Mutagenetix > Incidental Mutation

Incidental Mutation 'R0217:Ppm1h'

33625

Institutional Source

Beutler Lab

Gene Symbol

Ppm1h

Ensembl Gene

ENSMUSG00000034613

Gene Name

protein phosphatase 1H (PP2C domain containing)

Synonyms

C030002B11Rik, ARHCL1, A430075L18Rik

MMRRC Submission

038466-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R0217 (G1)

Quality Score

215

Status

Validated (trace)

Chromosome

Chromosomal Location

122514667-122781700 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 122756640 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 428 (D428E)

Ref Sequence

ENSEMBL: ENSMUSP00000124982 (fasta)

Gene Model

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

AlphaFold

Q3UYC0

Predicted Effect

probably damaging
Transcript: ENSMUST00000067918
AA Change: D428E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000066561
Gene: ENSMUSG00000034613
AA Change: D428E

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

noncoding transcript
Transcript: ENSMUST00000161065

Predicted Effect

probably damaging
Transcript: ENSMUST00000161487
AA Change: D428E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124982
Gene: ENSMUSG00000034613
AA Change: D428E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000162969
AA Change: D47E

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124006
Gene: ENSMUSG00000034613
AA Change: D47E

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

Meta Mutation Damage Score

0.5626

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acte1	T	C	7: 143,447,956 (GRCm39)		probably benign	Het
Actr3	A	G	1: 125,335,150 (GRCm39)		probably benign	Het
Adamts13	A	G	2: 26,886,933 (GRCm39)		probably benign	Het
Afap1l1	A	G	18: 61,879,940 (GRCm39)	V310A	probably damaging	Het
Alms1	T	A	6: 85,599,912 (GRCm39)	S2048R	probably damaging	Het
Aspm	T	A	1: 139,385,618 (GRCm39)	S421T	possibly damaging	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Ccdc150	T	G	1: 54,339,589 (GRCm39)	S478A	possibly damaging	Het
Ccnyl1	T	A	1: 64,752,257 (GRCm39)		probably benign	Het
Cdc23	T	C	18: 34,784,718 (GRCm39)	T15A	unknown	Het
Cdk19	C	T	10: 40,352,254 (GRCm39)		probably benign	Het
Comp	A	C	8: 70,831,558 (GRCm39)	D420A	probably damaging	Het
Ctnnal1	T	C	4: 56,813,230 (GRCm39)	H667R	probably benign	Het
Cyp20a1	C	A	1: 60,382,625 (GRCm39)		probably benign	Het
Eci3	A	C	13: 35,132,072 (GRCm39)	S259A	probably benign	Het
Fcnb	T	C	2: 27,969,689 (GRCm39)	D126G	probably benign	Het
Foxk1	T	C	5: 142,387,649 (GRCm39)	M124T	possibly damaging	Het
Gm12790	T	C	4: 101,825,231 (GRCm39)	Y61C	probably damaging	Het
Hmgcr	A	C	13: 96,788,488 (GRCm39)	I777S	probably damaging	Het
Hsdl2	A	G	4: 59,597,311 (GRCm39)	E100G	probably damaging	Het
Itgb2	G	T	10: 77,384,370 (GRCm39)		probably benign	Het
Jak2	T	A	19: 29,274,050 (GRCm39)		probably null	Het
Lrba	T	C	3: 86,550,029 (GRCm39)	S2333P	probably damaging	Het
Man1a2	A	G	3: 100,524,353 (GRCm39)	L365P	possibly damaging	Het
Map2k5	A	T	9: 63,164,257 (GRCm39)		probably null	Het
Mcc	C	G	18: 44,652,583 (GRCm39)		probably benign	Het
Megf8	T	A	7: 25,063,504 (GRCm39)	L2620Q	probably damaging	Het
Nf1	A	T	11: 79,319,400 (GRCm39)		probably benign	Het
Or11h7	A	G	14: 50,891,552 (GRCm39)	N286S	probably damaging	Het
Or1e30	T	A	11: 73,678,214 (GRCm39)	V150E	possibly damaging	Het
Or5p1	C	A	7: 107,916,505 (GRCm39)	H135N	probably benign	Het
Pank3	T	A	11: 35,668,555 (GRCm39)	D181E	probably benign	Het
Pip5k1a	A	G	3: 94,981,302 (GRCm39)		probably null	Het
Plag1	A	C	4: 3,904,379 (GRCm39)	S271A	probably benign	Het
Plxna2	T	A	1: 194,326,906 (GRCm39)	I280N	probably damaging	Het
Polr1a	T	C	6: 71,940,687 (GRCm39)	V1007A	probably benign	Het
Prelid2	A	T	18: 42,068,317 (GRCm39)		probably benign	Het
Ptk2b	T	C	14: 66,393,830 (GRCm39)	Y881C	probably damaging	Het
Rptor	T	C	11: 119,785,738 (GRCm39)		probably benign	Het
Sbno1	T	C	5: 124,542,387 (GRCm39)		probably null	Het
Scaf4	T	C	16: 90,039,570 (GRCm39)	D843G	probably damaging	Het
Serpina3b	C	T	12: 104,096,986 (GRCm39)	A89V	probably damaging	Het
Serpinb9d	C	A	13: 33,382,005 (GRCm39)	T158N	possibly damaging	Het
Slc39a10	C	T	1: 46,874,700 (GRCm39)	V201I	probably benign	Het
Slc6a13	T	A	6: 121,301,279 (GRCm39)	N189K	probably damaging	Het
Smco1	G	T	16: 32,092,599 (GRCm39)	R90L	possibly damaging	Het
Stim1	T	A	7: 102,085,007 (GRCm39)	M653K	probably benign	Het
Stxbp1	T	C	2: 32,691,882 (GRCm39)	S437G	possibly damaging	Het
Stxbp3-ps	T	G	19: 9,536,496 (GRCm39)		noncoding transcript	Het
Tgtp1	A	C	11: 48,878,146 (GRCm39)	S186R	probably benign	Het
Trpc7	C	T	13: 56,937,581 (GRCm39)	W570*	probably null	Het
Trpv4	C	A	5: 114,772,722 (GRCm39)	R289L	possibly damaging	Het
Vmn2r82	A	G	10: 79,214,634 (GRCm39)	M206V	possibly damaging	Het
Wdr47	T	A	3: 108,544,336 (GRCm39)	V653E	probably damaging	Het
Zfp113	T	C	5: 138,148,953 (GRCm39)	R64G	probably benign	Het
Zfp661	C	T	2: 127,419,211 (GRCm39)	E310K	probably damaging	Het
Zfp735	T	A	11: 73,602,112 (GRCm39)	I352N	possibly damaging	Het
Zswim4	A	G	8: 84,939,293 (GRCm39)	L863P	probably damaging	Het
Zzef1	T	A	11: 72,779,894 (GRCm39)	I1889N	probably damaging	Het

Other mutations in Ppm1h

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01025:Ppm1h	APN	10	122,714,534 (GRCm39)	critical splice donor site	probably null
IGL01060:Ppm1h	APN	10	122,743,476 (GRCm39)	missense	possibly damaging	0.49
IGL01557:Ppm1h	APN	10	122,618,086 (GRCm39)	critical splice acceptor site	probably null
IGL01608:Ppm1h	APN	10	122,777,185 (GRCm39)	nonsense	probably null
IGL02112:Ppm1h	APN	10	122,638,305 (GRCm39)	missense	possibly damaging	0.86
R0129:Ppm1h	UTSW	10	122,777,260 (GRCm39)	missense	probably damaging	0.97
R0309:Ppm1h	UTSW	10	122,756,687 (GRCm39)	missense	probably damaging	1.00
R0455:Ppm1h	UTSW	10	122,638,229 (GRCm39)	missense	probably benign	0.00
R1144:Ppm1h	UTSW	10	122,777,183 (GRCm39)	missense	probably benign	0.01
R1430:Ppm1h	UTSW	10	122,693,004 (GRCm39)	missense	probably damaging	1.00
R2014:Ppm1h	UTSW	10	122,756,630 (GRCm39)	missense	possibly damaging	0.79
R2021:Ppm1h	UTSW	10	122,714,433 (GRCm39)	nonsense	probably null
R2882:Ppm1h	UTSW	10	122,777,239 (GRCm39)	missense	probably damaging	0.99
R3767:Ppm1h	UTSW	10	122,740,027 (GRCm39)	missense	probably damaging	1.00
R3768:Ppm1h	UTSW	10	122,740,027 (GRCm39)	missense	probably damaging	1.00
R3770:Ppm1h	UTSW	10	122,740,027 (GRCm39)	missense	probably damaging	1.00
R4816:Ppm1h	UTSW	10	122,515,284 (GRCm39)	missense	possibly damaging	0.89
R4996:Ppm1h	UTSW	10	122,777,245 (GRCm39)	missense	probably damaging	1.00
R5640:Ppm1h	UTSW	10	122,618,183 (GRCm39)	missense	probably benign	0.30
R6199:Ppm1h	UTSW	10	122,756,644 (GRCm39)	missense	probably damaging	1.00
R7759:Ppm1h	UTSW	10	122,740,018 (GRCm39)	missense	probably benign
R7991:Ppm1h	UTSW	10	122,618,152 (GRCm39)	missense	probably benign	0.00
R8160:Ppm1h	UTSW	10	122,638,341 (GRCm39)	missense	probably benign	0.01
R8300:Ppm1h	UTSW	10	122,618,118 (GRCm39)	missense	probably damaging	1.00
R8906:Ppm1h	UTSW	10	122,714,451 (GRCm39)	missense	probably damaging	1.00
R9104:Ppm1h	UTSW	10	122,638,264 (GRCm39)	missense	probably benign	0.01
R9459:Ppm1h	UTSW	10	122,743,482 (GRCm39)	missense	possibly damaging	0.62
R9755:Ppm1h	UTSW	10	122,638,165 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCTGTAAGCAAGCCTTGGGAAGAG -3'
(R):5'- GTTTGCCGAGCTATTCCTACAGCC -3'

Sequencing Primer
(F):5'- GCTGGCTGTGAAATCACATAC -3'
(R):5'- ACAGCCTCTGTTGTAAGTCATGAG -3'

Posted On

2013-05-09