Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01469:Ppp1r42'

88227

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppp1r42

Ensembl Gene

ENSMUSG00000025916

Gene Name

protein phosphatase 1, regulatory subunit 42

Synonyms

1700011J18Rik, 4930418G15Rik, Lrrc67

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01469

Quality Score

Status

Chromosome

Chromosomal Location

9968624-10009136 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 10003233 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000027049 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027049] [ENSMUST00000124874] [ENSMUST00000130102] [ENSMUST00000176398]

Predicted Effect

probably null
Transcript: ENSMUST00000027049

SMART Domains

Protein: ENSMUSP00000027049
Gene: ENSMUSG00000025916

Domain	Start	End	E-Value	Type
Pfam:LRR_8	50	106	2.5e-8	PFAM
Pfam:LRR_4	72	114	2.3e-11	PFAM
low complexity region	146	164	N/A	INTRINSIC
low complexity region	184	201	N/A	INTRINSIC
low complexity region	243	259	N/A	INTRINSIC
low complexity region	323	332	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124874

SMART Domains

Protein: ENSMUSP00000115309
Gene: ENSMUSG00000025916

Domain	Start	End	E-Value	Type
Pfam:LRR_8	50	106	2e-8	PFAM
Pfam:LRR_6	71	94	5.9e-3	PFAM
Pfam:LRR_4	72	117	3.8e-11	PFAM
Pfam:LRR_8	72	128	1.3e-8	PFAM
Pfam:LRR_1	73	93	3.4e-3	PFAM
Pfam:LRR_6	145	172	2.2e-3	PFAM
low complexity region	184	201	N/A	INTRINSIC
low complexity region	243	259	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000130102

SMART Domains

Protein: ENSMUSP00000115030
Gene: ENSMUSG00000025916

Domain	Start	End	E-Value	Type
Pfam:LRR_6	49	68	4.4e-2	PFAM
Pfam:LRR_8	50	106	2.3e-8	PFAM
Pfam:LRR_6	71	95	6.8e-3	PFAM
Pfam:LRR_4	72	116	6.9e-11	PFAM
Pfam:LRR_8	72	128	1.5e-8	PFAM
Pfam:LRR_1	73	93	5.1e-3	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155163

Predicted Effect

probably benign
Transcript: ENSMUST00000176398

SMART Domains

Protein: ENSMUSP00000135276
Gene: ENSMUSG00000025916

Domain	Start	End	E-Value	Type
low complexity region	4	21	N/A	INTRINSIC
low complexity region	63	79	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 can interact with gamma-tubulin and PP1 phosphatase, a regulator of centrosome separation. The encoded protein is a positive regulator of PP1 phosphatase and thus plays a role in the control of centrosome integrity. [provided by RefSeq, Feb 2017]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430007A20Rik	A	G	4: 144,528,622	Q204R	possibly damaging	Het
Actn2	C	T	13: 12,310,910	E60K	possibly damaging	Het
Alpk1	T	C	3: 127,677,752		probably null	Het
Ccdc107	A	G	4: 43,495,751	N218S	probably benign	Het
Cdh23	A	T	10: 60,597,725	M60K	probably benign	Het
Cenpe	A	G	3: 135,228,806	Q378R	probably damaging	Het
Dnah8	T	A	17: 30,683,714		probably benign	Het
Eif2b4	T	C	5: 31,187,767	D190G	probably benign	Het
Fmo5	A	G	3: 97,651,568	N448S	probably benign	Het
Gal3st2c	A	G	1: 94,009,317	N328S	probably benign	Het
Gbf1	A	T	19: 46,279,364	E1271V	probably damaging	Het
Ifitm6	A	T	7: 141,016,812	V16D	probably damaging	Het
Ighv2-4	A	G	12: 113,653,346		probably null	Het
Kng2	T	A	16: 22,999,827	K305I	probably damaging	Het
Lrp1	C	T	10: 127,584,414	R900Q	probably damaging	Het
Maml1	A	G	11: 50,266,526	M274T	probably damaging	Het
Med23	A	G	10: 24,882,597	E278G	probably damaging	Het
Myo1h	A	G	5: 114,361,269	T164A	probably damaging	Het
Ncoa2	A	T	1: 13,186,869	S135R	probably benign	Het
Nrbf2	A	G	10: 67,270,140	L41P	probably damaging	Het
Olfr108	T	A	17: 37,445,535	S5T	probably benign	Het
Olfr341	T	C	2: 36,479,824	Y102C	probably benign	Het
Olfr514	A	G	7: 108,825,327	V224A	probably benign	Het
Olfr678	T	A	7: 105,070,388	M307K	probably benign	Het
Olfr782	A	G	10: 129,350,580	M6V	probably benign	Het
Otoa	T	C	7: 121,155,273		probably null	Het
Pih1d3	A	T	1: 31,223,429	D164V	probably damaging	Het
Plxnb1	T	C	9: 109,105,415		probably benign	Het
Rad54l2	T	A	9: 106,722,758	K100M	probably damaging	Het
Rnf112	T	A	11: 61,451,341	T308S	possibly damaging	Het
Scaper	T	C	9: 55,859,767	D466G	probably damaging	Het
Sgsm2	T	A	11: 74,853,871	I796L	possibly damaging	Het
Shank3	T	C	15: 89,521,274	L476P	probably damaging	Het
Shkbp1	T	C	7: 27,355,941	T6A	probably benign	Het
Slc14a2	A	T	18: 78,155,566	I783N	probably damaging	Het
Stat1	A	G	1: 52,147,370	D447G	possibly damaging	Het
Tekt3	T	G	11: 63,073,468	I208S	probably damaging	Het
Tenm3	A	T	8: 48,236,423	V2043E	probably damaging	Het
Tgm3	T	C	2: 130,024,494	Y111H	probably damaging	Het
Tph2	T	A	10: 115,079,759	R459*	probably null	Het
Vmn2r109	T	C	17: 20,541,409	Y562C	probably damaging	Het

Other mutations in Ppp1r42

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02739:Ppp1r42	APN	1	9968853	missense	probably benign	0.34
R0920:Ppp1r42	UTSW	1	9999525	missense	probably damaging	1.00
R1829:Ppp1r42	UTSW	1	10000086	missense	probably benign	0.00
R2151:Ppp1r42	UTSW	1	10003347	missense	probably benign	0.10
R2909:Ppp1r42	UTSW	1	10003412	intron	probably benign
R4828:Ppp1r42	UTSW	1	9999411	missense	probably benign
R4863:Ppp1r42	UTSW	1	10003386	intron	probably benign
R5384:Ppp1r42	UTSW	1	9999435	missense	probably damaging	1.00
R5394:Ppp1r42	UTSW	1	9999405	missense	probably damaging	1.00
R6725:Ppp1r42	UTSW	1	9999507	missense	probably damaging	1.00
R7343:Ppp1r42	UTSW	1	9968857	missense	probably benign
R7556:Ppp1r42	UTSW	1	9995183	missense	probably benign	0.01
Z1177:Ppp1r42	UTSW	1	9999427	missense	probably damaging	1.00

Posted On

2013-11-18