Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03137:Ppp4r4'

410560

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 #

IGL03137

Quality Score

Status

Chromosome

Chromosomal Location

103498542-103580090 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 103547643 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Threonine at position 212 (K212T)

Ref Sequence

ENSEMBL: ENSMUSP00000139786 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021631] [ENSMUST00000187155] [ENSMUST00000189871] [ENSMUST00000190664]

AlphaFold

Q8C0Y0

Predicted Effect

probably damaging
Transcript: ENSMUST00000021631
AA Change: K212T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021631
Gene: ENSMUSG00000021209
AA Change: K212T

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 damaging
Transcript: ENSMUST00000187155
AA Change: K103T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140874
Gene: ENSMUSG00000021209
AA Change: K103T

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 damaging
Transcript: ENSMUST00000189871
AA Change: K212T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139786
Gene: ENSMUSG00000021209
AA Change: K212T

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

SMART Domains

Protein: ENSMUSP00000140295
Gene: ENSMUSG00000021209

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankub1	T	C	3: 57,597,778 (GRCm39)	D64G	probably damaging	Het
Apobec2	C	T	17: 48,730,303 (GRCm39)	W121*	probably null	Het
Arid2	A	G	15: 96,269,199 (GRCm39)	N1104S	probably benign	Het
Bltp1	T	A	3: 37,088,751 (GRCm39)	M569K	probably damaging	Het
Brap	T	C	5: 121,803,156 (GRCm39)		probably benign	Het
Cilp	A	C	9: 65,185,450 (GRCm39)	N515T	probably benign	Het
Cpeb2	T	A	5: 43,419,067 (GRCm39)		probably benign	Het
Creb1	C	T	1: 64,615,374 (GRCm39)	T242I	possibly damaging	Het
Ddx60	T	C	8: 62,441,117 (GRCm39)	V1062A	possibly damaging	Het
Dock8	A	G	19: 25,133,312 (GRCm39)	E1153G	probably benign	Het
Gk5	A	G	9: 96,058,345 (GRCm39)		probably benign	Het
Gm5478	G	T	15: 101,552,817 (GRCm39)	N60K	probably benign	Het
Hmcn2	T	A	2: 31,252,242 (GRCm39)	V904D	probably damaging	Het
Hnmt	T	A	2: 23,938,751 (GRCm39)	H29L	probably damaging	Het
Hsf1	A	G	15: 76,380,649 (GRCm39)		probably benign	Het
Igkv1-122	C	A	6: 67,994,400 (GRCm39)	T96K	probably damaging	Het
Iyd	T	C	10: 3,501,987 (GRCm39)	I211T	probably damaging	Het
Kcnn1	G	T	8: 71,303,381 (GRCm39)	H34N	probably damaging	Het
Krtap5-3	G	T	7: 141,755,946 (GRCm39)		probably benign	Het
Map3k19	C	T	1: 127,752,052 (GRCm39)	R433K	probably benign	Het
Mss51	A	C	14: 20,537,200 (GRCm39)	C89W	probably damaging	Het
Myh9	A	T	15: 77,675,289 (GRCm39)	I276N	probably damaging	Het
Myof	T	C	19: 37,963,337 (GRCm39)	E420G	probably damaging	Het
Nfatc2ip	C	A	7: 125,989,740 (GRCm39)	V215L	possibly damaging	Het
Or10ag52	A	T	2: 87,043,500 (GRCm39)	Y88F	probably benign	Het
Or51m1	T	C	7: 103,578,801 (GRCm39)	M257T	probably benign	Het
Or5d18	G	A	2: 87,864,754 (GRCm39)	A243V	probably benign	Het
Pcdhb4	T	C	18: 37,441,569 (GRCm39)	I293T	probably damaging	Het
Pdcd6ip	A	G	9: 113,486,213 (GRCm39)	S729P	possibly damaging	Het
Pick1	C	A	15: 79,129,501 (GRCm39)	H169N	possibly damaging	Het
Racgap1	A	G	15: 99,526,622 (GRCm39)	S314P	probably damaging	Het
Rasef	C	A	4: 73,652,720 (GRCm39)	E594*	probably null	Het
Ryr3	T	G	2: 112,740,742 (GRCm39)	K522Q	probably benign	Het
Shoc1	G	T	4: 59,094,162 (GRCm39)	F187L	probably benign	Het
Six5	T	C	7: 18,831,072 (GRCm39)		probably benign	Het
Slc26a9	G	T	1: 131,691,615 (GRCm39)	E619D	probably benign	Het
Sqor	A	G	2: 122,649,991 (GRCm39)	I412V	probably benign	Het
Srrt	T	A	5: 137,294,379 (GRCm39)		probably benign	Het
Sult1e1	C	T	5: 87,726,475 (GRCm39)	R213K	probably benign	Het
Tmc2	T	A	2: 130,082,050 (GRCm39)	L411H	probably damaging	Het
Tmem63b	T	A	17: 45,975,921 (GRCm39)	N511Y	probably damaging	Het
Ucp3	T	A	7: 100,131,969 (GRCm39)		probably benign	Het
Vmn1r201	A	T	13: 22,658,974 (GRCm39)	I63F	probably benign	Het
Vps13c	G	T	9: 67,797,662 (GRCm39)	L522F	probably damaging	Het
Wwp1	T	A	4: 19,678,408 (GRCm39)	T3S	probably damaging	Het
Zc3hav1	A	G	6: 38,309,329 (GRCm39)	S498P	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
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
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

2016-08-02