Incidental Mutation 'R7562:Gps2'
ID 585204
Institutional Source Beutler Lab
Gene Symbol Gps2
Ensembl Gene ENSMUSG00000023170
Gene Name G protein pathway suppressor 2
Synonyms
MMRRC Submission 045627-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.891) question?
Stock # R7562 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 69804714-69807417 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 69807308 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 321 (N321K)
Ref Sequence ENSEMBL: ENSMUSP00000054072 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043419] [ENSMUST00000057884] [ENSMUST00000061837] [ENSMUST00000070996] [ENSMUST00000071026] [ENSMUST00000072581] [ENSMUST00000108607] [ENSMUST00000108608] [ENSMUST00000108609] [ENSMUST00000108610] [ENSMUST00000108611] [ENSMUST00000108612] [ENSMUST00000108613] [ENSMUST00000108617] [ENSMUST00000116358] [ENSMUST00000133203] [ENSMUST00000134581] [ENSMUST00000152589] [ENSMUST00000153652] [ENSMUST00000164359] [ENSMUST00000177138] [ENSMUST00000177476]
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 benign
Transcript: ENSMUST00000057884
AA Change: N321K

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000054072
Gene: ENSMUSG00000023170
AA Change: N321K

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 benign
Transcript: ENSMUST00000072581
AA Change: N321K

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000072389
Gene: ENSMUSG00000023170
AA Change: N321K

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 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: 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: 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: 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: 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 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: ENSMUST00000116358
AA Change: N321K

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000112062
Gene: ENSMUSG00000023170
AA Change: N321K

DomainStartEndE-ValueType
SCOP:d1jjva_ 22 83 9e-3 SMART
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: 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: ENSMUST00000134581
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: 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
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: 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 C T 5: 36,030,563 (GRCm39) T544M probably benign Het
Adamts12 A G 15: 11,270,697 (GRCm39) R651G probably benign Het
Adck1 G A 12: 88,335,203 (GRCm39) D30N possibly damaging Het
Alcam T A 16: 52,089,186 (GRCm39) I505F probably benign Het
Alms1 T C 6: 85,597,394 (GRCm39) L740P probably damaging Het
Ankib1 C T 5: 3,797,021 (GRCm39) D264N probably null Het
Arid2 T G 15: 96,299,849 (GRCm39) H1787Q probably damaging Het
Asf1a C T 10: 53,482,283 (GRCm39) R102* probably null Het
Atp2b1 C A 10: 98,858,667 (GRCm39) probably null Het
Bdp1 T C 13: 100,162,049 (GRCm39) D2291G probably benign Het
Bnip5 T C 17: 29,128,778 (GRCm39) D45G probably benign Het
Brinp3 C G 1: 146,777,748 (GRCm39) L732V possibly damaging Het
Catsperg2 A G 7: 29,397,144 (GRCm39) F1120L probably benign Het
Ccdc80 C T 16: 44,943,266 (GRCm39) A792V probably damaging Het
Cdcp3 T A 7: 130,904,426 (GRCm39) D2381E unknown Het
Cenpe C T 3: 134,954,395 (GRCm39) R1751W probably damaging Het
Cenpm T C 15: 82,125,562 (GRCm39) I66V probably benign Het
Clcn4 A G 7: 7,298,081 (GRCm39) W103R possibly damaging Het
Cntn2 T C 1: 132,454,055 (GRCm39) D317G possibly damaging Het
Cwf19l1 G A 19: 44,117,680 (GRCm39) T154M probably damaging Het
Cyp2a4 T A 7: 26,012,321 (GRCm39) M368K possibly damaging Het
Dars1 A G 1: 128,294,763 (GRCm39) S413P possibly damaging Het
Dscc1 A G 15: 54,947,581 (GRCm39) Y200H probably benign Het
Dsn1 A T 2: 156,842,792 (GRCm39) D183E probably damaging Het
Etfdh T C 3: 79,530,886 (GRCm39) Y45C probably damaging Het
Fancc A T 13: 63,550,867 (GRCm39) probably null Het
Fbxo34 T A 14: 47,767,135 (GRCm39) M216K probably benign Het
Fer1l6 T G 15: 58,432,331 (GRCm39) S293A probably benign Het
Foxn1 T A 11: 78,261,958 (GRCm39) E137V probably damaging Het
Fshr A C 17: 89,295,925 (GRCm39) F261V probably damaging Het
Gabrb3 C T 7: 57,461,926 (GRCm39) R153* probably null Het
Garin1b T C 6: 29,323,833 (GRCm39) V186A probably damaging Het
Hdgf T C 3: 87,813,993 (GRCm39) M20T possibly damaging Het
Igdcc4 G T 9: 65,031,306 (GRCm39) A415S probably damaging Het
Kif26b A G 1: 178,742,541 (GRCm39) E879G probably damaging Het
Krt13 T C 11: 100,010,162 (GRCm39) Y273C probably damaging Het
Mab21l4 C A 1: 93,087,689 (GRCm39) V55F probably damaging Het
Mag A G 7: 30,608,559 (GRCm39) V185A possibly damaging Het
Map3k21 C T 8: 126,665,539 (GRCm39) T576M probably damaging Het
Mtcl2 A C 2: 156,895,509 (GRCm39) L332R probably damaging Het
Mtrr A G 13: 68,714,336 (GRCm39) F468L probably damaging Het
Myb C T 10: 21,017,653 (GRCm39) probably null Het
Naip5 T C 13: 100,356,204 (GRCm39) Q1137R probably benign Het
Naip5 G T 13: 100,356,205 (GRCm39) Q1137K not run Het
Nckap5l A T 15: 99,321,166 (GRCm39) probably null Het
Nop9 C T 14: 55,986,809 (GRCm39) R240W probably benign Het
Notch2 T C 3: 98,020,430 (GRCm39) L775P probably damaging Het
Or13a27 T C 7: 139,925,143 (GRCm39) Y253C probably damaging Het
Or4c116 C T 2: 88,942,629 (GRCm39) V76I probably benign Het
Or55b10 T A 7: 102,143,227 (GRCm39) I252F possibly damaging Het
Or7a40 T C 16: 16,491,579 (GRCm39) N89D probably benign Het
Or8c9 A G 9: 38,241,239 (GRCm39) T116A probably damaging Het
Oxa1l T A 14: 54,600,934 (GRCm39) W136R probably damaging Het
Palm3 T A 8: 84,748,136 (GRCm39) V7E possibly damaging Het
Pkhd1l1 C G 15: 44,378,326 (GRCm39) R1027G possibly damaging Het
Prickle2 A T 6: 92,352,929 (GRCm39) *902K probably null Het
Rassf7 C T 7: 140,797,101 (GRCm39) R105* probably null Het
Septin9 T C 11: 117,217,337 (GRCm39) probably null Het
Sorbs3 T C 14: 70,444,976 (GRCm39) N34S probably benign Het
Sos2 T C 12: 69,682,412 (GRCm39) T269A probably benign Het
Spata20 T G 11: 94,373,379 (GRCm39) K497N probably benign Het
Speg A G 1: 75,407,923 (GRCm39) D3206G probably damaging Het
Tenm4 A G 7: 96,538,021 (GRCm39) T1865A probably damaging Het
Tmc5 A T 7: 118,222,549 (GRCm39) Y83F probably benign Het
Tmem175 T A 5: 108,789,715 (GRCm39) D103E probably damaging Het
Top2b A C 14: 16,412,946 (GRCm38) M952L probably benign Het
Vmn2r6 T C 3: 64,463,941 (GRCm39) I298V probably benign Het
Vmn2r69 T C 7: 85,056,420 (GRCm39) I573V probably benign Het
Vmn2r93 A G 17: 18,518,731 (GRCm39) I63M probably benign Het
Zfp568 G A 7: 29,722,681 (GRCm39) R542H probably benign Het
Other mutations in Gps2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0067:Gps2 UTSW 11 69,805,607 (GRCm39) nonsense probably null
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
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'- GCTTCCCGTACAGATACAAGC -3'
(R):5'- CTGAGACTTCATAGTAGCCTTTGTGG -3'

Sequencing Primer
(F):5'- GGTAAGGCTGGCAATCAAACCTAC -3'
(R):5'- GTTTAGGCAGTTGGATAGGAAGC -3'
Posted On 2019-10-17