Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01338:Ppm1n'

74720

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppm1n

Ensembl Gene

ENSMUSG00000030402

Gene Name

protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative)

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.194) question?

Stock #

IGL01338

Quality Score

Status

Chromosome

Chromosomal Location

19010730-19013989 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 19013179 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 257 (D257E)

Ref Sequence

ENSEMBL: ENSMUSP00000032560 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032559] [ENSMUST00000032560]

AlphaFold

Q8BGL1

Predicted Effect

probably benign
Transcript: ENSMUST00000032559

SMART Domains

Protein: ENSMUSP00000032559
Gene: ENSMUSG00000030401

Domain	Start	End	E-Value	Type
low complexity region	14	25	N/A	INTRINSIC
low complexity region	42	53	N/A	INTRINSIC
low complexity region	70	85	N/A	INTRINSIC
low complexity region	119	144	N/A	INTRINSIC
Pfam:Reticulon	272	436	2.9e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000032560
AA Change: D257E

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000032560
Gene: ENSMUSG00000030402
AA Change: D257E

Domain	Start	End	E-Value	Type
low complexity region	18	28	N/A	INTRINSIC
PP2Cc	49	317	2.02e-82	SMART
PP2C_SIG	72	319	1.08e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205498

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205792

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206782

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209186

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam23	A	G	1: 63,591,014 (GRCm39)	T494A	possibly damaging	Het
Adamts16	C	T	13: 70,984,234 (GRCm39)	C143Y	probably damaging	Het
Cacna1i	A	G	15: 80,232,581 (GRCm39)	I195V	probably damaging	Het
Casp7	T	C	19: 56,392,896 (GRCm39)	S17P	probably benign	Het
Cfap298	T	C	16: 90,722,936 (GRCm39)	N266S	possibly damaging	Het
Cox6a1	C	A	5: 115,483,898 (GRCm39)		probably benign	Het
Cpvl	T	A	6: 53,951,640 (GRCm39)	S48C	possibly damaging	Het
Cyp2b19	G	T	7: 26,458,842 (GRCm39)	M138I	probably benign	Het
Dennd5a	T	C	7: 109,518,611 (GRCm39)	Y510C	possibly damaging	Het
Derl2	A	G	11: 70,901,181 (GRCm39)	F229S	possibly damaging	Het
Dlec1	A	G	9: 118,949,979 (GRCm39)	E452G	probably damaging	Het
Dsc2	T	C	18: 20,180,214 (GRCm39)	K180E	probably benign	Het
Dus1l	G	A	11: 120,683,918 (GRCm39)	R177C	possibly damaging	Het
Egfr	A	G	11: 16,813,020 (GRCm39)	I167V	probably damaging	Het
Fam219b	A	T	9: 57,445,305 (GRCm39)		probably null	Het
Fn1	T	C	1: 71,665,369 (GRCm39)	E916G	probably damaging	Het
Gm2058	C	T	7: 39,238,580 (GRCm39)		noncoding transcript	Het
Gpd1	T	A	15: 99,616,056 (GRCm39)	V22E	probably damaging	Het
Hsf2	T	C	10: 57,377,475 (GRCm39)	F124L	probably damaging	Het
I0C0044D17Rik	A	G	4: 98,708,336 (GRCm39)		probably benign	Het
Igfbp3	A	T	11: 7,158,478 (GRCm39)	F262I	possibly damaging	Het
Klhl18	A	G	9: 110,284,501 (GRCm39)	Y62H	probably damaging	Het
Lama2	C	T	10: 27,064,268 (GRCm39)	E1238K	probably benign	Het
Man1b1	A	G	2: 25,228,239 (GRCm39)	K170E	probably benign	Het
Mcrs1	A	T	15: 99,147,382 (GRCm39)	I39N	probably damaging	Het
Mug2	T	C	6: 122,026,587 (GRCm39)		probably benign	Het
Neu3	C	A	7: 99,462,629 (GRCm39)	G365W	probably damaging	Het
Nipal3	A	C	4: 135,199,194 (GRCm39)		probably null	Het
Nrxn3	A	G	12: 89,221,804 (GRCm39)	I528V	possibly damaging	Het
Or10al6	A	T	17: 38,082,730 (GRCm39)	H71L	possibly damaging	Het
Osbpl8	A	G	10: 111,103,608 (GRCm39)	K204R	probably damaging	Het
Pax8	A	G	2: 24,325,931 (GRCm39)	S318P	possibly damaging	Het
Pcdh18	T	A	3: 49,710,590 (GRCm39)	N242Y	probably damaging	Het
Pkd1l2	T	A	8: 117,786,259 (GRCm39)	K649*	probably null	Het
Pxdn	A	G	12: 30,052,796 (GRCm39)	E811G	probably damaging	Het
Relb	T	C	7: 19,350,298 (GRCm39)	I218V	probably benign	Het
Rreb1	T	C	13: 38,115,010 (GRCm39)	C790R	probably damaging	Het
Rtkn2	G	T	10: 67,861,349 (GRCm39)	C258F	possibly damaging	Het
Scn11a	G	A	9: 119,613,227 (GRCm39)		probably benign	Het
Snx8	G	A	5: 140,343,851 (GRCm39)	R96C	probably damaging	Het
Syne2	A	T	12: 76,107,000 (GRCm39)	T5649S	possibly damaging	Het
Tm2d3	T	A	7: 65,344,970 (GRCm39)	C82*	probably null	Het
Tnpo2	T	C	8: 85,767,155 (GRCm39)	L55P	probably damaging	Het
Tsc22d2	T	C	3: 58,324,836 (GRCm39)		probably benign	Het
Ttll3	T	G	6: 113,371,690 (GRCm39)	V19G	probably damaging	Het
Ube2r2	A	G	4: 41,174,119 (GRCm39)	I86V	probably benign	Het
Vps13d	G	A	4: 144,814,892 (GRCm39)	T3153I	probably damaging	Het
Wwp1	A	G	4: 19,627,636 (GRCm39)	I753T	probably damaging	Het

Other mutations in Ppm1n

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00543:Ppm1n	APN	7	19,012,109 (GRCm39)	missense	probably benign	0.00
IGL01649:Ppm1n	APN	7	19,012,122 (GRCm39)	splice site	probably benign
IGL02388:Ppm1n	APN	7	19,013,097 (GRCm39)	missense	probably damaging	1.00
R0320:Ppm1n	UTSW	7	19,012,281 (GRCm39)	missense	probably damaging	0.98
R2153:Ppm1n	UTSW	7	19,012,110 (GRCm39)	missense	probably damaging	0.98
R5099:Ppm1n	UTSW	7	19,011,903 (GRCm39)	missense	possibly damaging	0.95
R7060:Ppm1n	UTSW	7	19,013,187 (GRCm39)	missense	probably damaging	1.00
R7167:Ppm1n	UTSW	7	19,013,666 (GRCm39)	missense	probably damaging	1.00
R8316:Ppm1n	UTSW	7	19,012,302 (GRCm39)	missense	probably damaging	1.00
Z1176:Ppm1n	UTSW	7	19,013,170 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-10-07