Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02112:Ppm1h'

280215

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppm1h

Ensembl Gene

ENSMUSG00000034613

Gene Name

protein phosphatase 1H (PP2C domain containing)

Synonyms

C030002B11Rik, ARHCL1, A430075L18Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02112

Quality Score

Status

Chromosome

Chromosomal Location

122514667-122781700 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 122638305 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 192 (G192R)

Ref Sequence

ENSEMBL: ENSMUSP00000124982 (fasta)

Gene Model

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

AlphaFold

Q3UYC0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067918
AA Change: G192R

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000066561
Gene: ENSMUSG00000034613
AA Change: G192R

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: ENSMUST00000160315

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161487
AA Change: G192R

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124982
Gene: ENSMUSG00000034613
AA Change: G192R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162853

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	T	A	8: 44,104,175 (GRCm39)	Y490F	possibly damaging	Het
Appbp2	A	T	11: 85,092,446 (GRCm39)	H271Q	probably benign	Het
Arhgap17	A	T	7: 122,917,640 (GRCm39)	D181E	possibly damaging	Het
Arhgap25	T	A	6: 87,444,919 (GRCm39)	Y286F	possibly damaging	Het
Atf2	T	C	2: 73,649,381 (GRCm39)	K352R	probably damaging	Het
Bdp1	G	A	13: 100,174,308 (GRCm39)	T2076I	probably benign	Het
C1s2	A	G	6: 124,602,267 (GRCm39)	V642A	probably benign	Het
Cldn18	T	A	9: 99,580,128 (GRCm39)	T170S	probably benign	Het
Cntnap5c	T	A	17: 58,620,853 (GRCm39)	H977Q	probably benign	Het
Col15a1	T	A	4: 47,253,985 (GRCm39)		probably benign	Het
Csmd1	A	T	8: 16,131,719 (GRCm39)	Y1669N	probably benign	Het
Csmd3	A	C	15: 48,177,265 (GRCm39)	S424R	possibly damaging	Het
Cyp4a31	A	G	4: 115,428,180 (GRCm39)	D306G	probably damaging	Het
E2f2	A	G	4: 135,920,145 (GRCm39)	T377A	probably benign	Het
Edil3	A	G	13: 89,328,374 (GRCm39)	D276G	probably damaging	Het
Ei24	A	T	9: 36,693,638 (GRCm39)	Y305N	probably damaging	Het
Erbin	T	C	13: 103,998,844 (GRCm39)	N181D	probably benign	Het
Gli3	A	G	13: 15,837,099 (GRCm39)	Q494R	probably damaging	Het
Gm16519	T	C	17: 71,236,291 (GRCm39)	I80T	probably damaging	Het
Haus8	T	A	8: 71,708,205 (GRCm39)	E163V	probably damaging	Het
Hephl1	G	T	9: 14,993,111 (GRCm39)		probably benign	Het
Hnrnph3	A	G	10: 62,852,184 (GRCm39)		probably null	Het
Liat1	G	T	11: 75,894,214 (GRCm39)	C197F	probably benign	Het
Mast2	A	T	4: 116,176,961 (GRCm39)	C437S	probably damaging	Het
Mef2a	A	C	7: 66,914,620 (GRCm39)	S91R	probably damaging	Het
Mfge8	A	T	7: 78,793,088 (GRCm39)	V126D	probably benign	Het
Nrdc	A	G	4: 108,884,629 (GRCm39)		probably benign	Het
Or7d10	T	A	9: 19,831,821 (GRCm39)	N105K	possibly damaging	Het
Panx2	A	G	15: 88,953,772 (GRCm39)	T576A	probably benign	Het
Per3	T	C	4: 151,113,640 (GRCm39)	Y306C	probably benign	Het
Prss22	T	C	17: 24,212,945 (GRCm39)	E264G	probably damaging	Het
Rasa3	A	G	8: 13,635,042 (GRCm39)		probably benign	Het
Rpl7a-ps8	C	A	7: 19,687,985 (GRCm39)		probably benign	Het
Rundc1	A	G	11: 101,324,425 (GRCm39)	D377G	probably benign	Het
Sh3bp1	T	C	15: 78,790,084 (GRCm39)		probably null	Het
Sobp	A	G	10: 42,897,873 (GRCm39)	S571P	probably benign	Het
Styxl2	C	A	1: 165,927,240 (GRCm39)	E791*	probably null	Het
Syce1	C	A	7: 140,359,545 (GRCm39)	M114I	probably benign	Het
Tdrd6	G	A	17: 43,940,242 (GRCm39)	R269W	probably damaging	Het
Tmprss13	T	C	9: 45,250,702 (GRCm39)	S408P	probably damaging	Het
Tonsl	T	C	15: 76,517,602 (GRCm39)	T706A	probably benign	Het
Tpcn2	A	G	7: 144,810,529 (GRCm39)	S603P	probably benign	Het
Trmt12	A	T	15: 58,744,665 (GRCm39)	Q21L	probably damaging	Het
Vmn1r68	C	T	7: 10,261,787 (GRCm39)	G104S	probably damaging	Het
Vmn2r82	T	C	10: 79,231,833 (GRCm39)	W611R	probably benign	Het
Vmn2r90	C	A	17: 17,932,465 (GRCm39)	T124K	probably damaging	Het
Vmn2r99	A	G	17: 19,600,494 (GRCm39)	E506G	probably null	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
R0129:Ppm1h	UTSW	10	122,777,260 (GRCm39)	missense	probably damaging	0.97
R0217:Ppm1h	UTSW	10	122,756,640 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2015-04-16