nme7	A	G	1: 164,155,866 (GRCm39)	Q22R	probably benign	Het
Or52i2	T	C	7: 102,319,927 (GRCm39)	W267R	probably damaging	Het
Otulinl	C	T	15: 27,658,151 (GRCm39)	D290N	probably damaging	Het
Pabir1	A	G	19: 24,453,948 (GRCm39)	V258A	probably benign	Het
Ppp1r9a	A	G	6: 5,115,322 (GRCm39)	E815G	probably damaging	Het
Ppp2r2c	T	A	5: 37,083,744 (GRCm39)	I95N	probably damaging	Het
Prdm2	A	G	4: 142,860,138 (GRCm39)	S1051P	possibly damaging	Het
Rnf214	T	C	9: 45,811,084 (GRCm39)	D193G	probably damaging	Het
Sirpb1b	G	T	3: 15,608,244 (GRCm39)	T167K	probably damaging	Het
Slc16a3	C	A	11: 120,847,532 (GRCm39)	S240*	probably null	Het
Snx14	T	A	9: 88,267,891 (GRCm39)		probably benign	Het
Sorbs2	A	G	8: 46,256,866 (GRCm39)		probably benign	Het
Stk-ps2	A	T	1: 46,068,522 (GRCm39)		noncoding transcript	Het
Taar7b	A	T	10: 23,875,874 (GRCm39)	D13V	probably benign	Het
Trp53bp1	T	C	2: 121,066,506 (GRCm39)	E740G	probably damaging	Het
Unc79	C	T	12: 103,115,279 (GRCm39)	A2054V	possibly damaging	Het
Zfp106	A	G	2: 120,354,034 (GRCm39)	V211A	probably benign	Het
Zfp112	A	G	7: 23,825,379 (GRCm39)	H449R	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
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
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

2014-01-21