Incidental Mutation 'R0313:Stox2'
ID 25336
Institutional Source Beutler Lab
Gene Symbol Stox2
Ensembl Gene ENSMUSG00000038143
Gene Name storkhead box 2
Synonyms 4933409N07Rik
MMRRC Submission 038523-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.176) question?
Stock # R0313 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 47633083-47866943 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 47645169 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 828 (G828R)
Ref Sequence ENSEMBL: ENSMUSP00000148776 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079195] [ENSMUST00000110367] [ENSMUST00000209337] [ENSMUST00000210030] [ENSMUST00000210153] [ENSMUST00000211737] [ENSMUST00000211882]
AlphaFold Q499E5
Predicted Effect probably benign
Transcript: ENSMUST00000079195
AA Change: G764R

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000078190
Gene: ENSMUSG00000038143
AA Change: G764R

DomainStartEndE-ValueType
low complexity region 15 30 N/A INTRINSIC
Pfam:Stork_head 63 141 4.5e-35 PFAM
low complexity region 225 236 N/A INTRINSIC
low complexity region 352 377 N/A INTRINSIC
low complexity region 459 473 N/A INTRINSIC
low complexity region 654 674 N/A INTRINSIC
low complexity region 717 731 N/A INTRINSIC
low complexity region 783 795 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110367
AA Change: G702R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000105996
Gene: ENSMUSG00000038143
AA Change: G702R

DomainStartEndE-ValueType
Pfam:Stork_head 1 79 5.6e-35 PFAM
low complexity region 163 174 N/A INTRINSIC
low complexity region 290 315 N/A INTRINSIC
low complexity region 397 411 N/A INTRINSIC
low complexity region 592 612 N/A INTRINSIC
low complexity region 655 669 N/A INTRINSIC
low complexity region 721 733 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000209337
Predicted Effect probably damaging
Transcript: ENSMUST00000210030
AA Change: G702R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000210153
Predicted Effect probably benign
Transcript: ENSMUST00000211737
AA Change: G764R

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably damaging
Transcript: ENSMUST00000211882
AA Change: G828R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Meta Mutation Damage Score 0.1659 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.9%
  • 20x: 88.5%
Validation Efficiency 98% (40/41)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a Storkhead-box_winged-helix domain containing protein. This protein is differentially expressed in decidual tissue and may be involved in the susceptibility to pre-eclampsia with fetal growth restriction. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg2 A G 6: 58,649,082 (GRCm39) E309G probably benign Het
Ankmy1 C T 1: 92,813,943 (GRCm39) G412D probably damaging Het
Cc2d1a G A 8: 84,863,598 (GRCm39) T542I probably benign Het
Cldn18 T C 9: 99,580,967 (GRCm39) I94V probably benign Het
Cobll1 G A 2: 64,926,088 (GRCm39) R1195* probably null Het
Dnah7b A G 1: 46,246,803 (GRCm39) T1660A probably damaging Het
Dzip3 G T 16: 48,757,424 (GRCm39) Q870K probably damaging Het
Ebf4 T C 2: 130,148,707 (GRCm39) probably benign Het
Ecpas A G 4: 58,811,892 (GRCm39) I1411T probably benign Het
Esyt2 T C 12: 116,311,428 (GRCm39) L439P probably damaging Het
Fbxl17 G A 17: 63,663,846 (GRCm39) R67C probably damaging Het
Haspin A G 11: 73,027,124 (GRCm39) V655A probably damaging Het
Kmt2c T C 5: 25,549,928 (GRCm39) E1351G probably damaging Het
Lama2 C A 10: 26,869,394 (GRCm39) probably null Het
Lcp1 A G 14: 75,436,873 (GRCm39) E73G probably damaging Het
Ltv1 C T 10: 13,058,604 (GRCm39) probably null Het
Mcmdc2 A G 1: 10,002,366 (GRCm39) Y529C probably damaging Het
Myo3b T A 2: 70,179,303 (GRCm39) Y1172* probably null Het
Ncf1 T C 5: 134,258,421 (GRCm39) M1V probably null Het
Or4k47 C T 2: 111,451,945 (GRCm39) S158N possibly damaging Het
Or6c8b A G 10: 128,882,695 (GRCm39) V79A possibly damaging Het
Or8c10 T C 9: 38,279,600 (GRCm39) S243P probably damaging Het
Pcif1 A T 2: 164,726,339 (GRCm39) H80L probably damaging Het
Pclo T C 5: 14,728,887 (GRCm39) probably benign Het
Polr2a T C 11: 69,625,906 (GRCm39) Y1710C unknown Het
Ppp1r37 G A 7: 19,267,923 (GRCm39) T324I probably damaging Het
Prmt1 T C 7: 44,628,172 (GRCm39) D176G probably benign Het
Scn5a T C 9: 119,363,637 (GRCm39) D501G probably damaging Het
Ska2 A G 11: 87,008,640 (GRCm39) I89M possibly damaging Het
Slc39a7 G A 17: 34,248,518 (GRCm39) A375V probably damaging Het
Ssrp1 T A 2: 84,871,898 (GRCm39) I374N probably damaging Het
Tcam1 G A 11: 106,174,904 (GRCm39) E120K probably benign Het
Uqcrc1 C A 9: 108,777,642 (GRCm39) R114S possibly damaging Het
Usp38 A T 8: 81,711,071 (GRCm39) L988* probably null Het
Vmn2r5 T A 3: 64,411,248 (GRCm39) H440L probably benign Het
Wdr12 A T 1: 60,121,738 (GRCm39) I271N possibly damaging Het
Xylt2 C T 11: 94,560,720 (GRCm39) probably benign Het
Other mutations in Stox2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02234:Stox2 APN 8 47,646,647 (GRCm39) missense probably damaging 1.00
IGL02331:Stox2 APN 8 47,644,979 (GRCm39) missense probably damaging 0.96
IGL02399:Stox2 APN 8 47,639,573 (GRCm39) missense probably damaging 0.99
IGL03091:Stox2 APN 8 47,646,222 (GRCm39) missense possibly damaging 0.66
IGL03143:Stox2 APN 8 47,646,839 (GRCm39) missense possibly damaging 0.78
IGL03307:Stox2 APN 8 47,647,065 (GRCm39) missense probably damaging 1.00
R0082:Stox2 UTSW 8 47,656,317 (GRCm39) splice site probably benign
R0382:Stox2 UTSW 8 47,656,319 (GRCm39) splice site probably benign
R0513:Stox2 UTSW 8 47,646,900 (GRCm39) missense probably damaging 1.00
R0539:Stox2 UTSW 8 47,647,070 (GRCm39) missense probably damaging 0.97
R0920:Stox2 UTSW 8 47,646,053 (GRCm39) missense probably damaging 1.00
R1764:Stox2 UTSW 8 47,647,051 (GRCm39) nonsense probably null
R1923:Stox2 UTSW 8 47,646,661 (GRCm39) missense probably damaging 1.00
R2311:Stox2 UTSW 8 47,645,013 (GRCm39) missense probably damaging 1.00
R3196:Stox2 UTSW 8 47,645,865 (GRCm39) missense probably damaging 0.99
R3715:Stox2 UTSW 8 47,866,187 (GRCm39) missense possibly damaging 0.90
R4300:Stox2 UTSW 8 47,647,027 (GRCm39) nonsense probably null
R4534:Stox2 UTSW 8 47,646,414 (GRCm39) missense probably damaging 1.00
R4600:Stox2 UTSW 8 47,645,970 (GRCm39) missense probably damaging 1.00
R4601:Stox2 UTSW 8 47,645,970 (GRCm39) missense probably damaging 1.00
R4602:Stox2 UTSW 8 47,645,970 (GRCm39) missense probably damaging 1.00
R4603:Stox2 UTSW 8 47,645,970 (GRCm39) missense probably damaging 1.00
R4610:Stox2 UTSW 8 47,645,970 (GRCm39) missense probably damaging 1.00
R4624:Stox2 UTSW 8 47,646,851 (GRCm39) missense probably damaging 1.00
R4672:Stox2 UTSW 8 47,645,141 (GRCm39) missense probably damaging 1.00
R4888:Stox2 UTSW 8 47,656,198 (GRCm39) missense probably damaging 1.00
R4944:Stox2 UTSW 8 47,866,300 (GRCm39) missense possibly damaging 0.46
R5331:Stox2 UTSW 8 47,866,662 (GRCm39) utr 5 prime probably benign
R5349:Stox2 UTSW 8 47,740,951 (GRCm39) missense possibly damaging 0.70
R5367:Stox2 UTSW 8 47,656,260 (GRCm39) missense probably damaging 1.00
R5471:Stox2 UTSW 8 47,646,548 (GRCm39) missense probably damaging 0.96
R5561:Stox2 UTSW 8 47,646,041 (GRCm39) missense probably damaging 1.00
R5630:Stox2 UTSW 8 47,644,925 (GRCm39) missense probably damaging 1.00
R5719:Stox2 UTSW 8 47,866,172 (GRCm39) nonsense probably null
R5733:Stox2 UTSW 8 47,866,172 (GRCm39) nonsense probably null
R5996:Stox2 UTSW 8 47,656,182 (GRCm39) missense possibly damaging 0.93
R6170:Stox2 UTSW 8 47,645,055 (GRCm39) missense probably benign 0.02
R6458:Stox2 UTSW 8 47,645,079 (GRCm39) missense possibly damaging 0.66
R6786:Stox2 UTSW 8 47,639,500 (GRCm39) missense probably damaging 1.00
R6815:Stox2 UTSW 8 47,646,136 (GRCm39) missense probably damaging 1.00
R6951:Stox2 UTSW 8 47,656,167 (GRCm39) missense probably damaging 1.00
R7193:Stox2 UTSW 8 47,639,489 (GRCm39) missense probably benign
R7330:Stox2 UTSW 8 47,645,271 (GRCm39) missense possibly damaging 0.61
R7552:Stox2 UTSW 8 47,656,154 (GRCm39) critical splice donor site probably null
R8001:Stox2 UTSW 8 47,639,512 (GRCm39) missense probably benign 0.06
R8266:Stox2 UTSW 8 47,645,060 (GRCm39) missense probably damaging 0.99
R8506:Stox2 UTSW 8 47,645,108 (GRCm39) missense possibly damaging 0.79
R8935:Stox2 UTSW 8 47,645,895 (GRCm39) missense possibly damaging 0.66
R9261:Stox2 UTSW 8 47,645,441 (GRCm39) missense possibly damaging 0.78
R9325:Stox2 UTSW 8 47,647,095 (GRCm39) missense probably benign 0.45
R9505:Stox2 UTSW 8 47,645,304 (GRCm39) missense probably benign 0.28
X0027:Stox2 UTSW 8 47,646,875 (GRCm39) missense possibly damaging 0.95
Z1177:Stox2 UTSW 8 47,647,085 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGGGAGTTGAATCCACTGTCCAC -3'
(R):5'- AATGGCCGCCTTGTCCAACATC -3'

Sequencing Primer
(F):5'- AATCCACTGTCCACCGTGATG -3'
(R):5'- GCCTTGTCCAACATCATAGCG -3'
Posted On 2013-04-16