Mutagenetix > Incidental Mutation

Incidental Mutation 'R9009:Ppp1r15a'

685501

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r15a

Ensembl Gene

ENSMUSG00000040435

Gene Name

protein phosphatase 1, regulatory subunit 15A

Synonyms

Gadd34, Myd116

MMRRC Submission

068839-MU

Accession Numbers

Essential gene?

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

Stock #

R9009 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45172341-45175692 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45174049 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 253 (V253E)

Ref Sequence

ENSEMBL: ENSMUSP00000049488 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000042105
AA Change: V253E

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000049488
Gene: ENSMUSG00000040435
AA Change: V253E

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 benign
Transcript: ENSMUST00000167273
AA Change: V253E

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000128497
Gene: ENSMUSG00000040435
AA Change: V253E

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

probably benign
Transcript: ENSMUST00000210813

Predicted Effect

probably benign
Transcript: ENSMUST00000210868

Predicted Effect

probably benign
Transcript: ENSMUST00000211212

Predicted Effect

probably benign
Transcript: ENSMUST00000211227

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

94% (58/62)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	T	A	8: 120,878,279 (GRCm39)		probably benign	Het
Ahctf1	C	T	1: 179,581,171 (GRCm39)	S1677N	probably benign	Het
Ank2	T	C	3: 126,728,025 (GRCm39)		probably benign	Het
Arid3c	A	T	4: 41,729,925 (GRCm39)	I90N	probably benign	Het
Asb1	C	A	1: 91,480,205 (GRCm39)	D301E	unknown	Het
Asb1	T	G	1: 91,480,206 (GRCm39)	*302G	probably null	Het
Birc2	A	T	9: 7,833,937 (GRCm39)	F181L	probably benign	Het
Bnip1	T	A	17: 27,001,590 (GRCm39)		probably benign	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Cd2ap	T	C	17: 43,116,135 (GRCm39)	D575G	possibly damaging	Het
Cdca7	T	A	2: 72,314,273 (GRCm39)	H248Q	probably damaging	Het
Chd2	T	C	7: 73,143,192 (GRCm39)	D567G	probably benign	Het
Chd2	T	C	7: 73,140,402 (GRCm39)	I609V	probably benign	Het
Cnmd	T	A	14: 79,894,085 (GRCm39)	T101S	probably damaging	Het
Col6a4	T	C	9: 105,954,404 (GRCm39)	T312A	probably benign	Het
Cript	C	A	17: 87,338,475 (GRCm39)	T41N	probably damaging	Het
Cts6	T	C	13: 61,344,261 (GRCm39)	I264V	probably benign	Het
Cyp4a32	C	T	4: 115,467,802 (GRCm39)	T262I	probably null	Het
D430041D05Rik	T	A	2: 104,240,521 (GRCm39)		probably benign	Het
Dctd	C	T	8: 48,564,712 (GRCm39)	P5S	probably benign	Het
Det1	T	C	7: 78,492,984 (GRCm39)	N340S	probably benign	Het
Dnah7b	A	G	1: 46,262,232 (GRCm39)	N2032D	probably benign	Het
Dscam	T	A	16: 96,840,116 (GRCm39)	T164S	probably benign	Het
Emcn	T	C	3: 137,124,775 (GRCm39)	V196A	possibly damaging	Het
Fbxo32	A	G	15: 58,046,358 (GRCm39)	I284T	possibly damaging	Het
Gimap3	C	A	6: 48,742,094 (GRCm39)	D279Y	possibly damaging	Het
Gm43302	C	T	5: 105,427,974 (GRCm39)	D196N	probably benign	Het
Gpc6	C	A	14: 117,424,217 (GRCm39)	H102N	possibly damaging	Het
Gpr158	A	T	2: 21,581,760 (GRCm39)	D413V	probably damaging	Het
Ifi207	T	C	1: 173,555,382 (GRCm39)	R767G	probably damaging	Het
Kcnip2	T	C	19: 45,800,634 (GRCm39)		probably benign	Het
Kifap3	A	C	1: 163,696,291 (GRCm39)	D640A	probably damaging	Het
Lmbrd2	A	T	15: 9,157,311 (GRCm39)	Q183L	possibly damaging	Het
Malt1	A	G	18: 65,577,911 (GRCm39)	I135V	probably benign	Het
Mfhas1	T	C	8: 36,057,109 (GRCm39)	V528A	probably damaging	Het
Mllt10	T	C	2: 18,167,163 (GRCm39)	S363P	probably damaging	Het
Mrnip	A	G	11: 50,073,323 (GRCm39)	Y44C	probably damaging	Het
Mstn	C	T	1: 53,103,131 (GRCm39)	Q156*	probably null	Het
Mtmr7	T	C	8: 41,008,904 (GRCm39)	D469G	possibly damaging	Het
Muc6	A	G	7: 141,217,018 (GRCm39)	S2552P	possibly damaging	Het
Myo1f	C	A	17: 33,823,662 (GRCm39)	N1063K	probably benign	Het
Or52k2	T	A	7: 102,253,642 (GRCm39)	I27N	probably benign	Het
Or5af1	A	T	11: 58,722,280 (GRCm39)	Y100F	probably benign	Het
Or6z5	G	A	7: 6,477,399 (GRCm39)	V97M	probably benign	Het
Orai2	A	G	5: 136,179,430 (GRCm39)	V201A	possibly damaging	Het
Pcdhga6	A	T	18: 37,841,878 (GRCm39)	T533S	possibly damaging	Het
Pkd1l1	T	A	11: 8,881,552 (GRCm39)	K907N		Het
Plaat5	G	T	19: 7,614,823 (GRCm39)	M228I	probably benign	Het
Ppp1r9b	A	G	11: 94,887,467 (GRCm39)	E493G	probably benign	Het
Prdm1	T	C	10: 44,322,997 (GRCm39)	N151S	probably benign	Het
Prkcd	C	T	14: 30,329,297 (GRCm39)	A163T	probably damaging	Het
Prl7a2	T	A	13: 27,849,994 (GRCm39)	E26V	probably damaging	Het
Ptprm	A	T	17: 66,996,354 (GRCm39)	N1278K	probably damaging	Het
Ptprz1	T	A	6: 23,001,653 (GRCm39)	S1248T	possibly damaging	Het
Scn9a	T	C	2: 66,338,927 (GRCm39)	I1186M	probably damaging	Het
Sv2a	T	C	3: 96,094,409 (GRCm39)	F248S	probably benign	Het
Tas2r116	T	A	6: 132,832,963 (GRCm39)	I188K	probably damaging	Het
Tcf21	T	C	10: 22,693,671 (GRCm39)	T169A	probably benign	Het
Tecrl	C	A	5: 83,432,121 (GRCm39)	C258F	probably damaging	Het
Tet2	T	A	3: 133,193,360 (GRCm39)	E358V	possibly damaging	Het
Thada	A	T	17: 84,759,203 (GRCm39)	S219T	possibly damaging	Het
Tpgs2	T	A	18: 25,301,777 (GRCm39)		probably benign	Het
Ttc6	A	T	12: 57,744,219 (GRCm39)	I1284F	probably damaging	Het
Vmn1r160	T	C	7: 22,571,127 (GRCm39)	V160A	possibly damaging	Het
Vmn1r44	T	C	6: 89,870,671 (GRCm39)	L139P	probably damaging	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
R5822:Ppp1r15a	UTSW	7	45,172,727 (GRCm39)	missense	probably damaging	1.00
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
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'- TGAGCTGTGTCTTCCTCAGC -3'
(R):5'- TGGTCCAGCTGAGAATGAAG -3'

Sequencing Primer
(F):5'- CAGCTGAATCCGAATCGCTGTTG -3'
(R):5'- GTGAAGACTTACCAAGCTTCTGC -3'

Posted On

2021-10-11