Mutagenetix > Incidental Mutation

Incidental Mutation 'R6386:Ppp4r4'

515611

Institutional Source

Beutler Lab

Gene Symbol

Ppp4r4

Ensembl Gene

ENSMUSG00000021209

Gene Name

protein phosphatase 4, regulatory subunit 4

Synonyms

8430415E04Rik

MMRRC Submission

044535-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

R6386 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103498542-103580090 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103559364 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 406 (L406P)

Ref Sequence

ENSEMBL: ENSMUSP00000140874 (fasta)

Gene Model

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

AlphaFold

Q8C0Y0

Predicted Effect

probably damaging
Transcript: ENSMUST00000021631
AA Change: L515P

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

SMART Domains

Protein: ENSMUSP00000021631
Gene: ENSMUSG00000021209
AA Change: L515P

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: L406P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140874
Gene: ENSMUSG00000021209
AA Change: L406P

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: L515P

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

SMART Domains

Protein: ENSMUSP00000139786
Gene: ENSMUSG00000021209
AA Change: L515P

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

Meta Mutation Damage Score

0.8387

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.6%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak6	TGACGA	TGA	13: 100,792,311 (GRCm39)		probably benign	Het
Arap2	A	T	5: 62,761,865 (GRCm39)	N1620K	possibly damaging	Het
Atf6b	T	C	17: 34,870,825 (GRCm39)	S396P	probably damaging	Het
Cc2d1a	A	G	8: 84,865,166 (GRCm39)	M469T	probably damaging	Het
Ceacam3	A	G	7: 16,892,144 (GRCm39)	N296D	probably benign	Het
Cep57l1	A	T	10: 41,619,128 (GRCm39)	S80T	probably damaging	Het
Clip4	C	A	17: 72,141,189 (GRCm39)	Y514*	probably null	Het
Cop1	T	C	1: 159,116,601 (GRCm39)	I125T	probably damaging	Het
Cstf1	T	C	2: 172,219,816 (GRCm39)	V309A	probably damaging	Het
Cyp4a29	T	G	4: 115,104,272 (GRCm39)		probably null	Het
F830045P16Rik	G	A	2: 129,314,738 (GRCm39)	H180Y	probably damaging	Het
Foxp4	T	C	17: 48,189,387 (GRCm39)	K237E	unknown	Het
Fstl5	A	T	3: 76,229,373 (GRCm39)	H58L	probably benign	Het
Gje1	A	G	10: 14,592,365 (GRCm39)	F139S	probably damaging	Het
Gpatch1	T	C	7: 34,991,265 (GRCm39)	D593G	probably damaging	Het
Inpp5d	T	A	1: 87,627,397 (GRCm39)	L566Q	probably damaging	Het
Mtch2	A	G	2: 90,679,739 (GRCm39)	T38A	probably benign	Het
Mvb12b	A	T	2: 33,717,754 (GRCm39)	I129N	probably damaging	Het
Npffr2	T	C	5: 89,730,556 (GRCm39)	V162A	probably benign	Het
Or4d10b	A	T	19: 12,036,920 (GRCm39)	N65K	probably damaging	Het
Or5p61	A	T	7: 107,758,409 (GRCm39)	Y224N	probably damaging	Het
Pkhd1	G	A	1: 20,621,244 (GRCm39)	R805C	probably damaging	Het
Prl3d2	A	G	13: 27,311,286 (GRCm39)	D186G	probably damaging	Het
Rfc5	T	C	5: 117,523,463 (GRCm39)	T112A	probably benign	Het
Rnf148	A	G	6: 23,654,483 (GRCm39)	L171P	probably damaging	Het
Rps24	G	A	14: 24,542,116 (GRCm39)	G71S	possibly damaging	Het
Slco2a1	G	A	9: 102,954,187 (GRCm39)	V453I	probably benign	Het
Spidr	T	C	16: 15,786,424 (GRCm39)	K440E	probably benign	Het
Syndig1	C	A	2: 149,741,496 (GRCm39)	N27K	probably damaging	Het
Tmem62	C	T	2: 120,829,595 (GRCm39)	T316I	probably benign	Het
Tpgs2	A	T	18: 25,272,081 (GRCm39)	I258N	possibly damaging	Het
Vmn2r78	A	T	7: 86,571,545 (GRCm39)	R452*	probably null	Het
Wasf3	A	T	5: 146,390,227 (GRCm39)	I124F	possibly damaging	Het
Wbp11	T	C	6: 136,797,523 (GRCm39)	T299A	probably benign	Het
Wdr25	T	C	12: 108,990,991 (GRCm39)	S41P	probably damaging	Het
Zfp874b	T	C	13: 67,622,962 (GRCm39)	D116G	possibly damaging	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
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
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'- AAAGTCCTTCCCTGGTGTCTG -3'
(R):5'- CTGGGGAAATGTTACCCTTCC -3'

Sequencing Primer
(F):5'- TACTCCAGGCTGCAGTTGATG -3'
(R):5'- TGTTACCCTTCCAAGCTAATAGG -3'

Posted On

2018-05-04