Incidental Mutation 'R0415:Ggnbp2'
ID 40262
Institutional Source Beutler Lab
Gene Symbol Ggnbp2
Ensembl Gene ENSMUSG00000020530
Gene Name gametogenetin binding protein 2
Synonyms DIF-3, Zfp403, D330017P12Rik
MMRRC Submission 038617-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.878) question?
Stock # R0415 (G1)
Quality Score 137
Status Validated
Chromosome 11
Chromosomal Location 84723187-84761643 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to C at 84724051 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127584 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018547] [ENSMUST00000047560] [ENSMUST00000100686] [ENSMUST00000108081] [ENSMUST00000151496] [ENSMUST00000154915] [ENSMUST00000172405] [ENSMUST00000168434] [ENSMUST00000170741]
AlphaFold Q5SV77
Predicted Effect probably benign
Transcript: ENSMUST00000018547
SMART Domains Protein: ENSMUSP00000018547
Gene: ENSMUSG00000020530

DomainStartEndE-ValueType
low complexity region 179 185 N/A INTRINSIC
coiled coil region 393 426 N/A INTRINSIC
low complexity region 570 584 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000047560
SMART Domains Protein: ENSMUSP00000043467
Gene: ENSMUSG00000034449

DomainStartEndE-ValueType
Pfam:adh_short 12 214 1.4e-46 PFAM
Pfam:KR 13 154 1.7e-11 PFAM
Pfam:Epimerase 14 251 4.8e-7 PFAM
Pfam:adh_short_C2 18 245 1.8e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100686
SMART Domains Protein: ENSMUSP00000098252
Gene: ENSMUSG00000020530

DomainStartEndE-ValueType
coiled coil region 351 388 N/A INTRINSIC
low complexity region 508 522 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108081
SMART Domains Protein: ENSMUSP00000103716
Gene: ENSMUSG00000020530

DomainStartEndE-ValueType
coiled coil region 353 386 N/A INTRINSIC
low complexity region 530 544 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126016
Predicted Effect probably benign
Transcript: ENSMUST00000132098
SMART Domains Protein: ENSMUSP00000129898
Gene: ENSMUSG00000020530

DomainStartEndE-ValueType
low complexity region 17 31 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000151496
SMART Domains Protein: ENSMUSP00000122267
Gene: ENSMUSG00000034449

DomainStartEndE-ValueType
Pfam:adh_short 12 49 6.3e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154915
SMART Domains Protein: ENSMUSP00000117482
Gene: ENSMUSG00000020530

DomainStartEndE-ValueType
coiled coil region 351 384 N/A INTRINSIC
low complexity region 528 542 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172405
SMART Domains Protein: ENSMUSP00000127584
Gene: ENSMUSG00000020530

DomainStartEndE-ValueType
coiled coil region 353 386 N/A INTRINSIC
low complexity region 530 544 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168434
SMART Domains Protein: ENSMUSP00000130013
Gene: ENSMUSG00000020530

DomainStartEndE-ValueType
coiled coil region 351 384 N/A INTRINSIC
low complexity region 528 542 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168267
Predicted Effect probably benign
Transcript: ENSMUST00000170741
SMART Domains Protein: ENSMUSP00000128109
Gene: ENSMUSG00000020530

DomainStartEndE-ValueType
low complexity region 99 113 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 97% (99/102)
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trapped allele exhibit lethality throughout fetal growth and development associated with pallor and alterations in placental labyrinth vasculature morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427G23Rik A T 5: 24,036,048 (GRCm39) noncoding transcript Het
Acox2 A G 14: 8,243,835 (GRCm38) probably benign Het
Adgb T C 10: 10,306,811 (GRCm39) probably null Het
Adgra3 C A 5: 50,119,099 (GRCm39) probably benign Het
Adgre4 G A 17: 56,159,288 (GRCm39) V658I probably benign Het
Ahnak A G 19: 8,990,235 (GRCm39) probably benign Het
Anapc2 A G 2: 25,168,337 (GRCm39) T159A probably damaging Het
Arfgef3 A G 10: 18,488,875 (GRCm39) probably benign Het
Atf7ip C T 6: 136,537,010 (GRCm39) S81L possibly damaging Het
Cacna1i A G 15: 80,253,031 (GRCm39) probably benign Het
Camk1 A T 6: 113,318,852 (GRCm39) Y20* probably null Het
Ccdc40 T C 11: 119,122,944 (GRCm39) Y249H possibly damaging Het
Cd109 T A 9: 78,619,897 (GRCm39) S1380T probably benign Het
Cfap57 A T 4: 118,426,628 (GRCm39) L1107Q possibly damaging Het
Col6a4 C T 9: 105,952,279 (GRCm39) V540I probably damaging Het
Cst9 T A 2: 148,680,362 (GRCm39) probably benign Het
Cul5 C T 9: 53,578,370 (GRCm39) V73I probably benign Het
Cxcl16 T A 11: 70,349,574 (GRCm39) K84* probably null Het
Cyp2c29 T C 19: 39,317,539 (GRCm39) probably benign Het
D6Ertd527e C G 6: 87,088,506 (GRCm39) T223S unknown Het
Dip2c C T 13: 9,618,325 (GRCm39) probably benign Het
Dis3 A T 14: 99,324,892 (GRCm39) I513N probably damaging Het
Dnajc16 A T 4: 141,516,359 (GRCm39) L3* probably null Het
Dop1a T A 9: 86,388,555 (GRCm39) L480M probably damaging Het
Eml6 A G 11: 29,699,392 (GRCm39) V1787A possibly damaging Het
Etnk1 A G 6: 143,126,500 (GRCm39) N115S probably damaging Het
Fryl T C 5: 73,255,757 (GRCm39) Y758C probably damaging Het
Gbp4 G A 5: 105,268,972 (GRCm39) R394C possibly damaging Het
Gm7137 A G 10: 77,624,007 (GRCm39) probably benign Het
Gstm2 T A 3: 107,891,322 (GRCm39) Q132L probably benign Het
Habp2 T C 19: 56,306,149 (GRCm39) probably benign Het
Hectd2 T C 19: 36,562,284 (GRCm39) probably benign Het
Htr6 A G 4: 138,789,392 (GRCm39) I291T possibly damaging Het
Ighg2c T C 12: 113,251,530 (GRCm39) D199G unknown Het
Itih2 A G 2: 10,110,426 (GRCm39) probably benign Het
Kcnab2 A G 4: 152,479,593 (GRCm39) F248S probably benign Het
Kcnc4 T C 3: 107,352,749 (GRCm39) K610E probably damaging Het
Kcnk16 T A 14: 20,313,043 (GRCm39) probably null Het
Kndc1 C T 7: 139,510,037 (GRCm39) T1293I probably damaging Het
Lcp1 A T 14: 75,464,446 (GRCm39) I556F possibly damaging Het
Lrrc8d T C 5: 105,959,731 (GRCm39) L47P probably damaging Het
Lyset T A 12: 102,711,135 (GRCm39) Y119* probably null Het
Lyst T C 13: 13,886,195 (GRCm39) probably benign Het
Macrod2 G A 2: 142,052,065 (GRCm39) probably null Het
Mical2 C T 7: 111,980,235 (GRCm39) R70C probably damaging Het
Mllt3 ACTGCTGCTGCTGCTGCTGCT ACTGCTGCTGCTGCTGCT 4: 87,759,576 (GRCm39) probably benign Het
Msh3 A G 13: 92,483,294 (GRCm39) V283A possibly damaging Het
Nup205 T C 6: 35,191,569 (GRCm39) probably benign Het
Nxpe2 T C 9: 48,237,914 (GRCm39) T114A probably damaging Het
Or51e2 C T 7: 102,391,294 (GRCm39) M305I probably benign Het
Or5m10 A T 2: 85,717,782 (GRCm39) I213F possibly damaging Het
Or5m9 A T 2: 85,877,399 (GRCm39) H191L probably benign Het
Or8c15 A T 9: 38,121,269 (GRCm39) M305L probably benign Het
Or8g2 A G 9: 39,821,279 (GRCm39) Y60C probably damaging Het
Pard3 G A 8: 128,337,047 (GRCm39) G1221D probably damaging Het
Pax5 G A 4: 44,691,886 (GRCm39) A120V probably damaging Het
Pcsk6 C T 7: 65,683,622 (GRCm39) R746C probably damaging Het
Pif1 G A 9: 65,495,333 (GRCm39) C81Y probably benign Het
Plcb1 A G 2: 135,179,419 (GRCm39) Y609C probably damaging Het
Plcd4 C A 1: 74,591,256 (GRCm39) S217Y probably damaging Het
Plxna1 G A 6: 89,334,318 (GRCm39) H104Y probably benign Het
Polr2k A G 15: 36,175,602 (GRCm39) Y45C probably damaging Het
Prex1 A G 2: 166,428,619 (GRCm39) probably benign Het
Pth2r A G 1: 65,427,598 (GRCm39) M424V probably benign Het
Pygm A G 19: 6,441,396 (GRCm39) R464G probably benign Het
Rad51c A G 11: 87,288,481 (GRCm39) L234P probably damaging Het
Rnf145 A G 11: 44,415,965 (GRCm39) Y60C probably damaging Het
Rnf167 T C 11: 70,540,525 (GRCm39) I135T probably damaging Het
Rnf213 A T 11: 119,305,295 (GRCm39) I509F probably damaging Het
Ro60 G T 1: 143,635,813 (GRCm39) N444K probably benign Het
Ryr2 T C 13: 11,884,042 (GRCm39) S213G probably damaging Het
Selenbp1 T C 3: 94,844,224 (GRCm39) V27A possibly damaging Het
Selenof T G 3: 144,283,453 (GRCm39) L14R probably damaging Het
Sfswap A T 5: 129,581,190 (GRCm39) D121V probably damaging Het
Slc25a34 C A 4: 141,347,780 (GRCm39) M300I possibly damaging Het
Slc34a3 T G 2: 25,119,122 (GRCm39) T583P probably benign Het
Slc66a3 C A 12: 17,047,711 (GRCm39) probably benign Het
Smg1 C A 7: 117,781,691 (GRCm39) A1199S probably benign Het
Spint1 A G 2: 119,076,096 (GRCm39) T231A probably damaging Het
Sptbn1 A C 11: 30,099,576 (GRCm39) N229K probably damaging Het
Sult2b1 A G 7: 45,379,516 (GRCm39) probably benign Het
Tas2r123 A T 6: 132,824,801 (GRCm39) M233L probably damaging Het
Tbcel C A 9: 42,355,796 (GRCm39) C139F probably benign Het
Thbs2 A C 17: 14,900,235 (GRCm39) S573A probably benign Het
Tmem132c A G 5: 127,640,769 (GRCm39) E980G probably damaging Het
Tmem247 G T 17: 87,229,750 (GRCm39) C197F probably damaging Het
Tmem43 C A 6: 91,459,300 (GRCm39) P257Q probably benign Het
Tmprss13 A G 9: 45,248,430 (GRCm39) probably null Het
Ubr5 T C 15: 37,973,224 (GRCm39) T2626A probably damaging Het
Vmn1r196 T A 13: 22,478,006 (GRCm39) V215D probably damaging Het
Vmn1r22 G T 6: 57,877,317 (GRCm39) T220K probably benign Het
Vmn2r116 G A 17: 23,606,253 (GRCm39) M388I possibly damaging Het
Vmn2r74 A C 7: 85,610,618 (GRCm39) C25G probably damaging Het
Xndc1 T C 7: 101,729,823 (GRCm39) probably benign Het
Zfp282 A G 6: 47,874,815 (GRCm39) D340G probably damaging Het
Zfp282 T A 6: 47,881,987 (GRCm39) I558N possibly damaging Het
Zfp316 T A 5: 143,250,246 (GRCm39) T56S unknown Het
Zfp345 A G 2: 150,316,479 (GRCm39) probably benign Het
Other mutations in Ggnbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00971:Ggnbp2 APN 11 84,731,230 (GRCm39) missense possibly damaging 0.49
IGL02095:Ggnbp2 APN 11 84,723,954 (GRCm39) missense probably damaging 1.00
IGL02366:Ggnbp2 APN 11 84,732,427 (GRCm39) missense probably damaging 1.00
IGL02548:Ggnbp2 APN 11 84,753,112 (GRCm39) missense possibly damaging 0.78
R0211:Ggnbp2 UTSW 11 84,731,139 (GRCm39) missense probably damaging 1.00
R0211:Ggnbp2 UTSW 11 84,731,139 (GRCm39) missense probably damaging 1.00
R0375:Ggnbp2 UTSW 11 84,727,200 (GRCm39) nonsense probably null
R0433:Ggnbp2 UTSW 11 84,727,246 (GRCm39) missense probably damaging 1.00
R0589:Ggnbp2 UTSW 11 84,727,277 (GRCm39) missense probably damaging 1.00
R0970:Ggnbp2 UTSW 11 84,753,138 (GRCm39) missense possibly damaging 0.83
R1413:Ggnbp2 UTSW 11 84,723,955 (GRCm39) missense probably damaging 1.00
R1912:Ggnbp2 UTSW 11 84,753,122 (GRCm39) missense probably benign 0.02
R1997:Ggnbp2 UTSW 11 84,751,387 (GRCm39) missense probably damaging 1.00
R2161:Ggnbp2 UTSW 11 84,725,259 (GRCm39) missense probably benign 0.08
R2220:Ggnbp2 UTSW 11 84,727,439 (GRCm39) missense possibly damaging 0.46
R2879:Ggnbp2 UTSW 11 84,723,797 (GRCm39) splice site probably null
R2941:Ggnbp2 UTSW 11 84,732,407 (GRCm39) missense probably damaging 1.00
R3726:Ggnbp2 UTSW 11 84,744,920 (GRCm39) missense possibly damaging 0.93
R4662:Ggnbp2 UTSW 11 84,753,072 (GRCm39) missense probably damaging 1.00
R4771:Ggnbp2 UTSW 11 84,725,314 (GRCm39) missense probably benign 0.00
R5212:Ggnbp2 UTSW 11 84,744,847 (GRCm39) intron probably benign
R5310:Ggnbp2 UTSW 11 84,760,794 (GRCm39) start codon destroyed probably null 1.00
R5479:Ggnbp2 UTSW 11 84,745,169 (GRCm39) missense probably benign
R5924:Ggnbp2 UTSW 11 84,749,363 (GRCm39) missense possibly damaging 0.61
R6212:Ggnbp2 UTSW 11 84,727,503 (GRCm39) missense possibly damaging 0.94
R6700:Ggnbp2 UTSW 11 84,730,931 (GRCm39) missense probably damaging 1.00
R6931:Ggnbp2 UTSW 11 84,723,993 (GRCm39) missense probably damaging 1.00
R7031:Ggnbp2 UTSW 11 84,751,467 (GRCm39) missense probably damaging 1.00
R7493:Ggnbp2 UTSW 11 84,744,899 (GRCm39) missense probably benign 0.21
R7694:Ggnbp2 UTSW 11 84,751,539 (GRCm39) missense possibly damaging 0.94
R7761:Ggnbp2 UTSW 11 84,730,803 (GRCm39) splice site probably null
R8257:Ggnbp2 UTSW 11 84,728,815 (GRCm39) critical splice acceptor site probably null
R8355:Ggnbp2 UTSW 11 84,728,815 (GRCm39) critical splice acceptor site probably null
R8419:Ggnbp2 UTSW 11 84,728,815 (GRCm39) critical splice acceptor site probably null
R8511:Ggnbp2 UTSW 11 84,728,815 (GRCm39) critical splice acceptor site probably null
R8512:Ggnbp2 UTSW 11 84,728,815 (GRCm39) critical splice acceptor site probably null
R8532:Ggnbp2 UTSW 11 84,728,815 (GRCm39) critical splice acceptor site probably null
R8534:Ggnbp2 UTSW 11 84,728,815 (GRCm39) critical splice acceptor site probably null
R8551:Ggnbp2 UTSW 11 84,732,351 (GRCm39) nonsense probably null
R8695:Ggnbp2 UTSW 11 84,760,767 (GRCm39) missense possibly damaging 0.81
R8705:Ggnbp2 UTSW 11 84,753,132 (GRCm39) missense possibly damaging 0.82
R8864:Ggnbp2 UTSW 11 84,730,902 (GRCm39) missense probably damaging 1.00
R9055:Ggnbp2 UTSW 11 84,732,448 (GRCm39) missense probably damaging 1.00
R9142:Ggnbp2 UTSW 11 84,730,886 (GRCm39) missense possibly damaging 0.96
R9324:Ggnbp2 UTSW 11 84,725,174 (GRCm39) missense probably damaging 1.00
R9523:Ggnbp2 UTSW 11 84,745,188 (GRCm39) missense probably benign 0.07
R9578:Ggnbp2 UTSW 11 84,744,989 (GRCm39) missense probably benign 0.22
Z1187:Ggnbp2 UTSW 11 84,727,478 (GRCm39) missense probably benign 0.04
Z1188:Ggnbp2 UTSW 11 84,727,478 (GRCm39) missense probably benign 0.04
Z1189:Ggnbp2 UTSW 11 84,727,478 (GRCm39) missense probably benign 0.04
Z1190:Ggnbp2 UTSW 11 84,727,478 (GRCm39) missense probably benign 0.04
Z1192:Ggnbp2 UTSW 11 84,727,478 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- AAGGCGCAGTAGTCATCTTGAGTG -3'
(R):5'- ACACCTGGCAGAACTGTCTTTTGG -3'

Sequencing Primer
(F):5'- ACAAACGGGCCTCTTGTG -3'
(R):5'- CTGAAGTGTTTGAAACCAAGCTG -3'
Posted On 2013-05-23