Mutagenetix > Incidental Mutation

Incidental Mutation 'R7759:Ppm1h'

597739

Institutional Source

Beutler Lab

Gene Symbol

Ppm1h

Ensembl Gene

ENSMUSG00000034613

Gene Name

protein phosphatase 1H (PP2C domain containing)

Synonyms

ARHCL1, A430075L18Rik, C030002B11Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R7759 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

122678762-122945795 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 122904113 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 364 (D364E)

Ref Sequence

ENSEMBL: ENSMUSP00000066561 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067918] [ENSMUST00000161487] [ENSMUST00000162969]

AlphaFold

Q3UYC0

Predicted Effect

probably benign
Transcript: ENSMUST00000067918
AA Change: D364E

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

SMART Domains

Protein: ENSMUSP00000066561
Gene: ENSMUSG00000034613
AA Change: D364E

Domain	Start	End	E-Value	Type
low complexity region	19	33	N/A	INTRINSIC
PP2Cc	67	504	1.22e-35	SMART
PP2C_SIG	136	506	1.59e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161487
AA Change: D364E

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

SMART Domains

Protein: ENSMUSP00000124982
Gene: ENSMUSG00000034613
AA Change: D364E

Domain	Start	End	E-Value	Type
low complexity region	19	33	N/A	INTRINSIC
PP2Cc	67	455	6.36e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162969

SMART Domains

Protein: ENSMUSP00000124006
Gene: ENSMUSG00000034613

Domain	Start	End	E-Value	Type
Pfam:PP2C	2	99	2.9e-14	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	G	T	16: 4,864,650	G215V	probably benign	Het
Adamts1	C	A	16: 85,797,795	G652C	probably damaging	Het
Adck1	G	A	12: 88,402,117	A122T	possibly damaging	Het
Akap1	A	C	11: 88,845,833	M34R	probably damaging	Het
Apc2	C	T	10: 80,311,196	R695C	probably damaging	Het
Apon	T	A	10: 128,254,515	W21R	probably benign	Het
Arhgef16	T	C	4: 154,286,975	T254A	probably benign	Het
Arid5b	T	A	10: 68,097,802	S757C	probably damaging	Het
B020004C17Rik	A	C	14: 57,016,785	I122L	possibly damaging	Het
Bckdhb	T	G	9: 84,010,326	V270G	probably damaging	Het
Cacna1d	A	G	14: 30,099,188	Y1146H	probably benign	Het
Carmil2	A	G	8: 105,697,036	D1214G	possibly damaging	Het
Ccdc142	T	C	6: 83,107,931	V636A	probably benign	Het
Chd9	T	C	8: 90,977,550		probably null	Het
Csmd3	A	G	15: 47,698,173	S1336P		Het
Cubn	A	G	2: 13,348,150	Y1926H	probably damaging	Het
Ddx58	C	A	4: 40,225,104	A298S	probably damaging	Het
Dock4	A	T	12: 40,817,736	D1437V	probably damaging	Het
Eme1	A	T	11: 94,645,840	Y504*	probably null	Het
Enah	G	A	1: 181,918,444	A687V	unknown	Het
Endou	A	C	15: 97,713,866	V339G	probably damaging	Het
Ephb6	G	A	6: 41,614,605	R232H	probably benign	Het
Ephx2	G	A	14: 66,089,519	A409V	possibly damaging	Het
Esd	T	A	14: 74,745,567	C219*	probably null	Het
Fscb	A	T	12: 64,474,092	M200K	probably benign	Het
Gabra6	A	T	11: 42,317,681	V108D	probably damaging	Het
Gm11555	A	G	11: 99,649,742	V137A	unknown	Het
Gpld1	A	G	13: 24,962,400	D209G	probably damaging	Het
Ikzf1	T	A	11: 11,769,256	I408N	probably damaging	Het
Itgb4	A	G	11: 116,003,710	R1364G	possibly damaging	Het
Kif26b	A	C	1: 178,678,944	K195T	probably damaging	Het
Mfsd12	T	C	10: 81,363,593	W440R	probably benign	Het
Mtrr	C	T	13: 68,570,027	E373K	probably damaging	Het
Mug2	T	A	6: 122,081,358	V1293E	probably damaging	Het
Myof	C	A	19: 37,939,898	A1068S	probably benign	Het
Ncam2	A	G	16: 81,615,784	D720G	probably damaging	Het
Nova2	G	T	7: 18,958,251	G435V		Het
Oacyl	T	A	18: 65,710,560	D109E	probably damaging	Het
Olfr1393	A	T	11: 49,280,636	M163L	probably benign	Het
Olfr684	G	A	7: 105,157,025	S219F	probably damaging	Het
Pdcd11	G	A	19: 47,113,198	V941M	possibly damaging	Het
Pdzd8	C	A	19: 59,299,926	R1014L	probably damaging	Het
Rp1	T	C	1: 4,344,884	N2002D	probably benign	Het
Sall1	C	T	8: 89,042,351		probably null	Het
Scn10a	C	T	9: 119,648,132	W728*	probably null	Het
Setdb2	G	T	14: 59,419,364	T168K	probably damaging	Het
Sgms1	T	C	19: 32,159,876	I97V	probably benign	Het
Slc8a3	A	T	12: 81,314,551	M498K	probably benign	Het
Smpd4	A	T	16: 17,638,633	E362D	probably damaging	Het
Ssc5d	A	T	7: 4,937,530	K881*	probably null	Het
Strn4	A	G	7: 16,830,384	E313G	probably damaging	Het
Tas2r113	A	T	6: 132,893,927	N306I	possibly damaging	Het
Tdrd6	G	T	17: 43,624,839	R1773S	probably benign	Het
Thbs2	T	C	17: 14,677,059	E729G	probably damaging	Het
Tnfrsf23	G	A	7: 143,670,835	T135I	probably damaging	Het
Tollip	A	G	7: 141,884,539	M218T	probably benign	Het
Tyk2	A	T	9: 21,120,258		probably null	Het
Ubr2	G	A	17: 46,986,048	R269C	probably damaging	Het
Uggt1	A	T	1: 36,146,725	M1459K	possibly damaging	Het
Upf1	A	G	8: 70,334,080	V929A	probably benign	Het
Usp48	T	C	4: 137,594,452	S24P	probably benign	Het
Vmn1r214	G	A	13: 23,034,461	E42K	not run	Het
Vmn1r83	G	T	7: 12,321,433	D232E	probably benign	Het
Vmn2r25	C	T	6: 123,823,380	V668I	probably damaging	Het
Vmn2r6	A	G	3: 64,556,570	I281T	probably damaging	Het
Ywhag	A	T	5: 135,911,189	Y184N	probably damaging	Het
Zdbf2	A	C	1: 63,308,376	E1971D	possibly damaging	Het
Zfp568	G	A	7: 30,023,414	A595T	possibly damaging	Het
Zfy2	T	C	Y: 2,117,083	D248G	probably benign	Het

Other mutations in Ppm1h

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01025:Ppm1h	APN	10	122878629	critical splice donor site	probably null
IGL01060:Ppm1h	APN	10	122907571	missense	possibly damaging	0.49
IGL01557:Ppm1h	APN	10	122782181	critical splice acceptor site	probably null
IGL01608:Ppm1h	APN	10	122941280	nonsense	probably null
IGL02112:Ppm1h	APN	10	122802400	missense	possibly damaging	0.86
R0129:Ppm1h	UTSW	10	122941355	missense	probably damaging	0.97
R0217:Ppm1h	UTSW	10	122920735	missense	probably damaging	1.00
R0309:Ppm1h	UTSW	10	122920782	missense	probably damaging	1.00
R0455:Ppm1h	UTSW	10	122802324	missense	probably benign	0.00
R1144:Ppm1h	UTSW	10	122941278	missense	probably benign	0.01
R1430:Ppm1h	UTSW	10	122857099	missense	probably damaging	1.00
R2014:Ppm1h	UTSW	10	122920725	missense	possibly damaging	0.79
R2021:Ppm1h	UTSW	10	122878528	nonsense	probably null
R2882:Ppm1h	UTSW	10	122941334	missense	probably damaging	0.99
R3767:Ppm1h	UTSW	10	122904122	missense	probably damaging	1.00
R3768:Ppm1h	UTSW	10	122904122	missense	probably damaging	1.00
R3770:Ppm1h	UTSW	10	122904122	missense	probably damaging	1.00
R4816:Ppm1h	UTSW	10	122679379	missense	possibly damaging	0.89
R4996:Ppm1h	UTSW	10	122941340	missense	probably damaging	1.00
R5640:Ppm1h	UTSW	10	122782278	missense	probably benign	0.30
R6199:Ppm1h	UTSW	10	122920739	missense	probably damaging	1.00
R7991:Ppm1h	UTSW	10	122782247	missense	probably benign	0.00
R8160:Ppm1h	UTSW	10	122802436	missense	probably benign	0.01
R8300:Ppm1h	UTSW	10	122782213	missense	probably damaging	1.00
R8906:Ppm1h	UTSW	10	122878546	missense	probably damaging	1.00
R9104:Ppm1h	UTSW	10	122802359	missense	probably benign	0.01
R9459:Ppm1h	UTSW	10	122907577	missense	possibly damaging	0.62
R9755:Ppm1h	UTSW	10	122802260	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGACTTGACATTTCCTGGCTTG -3'
(R):5'- GTTGTCAAGGCCATAAAACCC -3'

Sequencing Primer
(F):5'- ACACACAATTTTGCATGGAGC -3'
(R):5'- CCAAACTGCCCCAATCTGTG -3'

Posted On

2019-11-26