Incidental Mutation 'R5875:Gata2'
ID 455464
Institutional Source Beutler Lab
Gene Symbol Gata2
Ensembl Gene ENSMUSG00000015053
Gene Name GATA binding protein 2
Synonyms Gata-2
MMRRC Submission 044082-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5875 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 88170873-88184014 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88179473 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 315 (L315P)
Ref Sequence ENSEMBL: ENSMUSP00000128198 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015197] [ENSMUST00000170089] [ENSMUST00000203480]
AlphaFold O09100
Predicted Effect probably damaging
Transcript: ENSMUST00000015197
AA Change: L315P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000015197
Gene: ENSMUSG00000015053
AA Change: L315P

DomainStartEndE-ValueType
low complexity region 103 114 N/A INTRINSIC
low complexity region 143 158 N/A INTRINSIC
low complexity region 182 201 N/A INTRINSIC
ZnF_GATA 289 339 2.37e-19 SMART
ZnF_GATA 343 393 1.26e-23 SMART
low complexity region 399 409 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000170089
AA Change: L315P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128198
Gene: ENSMUSG00000015053
AA Change: L315P

DomainStartEndE-ValueType
low complexity region 103 114 N/A INTRINSIC
low complexity region 143 158 N/A INTRINSIC
low complexity region 182 201 N/A INTRINSIC
ZnF_GATA 289 339 2.37e-19 SMART
ZnF_GATA 343 393 1.26e-23 SMART
low complexity region 399 409 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000203480
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203579
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205151
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.4%
  • 20x: 91.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the GATA family of zinc-finger transcription factors that are named for the consensus nucleotide sequence they bind in the promoter regions of target genes. The encoded protein plays an essential role in regulating transcription of genes involved in the development and proliferation of hematopoietic and endocrine cell lineages. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]
PHENOTYPE: Homozygous mutant show reduced placental secretion of angiogenic factors, hematopoietic defects, enlarged pericardial sacs, reduced numbers of V2-expressing interneurons of ventral spinal cord, and die by embryonic day 11.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810024B03Rik A G 2: 127,028,737 (GRCm39) V154A possibly damaging Het
Abcc1 A G 16: 14,284,901 (GRCm39) E1250G possibly damaging Het
Ajap1 A C 4: 153,516,798 (GRCm39) I181R probably damaging Het
Akap9 A G 5: 4,127,285 (GRCm39) Y3711C probably benign Het
Ark2c T C 18: 77,650,877 (GRCm39) probably benign Het
Arl1 T C 10: 88,577,841 (GRCm39) S137P probably benign Het
Atp6v0a2 G A 5: 124,793,391 (GRCm39) V583I probably benign Het
Cdca7 T A 2: 72,313,901 (GRCm39) M230K probably benign Het
Chd9 A T 8: 91,778,464 (GRCm39) D2841V probably damaging Het
Chp1 T A 2: 119,402,296 (GRCm39) F90Y probably damaging Het
Ckap5 A G 2: 91,391,206 (GRCm39) T345A probably benign Het
Clca4b A C 3: 144,628,650 (GRCm39) S352R probably benign Het
Cmya5 A G 13: 93,231,692 (GRCm39) V1132A probably benign Het
Crb2 T A 2: 37,677,266 (GRCm39) probably null Het
Crhbp A G 13: 95,580,304 (GRCm39) F99L probably benign Het
Dnmt3l A T 10: 77,889,772 (GRCm39) M210L probably benign Het
Dyrk2 T A 10: 118,696,602 (GRCm39) R219W probably damaging Het
Exosc1 A G 19: 41,916,542 (GRCm39) I78T probably damaging Het
Exosc9 T C 3: 36,615,342 (GRCm39) probably null Het
Frmd5 A G 2: 121,388,959 (GRCm39) probably benign Het
Gm17067 G A 7: 42,357,470 (GRCm39) T344I probably benign Het
Gm4884 A T 7: 40,692,360 (GRCm39) T110S possibly damaging Het
Hapln3 T C 7: 78,771,721 (GRCm39) E56G probably benign Het
Helq A C 5: 100,944,336 (GRCm39) I258S probably damaging Het
Hoxd10 T C 2: 74,522,426 (GRCm39) Y35H possibly damaging Het
Inpp5b T C 4: 124,674,199 (GRCm39) V302A possibly damaging Het
Inpp5d T A 1: 87,645,696 (GRCm39) I1027N possibly damaging Het
Ints2 T C 11: 86,129,138 (GRCm39) S482G probably benign Het
Itih1 C T 14: 30,651,487 (GRCm39) V902I probably benign Het
Jkampl T C 6: 73,446,028 (GRCm39) I174V possibly damaging Het
Kctd16 T A 18: 40,390,447 (GRCm39) probably benign Het
Kif27 T C 13: 58,458,918 (GRCm39) N971S probably benign Het
Klra17 T C 6: 129,851,791 (GRCm39) D27G probably benign Het
Leo1 G C 9: 75,357,842 (GRCm39) R412S probably damaging Het
Lonrf2 T C 1: 38,846,128 (GRCm39) N348S probably benign Het
Lpp G A 16: 24,427,059 (GRCm39) G62E probably benign Het
Lyn G A 4: 3,745,631 (GRCm39) probably null Het
Macf1 T A 4: 123,326,107 (GRCm39) N5128I possibly damaging Het
Mapk7 T A 11: 61,384,524 (GRCm39) I61L probably benign Het
Mindy1 T C 3: 95,202,125 (GRCm39) V334A probably damaging Het
Muc20 G A 16: 32,614,189 (GRCm39) T396I possibly damaging Het
Myo5b A T 18: 74,840,973 (GRCm39) probably null Het
Noc4l A C 5: 110,799,176 (GRCm39) probably null Het
Oas1c A G 5: 120,943,627 (GRCm39) Y171H probably damaging Het
Pclo A T 5: 14,730,614 (GRCm39) probably benign Het
Pmpcb G A 5: 21,947,944 (GRCm39) E216K probably benign Het
Pskh1 G A 8: 106,639,731 (GRCm39) R137Q possibly damaging Het
Ptprb T G 10: 116,184,071 (GRCm39) W1628G probably benign Het
Ranbp3 T A 17: 57,014,955 (GRCm39) probably null Het
Sart1 T C 19: 5,433,823 (GRCm39) D338G probably damaging Het
Scn8a T A 15: 100,870,703 (GRCm39) Y251* probably null Het
Sdk2 G T 11: 113,720,885 (GRCm39) T1348K probably benign Het
Sec16a A G 2: 26,323,379 (GRCm39) Y1272H probably damaging Het
Slc26a1 A T 5: 108,819,903 (GRCm39) L432Q probably damaging Het
Susd1 A T 4: 59,412,203 (GRCm39) F117I possibly damaging Het
Taf5 A T 19: 47,064,549 (GRCm39) Y465F probably damaging Het
Tcstv1a T A 13: 120,355,630 (GRCm39) M1L probably benign Het
Tectb A G 19: 55,178,058 (GRCm39) D193G possibly damaging Het
Tex56 T G 13: 35,116,429 (GRCm39) C59W probably damaging Het
Tirap G A 9: 35,100,465 (GRCm39) P73L probably damaging Het
Tm6sf2 A G 8: 70,528,039 (GRCm39) D86G possibly damaging Het
Tmem161b A T 13: 84,442,977 (GRCm39) H481L probably damaging Het
Tnrc6c G A 11: 117,650,534 (GRCm39) V1763I probably damaging Het
Ubxn1 T C 19: 8,849,584 (GRCm39) S75P probably benign Het
Uhrf2 A G 19: 30,066,702 (GRCm39) K709E probably damaging Het
Vmn2r101 T A 17: 19,809,092 (GRCm39) Y74N probably damaging Het
Xirp2 A G 2: 67,335,424 (GRCm39) E81G probably benign Het
Zbtb45 A G 7: 12,742,237 (GRCm39) V7A possibly damaging Het
Zfp668 C A 7: 127,465,474 (GRCm39) R570L possibly damaging Het
Zmiz1 T A 14: 25,636,390 (GRCm39) M125K possibly damaging Het
Zmiz2 T C 11: 6,355,072 (GRCm39) L913P probably damaging Het
Other mutations in Gata2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02558:Gata2 APN 6 88,176,762 (GRCm39) missense probably benign 0.04
IGL02616:Gata2 APN 6 88,182,462 (GRCm39) missense possibly damaging 0.88
IGL02637:Gata2 APN 6 88,181,558 (GRCm39) unclassified probably benign
IGL02705:Gata2 APN 6 88,182,346 (GRCm39) missense possibly damaging 0.49
IGL03143:Gata2 APN 6 88,181,677 (GRCm39) missense probably damaging 1.00
R1222:Gata2 UTSW 6 88,177,323 (GRCm39) missense probably benign 0.31
R1769:Gata2 UTSW 6 88,182,237 (GRCm39) missense probably benign
R3921:Gata2 UTSW 6 88,182,464 (GRCm39) makesense probably null
R4151:Gata2 UTSW 6 88,176,620 (GRCm39) missense probably damaging 1.00
R5834:Gata2 UTSW 6 88,177,729 (GRCm39) missense probably benign 0.04
R5888:Gata2 UTSW 6 88,177,722 (GRCm39) missense probably benign 0.00
R6236:Gata2 UTSW 6 88,179,548 (GRCm39) critical splice donor site probably null
R7605:Gata2 UTSW 6 88,177,390 (GRCm39) missense possibly damaging 0.89
R8752:Gata2 UTSW 6 88,177,513 (GRCm39) missense possibly damaging 0.90
R9469:Gata2 UTSW 6 88,182,301 (GRCm39) missense possibly damaging 0.68
R9649:Gata2 UTSW 6 88,179,505 (GRCm39) missense probably damaging 1.00
R9789:Gata2 UTSW 6 88,177,272 (GRCm39) missense probably benign 0.03
X0026:Gata2 UTSW 6 88,181,594 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ACCCTGGACTTCTTTTAAGGGG -3'
(R):5'- AACGAAGACCGACCTGACTG -3'

Sequencing Primer
(F):5'- CTGGACTTCTTTTAAGGGGACTCC -3'
(R):5'- CCCCCAAATGATTTGACTGATAAGAG -3'
Posted On 2017-02-10