Incidental Mutation 'R6182:Gsc2'
ID 487058
Institutional Source Beutler Lab
Gene Symbol Gsc2
Ensembl Gene ENSMUSG00000022738
Gene Name goosecoid homebox 2
Synonyms 4930568H22Rik, Gscl
MMRRC Submission 044324-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6182 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 17730978-17732891 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) A to G at 17731483 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Arginine at position 215 (*215R)
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 null
Transcript: ENSMUST00000012279
AA Change: *202R
SMART Domains Protein: ENSMUSP00000012279
Gene: ENSMUSG00000022738
AA Change: *202R

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 null
Transcript: ENSMUST00000232493
AA Change: *215R
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.4%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 T C 9: 90,074,489 (GRCm39) S884P probably benign Het
Akap13 C A 7: 75,236,028 (GRCm39) A201E probably benign Het
Ces1f T G 8: 93,983,124 (GRCm39) E540A probably benign Het
Chid1 T A 7: 141,108,415 (GRCm39) M137L probably benign Het
Chsy3 A G 18: 59,312,414 (GRCm39) T296A probably benign Het
Clec4f A G 6: 83,622,284 (GRCm39) V519A probably benign Het
Clk4 T A 11: 51,159,009 (GRCm39) F41I possibly damaging Het
Cntnap5c A G 17: 58,183,390 (GRCm39) D32G probably benign Het
Ctsl T C 13: 64,515,786 (GRCm39) Y95C probably damaging Het
Cyp2c54 T C 19: 40,036,005 (GRCm39) M302V probably benign Het
Cyp2c65 C G 19: 39,049,606 (GRCm39) L45V probably benign Het
Cyp2j6 G C 4: 96,424,323 (GRCm39) L145V probably damaging Het
Daam1 C T 12: 72,006,661 (GRCm39) Q693* probably null Het
Dgcr8 A T 16: 18,098,172 (GRCm39) D406E probably benign Het
Dock2 G T 11: 34,179,476 (GRCm39) P1760Q probably damaging Het
Epb41l2 G A 10: 25,383,715 (GRCm39) R940H probably damaging Het
Erc2 A C 14: 28,039,210 (GRCm39) D951A probably damaging Het
Fbxw7 T C 3: 84,723,078 (GRCm39) probably null Het
Frem2 T A 3: 53,555,390 (GRCm39) I1716F probably damaging Het
Fus A G 7: 127,576,465 (GRCm39) D295G probably damaging Het
Gm5093 A G 17: 46,750,568 (GRCm39) I153T probably benign Het
Gnptab T C 10: 88,265,342 (GRCm39) V318A possibly damaging Het
Gpc2 T C 5: 138,276,676 (GRCm39) D150G probably benign Het
Hectd3 T C 4: 116,857,476 (GRCm39) S552P probably damaging Het
Katnal1 C A 5: 148,841,407 (GRCm39) K152N possibly damaging Het
Kcnh1 A T 1: 191,873,361 (GRCm39) T16S probably damaging Het
Lrrc71 T C 3: 87,653,101 (GRCm39) D105G probably benign Het
Mon2 T C 10: 122,874,564 (GRCm39) probably null Het
Mroh9 G A 1: 162,893,612 (GRCm39) Q188* probably null Het
Mtmr14 A G 6: 113,246,469 (GRCm39) S81G possibly damaging Het
Nrap T A 19: 56,350,130 (GRCm39) M628L probably benign Het
Odad3 A G 9: 21,901,698 (GRCm39) F553S probably damaging Het
Or1o1 T A 17: 37,716,883 (GRCm39) I148K possibly damaging Het
Or5k1 A G 16: 58,617,655 (GRCm39) Y185H probably damaging Het
Pals2 A G 6: 50,175,206 (GRCm39) I506V probably benign Het
Pate4 A T 9: 35,519,586 (GRCm39) S35T possibly damaging Het
Pkd1l1 T C 11: 8,815,555 (GRCm39) E1452G probably benign Het
Pld5 T C 1: 175,872,420 (GRCm39) D239G probably benign Het
Ppef2 C T 5: 92,374,925 (GRCm39) V728M probably damaging Het
Rasip1 TGCCGCCGCCGCCGCCGCCGCCGC TGCCGCCGCCGCCGCCGCCGC 7: 45,277,879 (GRCm39) probably benign Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Serpina3c C A 12: 104,115,690 (GRCm39) V285L probably benign Het
Serpinb9f T C 13: 33,518,405 (GRCm39) S302P probably damaging Het
Sis C T 3: 72,811,626 (GRCm39) V1642I probably benign Het
Slc12a4 G A 8: 106,674,531 (GRCm39) L601F probably damaging Het
Slc39a6 G T 18: 24,734,013 (GRCm39) N225K probably benign Het
Snrnp70 G A 7: 45,026,497 (GRCm39) R291* probably null Het
Spin1 C T 13: 51,298,374 (GRCm39) T131I probably benign Het
St18 T G 1: 6,914,342 (GRCm39) probably null Het
Stox1 A G 10: 62,500,721 (GRCm39) L613P probably damaging Het
Tgm3 T G 2: 129,867,221 (GRCm39) Y155* probably null Het
Tmem67 T C 4: 12,051,402 (GRCm39) I809V probably benign Het
Tnc T A 4: 63,927,033 (GRCm39) D831V probably damaging Het
Ttll13 A T 7: 79,909,981 (GRCm39) E762D probably benign Het
Unc5b A T 10: 60,601,015 (GRCm39) V937E probably damaging Het
Vmn1r34 A G 6: 66,614,312 (GRCm39) I142T probably damaging Het
Vmn2r104 A G 17: 20,250,507 (GRCm39) M588T probably benign Het
Vmn2r77 T C 7: 86,460,957 (GRCm39) V761A probably damaging Het
Wdr48 G T 9: 119,753,832 (GRCm39) G665W probably damaging Het
Xpot T A 10: 121,442,163 (GRCm39) R550S probably damaging Het
Ydjc A G 16: 16,964,943 (GRCm39) T33A probably benign Het
Zfc3h1 A G 10: 115,226,764 (GRCm39) T274A probably benign Het
Zfp202 G A 9: 40,118,638 (GRCm39) G17E probably damaging Het
Zfp788 T A 7: 41,299,940 (GRCm39) C859S probably damaging Het
Zscan4c T C 7: 10,740,709 (GRCm39) M76T probably benign 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
R3154:Gsc2 UTSW 16 17,732,364 (GRCm39) missense probably damaging 1.00
R4154:Gsc2 UTSW 16 17,732,666 (GRCm39) small deletion probably benign
R6962:Gsc2 UTSW 16 17,732,902 (GRCm39) missense possibly damaging 0.96
Predicted Primers PCR Primer
(F):5'- TGTGTCTGCACTTGACCTGC -3'
(R):5'- GGTTGCAGATCCATTCACCTAC -3'

Sequencing Primer
(F):5'- TGCACTTGACCTGCAGGAG -3'
(R):5'- TCCATTGAAGCCTACCACCTAG -3'
Posted On 2017-10-10