Mutagenetix > Incidental Mutation

Incidental Mutation 'R5822:Ppp1r15a'

449977

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r15a

Ensembl Gene

ENSMUSG00000040435

Gene Name

protein phosphatase 1, regulatory subunit 15A

Synonyms

Gadd34, Myd116

MMRRC Submission

044052-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

R5822 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45172341-45175692 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45172727 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 555 (V555A)

Ref Sequence

ENSEMBL: ENSMUSP00000128497 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024233] [ENSMUST00000042105] [ENSMUST00000051810] [ENSMUST00000085331] [ENSMUST00000107758] [ENSMUST00000107759] [ENSMUST00000107762] [ENSMUST00000167273] [ENSMUST00000211227] [ENSMUST00000210813] [ENSMUST00000210868] [ENSMUST00000211212]

AlphaFold

P17564

Predicted Effect

probably benign
Transcript: ENSMUST00000024233

SMART Domains

Protein: ENSMUSP00000024233
Gene: ENSMUSG00000023467

Domain	Start	End	E-Value	Type
low complexity region	67	77	N/A	INTRINSIC
low complexity region	212	220	N/A	INTRINSIC
Pfam:Tub	315	556	1.1e-116	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000042105
AA Change: V555A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000049488
Gene: ENSMUSG00000040435
AA Change: V555A

Domain	Start	End	E-Value	Type
low complexity region	149	160	N/A	INTRINSIC
low complexity region	225	234	N/A	INTRINSIC
internal_repeat_1	245	333	1.03e-15	PROSPERO
low complexity region	334	351	N/A	INTRINSIC
internal_repeat_1	357	447	1.03e-15	PROSPERO
low complexity region	448	459	N/A	INTRINSIC
low complexity region	520	530	N/A	INTRINSIC
Pfam:PP1c_bdg	536	612	8.2e-15	PFAM
low complexity region	636	652	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000051810

SMART Domains

Protein: ENSMUSP00000051468
Gene: ENSMUSG00000040428

Domain	Start	End	E-Value	Type
low complexity region	8	27	N/A	INTRINSIC
PH	55	155	8.18e-19	SMART
low complexity region	162	190	N/A	INTRINSIC
low complexity region	228	260	N/A	INTRINSIC
low complexity region	292	303	N/A	INTRINSIC
low complexity region	321	334	N/A	INTRINSIC
coiled coil region	376	419	N/A	INTRINSIC
low complexity region	519	535	N/A	INTRINSIC
low complexity region	608	628	N/A	INTRINSIC
low complexity region	649	659	N/A	INTRINSIC
low complexity region	706	719	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000085331

SMART Domains

Protein: ENSMUSP00000082438
Gene: ENSMUSG00000023467

Domain	Start	End	E-Value	Type
low complexity region	88	96	N/A	INTRINSIC
Pfam:Tub	191	432	6.2e-117	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107758

SMART Domains

Protein: ENSMUSP00000103387
Gene: ENSMUSG00000023467

Domain	Start	End	E-Value	Type
low complexity region	100	108	N/A	INTRINSIC
Pfam:Tub	203	451	4.1e-85	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107759

SMART Domains

Protein: ENSMUSP00000103388
Gene: ENSMUSG00000023467

Domain	Start	End	E-Value	Type
low complexity region	100	108	N/A	INTRINSIC
Pfam:Tub	203	444	3.4e-117	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107762

SMART Domains

Protein: ENSMUSP00000103391
Gene: ENSMUSG00000023467

Domain	Start	End	E-Value	Type
Pfam:Tub_N	39	295	8.8e-36	PFAM
Pfam:Tub	315	556	1.3e-85	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000167273
AA Change: V555A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128497
Gene: ENSMUSG00000040435
AA Change: V555A

Domain	Start	End	E-Value	Type
low complexity region	149	160	N/A	INTRINSIC
low complexity region	225	234	N/A	INTRINSIC
internal_repeat_1	245	333	1.03e-15	PROSPERO
low complexity region	334	351	N/A	INTRINSIC
internal_repeat_1	357	447	1.03e-15	PROSPERO
low complexity region	448	459	N/A	INTRINSIC
low complexity region	520	530	N/A	INTRINSIC
Pfam:PP1c_bdg	531	612	1.1e-20	PFAM
low complexity region	636	652	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141691
AA Change: S810P

Predicted Effect

probably benign
Transcript: ENSMUST00000211227

Predicted Effect

probably benign
Transcript: ENSMUST00000210813

Predicted Effect

probably benign
Transcript: ENSMUST00000210868

Predicted Effect

probably benign
Transcript: ENSMUST00000211212

Meta Mutation Damage Score

0.3680

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

96% (54/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The induction of this gene by ionizing radiation occurs in certain cell lines regardless of p53 status, and its protein response is correlated with apoptosis following ionizing radiation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice show abnormal cellular responses to either ER- or oxidative- stress. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	C	4: 88,786,596 (GRCm39)	I7M	unknown	Het
Abca8a	C	T	11: 109,921,705 (GRCm39)	E1450K	probably damaging	Het
B4galnt2	T	C	11: 95,756,985 (GRCm39)	Y482C	probably damaging	Het
Bud23	A	G	5: 135,092,775 (GRCm39)	F9L	probably damaging	Het
Cacna1s	A	T	1: 136,039,816 (GRCm39)	E1214V	probably damaging	Het
Cdh20	T	C	1: 104,861,823 (GRCm39)	M1T	probably null	Het
Chkb	T	C	15: 89,313,715 (GRCm39)	E30G	probably benign	Het
Crp	A	C	1: 172,525,635 (GRCm39)		probably benign	Het
Cyp11b1	T	C	15: 74,708,670 (GRCm39)	R375G	probably null	Het
Ddx11	C	T	17: 66,436,976 (GRCm39)	S90L	probably benign	Het
Flnc	A	C	6: 29,459,429 (GRCm39)	I2510L	probably damaging	Het
Ftdc1	C	A	16: 58,436,075 (GRCm39)		probably null	Het
Fyb1	T	A	15: 6,692,707 (GRCm39)		probably benign	Het
Gbp3	C	T	3: 142,272,239 (GRCm39)	P247L	probably benign	Het
Ggn	C	T	7: 28,871,981 (GRCm39)	P454S	probably damaging	Het
Herc1	T	A	9: 66,352,894 (GRCm39)	S2127T	probably benign	Het
Ipo11	A	G	13: 106,984,926 (GRCm39)		probably benign	Het
Kcnh7	G	A	2: 62,546,582 (GRCm39)	R1000W	probably benign	Het
Kdm5b	A	T	1: 134,516,511 (GRCm39)		probably benign	Het
Klc3	C	T	7: 19,129,724 (GRCm39)		probably null	Het
Lst1	A	T	17: 35,407,359 (GRCm39)	M3K	unknown	Het
Madd	C	T	2: 90,982,878 (GRCm39)	R1355Q	probably damaging	Het
Map3k10	A	G	7: 27,356,159 (GRCm39)	L920P	probably damaging	Het
Mdga2	A	G	12: 66,702,109 (GRCm39)	V423A	probably damaging	Het
Mogat2	T	C	7: 98,869,112 (GRCm39)	D302G	possibly damaging	Het
Nkapl	A	C	13: 21,652,593 (GRCm39)	S7A	unknown	Het
Npas2	A	G	1: 39,386,647 (GRCm39)	S639G	probably benign	Het
Nr1h5	T	G	3: 102,856,644 (GRCm39)	H260P	probably damaging	Het
Or2g25	T	C	17: 37,971,122 (GRCm39)	Y34C	probably damaging	Het
Or2t49	A	T	11: 58,392,464 (GRCm39)	L306Q	possibly damaging	Het
Or4c35	T	C	2: 89,808,787 (GRCm39)	S222P	probably damaging	Het
Or7a36	C	T	10: 78,820,023 (GRCm39)	T133I	possibly damaging	Het
Or8a1b	T	C	9: 37,623,087 (GRCm39)	M163V	probably benign	Het
Pan2	T	C	10: 128,156,249 (GRCm39)	L1142P	probably damaging	Het
Pdik1l	C	T	4: 134,014,474 (GRCm39)	E11K	possibly damaging	Het
Ppp6c	G	A	2: 39,090,064 (GRCm39)	Q81*	probably null	Het
Pramel18	A	G	4: 101,767,440 (GRCm39)	M230V	probably damaging	Het
Ptprz1	A	T	6: 23,001,444 (GRCm39)	Y1178F	probably benign	Het
Relch	G	A	1: 105,646,581 (GRCm39)	V660M	probably damaging	Het
Rictor	G	A	15: 6,823,487 (GRCm39)	E1555K	probably benign	Het
Rims2	T	A	15: 39,339,886 (GRCm39)	L860Q	probably damaging	Het
Sdr39u1	A	G	14: 56,135,196 (GRCm39)	V249A	probably benign	Het
Serhl	T	C	15: 83,000,528 (GRCm39)	V305A	probably benign	Het
Slc5a11	T	C	7: 122,851,654 (GRCm39)	I201T	probably damaging	Het
Stk32a	A	T	18: 43,446,552 (GRCm39)	E334V	probably benign	Het
Tmem217	A	G	17: 29,745,529 (GRCm39)	L67P	probably damaging	Het
Tnnt1	A	T	7: 4,519,345 (GRCm39)	L12*	probably null	Het
Trim80	C	T	11: 115,338,747 (GRCm39)	R526C	probably damaging	Het
Unc5b	A	T	10: 60,608,306 (GRCm39)	F635I	possibly damaging	Het
Utp20	T	G	10: 88,653,147 (GRCm39)	N311T	probably benign	Het
Zfp276	A	G	8: 123,982,457 (GRCm39)	T74A	probably benign	Het

Other mutations in Ppp1r15a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01982:Ppp1r15a	APN	7	45,173,803 (GRCm39)	unclassified	probably benign
IGL02410:Ppp1r15a	APN	7	45,173,479 (GRCm39)	missense	probably damaging	1.00
IGL02658:Ppp1r15a	APN	7	45,174,091 (GRCm39)	missense	probably benign	0.02
IGL03156:Ppp1r15a	APN	7	45,174,595 (GRCm39)	missense	possibly damaging	0.82
R0179:Ppp1r15a	UTSW	7	45,174,424 (GRCm39)	missense	probably damaging	0.98
R0350:Ppp1r15a	UTSW	7	45,172,442 (GRCm39)	missense	probably damaging	0.99
R1220:Ppp1r15a	UTSW	7	45,173,293 (GRCm39)	missense	probably damaging	1.00
R4296:Ppp1r15a	UTSW	7	45,173,173 (GRCm39)	nonsense	probably null
R4436:Ppp1r15a	UTSW	7	45,174,203 (GRCm39)	missense	probably damaging	1.00
R4854:Ppp1r15a	UTSW	7	45,174,797 (GRCm39)	missense	probably benign	0.01
R6216:Ppp1r15a	UTSW	7	45,173,446 (GRCm39)	missense	probably damaging	1.00
R6574:Ppp1r15a	UTSW	7	45,173,533 (GRCm39)	missense	probably benign	0.01
R9009:Ppp1r15a	UTSW	7	45,174,049 (GRCm39)	missense	probably benign	0.03
R9142:Ppp1r15a	UTSW	7	45,173,920 (GRCm39)	missense	probably damaging	0.99
R9327:Ppp1r15a	UTSW	7	45,174,035 (GRCm39)	missense	possibly damaging	0.80
R9464:Ppp1r15a	UTSW	7	45,174,149 (GRCm39)	missense	possibly damaging	0.94
R9539:Ppp1r15a	UTSW	7	45,174,658 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTCTAAGGCGTGCCCATG -3'
(R):5'- CATGGGTTGCGACTTCTTGC -3'

Sequencing Primer
(F):5'- ATGCTCTGGCCCTGGAATCAG -3'
(R):5'- CTTGCATATGAACTCTGCTGGGAAG -3'

Posted On

2016-12-20