Mutagenetix > Incidental Mutation

Incidental Mutation 'R1829:Ppp1r42'

207059

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r42

Ensembl Gene

ENSMUSG00000025916

Gene Name

protein phosphatase 1, regulatory subunit 42

Synonyms

1700011J18Rik, 4930418G15Rik, Lrrc67

MMRRC Submission

039856-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1829 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

9968624-10009136 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 10000086 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 61 (R61C)

Ref Sequence

ENSEMBL: ENSMUSP00000115030 (fasta)

Gene Model

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

AlphaFold

Q8R1Z4

Predicted Effect

probably benign
Transcript: ENSMUST00000027049
AA Change: R61C

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000027049
Gene: ENSMUSG00000025916
AA Change: R61C

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
AA Change: R61C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000115309
Gene: ENSMUSG00000025916
AA Change: R61C

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
AA Change: R61C

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000115030
Gene: ENSMUSG00000025916
AA Change: R61C

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

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.7%

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: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
7420426K07Rik	T	A	9: 98,903,393 (GRCm38)	I37N	possibly damaging	Het
Aars	A	T	8: 111,042,706 (GRCm38)	D287V	probably damaging	Het
Abca12	A	G	1: 71,295,029 (GRCm38)	C1105R	probably benign	Het
Abca8b	T	A	11: 109,942,341 (GRCm38)	N1178Y	probably damaging	Het
Abhd12	A	G	2: 150,843,398 (GRCm38)	L189P	probably damaging	Het
Acap2	G	T	16: 31,110,934 (GRCm38)	N435K	probably damaging	Het
Adam6b	G	T	12: 113,489,925 (GRCm38)	G121C	probably damaging	Het
Adgrb1	C	A	15: 74,580,586 (GRCm38)	C200*	probably null	Het
Agbl5	T	C	5: 30,903,064 (GRCm38)	S730P	possibly damaging	Het
Ahsg	G	A	16: 22,892,328 (GRCm38)		probably benign	Het
Aldh9a1	A	T	1: 167,361,854 (GRCm38)	K390N	probably benign	Het
Alpk2	T	A	18: 65,294,094 (GRCm38)	H1857L	possibly damaging	Het
Apip	T	A	2: 103,088,662 (GRCm38)	N102K	probably benign	Het
Asxl2	T	C	12: 3,457,125 (GRCm38)	S106P	probably damaging	Het
Atp2b2	G	T	6: 113,773,368 (GRCm38)	R677S	probably damaging	Het
Barhl1	A	C	2: 28,909,845 (GRCm38)	M256R	probably damaging	Het
BC025446	T	G	15: 75,216,756 (GRCm38)		probably null	Het
BC052040	G	T	2: 115,642,692 (GRCm38)	R101L	possibly damaging	Het
Cacnb2	A	T	2: 14,985,964 (GRCm38)	Q619L	possibly damaging	Het
Ccdc137	C	T	11: 120,458,212 (GRCm38)	P23L	probably benign	Het
Cdh11	A	T	8: 102,634,641 (GRCm38)	N688K	possibly damaging	Het
Cdh18	C	T	15: 23,173,852 (GRCm38)	P51S	probably damaging	Het
Cfhr1	A	T	1: 139,553,600 (GRCm38)	Y181N	probably damaging	Het
Chmp3	A	G	6: 71,560,939 (GRCm38)	D50G	probably benign	Het
Crem	T	C	18: 3,295,037 (GRCm38)		probably null	Het
Cyb561a3	G	A	19: 10,582,393 (GRCm38)	W27*	probably null	Het
Cyp2d12	C	A	15: 82,558,056 (GRCm38)	N297K	possibly damaging	Het
Dclk2	C	T	3: 86,805,639 (GRCm38)	R503Q	possibly damaging	Het
Dnah12	T	A	14: 26,800,075 (GRCm38)	N1948K	probably damaging	Het
Dnah12	T	C	14: 26,773,023 (GRCm38)	L1346P	probably damaging	Het
Dsp	T	G	13: 38,193,195 (GRCm38)	L1652R	probably damaging	Het
Dstyk	G	A	1: 132,449,595 (GRCm38)	S66N	probably benign	Het
Ehhadh	T	C	16: 21,762,178 (GRCm38)	E688G	probably damaging	Het
Emsy	T	A	7: 98,602,729 (GRCm38)	H688L	possibly damaging	Het
Emsy	G	T	7: 98,602,730 (GRCm38)	H688N	possibly damaging	Het
Endod1	A	G	9: 14,356,926 (GRCm38)	L421P	probably damaging	Het
Fam222b	C	T	11: 78,155,035 (GRCm38)	P346L	probably damaging	Het
Fam3c	G	A	6: 22,309,437 (GRCm38)	R182W	probably damaging	Het
Gck	T	C	11: 5,910,984 (GRCm38)	D29G	probably damaging	Het
Gm10320	C	A	13: 98,489,699 (GRCm38)	R59L	probably damaging	Het
Gm11127	G	T	17: 36,058,004 (GRCm38)	F61L	probably damaging	Het
Gm21798	C	T	15: 64,817,826 (GRCm38)		probably benign	Het
Gm9376	A	G	14: 118,267,545 (GRCm38)	T130A	possibly damaging	Het
Gpr153	T	A	4: 152,282,392 (GRCm38)	I334N	possibly damaging	Het
Greb1l	T	C	18: 10,509,314 (GRCm38)	L542P	probably damaging	Het
Hacl1	T	C	14: 31,640,534 (GRCm38)	E52G	probably benign	Het
Ice2	A	G	9: 69,407,353 (GRCm38)	Y128C	probably damaging	Het
Ikzf2	T	A	1: 69,542,287 (GRCm38)	I121L	probably benign	Het
Ipcef1	C	T	10: 6,919,900 (GRCm38)	A167T	probably benign	Het
Jakmip2	T	A	18: 43,582,080 (GRCm38)	D127V	possibly damaging	Het
Jph4	T	C	14: 55,114,911 (GRCm38)	T122A	probably damaging	Het
Kcns2	A	G	15: 34,838,803 (GRCm38)	E104G	probably damaging	Het
Lars2	A	C	9: 123,431,917 (GRCm38)	R384S	probably benign	Het
Lsmem1	G	T	12: 40,185,409 (GRCm38)	H3N	possibly damaging	Het
Lsmem1	T	A	12: 40,185,408 (GRCm38)	H3L	possibly damaging	Het
Mfhas1	C	G	8: 35,590,248 (GRCm38)	R626G	probably benign	Het
Mfhas1	A	C	8: 35,590,068 (GRCm38)	S566R	probably benign	Het
Mgam	A	G	6: 40,666,892 (GRCm38)	T585A	probably damaging	Het
Mmp25	T	C	17: 23,640,023 (GRCm38)	K185E	probably benign	Het
Mtch1	T	C	17: 29,338,776 (GRCm38)	I243V	probably damaging	Het
Mtcp1	A	T	X: 75,411,665 (GRCm38)	Y25*	probably null	Het
Mybl2	A	G	2: 163,059,583 (GRCm38)	T35A	probably benign	Het
Myh11	T	C	16: 14,223,880 (GRCm38)	E736G	probably damaging	Het
Myh2	T	C	11: 67,176,559 (GRCm38)	I224T	probably damaging	Het
Mymx	T	C	17: 45,601,833 (GRCm38)		probably benign	Het
Nek10	A	G	14: 14,863,454 (GRCm38)		probably null	Het
Nsd1	A	T	13: 55,246,369 (GRCm38)	K697N	probably damaging	Het
Nynrin	A	G	14: 55,872,947 (GRCm38)	D1837G	possibly damaging	Het
Olfr115	G	A	17: 37,610,277 (GRCm38)	T158I	probably benign	Het
Olfr424	T	A	1: 174,137,194 (GRCm38)	I150N	probably benign	Het
Olfr510	T	A	7: 108,667,644 (GRCm38)	I76N	probably benign	Het
Olfr593	A	T	7: 103,211,886 (GRCm38)	T9S	probably benign	Het
Olfr701	A	G	7: 106,819,007 (GRCm38)	H308R	probably benign	Het
Phf19	T	C	2: 34,911,769 (GRCm38)	T10A	probably benign	Het
Pkd1	A	T	17: 24,565,584 (GRCm38)	H368L	probably benign	Het
Plscr2	A	G	9: 92,290,755 (GRCm38)	R156G	probably damaging	Het
Pptc7	T	G	5: 122,313,616 (GRCm38)	V45G	probably damaging	Het
Prlhr	G	A	19: 60,467,429 (GRCm38)	T233I	probably damaging	Het
Reps1	C	T	10: 18,107,714 (GRCm38)	T435I	probably damaging	Het
Ret	T	A	6: 118,153,951 (GRCm38)	T1084S	probably damaging	Het
Rgl2	T	A	17: 33,933,621 (GRCm38)	M402K	probably benign	Het
Rp2	A	G	X: 20,376,915 (GRCm38)	K43R	probably benign	Het
Rundc3b	A	T	5: 8,579,117 (GRCm38)	W95R	probably damaging	Het
Samd9l	T	C	6: 3,375,107 (GRCm38)	D718G	possibly damaging	Het
Scnn1b	G	A	7: 121,902,845 (GRCm38)	R242H	probably benign	Het
Smad4	G	T	18: 73,641,894 (GRCm38)	Q445K	probably benign	Het
Smchd1	G	T	17: 71,370,337 (GRCm38)	P1486T	probably damaging	Het
Snx25	G	T	8: 46,035,632 (GRCm38)	N895K	possibly damaging	Het
Sox2	A	G	3: 34,650,741 (GRCm38)	D109G	probably damaging	Het
Stfa2	A	T	16: 36,405,202 (GRCm38)	N38K	probably damaging	Het
Stfa2	C	A	16: 36,405,211 (GRCm38)	E35D	possibly damaging	Het
Stfa3	A	G	16: 36,450,661 (GRCm38)	L87P	probably damaging	Het
Strbp	T	C	2: 37,640,909 (GRCm38)	D111G	possibly damaging	Het
Supt20	C	A	3: 54,727,658 (GRCm38)		probably benign	Het
Svep1	A	G	4: 58,096,310 (GRCm38)	Y1437H	possibly damaging	Het
Tbx4	T	A	11: 85,911,920 (GRCm38)		probably null	Het
Tmem117	A	T	15: 95,094,551 (GRCm38)	N364I	probably damaging	Het
Tmem8	T	C	17: 26,122,220 (GRCm38)	Y766H	probably damaging	Het
Trat1	T	C	16: 48,761,379 (GRCm38)	E45G	probably damaging	Het
Trpc2	G	A	7: 102,084,119 (GRCm38)	D92N	probably damaging	Het
Trpm1	G	A	7: 64,226,782 (GRCm38)	D528N	probably damaging	Het
Ttll9	A	G	2: 153,000,236 (GRCm38)	S337G	possibly damaging	Het
Utrn	A	T	10: 12,475,274 (GRCm38)	I355N	probably damaging	Het
Vangl1	A	G	3: 102,163,466 (GRCm38)	S385P	probably benign	Het
Vmn1r209	A	G	13: 22,806,239 (GRCm38)	S94P	possibly damaging	Het
Vmn2r28	T	A	7: 5,493,811 (GRCm38)	Q14L	probably benign	Het
Vps45	A	G	3: 96,047,245 (GRCm38)		probably null	Het
Wdr48	T	C	9: 119,904,330 (GRCm38)	V81A	probably benign	Het
Xpnpep2	A	G	X: 48,125,353 (GRCm38)	N476S	probably benign	Het
Zbtb41	A	T	1: 139,446,922 (GRCm38)	K707*	probably null	Het
Zfp442	A	C	2: 150,409,063 (GRCm38)	C306W	probably damaging	Het
Zfp811	T	C	17: 32,798,142 (GRCm38)	N307S	possibly damaging	Het
Zfp976	A	G	7: 42,616,311 (GRCm38)	W17R	probably damaging	Het
Zyg11b	T	C	4: 108,266,093 (GRCm38)	T226A	possibly damaging	Het

Other mutations in Ppp1r42

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01469:Ppp1r42	APN	1	10,003,233 (GRCm38)	critical splice donor site	probably null
IGL02739:Ppp1r42	APN	1	9,968,853 (GRCm38)	missense	probably benign	0.34
G1patch:Ppp1r42	UTSW	1	9,999,507 (GRCm38)	missense	probably damaging	1.00
R0920:Ppp1r42	UTSW	1	9,999,525 (GRCm38)	missense	probably damaging	1.00
R2151:Ppp1r42	UTSW	1	10,003,347 (GRCm38)	missense	probably benign	0.10
R2909:Ppp1r42	UTSW	1	10,003,412 (GRCm38)	intron	probably benign
R4828:Ppp1r42	UTSW	1	9,999,411 (GRCm38)	missense	probably benign
R4863:Ppp1r42	UTSW	1	10,003,386 (GRCm38)	intron	probably benign
R5384:Ppp1r42	UTSW	1	9,999,435 (GRCm38)	missense	probably damaging	1.00
R5394:Ppp1r42	UTSW	1	9,999,405 (GRCm38)	missense	probably damaging	1.00
R6725:Ppp1r42	UTSW	1	9,999,507 (GRCm38)	missense	probably damaging	1.00
R7343:Ppp1r42	UTSW	1	9,968,857 (GRCm38)	missense	probably benign
R7556:Ppp1r42	UTSW	1	9,995,183 (GRCm38)	missense	probably benign	0.01
R8722:Ppp1r42	UTSW	1	9,985,669 (GRCm38)	missense	probably benign	0.15
R9477:Ppp1r42	UTSW	1	9,985,629 (GRCm38)	missense	probably damaging	1.00
R9612:Ppp1r42	UTSW	1	9,968,842 (GRCm38)	missense	possibly damaging	0.79
R9668:Ppp1r42	UTSW	1	10,003,338 (GRCm38)	missense	probably benign	0.42
R9752:Ppp1r42	UTSW	1	10,003,449 (GRCm38)	intron	probably benign
Z1177:Ppp1r42	UTSW	1	9,999,427 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCATGCAAACACTGGAAATGC -3'
(R):5'- TTGAGTGTTCTAAGGGCAAGAAATG -3'

Sequencing Primer
(F):5'- TCGCCTGCATAGAGTATGGAC -3'
(R):5'- GGCAAGAAATGTTACTTTGTAAGAGC -3'

Posted On

2014-06-23