Incidental Mutation 'R3154:Gsc2'
ID 263433
Institutional Source Beutler Lab
Gene Symbol Gsc2
Ensembl Gene ENSMUSG00000022738
Gene Name goosecoid homebox 2
Synonyms 4930568H22Rik, Gscl
MMRRC Submission 040605-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3154 (G1)
Quality Score 182
Status Not validated
Chromosome 16
Chromosomal Location 17730978-17732891 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 17732364 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 137 (R137W)
Ref Sequence ENSEMBL: ENSMUSP00000155932 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003621] [ENSMUST00000012279] [ENSMUST00000232423] [ENSMUST00000232493]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000003621
SMART Domains Protein: ENSMUSP00000003621
Gene: ENSMUSG00000003527

DomainStartEndE-ValueType
low complexity region 7 34 N/A INTRINSIC
Pfam:Es2 37 405 1.9e-76 PFAM
low complexity region 434 455 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000012279
AA Change: R124W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000012279
Gene: ENSMUSG00000022738
AA Change: R124W

DomainStartEndE-ValueType
low complexity region 59 85 N/A INTRINSIC
low complexity region 95 119 N/A INTRINSIC
HOX 136 198 2.9e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000232423
Predicted Effect probably damaging
Transcript: ENSMUST00000232493
AA Change: R137W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Goosecoidlike (GSCL), a homeodomain-containing gene, resides in the critical region for VCFS/DGS on 22q11. Velocardiofacial syndrome (VCFS) is a developmental disorder characterized by conotruncal heart defects, craniofacial anomalies, and learning disabilities. VCFS is phenotypically related to DiGeorge syndrome (DGS) and both syndromes are associated with hemizygous 22q11 deletions. Because many of the tissues and structures affected in VCFS/DGS derive from the pharyngeal arches of the developing embryo, it is believed that haploinsufficiency of a gene involved in embryonic development may be responsible for its etiology. The gene is expressed in a limited number of adult tissues, as well as in early human development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for either one of two independently generated knock-out alleles are viable and fertile with no detectable anatomical or histological abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik A C 2: 152,282,744 (GRCm39) N200H probably damaging Het
Abca17 T A 17: 24,547,720 (GRCm39) D218V probably damaging Het
Ap1b1 T C 11: 4,973,135 (GRCm39) V326A possibly damaging Het
Bdp1 A T 13: 100,186,322 (GRCm39) V1710E probably damaging Het
Chrna3 C T 9: 54,923,334 (GRCm39) C158Y probably damaging Het
Cnnm3 T A 1: 36,560,303 (GRCm39) S608T probably damaging Het
Cnot1 T C 8: 96,470,906 (GRCm39) E1314G possibly damaging Het
Cobll1 A T 2: 64,937,394 (GRCm39) M406K probably benign Het
Cyp2d34 T C 15: 82,501,767 (GRCm39) K248E probably benign Het
Dcdc2a A C 13: 25,286,340 (GRCm39) I125L probably benign Het
Dgat1 G A 15: 76,386,721 (GRCm39) L439F probably benign Het
Disc1 T A 8: 125,862,043 (GRCm39) S472T probably damaging Het
Dnajb3 C A 1: 88,132,773 (GRCm39) V210F probably benign Het
Fancd2 A G 6: 113,570,230 (GRCm39) S1394G possibly damaging Het
Fasn A T 11: 120,698,765 (GRCm39) L2475Q probably damaging Het
Fn1 A T 1: 71,632,242 (GRCm39) C2335S probably damaging Het
Gpld1 T C 13: 25,127,603 (GRCm39) S2P unknown Het
Gpld1 G T 13: 25,140,146 (GRCm39) probably null Het
Gsdme T C 6: 50,228,343 (GRCm39) R42G probably damaging Het
Gtf3c5 T C 2: 28,469,548 (GRCm39) T119A probably damaging Het
Hs6st3 T C 14: 120,106,389 (GRCm39) S266P probably damaging Het
Htr2a T C 14: 74,943,262 (GRCm39) F281L probably benign Het
Hus1b T C 13: 31,131,236 (GRCm39) K141R probably benign Het
Ireb2 T C 9: 54,793,230 (GRCm39) probably null Het
Klhdc7a T A 4: 139,693,024 (GRCm39) Y641F probably benign Het
Kri1 T C 9: 21,193,190 (GRCm39) E57G possibly damaging Het
Map4 A G 9: 109,828,860 (GRCm39) T82A probably benign Het
Mthfr T G 4: 148,136,061 (GRCm39) M353R probably benign Het
Mtus2 A G 5: 148,240,083 (GRCm39) probably benign Het
Muc5ac T A 7: 141,346,473 (GRCm39) probably null Het
Myo15a T A 11: 60,370,186 (GRCm39) probably null Het
Nynrin A T 14: 56,101,044 (GRCm39) Q278L possibly damaging Het
Pced1b T G 15: 97,282,423 (GRCm39) probably null Het
Penk T C 4: 4,134,152 (GRCm39) D165G probably damaging Het
Pfkm T A 15: 98,016,090 (GRCm39) V90D probably damaging Het
Pgk2 T A 17: 40,519,134 (GRCm39) D98V probably damaging Het
Psg28 C A 7: 18,160,348 (GRCm39) A283S possibly damaging Het
Rgl3 A G 9: 21,892,070 (GRCm39) L338P probably damaging Het
Rnf126 A T 10: 79,597,465 (GRCm39) I149N probably damaging Het
Ros1 T C 10: 51,927,077 (GRCm39) H2181R probably benign Het
Slc38a11 C T 2: 65,160,679 (GRCm39) C305Y probably damaging Het
Speg T A 1: 75,378,186 (GRCm39) V798E probably damaging Het
Spesp1 G A 9: 62,189,376 (GRCm39) probably benign Het
Styk1 A T 6: 131,286,975 (GRCm39) Y84* probably null Het
Syt2 T C 1: 134,669,599 (GRCm39) L80P possibly damaging Het
Tra2a C T 6: 49,222,446 (GRCm39) probably benign Het
Trim10 T A 17: 37,182,580 (GRCm39) C149S probably damaging Het
Vmn2r38 T C 7: 9,097,689 (GRCm39) T135A probably benign Het
Wipf1 A G 2: 73,267,834 (GRCm39) V188A possibly damaging Het
Yipf2 G A 9: 21,501,197 (GRCm39) A67V probably benign Het
Zfp759 A G 13: 67,286,719 (GRCm39) E96G probably benign Het
Zic3 G A X: 57,076,838 (GRCm39) V100M possibly damaging Het
Other mutations in Gsc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3035:Gsc2 UTSW 16 17,732,792 (GRCm39) missense probably damaging 0.99
R3153:Gsc2 UTSW 16 17,732,364 (GRCm39) missense probably damaging 1.00
R4154:Gsc2 UTSW 16 17,732,666 (GRCm39) small deletion probably benign
R6182:Gsc2 UTSW 16 17,731,483 (GRCm39) makesense probably null
R6962:Gsc2 UTSW 16 17,732,902 (GRCm39) missense possibly damaging 0.96
Predicted Primers PCR Primer
(F):5'- AGTTGAAGCCCCTTCTGGAAG -3'
(R):5'- ATCGAGCACATCCTCTCCAG -3'

Sequencing Primer
(F):5'- TCTTTGAAAAATAAGAGTGGCGCC -3'
(R):5'- CAAGACTAGGCGGGGATCTC -3'
Posted On 2015-02-05