Mutagenetix > Incidental Mutation

Incidental Mutation 'R3805:Ppp4r4'

274565

Institutional Source

Beutler Lab

Gene Symbol

Ppp4r4

Ensembl Gene

ENSMUSG00000021209

Gene Name

protein phosphatase 4, regulatory subunit 4

Synonyms

8430415E04Rik

MMRRC Submission

040762-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.134) question?

Stock #

R3805 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103498542-103580090 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103566625 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 24 (M24K)

Ref Sequence

ENSEMBL: ENSMUSP00000139815 (fasta)

Gene Model

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

AlphaFold

Q8C0Y0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021631
AA Change: M625K

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000021631
Gene: ENSMUSG00000021209
AA Change: M625K

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: M516K

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140874
Gene: ENSMUSG00000021209
AA Change: M516K

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: M625K

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000139786
Gene: ENSMUSG00000021209
AA Change: M625K

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 damaging
Transcript: ENSMUST00000190151
AA Change: M24K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000139815
Gene: ENSMUSG00000021209
AA Change: M24K

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

Meta Mutation Damage Score

0.5528

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.7%
20x: 96.1%

Validation Efficiency

100% (41/41)

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
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Aebp2	GCGGCC	GCGGCCGGCC	6: 140,589,675 (GRCm39)		probably null	Het
Ano5	T	C	7: 51,226,398 (GRCm39)	F584L	probably benign	Het
Ap1b1	T	A	11: 4,983,225 (GRCm39)		probably null	Het
Bicd1	T	A	6: 149,420,489 (GRCm39)	L780M	probably damaging	Het
Ccdc138	T	C	10: 58,397,819 (GRCm39)	I553T	possibly damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Crct1	C	A	3: 92,922,014 (GRCm39)		probably benign	Het
Ctu1	T	C	7: 43,326,097 (GRCm39)	L252P	probably damaging	Het
Dhrs2	A	T	14: 55,472,205 (GRCm39)	N32I	probably benign	Het
Dnah1	A	T	14: 31,016,720 (GRCm39)	M1599K	possibly damaging	Het
Eri2	A	T	7: 119,385,231 (GRCm39)	C423*	probably null	Het
Fam169a	G	A	13: 97,234,192 (GRCm39)	V155I	probably benign	Het
Get4	G	T	5: 139,238,286 (GRCm39)	V23F	probably damaging	Het
Hdac3	A	G	18: 38,078,745 (GRCm39)		probably null	Het
Herc3	C	A	6: 58,893,835 (GRCm39)	H970Q	probably damaging	Het
Htt	A	G	5: 35,034,548 (GRCm39)		probably null	Het
Ifit1	A	G	19: 34,625,556 (GRCm39)	I231V	probably damaging	Het
Lingo4	A	G	3: 94,309,407 (GRCm39)	D115G	probably damaging	Het
Lrrc7	T	C	3: 157,891,130 (GRCm39)	I346V	probably benign	Het
Map7d1	A	T	4: 126,131,084 (GRCm39)		probably null	Het
Morf4l1	A	G	9: 89,977,196 (GRCm39)	S203P	probably benign	Het
Naaladl1	A	G	19: 6,164,895 (GRCm39)	T628A	probably benign	Het
Nlrp9a	T	A	7: 26,264,277 (GRCm39)	C643*	probably null	Het
Or4ac1-ps1	A	T	2: 88,370,700 (GRCm39)		noncoding transcript	Het
Or4b1	T	G	2: 89,978,805 (GRCm39)		probably benign	Het
Oxtr	T	C	6: 112,454,147 (GRCm39)	K39R	probably benign	Het
Ppp6r2	T	C	15: 89,149,842 (GRCm39)	F256L	probably benign	Het
Robo4	A	T	9: 37,315,734 (GRCm39)	D329V	possibly damaging	Het
Rsph10b	G	A	5: 143,895,206 (GRCm39)		probably null	Het
Slc9b2	T	C	3: 135,030,349 (GRCm39)	L222P	probably damaging	Het
Speer4a1	C	T	5: 26,240,082 (GRCm39)	E223K	possibly damaging	Het
St18	T	A	1: 6,872,577 (GRCm39)	L104H	probably damaging	Het
Tmem184c	C	A	8: 78,323,504 (GRCm39)	D453Y	unknown	Het
Trpv1	A	T	11: 73,143,879 (GRCm39)	N237I	probably damaging	Het
Vmn2r77	T	A	7: 86,444,368 (GRCm39)	L7*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- CATGCTAGAGTGCAAATCCCG -3'
(R):5'- GAGACACATTGACTCAGCAGG -3'

Sequencing Primer
(F):5'- TGCAAATCCCGAGGAACTAG -3'
(R):5'- AGCAGGAGACACACTTACTTTCTTC -3'

Posted On

2015-04-02