Incidental Mutation 'R5965:Gps2'
ID 472041
Institutional Source Beutler Lab
Gene Symbol Gps2
Ensembl Gene ENSMUSG00000023170
Gene Name G protein pathway suppressor 2
Synonyms
MMRRC Submission 044150-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.891) question?
Stock # R5965 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 69804714-69807417 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69805620 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 46 (E46G)
Ref Sequence ENSEMBL: ENSMUSP00000112062 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043419] [ENSMUST00000057884] [ENSMUST00000061837] [ENSMUST00000070996] [ENSMUST00000071026] [ENSMUST00000072581] [ENSMUST00000108607] [ENSMUST00000116358] [ENSMUST00000134581] [ENSMUST00000108613] [ENSMUST00000133203] [ENSMUST00000108608] [ENSMUST00000108611] [ENSMUST00000108612] [ENSMUST00000152589] [ENSMUST00000108617] [ENSMUST00000108609] [ENSMUST00000108610] [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 possibly damaging
Transcript: ENSMUST00000057884
AA Change: E46G

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000054072
Gene: ENSMUSG00000023170
AA Change: E46G

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 possibly damaging
Transcript: ENSMUST00000072581
AA Change: E46G

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000072389
Gene: ENSMUSG00000023170
AA Change: E46G

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 possibly damaging
Transcript: ENSMUST00000116358
AA Change: E46G

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000112062
Gene: ENSMUSG00000023170
AA Change: E46G

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: 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: 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: 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: 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: 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 noncoding transcript
Transcript: ENSMUST00000175761
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
Meta Mutation Damage Score 0.1011 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.1%
Validation Efficiency 98% (80/82)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf3 T A 5: 30,410,637 (GRCm39) T23S probably benign Het
Armc2 A G 10: 41,798,568 (GRCm39) I747T possibly damaging Het
Cacna1c T A 6: 118,579,261 (GRCm39) H1729L probably damaging Het
Crebbp A G 16: 3,905,525 (GRCm39) probably benign Het
Cyp4f17 T A 17: 32,743,611 (GRCm39) M326K probably damaging Het
Dchs1 T G 7: 105,405,132 (GRCm39) D2470A probably damaging Het
Ddhd2 T C 8: 26,225,804 (GRCm39) T518A probably damaging Het
Derl2 T C 11: 70,905,378 (GRCm39) T109A probably benign Het
Dnah7b T C 1: 46,402,147 (GRCm39) L3994P probably damaging Het
Dock10 T C 1: 80,546,461 (GRCm39) probably null Het
Dync1h1 T A 12: 110,599,212 (GRCm39) S1856T probably benign Het
Ehd2 T C 7: 15,685,999 (GRCm39) K358E possibly damaging Het
Enpp2 A G 15: 54,746,367 (GRCm39) probably null Het
Esco1 T C 18: 10,593,867 (GRCm39) E473G possibly damaging Het
Exoc5 A G 14: 49,272,388 (GRCm39) F342S probably damaging Het
Fam186a T A 15: 99,842,978 (GRCm39) T1089S probably benign Het
Fanca T C 8: 124,043,149 (GRCm39) D79G possibly damaging Het
Gabrb2 A G 11: 42,517,696 (GRCm39) Y506C probably damaging Het
Galntl6 T C 8: 58,310,565 (GRCm39) T379A probably benign Het
Garin2 T A 12: 78,757,080 (GRCm39) N12K unknown Het
Gm34768 A G 2: 11,913,316 (GRCm39) noncoding transcript Het
Gsdmc T C 15: 63,676,447 (GRCm39) probably null Het
Gys1 C T 7: 45,104,763 (GRCm39) T666I probably benign Het
Hsd17b11 T A 5: 104,169,651 (GRCm39) probably benign Het
Iffo1 T A 6: 125,129,471 (GRCm39) probably benign Het
Ighv1-51 T C 12: 115,095,177 (GRCm39) noncoding transcript Het
Kansl3 T A 1: 36,384,601 (GRCm39) probably null Het
Kdm3a A G 6: 71,598,364 (GRCm39) I174T probably benign Het
Klhl26 A T 8: 70,905,381 (GRCm39) D95E probably damaging Het
Lair1 T C 7: 4,032,023 (GRCm39) D28G possibly damaging Het
Lama3 A G 18: 12,562,944 (GRCm39) D489G possibly damaging Het
Lamb3 A T 1: 193,025,768 (GRCm39) I1153F probably damaging Het
Lsp1 T A 7: 142,044,161 (GRCm39) probably null Het
Man1a A G 10: 53,809,586 (GRCm39) probably benign Het
Mcam A C 9: 44,047,925 (GRCm39) S57R probably damaging Het
Mrgprf C A 7: 144,861,168 (GRCm39) probably benign Het
Nfia T C 4: 97,999,529 (GRCm39) *499Q probably null Het
Nmbr C A 10: 14,642,554 (GRCm39) R38S probably benign Het
Or12e7 T G 2: 87,288,381 (GRCm39) F291V probably benign Het
Or51a25 C A 7: 102,373,467 (GRCm39) V77L probably benign Het
Or5h23 T C 16: 58,906,666 (GRCm39) Y60C probably damaging Het
P3h1 C T 4: 119,105,424 (GRCm39) H741Y probably benign Het
Parp4 A T 14: 56,861,489 (GRCm39) M941L probably benign Het
Phaf1 T C 8: 105,961,171 (GRCm39) F69L probably damaging Het
Pik3c3 C T 18: 30,431,633 (GRCm39) T331M probably damaging Het
Prkg1 T C 19: 30,701,556 (GRCm39) probably null Het
Qsox2 A T 2: 26,112,233 (GRCm39) V103D probably benign Het
Ranbp1 T C 16: 18,063,092 (GRCm39) T95A probably damaging Het
Ric1 G A 19: 29,548,171 (GRCm39) D280N probably damaging Het
Scd1 A G 19: 44,388,579 (GRCm39) probably null Het
Serpinb3c A G 1: 107,204,653 (GRCm39) I31T probably benign Het
Slc7a11 T A 3: 50,333,593 (GRCm39) Y386F probably benign Het
Smtnl2 A T 11: 72,291,279 (GRCm39) probably null Het
Snx2 G T 18: 53,327,534 (GRCm39) E87* probably null Het
Tars2 A C 3: 95,655,464 (GRCm39) probably null Het
Tax1bp1 C A 6: 52,706,317 (GRCm39) T106N probably damaging Het
Tcof1 A G 18: 60,966,490 (GRCm39) probably null Het
Tenm3 C A 8: 48,681,543 (GRCm39) E2680* probably null Het
Thap7 C T 16: 17,348,611 (GRCm39) probably benign Het
Thoc6 T A 17: 23,889,842 (GRCm39) I23F possibly damaging Het
Tmem185b T G 1: 119,454,294 (GRCm39) Y18* probably null Het
Trav6-1 A C 14: 52,876,254 (GRCm39) Y58S probably damaging Het
Trbv16 A T 6: 41,128,989 (GRCm39) I58F probably benign Het
Ubtfl1 T A 9: 18,320,838 (GRCm39) M122K probably benign Het
Vps13a T C 19: 16,596,392 (GRCm39) probably null Het
Zdhhc24 T G 19: 4,933,778 (GRCm39) D278E probably benign Het
Zfp316 T C 5: 143,250,427 (GRCm39) probably null Het
Zfyve9 T C 4: 108,548,878 (GRCm39) T769A possibly damaging Het
Znhit6 T A 3: 145,284,103 (GRCm39) N96K possibly damaging 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
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'- AGTTCCAGACCAGAACCCTG -3'
(R):5'- GCTGCAAGAAAAGCTGGTGC -3'

Sequencing Primer
(F):5'- CTGGGCTGGGAAGGACCTTG -3'
(R):5'- GTGCTTCTCCTCCTGTAGAGCAG -3'
Posted On 2017-03-31