Incidental Mutation 'R7504:Gsx2'
ID 585916
Institutional Source Beutler Lab
Gene Symbol Gsx2
Ensembl Gene ENSMUSG00000035946
Gene Name GS homeobox 2
Synonyms Gsh-2, Gsh2
MMRRC Submission 045577-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7504 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 75075601-75077893 bp(+) (GRCm38)
Type of Mutation splice site (276 bp from exon)
DNA Base Change (assembly) G to A at 75076399 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123712 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040477] [ENSMUST00000160104]
AlphaFold P31316
Predicted Effect probably null
Transcript: ENSMUST00000040477
SMART Domains Protein: ENSMUSP00000036625
Gene: ENSMUSG00000035946

low complexity region 76 101 N/A INTRINSIC
low complexity region 124 172 N/A INTRINSIC
HOX 203 265 9.33e-27 SMART
Predicted Effect probably null
Transcript: ENSMUST00000160104
SMART Domains Protein: ENSMUSP00000123712
Gene: ENSMUSG00000035946

low complexity region 76 101 N/A INTRINSIC
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (43/43)
MGI Phenotype PHENOTYPE: Mice homozygous for a targeted null mutation die within 24 hrs after birth, displaying an early misspecification of precursors in the lateral ganglionic eminence that leads to disruptions in striatal and olfactory bulb development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012H06Rik C G 17: 14,943,653 (GRCm38) A14G probably damaging Het
6430573F11Rik A C 8: 36,512,155 (GRCm38) N304T probably benign Het
Btn1a1 A T 13: 23,461,716 (GRCm38) M161K probably benign Het
Camkk2 G A 5: 122,746,308 (GRCm38) T350I probably damaging Het
Cdc42bpg C A 19: 6,306,784 (GRCm38) D23E possibly damaging Het
Cdkn1a T C 17: 29,098,514 (GRCm38) L36P probably damaging Het
Dek A G 13: 47,088,035 (GRCm38) I351T probably damaging Het
Dst T C 1: 34,201,017 (GRCm38) Y1816H probably damaging Het
Efl1 T A 7: 82,683,049 (GRCm38) N300K probably damaging Het
Ephx2 A G 14: 66,101,617 (GRCm38) Y294H probably damaging Het
Fancd2 T A 6: 113,545,038 (GRCm38) I198N probably damaging Het
Gm6502 G T 5: 94,317,047 (GRCm38) V431L probably benign Het
Grid1 G T 14: 35,562,513 (GRCm38) A738S probably damaging Het
Hc G A 2: 35,061,319 (GRCm38) T22I not run Het
Hps1 T C 19: 42,766,720 (GRCm38) D261G probably benign Het
Ift80 T C 3: 68,918,005 (GRCm38) Y539C probably damaging Het
Insc G T 7: 114,791,298 (GRCm38) probably null Het
Isg15 T C 4: 156,200,045 (GRCm38) M9V probably damaging Het
Kalrn A G 16: 34,256,233 (GRCm38) L695P unknown Het
Nars A C 18: 64,512,022 (GRCm38) F52V probably benign Het
Nmt1 T G 11: 103,056,459 (GRCm38) F225V probably damaging Het
Olfr1352 A G 10: 78,984,660 (GRCm38) Y290C possibly damaging Het
Olfr143 A T 9: 38,254,243 (GRCm38) K272N possibly damaging Het
Olfr1495 T A 19: 13,768,732 (GRCm38) I130N probably damaging Het
Pbx3 T C 2: 34,175,924 (GRCm38) T385A probably damaging Het
Pcdhb11 A T 18: 37,421,799 (GRCm38) T61S probably benign Het
Rab11fip1 T C 8: 27,152,953 (GRCm38) E606G possibly damaging Het
Rnf216 A G 5: 143,075,759 (GRCm38) Y589H probably benign Het
Scara3 A G 14: 65,931,331 (GRCm38) I279T possibly damaging Het
Sdk2 T A 11: 113,867,967 (GRCm38) Y477F possibly damaging Het
Secisbp2l T C 2: 125,758,171 (GRCm38) K415E probably benign Het
Stag1 C T 9: 100,888,328 (GRCm38) T639I probably benign Het
Sv2b A T 7: 75,136,383 (GRCm38) F430I probably benign Het
Tenm2 C T 11: 36,139,743 (GRCm38) C743Y probably damaging Het
Tet2 C A 3: 133,487,339 (GRCm38) V445L probably benign Het
Tmem132c T C 5: 127,554,632 (GRCm38) S652P probably damaging Het
Togaram1 A G 12: 64,992,617 (GRCm38) D1155G possibly damaging Het
Traip T C 9: 107,961,544 (GRCm38) I169T probably benign Het
Usp45 T G 4: 21,816,892 (GRCm38) M374R possibly damaging Het
Vmn2r81 A T 10: 79,268,332 (GRCm38) H263L probably benign Het
Wdr95 T C 5: 149,581,846 (GRCm38) V364A probably damaging Het
Zfp128 G A 7: 12,890,478 (GRCm38) D258N probably damaging Het
Zfp335 G A 2: 164,909,418 (GRCm38) T76I probably benign Het
Zfp688 C A 7: 127,419,311 (GRCm38) C214F probably damaging Het
Zfp760 T C 17: 21,722,674 (GRCm38) S277P probably damaging Het
Other mutations in Gsx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01152:Gsx2 APN 5 75,075,791 (GRCm38) missense probably damaging 1.00
R0018:Gsx2 UTSW 5 75,077,167 (GRCm38) missense probably damaging 1.00
R0018:Gsx2 UTSW 5 75,077,167 (GRCm38) missense probably damaging 1.00
R0265:Gsx2 UTSW 5 75,077,068 (GRCm38) missense probably damaging 1.00
R0496:Gsx2 UTSW 5 75,077,065 (GRCm38) missense probably benign 0.26
R1017:Gsx2 UTSW 5 75,077,262 (GRCm38) missense probably damaging 1.00
R2372:Gsx2 UTSW 5 75,077,052 (GRCm38) missense probably damaging 1.00
R7226:Gsx2 UTSW 5 75,075,960 (GRCm38) nonsense probably null
R7362:Gsx2 UTSW 5 75,076,104 (GRCm38) missense possibly damaging 0.92
R8153:Gsx2 UTSW 5 75,077,055 (GRCm38) missense probably damaging 1.00
R8725:Gsx2 UTSW 5 75,076,094 (GRCm38) missense probably benign 0.00
R8852:Gsx2 UTSW 5 75,076,335 (GRCm38) missense possibly damaging 0.81
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-10-18