Incidental Mutation 'R0513:Stox2'
ID 48007
Institutional Source Beutler Lab
Gene Symbol Stox2
Ensembl Gene ENSMUSG00000038143
Gene Name storkhead box 2
Synonyms 4933409N07Rik
MMRRC Submission 038707-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.176) question?
Stock # R0513 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 47633083-47866943 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 47646900 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 187 (R187G)
Ref Sequence ENSEMBL: ENSMUSP00000147477 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079195] [ENSMUST00000110367] [ENSMUST00000209337] [ENSMUST00000210030] [ENSMUST00000210153] [ENSMUST00000211737] [ENSMUST00000211882]
AlphaFold Q499E5
Predicted Effect probably damaging
Transcript: ENSMUST00000079195
AA Change: R187G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000078190
Gene: ENSMUSG00000038143
AA Change: R187G

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: R125G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000105996
Gene: ENSMUSG00000038143
AA Change: R125G

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: R125G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000210153
Predicted Effect probably damaging
Transcript: ENSMUST00000211737
AA Change: R187G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect possibly damaging
Transcript: ENSMUST00000211882
AA Change: R251G

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
Meta Mutation Damage Score 0.0662 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.7%
  • 10x: 96.6%
  • 20x: 92.9%
Validation Efficiency 99% (122/123)
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: 118 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik A G 13: 119,606,195 (GRCm39) T146A probably benign Het
Abcg4 A G 9: 44,192,984 (GRCm39) S121P possibly damaging Het
Actr2 T C 11: 20,030,124 (GRCm39) T212A probably damaging Het
Adcy10 T A 1: 165,347,088 (GRCm39) D368E probably benign Het
Albfm1 A T 5: 90,725,786 (GRCm39) T333S probably benign Het
Anapc15 T C 7: 101,547,747 (GRCm39) probably benign Het
Aox4 A G 1: 58,256,678 (GRCm39) R67G probably benign Het
Aox4 A G 1: 58,286,459 (GRCm39) D697G probably damaging Het
Arhgap42 A T 9: 9,005,766 (GRCm39) S755T probably benign Het
Atm A G 9: 53,415,248 (GRCm39) V881A probably benign Het
Cdkal1 C T 13: 29,809,948 (GRCm39) probably benign Het
Cfap20dc A C 14: 8,536,609 (GRCm38) D199E probably damaging Het
Cfap61 C A 2: 145,877,215 (GRCm39) N491K possibly damaging Het
Chgb T C 2: 132,627,897 (GRCm39) probably benign Het
Chrna1 C A 2: 73,398,426 (GRCm39) probably benign Het
Chst10 A G 1: 38,904,844 (GRCm39) L283P probably damaging Het
Clca3a1 A G 3: 144,466,323 (GRCm39) probably null Het
Crppa A T 12: 36,440,467 (GRCm39) H125L probably damaging Het
Cryzl1 G T 16: 91,496,175 (GRCm39) A1E possibly damaging Het
Csnk1a1 T C 18: 61,709,618 (GRCm39) Y213H probably damaging Het
Cspg4 A G 9: 56,805,375 (GRCm39) Q2062R probably benign Het
Ctnnal1 A G 4: 56,835,348 (GRCm39) C310R probably benign Het
D630003M21Rik T C 2: 158,042,228 (GRCm39) E906G probably benign Het
D930048N14Rik T C 11: 51,545,755 (GRCm39) probably benign Het
Dag1 G A 9: 108,085,684 (GRCm39) P486S possibly damaging Het
Dgkq A G 5: 108,804,361 (GRCm39) L33P probably benign Het
Dlc1 C T 8: 37,051,164 (GRCm39) G856R probably damaging Het
Dst T A 1: 34,258,612 (GRCm39) probably benign Het
Dtl A T 1: 191,301,819 (GRCm39) Y79* probably null Het
Egfr T G 11: 16,822,855 (GRCm39) L406R probably damaging Het
Elp3 A T 14: 65,800,695 (GRCm39) probably null Het
Fbxw19 C A 9: 109,310,621 (GRCm39) probably null Het
Frs2 T C 10: 116,910,570 (GRCm39) E264G possibly damaging Het
Fscn2 G T 11: 120,252,706 (GRCm39) V58L probably damaging Het
Gm17324 G A 9: 78,356,007 (GRCm39) probably benign Het
Gm4787 A T 12: 81,425,086 (GRCm39) N357K probably benign Het
Gm9956 G T 10: 56,621,291 (GRCm39) Het
Gsg1l C T 7: 125,619,795 (GRCm39) probably null Het
Herc1 G A 9: 66,352,927 (GRCm39) V2138M possibly damaging Het
Htr2a T C 14: 74,943,764 (GRCm39) L448P probably benign Het
Ing3 C T 6: 21,970,034 (GRCm39) S255L probably damaging Het
Krt78 T C 15: 101,859,384 (GRCm39) D271G probably damaging Het
Lmbrd2 T A 15: 9,194,816 (GRCm39) L606H probably damaging Het
Lmod1 T A 1: 135,252,906 (GRCm39) N53K probably damaging Het
Lsr G C 7: 30,657,763 (GRCm39) A467G probably benign Het
Mbtd1 T A 11: 93,823,038 (GRCm39) probably null Het
Mill1 T A 7: 17,998,802 (GRCm39) Y337* probably null Het
Mlxipl A T 5: 135,166,117 (GRCm39) Q833L probably benign Het
Mon2 C T 10: 122,874,515 (GRCm39) V278M probably damaging Het
Mxra8 A C 4: 155,926,190 (GRCm39) M180L probably benign Het
Myo18a A T 11: 77,702,420 (GRCm39) probably benign Het
Myo1c T G 11: 75,556,657 (GRCm39) probably null Het
Myo1g T C 11: 6,460,203 (GRCm39) T782A probably benign Het
Ncapd3 A G 9: 26,975,401 (GRCm39) probably benign Het
Neb T C 2: 52,198,699 (GRCm39) D414G probably damaging Het
Nedd4l T A 18: 65,328,256 (GRCm39) probably benign Het
Nf2 T C 11: 4,741,185 (GRCm39) K343R possibly damaging Het
Nfasc A T 1: 132,531,584 (GRCm39) D733E possibly damaging Het
Nolc1 G A 19: 46,072,598 (GRCm39) D699N probably damaging Het
Nrbp2 C T 15: 75,960,825 (GRCm39) A45T probably benign Het
Obscn A G 11: 58,952,348 (GRCm39) V3907A possibly damaging Het
Or2b6 A T 13: 21,823,119 (GRCm39) D191E probably benign Het
Or2y6 T C 11: 52,104,576 (GRCm39) Q80R possibly damaging Het
Or8b8 A T 9: 37,809,351 (GRCm39) Y217F probably damaging Het
Pank2 C T 2: 131,124,526 (GRCm39) T290I probably damaging Het
Pbx4 T C 8: 70,317,529 (GRCm39) V171A probably benign Het
Pcgf1 G T 6: 83,057,555 (GRCm39) V75F probably damaging Het
Pik3ca T C 3: 32,515,660 (GRCm39) S778P probably damaging Het
Pld6 T C 11: 59,676,047 (GRCm39) I141M probably damaging Het
Polq T A 16: 36,914,864 (GRCm39) V2508E probably damaging Het
Prkca C G 11: 107,905,202 (GRCm39) D179H possibly damaging Het
Pspn T C 17: 57,306,720 (GRCm39) S70G probably damaging Het
Ptchd4 C T 17: 42,814,637 (GRCm39) T846I probably benign Het
Reg3g A C 6: 78,444,827 (GRCm39) Y50* probably null Het
Rev3l C T 10: 39,704,139 (GRCm39) H2062Y probably benign Het
Rsph4a C T 10: 33,788,987 (GRCm39) Q611* probably null Het
Scart1 C A 7: 139,804,873 (GRCm39) C625* probably null Het
Scgb1b20 G A 7: 33,072,739 (GRCm39) probably null Het
Sfxn5 T C 6: 85,246,955 (GRCm39) probably benign Het
Sh3tc1 T A 5: 35,857,651 (GRCm39) Q1179L possibly damaging Het
Skint11 A G 4: 114,051,762 (GRCm39) I37V probably benign Het
Slc35f5 T C 1: 125,503,906 (GRCm39) probably benign Het
Slc8a2 A C 7: 15,891,264 (GRCm39) D768A probably damaging Het
Slco6b1 A G 1: 96,924,909 (GRCm39) noncoding transcript Het
Smurf2 T A 11: 106,726,931 (GRCm39) T453S probably benign Het
Spag16 A G 1: 70,532,927 (GRCm39) probably benign Het
Spindoc G A 19: 7,351,509 (GRCm39) T205I probably benign Het
Stab1 T C 14: 30,870,902 (GRCm39) I1316V probably benign Het
Tcea2 A C 2: 181,326,274 (GRCm39) T93P probably benign Het
Tenm4 T C 7: 96,544,830 (GRCm39) M2311T probably benign Het
Tmem63a A G 1: 180,788,026 (GRCm39) Q260R probably benign Het
Tnpo2 A T 8: 85,780,158 (GRCm39) H698L probably benign Het
Trim33 A G 3: 103,217,700 (GRCm39) D215G probably damaging Het
Ttc3 T A 16: 94,227,071 (GRCm39) I727N probably damaging Het
Ttn T A 2: 76,773,669 (GRCm39) K2271N probably damaging Het
Ubr2 T A 17: 47,297,705 (GRCm39) K223* probably null Het
Ubr4 A G 4: 139,144,186 (GRCm39) M1410V possibly damaging Het
Ugt2b35 T C 5: 87,151,271 (GRCm39) probably benign Het
Ulk4 T A 9: 120,981,391 (GRCm39) H880L probably benign Het
Unc80 G A 1: 66,661,633 (GRCm39) C1686Y possibly damaging Het
Upf2 T A 2: 5,962,478 (GRCm39) L60Q unknown Het
Usf2 A T 7: 30,654,161 (GRCm39) probably benign Het
Usp21 T A 1: 171,110,586 (GRCm39) probably benign Het
Usp21 T A 1: 171,110,588 (GRCm39) probably benign Het
Vmn2r118 T A 17: 55,917,970 (GRCm39) K181* probably null Het
Vmn2r124 T A 17: 18,293,991 (GRCm39) S693T possibly damaging Het
Vmn2r76 C A 7: 85,877,987 (GRCm39) G470V probably benign Het
Vps13c A C 9: 67,838,017 (GRCm39) I1856L probably benign Het
Vps50 C T 6: 3,520,210 (GRCm39) L119F probably damaging Het
Wdfy3 T A 5: 102,038,655 (GRCm39) S2012C probably damaging Het
Zfp1008 A C 13: 62,753,029 (GRCm39) V99G possibly damaging Het
Zfp142 A G 1: 74,610,714 (GRCm39) V924A probably damaging Het
Zfp217 C T 2: 169,957,382 (GRCm39) A539T probably benign Het
Zfp235 T C 7: 23,841,644 (GRCm39) S688P probably damaging Het
Zfp39 C T 11: 58,780,813 (GRCm39) V650I probably benign Het
Zfp82 A T 7: 29,756,265 (GRCm39) N272K probably damaging Het
Zfyve21 A C 12: 111,789,698 (GRCm39) D54A possibly damaging Het
Zfyve26 C T 12: 79,291,258 (GRCm39) D2116N probably damaging 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
R0313:Stox2 UTSW 8 47,645,169 (GRCm39) missense probably damaging 1.00
R0382:Stox2 UTSW 8 47,656,319 (GRCm39) splice site probably benign
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'- GCAGTGTGCCTCATGACATTTTCC -3'
(R):5'- TAGGTGTTCCAACCCCAAGCCAAG -3'

Sequencing Primer
(F):5'- TCAGCCGGAATAACTTGAGAC -3'
(R):5'- GAGAGGAAAATCTATCCGACTCCG -3'
Posted On 2013-06-12