Incidental Mutation 'R6700:Ggnbp2'
ID 528229
Institutional Source Beutler Lab
Gene Symbol Ggnbp2
Ensembl Gene ENSMUSG00000020530
Gene Name gametogenetin binding protein 2
Synonyms DIF-3, Zfp403, D330017P12Rik
MMRRC Submission 044818-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.878) question?
Stock # R6700 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 84723187-84761643 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 84730931 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 364 (R364L)
Ref Sequence ENSEMBL: ENSMUSP00000130013 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018547] [ENSMUST00000100686] [ENSMUST00000108081] [ENSMUST00000154915] [ENSMUST00000172405] [ENSMUST00000168434] [ENSMUST00000170741]
AlphaFold Q5SV77
Predicted Effect probably damaging
Transcript: ENSMUST00000018547
AA Change: R406L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000018547
Gene: ENSMUSG00000020530
AA Change: R406L

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 damaging
Transcript: ENSMUST00000100686
AA Change: R364L

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000098252
Gene: ENSMUSG00000020530
AA Change: R364L

DomainStartEndE-ValueType
coiled coil region 351 388 N/A INTRINSIC
low complexity region 508 522 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108081
AA Change: R366L

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000103716
Gene: ENSMUSG00000020530
AA Change: R366L

DomainStartEndE-ValueType
coiled coil region 353 386 N/A INTRINSIC
low complexity region 530 544 N/A INTRINSIC
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 damaging
Transcript: ENSMUST00000154915
AA Change: R364L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117482
Gene: ENSMUSG00000020530
AA Change: R364L

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 possibly damaging
Transcript: ENSMUST00000172405
AA Change: R366L

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000127584
Gene: ENSMUSG00000020530
AA Change: R366L

DomainStartEndE-ValueType
coiled coil region 353 386 N/A INTRINSIC
low complexity region 530 544 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000168434
AA Change: R364L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000130013
Gene: ENSMUSG00000020530
AA Change: R364L

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

DomainStartEndE-ValueType
low complexity region 99 113 N/A INTRINSIC
Meta Mutation Damage Score 0.0821 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.0%
Validation Efficiency 100% (62/62)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik T C 9: 55,881,140 (GRCm39) E504G unknown Het
Aak1 G A 6: 86,941,185 (GRCm39) E660K unknown Het
Abcc9 A G 6: 142,633,013 (GRCm39) I243T possibly damaging Het
Baiap3 A G 17: 25,463,000 (GRCm39) S1013P probably damaging Het
Bdp1 A T 13: 100,162,036 (GRCm39) D2295E probably benign Het
Blm A G 7: 80,113,598 (GRCm39) V1233A possibly damaging Het
Brsk1 G T 7: 4,695,700 (GRCm39) V62F probably damaging Het
Cacna2d1 A G 5: 16,570,458 (GRCm39) E1011G probably damaging Het
Cdh18 A G 15: 23,474,191 (GRCm39) Y687C probably benign Het
Cfap221 T C 1: 119,883,421 (GRCm39) E250G possibly damaging Het
Col5a3 C T 9: 20,690,329 (GRCm39) G1162R probably damaging Het
Cps1 G T 1: 67,268,682 (GRCm39) probably null Het
Cyp4v3 A G 8: 45,760,130 (GRCm39) V34A probably damaging Het
Dnah9 C T 11: 65,846,192 (GRCm39) V2949M probably damaging Het
Dst A C 1: 34,295,404 (GRCm39) Q3454P probably damaging Het
Filip1l T C 16: 57,391,611 (GRCm39) L495P possibly damaging Het
Flnb C A 14: 7,892,189 (GRCm38) H619Q probably damaging Het
Fst G C 13: 114,595,043 (GRCm39) A27G probably benign Het
Gins1 C T 2: 150,758,148 (GRCm39) A78V probably damaging Het
Gm19410 T A 8: 36,274,664 (GRCm39) L1495H possibly damaging Het
Golgb1 C T 16: 36,695,946 (GRCm39) probably benign Het
Lin7a A G 10: 107,216,167 (GRCm39) probably null Het
Lrp6 A T 6: 134,456,523 (GRCm39) C914S probably damaging Het
Lrrc8e G A 8: 4,286,034 (GRCm39) G753D probably damaging Het
Mapk4 A G 18: 74,063,882 (GRCm39) Y447H probably damaging Het
Mbl1 A G 14: 40,880,511 (GRCm39) N133S probably damaging Het
Mrps30 A T 13: 118,517,134 (GRCm39) S362T probably damaging Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Nbea T C 3: 55,989,869 (GRCm39) N329S possibly damaging Het
Or13p10 A T 4: 118,523,609 (GRCm39) K298N probably benign Het
Or51k2 G A 7: 103,596,531 (GRCm39) V253M probably damaging Het
Or5b120 A T 19: 13,480,177 (GRCm39) I157F probably damaging Het
Or6k14 G A 1: 173,927,405 (GRCm39) C127Y probably damaging Het
Pik3c3 A G 18: 30,449,954 (GRCm39) E589G probably benign Het
Plb1 A T 5: 32,490,808 (GRCm39) D1035V probably damaging Het
Plekhg1 G T 10: 3,907,373 (GRCm39) M763I probably benign Het
Poc5 A G 13: 96,531,003 (GRCm39) N67S probably benign Het
Psmd13 T A 7: 140,470,522 (GRCm39) W255R probably damaging Het
Rbm27 A G 18: 42,459,004 (GRCm39) Y735C probably damaging Het
Rhpn2 A T 7: 35,075,594 (GRCm39) N257I possibly damaging Het
Rilpl2 C T 5: 124,607,843 (GRCm39) E126K probably damaging Het
Rp1 G A 1: 4,420,119 (GRCm39) T331M probably damaging Het
Sh3pxd2a A G 19: 47,353,146 (GRCm39) V105A possibly damaging Het
Slc9a9 T C 9: 94,818,364 (GRCm39) S253P possibly damaging Het
St8sia3 C T 18: 64,398,452 (GRCm39) probably benign Het
Strbp T C 2: 37,493,975 (GRCm39) D366G probably null Het
Tbx5 A G 5: 120,009,462 (GRCm39) T324A probably benign Het
Tex15 T A 8: 34,064,917 (GRCm39) I1449N possibly damaging Het
Tmtc3 C T 10: 100,307,339 (GRCm39) V222I probably benign Het
Top3b T C 16: 16,710,533 (GRCm39) S788P possibly damaging Het
Tsc22d4 A G 5: 137,756,785 (GRCm39) D71G probably benign Het
Tubgcp4 T A 2: 121,020,329 (GRCm39) V434E probably benign Het
Ufsp1 A G 5: 137,293,158 (GRCm39) Y36C possibly damaging Het
Unc79 T A 12: 103,091,962 (GRCm39) H1956Q possibly damaging Het
Usp34 A T 11: 23,389,011 (GRCm39) N2217I probably damaging Het
Vmn2r112 A T 17: 22,822,462 (GRCm39) D380V possibly damaging Het
Vmn2r13 A G 5: 109,322,938 (GRCm39) I117T probably benign Het
Vmn2r53 A G 7: 12,315,633 (GRCm39) Y729H probably damaging Het
Wnt3a A T 11: 59,140,587 (GRCm39) L310M probably damaging Het
Zc3h7a T C 16: 10,976,831 (GRCm39) Q155R possibly damaging 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
R0415:Ggnbp2 UTSW 11 84,724,051 (GRCm39) splice site probably benign
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
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'- ACCCATGATTTTGGAGGAAAAGC -3'
(R):5'- GCTTTACGTAAGAGCTTTGAGG -3'

Sequencing Primer
(F):5'- CCATGATTTTGGAGGAAAAGCCATAC -3'
(R):5'- AGGTAAGTGGATCGCTTCTGAC -3'
Posted On 2018-07-24