Mutagenetix > Incidental Mutation

Incidental Mutation 'R4765:Gps2'

366077

Institutional Source

Beutler Lab

Gene Symbol

Gps2

Ensembl Gene

ENSMUSG00000023170

Gene Name

G protein pathway suppressor 2

Synonyms

AMF-1

MMRRC Submission

042406-MU

Accession Numbers

Ncbi RefSeq: NM_019726.3; MGI:1891751

Essential gene?

Probably essential (E-score: 0.759) question?

Stock #

R4765 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69913888-69916591 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 69916361 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135185 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043419] [ENSMUST00000057884] [ENSMUST00000061837] [ENSMUST00000070996] [ENSMUST00000071026] [ENSMUST00000072581] [ENSMUST00000108607] [ENSMUST00000108608] [ENSMUST00000108609] [ENSMUST00000108610] [ENSMUST00000108611] [ENSMUST00000108612] [ENSMUST00000108613] [ENSMUST00000108617] [ENSMUST00000116358] [ENSMUST00000134581] [ENSMUST00000133203] [ENSMUST00000177476] [ENSMUST00000152589] [ENSMUST00000177138] [ENSMUST00000153652] [ENSMUST00000164359]

AlphaFold

Q921N8

Predicted Effect

probably benign
Transcript: ENSMUST00000043419

SMART Domains

Protein: ENSMUSP00000047008
Gene: ENSMUSG00000078812

Domain	Start	End	E-Value	Type
SCOP:d1bkb_1	16	82	4e-39	SMART
eIF-5a	83	150	2.43e-29	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000057884

SMART Domains

Protein: ENSMUSP00000054072
Gene: ENSMUSG00000023170

Domain	Start	End	E-Value	Type
Pfam:G_path_suppress	5	294	6.1e-93	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000061837

SMART Domains

Protein: ENSMUSP00000053235
Gene: ENSMUSG00000047284

Domain	Start	End	E-Value	Type
low complexity region	3	44	N/A	INTRINSIC
NEUZ	47	165	1.02e-28	SMART
low complexity region	207	237	N/A	INTRINSIC
NEUZ	317	442	7.22e-52	SMART
low complexity region	492	503	N/A	INTRINSIC
NEUZ	520	644	6.15e-46	SMART
low complexity region	686	700	N/A	INTRINSIC
NEUZ	716	840	7.81e-39	SMART
NEUZ	913	1043	2.27e-17	SMART
low complexity region	1108	1117	N/A	INTRINSIC
NEUZ	1130	1250	4.93e-6	SMART
low complexity region	1453	1464	N/A	INTRINSIC
low complexity region	1474	1483	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000070996

SMART Domains

Protein: ENSMUSP00000067077
Gene: ENSMUSG00000078812

Domain	Start	End	E-Value	Type
SCOP:d1bkb_1	16	82	4e-39	SMART
Pfam:eIF-5a	83	150	4.8e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000071026

SMART Domains

Protein: ENSMUSP00000068651
Gene: ENSMUSG00000078812

Domain	Start	End	E-Value	Type
SCOP:d1bkb_1	16	82	4e-39	SMART
Pfam:eIF-5a	83	150	4.8e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000072581

SMART Domains

Protein: ENSMUSP00000072389
Gene: ENSMUSG00000023170

Domain	Start	End	E-Value	Type
SCOP:d1jjva_	22	83	9e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108607

SMART Domains

Protein: ENSMUSP00000104247
Gene: ENSMUSG00000078812

Domain	Start	End	E-Value	Type
SCOP:d1bkb_1	16	82	4e-39	SMART
Pfam:eIF-5a	83	150	4.8e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108608

SMART Domains

Protein: ENSMUSP00000104248
Gene: ENSMUSG00000078812

Domain	Start	End	E-Value	Type
SCOP:d1bkb_1	16	82	4e-39	SMART
Pfam:eIF-5a	83	150	4.8e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108609

SMART Domains

Protein: ENSMUSP00000104249
Gene: ENSMUSG00000078812

Domain	Start	End	E-Value	Type
SCOP:d1bkb_1	16	82	4e-39	SMART
Pfam:eIF-5a	83	150	4.8e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108610

SMART Domains

Protein: ENSMUSP00000104250
Gene: ENSMUSG00000078812

Domain	Start	End	E-Value	Type
SCOP:d1bkb_1	16	82	4e-39	SMART
Pfam:eIF-5a	83	150	4.8e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108611

SMART Domains

Protein: ENSMUSP00000104251
Gene: ENSMUSG00000078812

Domain	Start	End	E-Value	Type
SCOP:d1bkb_1	16	82	4e-39	SMART
Pfam:eIF-5a	83	150	4.8e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108612

SMART Domains

Protein: ENSMUSP00000104252
Gene: ENSMUSG00000078812

Domain	Start	End	E-Value	Type
SCOP:d1bkb_1	16	82	4e-39	SMART
Pfam:eIF-5a	83	150	4.8e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108613

SMART Domains

Protein: ENSMUSP00000104253
Gene: ENSMUSG00000078812

Domain	Start	End	E-Value	Type
SCOP:d1bkb_1	16	82	4e-39	SMART
Pfam:eIF-5a	83	150	4.8e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108617

SMART Domains

Protein: ENSMUSP00000104257
Gene: ENSMUSG00000047284

Domain	Start	End	E-Value	Type
low complexity region	3	44	N/A	INTRINSIC
NEUZ	47	165	3.5e-31	SMART
low complexity region	207	237	N/A	INTRINSIC
NEUZ	295	420	2.5e-54	SMART
low complexity region	470	481	N/A	INTRINSIC
NEUZ	498	622	2e-48	SMART
low complexity region	664	678	N/A	INTRINSIC
NEUZ	694	818	2.6e-41	SMART
NEUZ	891	1021	7.6e-20	SMART
low complexity region	1086	1095	N/A	INTRINSIC
NEUZ	1108	1228	1.7e-8	SMART
low complexity region	1431	1442	N/A	INTRINSIC
low complexity region	1452	1461	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000116358

SMART Domains

Protein: ENSMUSP00000112062
Gene: ENSMUSG00000023170

Domain	Start	End	E-Value	Type
SCOP:d1jjva_	22	83	9e-3	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000134581
AA Change: L79P

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124596

Predicted Effect

probably benign
Transcript: ENSMUST00000133203

SMART Domains

Protein: ENSMUSP00000117917
Gene: ENSMUSG00000047284

Domain	Start	End	E-Value	Type
NEUZ	60	185	7.22e-52	SMART
low complexity region	235	246	N/A	INTRINSIC
NEUZ	263	387	6.15e-46	SMART
low complexity region	429	443	N/A	INTRINSIC
NEUZ	459	583	7.81e-39	SMART
NEUZ	656	786	2.27e-17	SMART
low complexity region	851	860	N/A	INTRINSIC
Pfam:Neuralized	875	942	6.5e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177476

SMART Domains

Protein: ENSMUSP00000135185
Gene: ENSMUSG00000047284

Domain	Start	End	E-Value	Type
low complexity region	3	44	N/A	INTRINSIC
NEUZ	47	165	1.02e-28	SMART
low complexity region	207	237	N/A	INTRINSIC
NEUZ	317	442	7.22e-52	SMART
low complexity region	492	503	N/A	INTRINSIC
NEUZ	520	644	6.15e-46	SMART
low complexity region	686	700	N/A	INTRINSIC
NEUZ	716	840	7.81e-39	SMART
NEUZ	911	1041	2.27e-17	SMART
low complexity region	1106	1115	N/A	INTRINSIC
NEUZ	1128	1248	4.93e-6	SMART
low complexity region	1451	1462	N/A	INTRINSIC
low complexity region	1472	1481	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152589

SMART Domains

Protein: ENSMUSP00000123402
Gene: ENSMUSG00000078812

Domain	Start	End	E-Value	Type
SCOP:d1bkb_1	16	82	2e-39	SMART
Pfam:eIF-5a	83	149	6.9e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177138

SMART Domains

Protein: ENSMUSP00000135277
Gene: ENSMUSG00000047284

Domain	Start	End	E-Value	Type
low complexity region	3	44	N/A	INTRINSIC
NEUZ	47	165	1.02e-28	SMART
low complexity region	207	237	N/A	INTRINSIC
NEUZ	295	420	7.22e-52	SMART
low complexity region	470	481	N/A	INTRINSIC
NEUZ	498	622	6.15e-46	SMART
low complexity region	664	678	N/A	INTRINSIC
NEUZ	694	818	7.81e-39	SMART
NEUZ	889	1019	2.27e-17	SMART
low complexity region	1084	1093	N/A	INTRINSIC
NEUZ	1106	1226	4.93e-6	SMART
low complexity region	1429	1440	N/A	INTRINSIC
low complexity region	1450	1459	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153652

SMART Domains

Protein: ENSMUSP00000137459
Gene: ENSMUSG00000078812

Domain	Start	End	E-Value	Type
Pfam:eIF-5a	5	72	1.7e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132183

SMART Domains

Protein: ENSMUSP00000118868
Gene: ENSMUSG00000047284

Domain	Start	End	E-Value	Type
low complexity region	161	172	N/A	INTRINSIC
low complexity region	182	191	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164359

SMART Domains

Protein: ENSMUSP00000132717
Gene: ENSMUSG00000078812

Domain	Start	End	E-Value	Type
SCOP:d1bkb_1	16	82	4e-39	SMART
Pfam:eIF-5a	83	150	4.8e-27	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein involved in G protein-mitogen-activated protein kinase (MAPK) signaling cascades. When overexpressed in mammalian cells, this gene could potently suppress a RAS- and MAPK-mediated signal and interfere with JNK activity, suggesting that the function of this gene may be signal repression. The encoded protein is an integral subunit of the NCOR1-HDAC3 (nuclear receptor corepressor 1-histone deacetylase 3) complex, and it was shown that the complex inhibits JNK activation through this subunit and thus could potentially provide an alternative mechanism for hormone-mediated antagonism of AP1 (activator protein 1) function. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality during organogenesis. [provided by MGI curators]

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	C	T	11: 58,881,161	R490C	probably benign	Het
Abcb11	A	T	2: 69,245,867	F1166I	probably damaging	Het
Acta2	T	C	19: 34,246,152	D181G	probably damaging	Het
Adgrv1	A	G	13: 81,106,919	I6195T	probably damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Ankfy1	T	G	11: 72,712,291	S49A	probably benign	Het
Azi2	A	T	9: 118,061,471		probably benign	Het
Bend3	A	T	10: 43,510,750	S380C	probably damaging	Het
Bicc1	T	C	10: 70,940,593	T759A	probably damaging	Het
Cdh10	G	T	15: 19,013,278	V655L	probably damaging	Het
Cdkn2aip	C	A	8: 47,713,547	W75L	probably damaging	Het
Cenpj	G	A	14: 56,549,545	R192*	probably null	Het
Cflar	T	C	1: 58,732,321	S203P	probably damaging	Het
Chd6	A	T	2: 160,966,244	C1683*	probably null	Het
Cpsf2	A	G	12: 101,997,440	Y476C	probably damaging	Het
Cyp4a12a	A	G	4: 115,326,191	D169G	possibly damaging	Het
D430041D05Rik	T	A	2: 104,214,096	R1536S	probably damaging	Het
Depdc5	A	C	5: 32,937,635	D752A	probably damaging	Het
Dnah9	C	T	11: 65,927,726	G78D	probably damaging	Het
Drc1	G	T	5: 30,348,731	Q249H	probably benign	Het
Drg1	T	C	11: 3,250,280	I364V	probably benign	Het
Dtymk	T	C	1: 93,792,909	H130R	probably damaging	Het
Elac2	T	G	11: 64,992,222	F140V	probably damaging	Het
Enpp2	A	G	15: 54,875,672	V353A	possibly damaging	Het
Fat2	T	C	11: 55,281,187	D2900G	probably damaging	Het
Fermt2	G	T	14: 45,462,236	T536K	probably benign	Het
Foxj2	G	T	6: 122,833,271	Q196H	probably benign	Het
Gadl1	A	G	9: 115,966,313	K328R	probably null	Het
Gata6	A	G	18: 11,054,394	T108A	probably benign	Het
Gm16503	G	T	4: 147,541,097	G16V	unknown	Het
Gpr37	T	G	6: 25,669,108	E579A	probably damaging	Het
Hcn4	A	T	9: 58,857,977	I581F	unknown	Het
Hfm1	T	A	5: 106,842,539	Y1335F	probably benign	Het
Igsf10	A	T	3: 59,329,705	S1018R	probably benign	Het
Katnal2	C	T	18: 76,977,543		probably null	Het
Kctd8	T	C	5: 69,340,848	K152E	possibly damaging	Het
Lrp8	T	C	4: 107,854,395	C459R	probably damaging	Het
Ly6l	A	T	15: 75,449,694	I48L	probably benign	Het
Megf10	A	T	18: 57,287,794	I835F	possibly damaging	Het
Mei1	A	T	15: 82,112,485	I946F	possibly damaging	Het
Mkl2	C	A	16: 13,412,594	P1048T	probably damaging	Het
Myo7b	G	C	18: 31,961,900	L1881V	probably benign	Het
Nfkbiz	T	C	16: 55,819,024		probably null	Het
Olfr142	T	A	2: 90,252,463	Y175F	probably damaging	Het
Olfr1449	T	C	19: 12,935,076	C113R	possibly damaging	Het
Pcdhgc5	T	C	18: 37,822,069	S799P	probably benign	Het
Plk4	A	G	3: 40,802,022	E97G	probably damaging	Het
Pole2	A	T	12: 69,222,052	H114Q	possibly damaging	Het
Rad9a	C	A	19: 4,200,489	V109L	probably benign	Het
Scn8a	A	G	15: 101,040,471	H1917R	probably benign	Het
Scyl2	C	T	10: 89,659,298	V304I	probably damaging	Het
Serpina3f	G	C	12: 104,219,431	E298D	probably benign	Het
Shoc2	A	G	19: 53,988,303	E208G	probably benign	Het
Sin3a	G	A	9: 57,096,803	V280I	probably benign	Het
Slc26a2	A	T	18: 61,199,486	I291N	probably damaging	Het
Slc4a7	T	G	14: 14,762,414	D600E	probably damaging	Het
Slc5a6	A	T	5: 31,038,083	F430L	possibly damaging	Het
Snx19	A	C	9: 30,440,157	Q840H	probably damaging	Het
Spast	C	A	17: 74,369,216	D340E	probably damaging	Het
Sprr4	G	A	3: 92,500,409	P29S	unknown	Het
Stk11ip	T	G	1: 75,527,155	L239R	probably damaging	Het
Thoc6	A	G	17: 23,670,888	L20P	probably damaging	Het
Tnfrsf8	A	T	4: 145,296,877	S129T	probably benign	Het
Tnrc6c	A	G	11: 117,742,927	I1284V	probably benign	Het
Ttn	A	G	2: 76,710,987	L33885P	probably damaging	Het
Ttn	T	C	2: 76,772,507	Y16711C	probably damaging	Het
Ubn2	T	A	6: 38,479,140	C501S	probably damaging	Het
Ubr1	A	T	2: 120,963,442	L87*	probably null	Het
Uhmk1	T	C	1: 170,199,901	Y320C	probably damaging	Het
Vldlr	T	C	19: 27,240,547	V465A	probably damaging	Het
Vmn1r1	C	T	1: 182,157,906	A65T	probably benign	Het
Vmn2r25	C	T	6: 123,823,223	C720Y	probably damaging	Het
Xrra1	T	C	7: 99,906,568	Y381H	probably benign	Het
Zfhx4	T	C	3: 5,400,152	L1790P	probably benign	Het
Zscan4d	T	A	7: 11,162,667	M259L	probably benign	Het

Other mutations in Gps2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0067:Gps2	UTSW	11	69914781	nonsense	probably null
R0067:Gps2	UTSW	11	69914781	nonsense	probably null
R1086:Gps2	UTSW	11	69915224	unclassified	probably benign
R1109:Gps2	UTSW	11	69915681	missense	possibly damaging	0.94
R1938:Gps2	UTSW	11	69915369	missense	probably benign
R1964:Gps2	UTSW	11	69916420	missense	probably benign	0.03
R2355:Gps2	UTSW	11	69915381	frame shift	probably null
R3773:Gps2	UTSW	11	69916101	missense	probably damaging	0.99
R4811:Gps2	UTSW	11	69915928	missense	probably damaging	0.99
R5119:Gps2	UTSW	11	69914791	missense	probably benign	0.00
R5183:Gps2	UTSW	11	69915197	missense	probably benign	0.00
R5218:Gps2	UTSW	11	69916295	critical splice donor site	probably null
R5965:Gps2	UTSW	11	69914794	missense	possibly damaging	0.60
R7172:Gps2	UTSW	11	69916436	missense	probably benign	0.40
R7562:Gps2	UTSW	11	69916482	missense	probably benign	0.40
R7854:Gps2	UTSW	11	69915204	missense	probably damaging	1.00
R8524:Gps2	UTSW	11	69915006	missense	probably damaging	0.99
R8713:Gps2	UTSW	11	69915354	missense	probably benign	0.01
Z1186:Gps2	UTSW	11	69916304	missense	probably benign	0.26
Z1187:Gps2	UTSW	11	69916304	missense	probably benign	0.26
Z1188:Gps2	UTSW	11	69916304	missense	probably benign	0.26
Z1189:Gps2	UTSW	11	69916304	missense	probably benign	0.26
Z1190:Gps2	UTSW	11	69916304	missense	probably benign	0.26
Z1191:Gps2	UTSW	11	69916304	missense	probably benign	0.26
Z1192:Gps2	UTSW	11	69916304	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- TGCCTCCCTTTAAGGTCAGC -3'
(R):5'- TTGGTTTGGGGCACATAAGACC -3'

Sequencing Primer
(F):5'- AAGGTCAGCTTTGTCTCCTAG -3'
(R):5'- ATAAGACCCCAGCCTGAGGG -3'

Posted On

2015-12-21