Incidental Mutation 'R0067:Gps2'
ID 59653
Institutional Source Beutler Lab
Gene Symbol Gps2
Ensembl Gene ENSMUSG00000023170
Gene Name G protein pathway suppressor 2
Synonyms
MMRRC Submission 038358-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.891) question?
Stock # R0067 (G1)
Quality Score 184
Status Validated
Chromosome 11
Chromosomal Location 69804714-69807417 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 69805607 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 42 (Q42*)
Ref Sequence ENSEMBL: ENSMUSP00000112062 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043419] [ENSMUST00000057884] [ENSMUST00000061837] [ENSMUST00000070996] [ENSMUST00000071026] [ENSMUST00000072581] [ENSMUST00000108607] [ENSMUST00000116358] [ENSMUST00000134581] [ENSMUST00000108608] [ENSMUST00000108611] [ENSMUST00000108617] [ENSMUST00000108609] [ENSMUST00000108610] [ENSMUST00000133203] [ENSMUST00000108612] [ENSMUST00000152589] [ENSMUST00000108613] [ENSMUST00000177476] [ENSMUST00000177138] [ENSMUST00000153652] [ENSMUST00000164359]
AlphaFold Q921N8
Predicted Effect probably benign
Transcript: ENSMUST00000043419
SMART Domains Protein: ENSMUSP00000047008
Gene: ENSMUSG00000078812

DomainStartEndE-ValueType
SCOP:d1bkb_1 16 82 4e-39 SMART
eIF-5a 83 150 2.43e-29 SMART
Predicted Effect probably null
Transcript: ENSMUST00000057884
AA Change: Q42*
SMART Domains Protein: ENSMUSP00000054072
Gene: ENSMUSG00000023170
AA Change: Q42*

DomainStartEndE-ValueType
Pfam:G_path_suppress 5 294 6.1e-93 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000061837
SMART Domains Protein: ENSMUSP00000053235
Gene: ENSMUSG00000047284

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
SCOP:d1bkb_1 16 82 4e-39 SMART
Pfam:eIF-5a 83 150 4.8e-27 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000072581
AA Change: Q42*
SMART Domains Protein: ENSMUSP00000072389
Gene: ENSMUSG00000023170
AA Change: Q42*

DomainStartEndE-ValueType
SCOP:d1jjva_ 22 83 9e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108607
SMART Domains Protein: ENSMUSP00000104247
Gene: ENSMUSG00000078812

DomainStartEndE-ValueType
SCOP:d1bkb_1 16 82 4e-39 SMART
Pfam:eIF-5a 83 150 4.8e-27 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000116358
AA Change: Q42*
SMART Domains Protein: ENSMUSP00000112062
Gene: ENSMUSG00000023170
AA Change: Q42*

DomainStartEndE-ValueType
SCOP:d1jjva_ 22 83 9e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143861
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124596
Predicted Effect probably benign
Transcript: ENSMUST00000134581
Predicted Effect probably benign
Transcript: ENSMUST00000108608
SMART Domains Protein: ENSMUSP00000104248
Gene: ENSMUSG00000078812

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000108609
SMART Domains Protein: ENSMUSP00000104249
Gene: ENSMUSG00000078812

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
SCOP:d1bkb_1 16 82 4e-39 SMART
Pfam:eIF-5a 83 150 4.8e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133203
SMART Domains Protein: ENSMUSP00000117917
Gene: ENSMUSG00000047284

DomainStartEndE-ValueType
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: ENSMUST00000108612
SMART Domains Protein: ENSMUSP00000104252
Gene: ENSMUSG00000078812

DomainStartEndE-ValueType
SCOP:d1bkb_1 16 82 4e-39 SMART
Pfam:eIF-5a 83 150 4.8e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132183
SMART Domains Protein: ENSMUSP00000118868
Gene: ENSMUSG00000047284

DomainStartEndE-ValueType
low complexity region 161 172 N/A INTRINSIC
low complexity region 182 191 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000152589
SMART Domains Protein: ENSMUSP00000123402
Gene: ENSMUSG00000078812

DomainStartEndE-ValueType
SCOP:d1bkb_1 16 82 2e-39 SMART
Pfam:eIF-5a 83 149 6.9e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108613
SMART Domains Protein: ENSMUSP00000104253
Gene: ENSMUSG00000078812

DomainStartEndE-ValueType
SCOP:d1bkb_1 16 82 4e-39 SMART
Pfam:eIF-5a 83 150 4.8e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175761
Predicted Effect probably benign
Transcript: ENSMUST00000177476
SMART Domains Protein: ENSMUSP00000135185
Gene: ENSMUSG00000047284

DomainStartEndE-ValueType
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: ENSMUST00000177138
SMART Domains Protein: ENSMUSP00000135277
Gene: ENSMUSG00000047284

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:eIF-5a 5 72 1.7e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164359
SMART Domains Protein: ENSMUSP00000132717
Gene: ENSMUSG00000078812

DomainStartEndE-ValueType
SCOP:d1bkb_1 16 82 4e-39 SMART
Pfam:eIF-5a 83 150 4.8e-27 PFAM
Meta Mutation Damage Score 0.9712 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.3%
Validation Efficiency 97% (63/65)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn4 C T 7: 28,610,995 (GRCm39) V248M possibly damaging Het
Adamts9 T A 6: 92,867,148 (GRCm39) K79N probably damaging Het
AW209491 A T 13: 14,812,328 (GRCm39) I394F probably benign Het
Cacna1d A T 14: 29,796,967 (GRCm39) probably benign Het
Cacna1i A T 15: 80,265,373 (GRCm39) I1542F probably damaging Het
Cep97 A T 16: 55,735,924 (GRCm39) N291K possibly damaging Het
Clasp2 A T 9: 113,689,209 (GRCm39) probably benign Het
Coq8b T C 7: 26,932,906 (GRCm39) L5P possibly damaging Het
Dennd1c T C 17: 57,382,465 (GRCm39) Q67R probably damaging Het
Dysf T C 6: 84,040,313 (GRCm39) V119A possibly damaging Het
Eml1 A G 12: 108,429,786 (GRCm39) D23G possibly damaging Het
Eva1c A T 16: 90,663,305 (GRCm39) D13V possibly damaging Het
Fam151b T C 13: 92,610,504 (GRCm39) K95R probably benign Het
Glo1 A T 17: 30,813,245 (GRCm39) probably null Het
Gm11360 T A 13: 28,140,214 (GRCm39) M26K probably benign Het
Gypa A G 8: 81,229,710 (GRCm39) H102R possibly damaging Het
Hdac4 G A 1: 91,957,706 (GRCm39) H103Y probably damaging Het
Hivep1 T A 13: 42,312,132 (GRCm39) D1457E probably benign Het
Hunk A G 16: 90,244,200 (GRCm39) D110G probably damaging Het
L3mbtl1 A G 2: 162,790,748 (GRCm39) K225E probably damaging Het
Limch1 A G 5: 67,131,965 (GRCm39) S143G probably damaging Het
Macf1 T C 4: 123,369,041 (GRCm39) K342E possibly damaging Het
Mc5r T A 18: 68,472,637 (GRCm39) M332K probably damaging Het
Memo1 A G 17: 74,532,453 (GRCm39) V185A probably damaging Het
Mtrex C T 13: 113,023,396 (GRCm39) V727I probably benign Het
Myf6 A T 10: 107,329,340 (GRCm39) probably null Het
Myh14 G A 7: 44,272,551 (GRCm39) T1418I probably benign Het
Pbk G A 14: 66,052,675 (GRCm39) V173I possibly damaging Het
Plekha5 C T 6: 140,470,629 (GRCm39) T90I probably damaging Het
Ptbp2 T C 3: 119,514,290 (GRCm39) T478A probably benign Het
Rasgrp1 C A 2: 117,125,301 (GRCm39) R246S probably damaging Het
Rflnb A T 11: 75,912,987 (GRCm39) S134T possibly damaging Het
Rnf214 A G 9: 45,778,796 (GRCm39) probably null Het
Rps6ka5 T A 12: 100,582,342 (GRCm39) I177F probably damaging Het
Rtn2 T A 7: 19,028,396 (GRCm39) probably benign Het
Satb1 T C 17: 52,111,364 (GRCm39) T165A probably damaging Het
Scamp1 T C 13: 94,340,658 (GRCm39) Y237C probably damaging Het
Skint10 A T 4: 112,568,753 (GRCm39) F321L probably benign Het
Slc36a2 A G 11: 55,053,466 (GRCm39) probably benign Het
Slc8a1 A G 17: 81,745,188 (GRCm39) V672A probably benign Het
Slitrk6 A T 14: 110,987,364 (GRCm39) L781H probably damaging Het
Sp140l2 T A 1: 85,247,773 (GRCm39) N5Y probably benign Het
Spats2 C A 15: 99,110,168 (GRCm39) P522T possibly damaging Het
Stkld1 A T 2: 26,839,352 (GRCm39) E339D probably benign Het
Tbc1d9 A G 8: 83,960,872 (GRCm39) T241A probably damaging Het
Ticrr A T 7: 79,327,158 (GRCm39) D622V probably damaging Het
Tie1 A G 4: 118,333,477 (GRCm39) probably benign Het
Trak1 G C 9: 121,301,973 (GRCm39) V910L probably damaging Het
Trmt1l T C 1: 151,324,131 (GRCm39) V326A probably benign Het
Tshr A G 12: 91,472,057 (GRCm39) T136A probably damaging Het
Ube3c A G 5: 29,803,936 (GRCm39) T180A possibly damaging Het
Unc13a A C 8: 72,087,302 (GRCm39) F1482V probably damaging Het
Unc79 A G 12: 103,025,777 (GRCm39) E388G probably damaging Het
Ush2a A T 1: 188,697,043 (GRCm39) D5167V probably damaging Het
Vmn2r93 A T 17: 18,546,672 (GRCm39) H848L probably benign Het
Wdfy4 G A 14: 32,884,708 (GRCm39) R65C probably null Het
Zcchc9 T C 13: 91,945,368 (GRCm39) I72V probably benign Het
Zfc3h1 G T 10: 115,259,379 (GRCm39) L1650F possibly damaging Het
Zzz3 A G 3: 152,134,040 (GRCm39) D366G possibly damaging Het
Other mutations in Gps2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0067:Gps2 UTSW 11 69,805,607 (GRCm39) nonsense probably null
R1086:Gps2 UTSW 11 69,806,050 (GRCm39) unclassified probably benign
R1109:Gps2 UTSW 11 69,806,507 (GRCm39) missense possibly damaging 0.94
R1938:Gps2 UTSW 11 69,806,195 (GRCm39) missense probably benign
R1964:Gps2 UTSW 11 69,807,246 (GRCm39) missense probably benign 0.03
R2355:Gps2 UTSW 11 69,806,207 (GRCm39) frame shift probably null
R3773:Gps2 UTSW 11 69,806,927 (GRCm39) missense probably damaging 0.99
R4765:Gps2 UTSW 11 69,807,187 (GRCm39) unclassified probably benign
R4811:Gps2 UTSW 11 69,806,754 (GRCm39) missense probably damaging 0.99
R5119:Gps2 UTSW 11 69,805,617 (GRCm39) missense probably benign 0.00
R5183:Gps2 UTSW 11 69,806,023 (GRCm39) missense probably benign 0.00
R5218:Gps2 UTSW 11 69,807,121 (GRCm39) critical splice donor site probably null
R5965:Gps2 UTSW 11 69,805,620 (GRCm39) missense possibly damaging 0.60
R7172:Gps2 UTSW 11 69,807,262 (GRCm39) missense probably benign 0.40
R7562:Gps2 UTSW 11 69,807,308 (GRCm39) missense probably benign 0.40
R7854:Gps2 UTSW 11 69,806,030 (GRCm39) missense probably damaging 1.00
R8524:Gps2 UTSW 11 69,805,832 (GRCm39) missense probably damaging 0.99
R8713:Gps2 UTSW 11 69,806,180 (GRCm39) missense probably benign 0.01
Z1186:Gps2 UTSW 11 69,807,130 (GRCm39) missense probably benign 0.26
Z1187:Gps2 UTSW 11 69,807,130 (GRCm39) missense probably benign 0.26
Z1188:Gps2 UTSW 11 69,807,130 (GRCm39) missense probably benign 0.26
Z1189:Gps2 UTSW 11 69,807,130 (GRCm39) missense probably benign 0.26
Z1190:Gps2 UTSW 11 69,807,130 (GRCm39) missense probably benign 0.26
Z1191:Gps2 UTSW 11 69,807,130 (GRCm39) missense probably benign 0.26
Z1192:Gps2 UTSW 11 69,807,130 (GRCm39) missense probably benign 0.26
Predicted Primers PCR Primer
(F):5'- GCACCTAATGAAGCCAAGTTCTCCC -3'
(R):5'- CACCTGTGCCACTGCACAATTTTAC -3'

Sequencing Primer
(F):5'- CTCCCTGTGGCTGTGATG -3'
(R):5'- AGAAAAGCTGGTGCTTCTCC -3'
Posted On 2013-07-11