Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01982:Ppp1r15a'

182742

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppp1r15a

Ensembl Gene

ENSMUSG00000040435

Gene Name

protein phosphatase 1, regulatory subunit 15A

Synonyms

Gadd34, Myd116

Accession Numbers

Essential gene?

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

Stock #

IGL01982

Quality Score

Status

Chromosome

Chromosomal Location

45172341-45175692 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 45173803 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148001 (fasta)

Gene Model

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

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

unknown
Transcript: ENSMUST00000042105
AA Change: D335G

SMART Domains

Protein: ENSMUSP00000049488
Gene: ENSMUSG00000040435
AA Change: D335G

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

unknown
Transcript: ENSMUST00000167273
AA Change: D335G

SMART Domains

Protein: ENSMUSP00000128497
Gene: ENSMUSG00000040435
AA Change: D335G

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: T590A

Predicted Effect

probably benign
Transcript: ENSMUST00000211212

Predicted Effect

probably benign
Transcript: ENSMUST00000211227

Predicted Effect

probably benign
Transcript: ENSMUST00000210813

Predicted Effect

probably benign
Transcript: ENSMUST00000210868

Coding Region Coverage

Validation Efficiency

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	C	1: 71,385,857 (GRCm39)	S254A	probably benign	Het
Abca7	T	G	10: 79,838,475 (GRCm39)	L583R	probably damaging	Het
Acp1	A	T	12: 30,961,491 (GRCm39)	L14H	possibly damaging	Het
Adar	A	G	3: 89,645,397 (GRCm39)	I3V	probably benign	Het
Adh4	C	T	3: 138,134,788 (GRCm39)		probably benign	Het
Aldh1l1	A	G	6: 90,536,845 (GRCm39)	I103V	probably benign	Het
Asic3	C	A	5: 24,622,719 (GRCm39)	T523N	probably benign	Het
Aspm	T	C	1: 139,419,326 (GRCm39)	V1732A	probably benign	Het
Atad3a	C	T	4: 155,838,384 (GRCm39)	R211Q	possibly damaging	Het
Bahcc1	A	G	11: 120,178,299 (GRCm39)	Y2286C	probably damaging	Het
BC034090	T	C	1: 155,099,078 (GRCm39)	E569G	probably damaging	Het
Bpifb3	A	G	2: 153,767,521 (GRCm39)	N237S	probably benign	Het
Bysl	C	A	17: 47,921,996 (GRCm39)		probably null	Het
C2cd6	T	C	1: 59,106,932 (GRCm39)		probably benign	Het
Ccdc141	A	G	2: 76,861,003 (GRCm39)	F925L	probably damaging	Het
Cdca2	A	T	14: 67,915,168 (GRCm39)	V697E	probably damaging	Het
Cers1	A	G	8: 70,776,081 (GRCm39)	D324G	probably damaging	Het
Ctsq	T	A	13: 61,186,732 (GRCm39)	I91F	probably benign	Het
Ctsq	C	T	13: 61,187,335 (GRCm39)	C11Y	probably benign	Het
Cyp11b1	T	C	15: 74,711,252 (GRCm39)	N142S	possibly damaging	Het
Cyp3a59	G	T	5: 146,041,545 (GRCm39)	S363I	probably benign	Het
Eps15l1	A	T	8: 73,132,919 (GRCm39)	D567E	probably benign	Het
Esf1	G	A	2: 140,006,448 (GRCm39)	A233V	probably benign	Het
Fras1	A	T	5: 96,887,107 (GRCm39)	I2630F	possibly damaging	Het
Fyb1	A	T	15: 6,609,658 (GRCm39)	E77V	probably null	Het
Gjb6	C	A	14: 57,362,030 (GRCm39)	W77L	probably damaging	Het
Gm21983	A	G	7: 26,879,703 (GRCm39)	V88A	possibly damaging	Het
Gm8247	A	G	14: 44,823,088 (GRCm39)	T52A	probably damaging	Het
Gpr108	T	C	17: 57,544,877 (GRCm39)	K329E	probably damaging	Het
Gpr141	T	A	13: 19,935,908 (GRCm39)	H289L	probably benign	Het
Ilvbl	T	C	10: 78,414,856 (GRCm39)	Y240H	probably damaging	Het
Kntc1	G	A	5: 123,947,159 (GRCm39)	A1868T	probably benign	Het
Lrmda	A	C	14: 22,634,550 (GRCm39)	N112T	probably damaging	Het
Ly75	T	C	2: 60,142,108 (GRCm39)	Y1334C	probably damaging	Het
Macc1	C	A	12: 119,409,369 (GRCm39)	P46T	probably benign	Het
Madd	A	T	2: 91,006,052 (GRCm39)	F381Y	probably damaging	Het
Map3k20	C	T	2: 72,128,677 (GRCm39)	Q38*	probably null	Het
Mcm4	A	T	16: 15,448,284 (GRCm39)	D424E	possibly damaging	Het
Micu1	T	A	10: 59,699,100 (GRCm39)	M463K	possibly damaging	Het
Mkrn2os	A	G	6: 115,562,492 (GRCm39)	L157P	probably damaging	Het
Nectin2	A	G	7: 19,451,487 (GRCm39)	S516P	probably damaging	Het
Nme5	T	A	18: 34,702,928 (GRCm39)	D120V	probably damaging	Het
Npy4r	T	C	14: 33,869,282 (GRCm39)	N2S	possibly damaging	Het
Nup107	A	T	10: 117,595,245 (GRCm39)		probably benign	Het
Omd	T	C	13: 49,742,973 (GRCm39)	Y8H	possibly damaging	Het
Phf8-ps	T	G	17: 33,285,289 (GRCm39)	E504D	probably benign	Het
Ppp2ca	T	C	11: 51,989,891 (GRCm39)	F6L	probably benign	Het
Rab1a	T	C	11: 20,174,717 (GRCm39)	S97P	probably benign	Het
Ranbp3l	G	A	15: 9,058,827 (GRCm39)	G359R	probably damaging	Het
Rnf213	A	T	11: 119,334,094 (GRCm39)	H3101L	probably damaging	Het
Slc27a4	T	C	2: 29,702,627 (GRCm39)	F509S	probably damaging	Het
Slco4a1	T	C	2: 180,114,946 (GRCm39)	V623A	probably benign	Het
Spart	T	A	3: 55,035,911 (GRCm39)		probably null	Het
Sptan1	A	G	2: 29,909,980 (GRCm39)	D1780G	probably damaging	Het
Tgm7	G	T	2: 120,924,106 (GRCm39)	Y605*	probably null	Het
Tmem106b	T	C	6: 13,071,968 (GRCm39)		probably benign	Het
Trak2	G	A	1: 58,965,814 (GRCm39)	A120V	possibly damaging	Het
Trappc8	G	A	18: 21,007,769 (GRCm39)		probably benign	Het
Trim66	T	C	7: 109,057,970 (GRCm39)	T973A	probably benign	Het
Ttyh3	C	A	5: 140,621,829 (GRCm39)		probably benign	Het
Ugt2b37	A	C	5: 87,390,291 (GRCm39)	I385S	probably damaging	Het
Usf3	A	G	16: 44,039,180 (GRCm39)	N1220S	possibly damaging	Het
Utrn	A	T	10: 12,623,773 (GRCm39)	I155N	probably damaging	Het
Vps13b	C	T	15: 35,439,050 (GRCm39)	Q377*	probably null	Het
Washc2	A	T	6: 116,213,150 (GRCm39)	E570D	probably benign	Het
Wscd1	T	C	11: 71,657,699 (GRCm39)	V168A	possibly damaging	Het
Zfp386	T	A	12: 116,022,788 (GRCm39)	C169S	probably benign	Het

Other mutations in Ppp1r15a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2014-05-07