Mutagenetix > Incidental Mutation

Incidental Mutation 'R6533:Ppm1m'

543483

Institutional Source

Beutler Lab

Gene Symbol

Ppm1m

Ensembl Gene

ENSMUSG00000020253

Gene Name

protein phosphatase 1M

Synonyms

PP2C eta, 2810423O19Rik

MMRRC Submission

044659-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6533 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106072152-106076432 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 106074069 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

silent
Transcript: ENSMUST00000076258

SMART Domains

Protein: ENSMUSP00000075607
Gene: ENSMUSG00000020253

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

Predicted Effect

silent
Transcript: ENSMUST00000136431

SMART Domains

Protein: ENSMUSP00000118165
Gene: ENSMUSG00000020253

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

Predicted Effect

silent
Transcript: ENSMUST00000140761

SMART Domains

Protein: ENSMUSP00000117908
Gene: ENSMUSG00000020253

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

Predicted Effect

probably benign
Transcript: ENSMUST00000213197

Predicted Effect

unknown
Transcript: ENSMUST00000215742
AA Change: D25G

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

100% (44/44)

Allele List at MGI

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

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010B08Rik	C	T	2: 173,561,628 (GRCm39)		probably benign	Het
4932414N04Rik	G	T	2: 68,546,662 (GRCm39)	E115*	probably null	Het
Abhd16a	G	A	17: 35,317,785 (GRCm39)		probably null	Het
Ankrd28	T	A	14: 31,454,041 (GRCm39)	I244L	possibly damaging	Het
Barx2	T	C	9: 31,824,275 (GRCm39)	Y38C	probably damaging	Het
Btn2a2	C	A	13: 23,665,951 (GRCm39)	E294*	probably null	Het
Ceacam2	C	G	7: 25,230,136 (GRCm39)	V157L	probably benign	Het
Ces2c	T	A	8: 105,578,725 (GRCm39)	F334L	possibly damaging	Het
Col7a1	T	C	9: 108,790,426 (GRCm39)	I958T	unknown	Het
Dcp2	T	A	18: 44,532,731 (GRCm39)	D82E	probably benign	Het
Dnah8	T	C	17: 30,965,964 (GRCm39)	L2432S	probably damaging	Het
Dst	A	G	1: 34,342,590 (GRCm39)	D7582G	probably benign	Het
Fat3	T	A	9: 15,910,195 (GRCm39)	I1936L	probably benign	Het
Gsdmc4	T	A	15: 63,763,909 (GRCm39)	N396I	probably damaging	Het
Lonrf2	A	C	1: 38,852,349 (GRCm39)	D167E	probably benign	Het
Marf1	T	C	16: 13,933,663 (GRCm39)	D1575G	probably benign	Het
Med23	T	C	10: 24,769,518 (GRCm39)	L101P	probably damaging	Het
Myh3	A	G	11: 66,981,245 (GRCm39)	I703V	probably damaging	Het
Ncan	G	A	8: 70,549,007 (GRCm39)	A1257V	probably benign	Het
Nipal4	A	T	11: 46,041,234 (GRCm39)	Y320*	probably null	Het
Obox5	A	T	7: 15,491,532 (GRCm39)	Q24L	probably benign	Het
Orc1	T	C	4: 108,454,644 (GRCm39)	S345P	probably benign	Het
P4hb	A	T	11: 120,462,469 (GRCm39)	I79N	probably damaging	Het
Phf3	A	T	1: 30,845,399 (GRCm39)	I1262N	probably damaging	Het
Pigo	A	T	4: 43,022,697 (GRCm39)	N291K	probably benign	Het
Ppargc1b	C	T	18: 61,440,845 (GRCm39)	R691H	possibly damaging	Het
Ptprd	A	T	4: 76,046,765 (GRCm39)	D500E	probably damaging	Het
Rab3gap2	T	A	1: 184,965,151 (GRCm39)		probably null	Het
Rnf214	A	G	9: 45,811,361 (GRCm39)	S101P	probably benign	Het
Sdhc	A	G	1: 170,957,396 (GRCm39)	S162P	possibly damaging	Het
Spta1	C	T	1: 174,071,713 (GRCm39)	T2231I	probably damaging	Het
Stxbp2	T	A	8: 3,692,683 (GRCm39)	D578E	probably benign	Het
Tacc2	A	T	7: 130,224,567 (GRCm39)	E417D	possibly damaging	Het
Tas2r144	A	T	6: 42,192,280 (GRCm39)	N7Y	probably benign	Het
Tasp1	A	G	2: 139,676,277 (GRCm39)	*421R	probably null	Het
Tigd5	A	G	15: 75,782,039 (GRCm39)	I134V	possibly damaging	Het
Tmem95	A	T	11: 69,768,843 (GRCm39)	M1K	probably null	Het
Trappc10	T	C	10: 78,024,728 (GRCm39)	M1134V	probably damaging	Het
Unc45a	T	G	7: 79,983,817 (GRCm39)	K326N	probably damaging	Het
Vmn1r59	A	G	7: 5,457,463 (GRCm39)	V99A	probably benign	Het
Vmn2r4	T	C	3: 64,322,519 (GRCm39)	T67A	probably benign	Het
Vmn2r85	A	T	10: 130,262,529 (GRCm39)	M70K	probably benign	Het
Zftraf1	C	A	15: 76,531,930 (GRCm39)	E283*	probably null	Het
Zkscan8	A	G	13: 21,704,748 (GRCm39)	F325S	probably 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
R5516:Ppm1m	UTSW	9	106,075,138 (GRCm39)	missense	probably damaging	0.98
R6278:Ppm1m	UTSW	9	106,074,427 (GRCm39)	missense	probably damaging	1.00
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'- CTCAGGGTAGGTAAAGGCCTAG -3'
(R):5'- AGTAAGGGTGCCATCTTTAGCAG -3'

Sequencing Primer
(F):5'- GGTGGGGGAGGCCACTTTC -3'
(R):5'- ATCTTTAGCAGGGGCCATCG -3'

Posted On

2019-01-16