Mutagenetix > Incidental Mutation

Incidental Mutation 'R8160:Ppm1h'

633478

Institutional Source

Beutler Lab

Gene Symbol

Ppm1h

Ensembl Gene

ENSMUSG00000034613

Gene Name

protein phosphatase 1H (PP2C domain containing)

Synonyms

ARHCL1, A430075L18Rik, C030002B11Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R8160 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122678762-122945795 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122802436 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 204 (T204S)

Ref Sequence

ENSEMBL: ENSMUSP00000066561 (fasta)

Gene Model

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

AlphaFold

Q3UYC0

Predicted Effect

probably benign
Transcript: ENSMUST00000067918
AA Change: T204S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000066561
Gene: ENSMUSG00000034613
AA Change: T204S

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

probably benign
Transcript: ENSMUST00000161487
AA Change: T204S

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000124982
Gene: ENSMUSG00000034613
AA Change: T204S

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

Meta Mutation Damage Score

0.0706

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.7%

Validation Efficiency

100% (32/32)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930415F15Rik	T	C	11: 11,487,734	S246P	unknown	Het
Adam12	C	T	7: 133,968,041		probably null	Het
Aldh8a1	A	G	10: 21,395,791	D472G	possibly damaging	Het
Appl1	T	C	14: 26,928,635	I527V	probably benign	Het
Arhgef4	C	A	1: 34,723,574	T637K	unknown	Het
Atp7b	G	A	8: 21,997,559	A1273V	probably damaging	Het
Ccl20	T	A	1: 83,117,822	S35T		Het
Cdh24	C	A	14: 54,638,489	V208F	probably damaging	Het
Dchs2	A	T	3: 83,270,805	Q1055L	probably benign	Het
Dock8	G	A	19: 25,147,347	R1009Q	probably damaging	Het
Ext2	A	T	2: 93,813,762	V58E	probably benign	Het
Fam208a	T	A	14: 27,449,956	N420K	probably damaging	Het
Fam209	A	T	2: 172,472,725	I45F	possibly damaging	Het
Hfm1	T	C	5: 106,896,033	Y579C	probably null	Het
Hipk4	C	T	7: 27,523,761	A82V	possibly damaging	Het
Il17rc	A	G	6: 113,476,528	Y223C	possibly damaging	Het
Itsn1	G	A	16: 91,818,558	R397H	unknown	Het
Kdm5b	T	A	1: 134,613,919	M744K	probably damaging	Het
Mettl16	T	C	11: 74,817,679	V568A	probably damaging	Het
Mink1	C	T	11: 70,606,081	Q422*	probably null	Het
Mvb12b	G	T	2: 33,840,222	D81E	probably benign	Het
Nostrin	A	T	2: 69,179,466	I313F	probably damaging	Het
Nsun6	A	G	2: 15,009,408		probably null	Het
Nt5dc1	T	A	10: 34,324,396	E209V	possibly damaging	Het
Oasl2	T	C	5: 114,901,286		probably benign	Het
Olfr303	C	T	7: 86,395,265	V78M	possibly damaging	Het
Olfr517	C	T	7: 108,868,788	R122Q	possibly damaging	Het
Olfr857	T	A	9: 19,712,789		probably benign	Het
Rad51b	T	A	12: 79,303,341	L70I	probably benign	Het
Smok3c	A	G	5: 138,065,024	T258A	possibly damaging	Het
Snai2	T	C	16: 14,706,804	V58A	possibly damaging	Het
St6galnac1	G	A	11: 116,775,490		probably benign	Het

Other mutations in Ppm1h

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01025:Ppm1h	APN	10	122878629	critical splice donor site	probably null
IGL01060:Ppm1h	APN	10	122907571	missense	possibly damaging	0.49
IGL01557:Ppm1h	APN	10	122782181	critical splice acceptor site	probably null
IGL01608:Ppm1h	APN	10	122941280	nonsense	probably null
IGL02112:Ppm1h	APN	10	122802400	missense	possibly damaging	0.86
R0129:Ppm1h	UTSW	10	122941355	missense	probably damaging	0.97
R0217:Ppm1h	UTSW	10	122920735	missense	probably damaging	1.00
R0309:Ppm1h	UTSW	10	122920782	missense	probably damaging	1.00
R0455:Ppm1h	UTSW	10	122802324	missense	probably benign	0.00
R1144:Ppm1h	UTSW	10	122941278	missense	probably benign	0.01
R1430:Ppm1h	UTSW	10	122857099	missense	probably damaging	1.00
R2014:Ppm1h	UTSW	10	122920725	missense	possibly damaging	0.79
R2021:Ppm1h	UTSW	10	122878528	nonsense	probably null
R2882:Ppm1h	UTSW	10	122941334	missense	probably damaging	0.99
R3767:Ppm1h	UTSW	10	122904122	missense	probably damaging	1.00
R3768:Ppm1h	UTSW	10	122904122	missense	probably damaging	1.00
R3770:Ppm1h	UTSW	10	122904122	missense	probably damaging	1.00
R4816:Ppm1h	UTSW	10	122679379	missense	possibly damaging	0.89
R4996:Ppm1h	UTSW	10	122941340	missense	probably damaging	1.00
R5640:Ppm1h	UTSW	10	122782278	missense	probably benign	0.30
R6199:Ppm1h	UTSW	10	122920739	missense	probably damaging	1.00
R7759:Ppm1h	UTSW	10	122904113	missense	probably benign
R7991:Ppm1h	UTSW	10	122782247	missense	probably benign	0.00
R8300:Ppm1h	UTSW	10	122782213	missense	probably damaging	1.00
R8906:Ppm1h	UTSW	10	122878546	missense	probably damaging	1.00
R9104:Ppm1h	UTSW	10	122802359	missense	probably benign	0.01
R9459:Ppm1h	UTSW	10	122907577	missense	possibly damaging	0.62
R9755:Ppm1h	UTSW	10	122802260	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTACACAGATCCTCACTTC -3'
(R):5'- AGCAAGGAAGTTTTGGCGC -3'

Sequencing Primer
(F):5'- CCGAAGGCATCTCCTGC -3'
(R):5'- CGCGAGCTACATCAATGGC -3'

Posted On

2020-07-13