Mutagenetix > Incidental Mutation

Incidental Mutation 'R5516:Ppm1m'

431296

Institutional Source

Beutler Lab

Gene Symbol

Ppm1m

Ensembl Gene

ENSMUSG00000020253

Gene Name

protein phosphatase 1M

Synonyms

PP2C eta, 2810423O19Rik

MMRRC Submission

043075-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5516 (G1)

Quality Score

219

Status

Validated

Chromosome

Chromosomal Location

106072152-106076432 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106075138 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 136 (I136F)

Ref Sequence

ENSEMBL: ENSMUSP00000117908 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076258] [ENSMUST00000140761]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000076258
AA Change: I80F

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000075607
Gene: ENSMUSG00000020253
AA Change: I80F

Domain	Start	End	E-Value	Type
PP2Cc	14	394	7.38e-44	SMART
PP2C_SIG	50	396	1.51e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000136431

SMART Domains

Protein: ENSMUSP00000118165
Gene: ENSMUSG00000020253

Domain	Start	End	E-Value	Type
PP2Cc	2	200	1.93e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000140761
AA Change: I136F

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

SMART Domains

Protein: ENSMUSP00000117908
Gene: ENSMUSG00000020253
AA Change: I136F

Domain	Start	End	E-Value	Type
PP2Cc	60	450	8.04e-45	SMART
PP2C_SIG	106	452	1.51e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150731

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152359

Predicted Effect

probably benign
Transcript: ENSMUST00000213197

Predicted Effect

probably benign
Transcript: ENSMUST00000215742

Meta Mutation Damage Score

0.1445

Coding Region Coverage

1x: 98.5%
3x: 97.4%
10x: 95.2%
20x: 90.4%

Validation Efficiency

97% (58/60)

Allele List at MGI

All alleles(8) : Targeted(2) Gene trapped(6)

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	C	10: 10,306,901 (GRCm39)	K334R	probably damaging	Het
Aldh1l1	A	T	6: 90,573,927 (GRCm39)	I809F	possibly damaging	Het
Bmp2k	T	A	5: 97,235,312 (GRCm39)		probably benign	Het
C1qtnf9	T	A	14: 61,017,198 (GRCm39)	C243S	probably damaging	Het
Cacna1c	G	A	6: 119,034,179 (GRCm39)	A146V	probably damaging	Het
Ccdc85c	A	G	12: 108,174,109 (GRCm39)	V353A	probably damaging	Het
Cd300ld2	G	T	11: 114,903,270 (GRCm39)		probably benign	Het
Cd320	A	G	17: 34,067,021 (GRCm39)	Q170R	possibly damaging	Het
Cfap43	C	T	19: 47,726,648 (GRCm39)		probably null	Het
Chid1	A	G	7: 141,076,059 (GRCm39)	S365P	probably damaging	Het
Chrna7	T	G	7: 62,749,046 (GRCm39)	T479P	probably damaging	Het
Clasp1	G	T	1: 118,425,451 (GRCm39)	R35L	probably damaging	Het
Cluh	G	A	11: 74,551,270 (GRCm39)	R373H	probably damaging	Het
Cyp2b23	G	A	7: 26,372,482 (GRCm39)	R378*	probably null	Het
Cyp2d9	T	G	15: 82,338,528 (GRCm39)	N136K	probably null	Het
Efcab5	A	T	11: 77,079,615 (GRCm39)	S44T	possibly damaging	Het
Esrrg	A	T	1: 187,930,927 (GRCm39)	L316F	possibly damaging	Het
Fam222a	T	C	5: 114,749,889 (GRCm39)	Y362H	probably damaging	Het
Fat3	A	G	9: 15,910,005 (GRCm39)	V1999A	probably damaging	Het
Fes	A	T	7: 80,036,931 (GRCm39)	M51K	probably damaging	Het
Fmo3	T	A	1: 162,781,995 (GRCm39)	K453*	probably null	Het
Galnt1	A	G	18: 24,413,074 (GRCm39)	N458S	probably benign	Het
Gm8888	T	A	15: 96,664,855 (GRCm39)		noncoding transcript	Het
Gpn2	G	A	4: 133,312,190 (GRCm39)		probably null	Het
Grm4	G	A	17: 27,657,385 (GRCm39)	T464I	probably benign	Het
Insr	T	A	8: 3,205,764 (GRCm39)	K1342*	probably null	Het
Krt87	T	A	15: 101,385,002 (GRCm39)	K365*	probably null	Het
Lfng	T	C	5: 140,599,018 (GRCm39)	L309P	probably damaging	Het
Lnpk	T	C	2: 74,378,132 (GRCm39)		probably benign	Het
Lrrc8e	A	C	8: 4,285,818 (GRCm39)	D681A	probably damaging	Het
Lyst	G	A	13: 13,818,707 (GRCm39)	D1326N	probably benign	Het
Mmp27	A	G	9: 7,579,063 (GRCm39)	R413G	probably null	Het
Nags	C	T	11: 102,036,773 (GRCm39)	Q121*	probably null	Het
Nectin1	A	G	9: 43,715,090 (GRCm39)	E442G	probably benign	Het
Nek1	G	C	8: 61,542,523 (GRCm39)	A729P	probably benign	Het
Or51a24	A	G	7: 103,733,444 (GRCm39)	I281T	possibly damaging	Het
Pnp2	C	T	14: 51,201,195 (GRCm39)	A189V	probably benign	Het
Pramel21	A	G	4: 143,342,253 (GRCm39)	Q120R	possibly damaging	Het
Psg17	G	T	7: 18,548,458 (GRCm39)	Q438K	probably benign	Het
Ptprk	C	T	10: 28,372,926 (GRCm39)	R726*	probably null	Het
Rab3gap2	A	T	1: 184,967,684 (GRCm39)	Y163F	probably benign	Het
Scrib	A	T	15: 75,934,712 (GRCm39)	L627Q	possibly damaging	Het
Tcp1	A	G	17: 13,143,221 (GRCm39)	K510R	probably damaging	Het
Tle4	A	T	19: 14,432,253 (GRCm39)	I481N	probably damaging	Het
Tmem43	G	T	6: 91,455,192 (GRCm39)	R56L	possibly damaging	Het
Trmt10a	T	C	3: 137,857,957 (GRCm39)	I168T	possibly damaging	Het
Trpv1	A	T	11: 73,136,809 (GRCm39)	Y96F	probably benign	Het
Tshz3	C	T	7: 36,469,775 (GRCm39)	T588I	probably benign	Het
Ugt2b38	A	G	5: 87,559,702 (GRCm39)	F397L	probably damaging	Het
Vmn2r11	A	G	5: 109,195,032 (GRCm39)	S765P	probably damaging	Het
Zfp668	A	G	7: 127,466,318 (GRCm39)	F289L	probably damaging	Het
Zfp735	A	G	11: 73,601,640 (GRCm39)	T195A	probably benign	Het
Zscan10	A	G	17: 23,828,333 (GRCm39)	T182A	possibly damaging	Het

Other mutations in Ppm1m

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02003:Ppm1m	APN	9	106,076,356 (GRCm39)	missense	probably damaging	0.96
IGL02090:Ppm1m	APN	9	106,074,001 (GRCm39)	critical splice donor site	probably null
IGL02644:Ppm1m	APN	9	106,074,082 (GRCm39)	missense	probably damaging	1.00
IGL02691:Ppm1m	APN	9	106,072,568 (GRCm39)	missense	probably damaging	1.00
IGL03094:Ppm1m	APN	9	106,073,610 (GRCm39)	missense	probably damaging	1.00
R0047:Ppm1m	UTSW	9	106,073,895 (GRCm39)	nonsense	probably null
R0047:Ppm1m	UTSW	9	106,073,895 (GRCm39)	nonsense	probably null
R0361:Ppm1m	UTSW	9	106,075,325 (GRCm39)	missense	probably damaging	1.00
R0452:Ppm1m	UTSW	9	106,074,501 (GRCm39)	missense	probably damaging	1.00
R3053:Ppm1m	UTSW	9	106,075,874 (GRCm39)	missense	probably benign
R4654:Ppm1m	UTSW	9	106,073,601 (GRCm39)	missense	probably damaging	1.00
R5121:Ppm1m	UTSW	9	106,073,004 (GRCm39)	missense	probably benign	0.03
R5450:Ppm1m	UTSW	9	106,074,041 (GRCm39)	missense	probably benign	0.02
R6278:Ppm1m	UTSW	9	106,074,427 (GRCm39)	missense	probably damaging	1.00
R6533:Ppm1m	UTSW	9	106,074,069 (GRCm39)	unclassified	probably benign
R6746:Ppm1m	UTSW	9	106,075,351 (GRCm39)	nonsense	probably null
R7466:Ppm1m	UTSW	9	106,073,356 (GRCm39)	missense	probably damaging	0.99
R7486:Ppm1m	UTSW	9	106,073,810 (GRCm39)	missense	probably damaging	1.00
R7892:Ppm1m	UTSW	9	106,075,895 (GRCm39)	missense	probably benign
R7936:Ppm1m	UTSW	9	106,075,144 (GRCm39)	missense	probably damaging	1.00
R8815:Ppm1m	UTSW	9	106,076,237 (GRCm39)	unclassified	probably benign
R9643:Ppm1m	UTSW	9	106,075,104 (GRCm39)	missense	probably damaging	1.00
X0022:Ppm1m	UTSW	9	106,075,321 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CACTCACACATTCCTGGAAGG -3'
(R):5'- ACATCAAGAGTGGCTGACG -3'

Sequencing Primer
(F):5'- ACACATTCCTGGAAGGCGTTC -3'
(R):5'- ATCAAGAGTGGCTGACGGTGTG -3'

Posted On

2016-10-05