Incidental Mutation 'R1509:Sez6l2'
ID 168139
Institutional Source Beutler Lab
Gene Symbol Sez6l2
Ensembl Gene ENSMUSG00000030683
Gene Name seizure related 6 homolog like 2
Synonyms Psk1
MMRRC Submission 039556-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1509 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 126549735-126569778 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 126562535 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 604 (R604H)
Ref Sequence ENSEMBL: ENSMUSP00000101942 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106332] [ENSMUST00000106333] [ENSMUST00000106335]
AlphaFold Q4V9Z5
Predicted Effect probably damaging
Transcript: ENSMUST00000106332
AA Change: R544H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101939
Gene: ENSMUSG00000030683
AA Change: R544H

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 70 86 N/A INTRINSIC
low complexity region 93 108 N/A INTRINSIC
CUB 113 226 8.25e-4 SMART
CCP 230 285 3.75e-15 SMART
CUB 289 399 1.3e-3 SMART
CCP 404 463 8.9e-8 SMART
CUB 467 578 3.45e-14 SMART
CCP 584 639 1.18e-12 SMART
CCP 645 704 1.31e-14 SMART
CCP 711 768 2.76e-13 SMART
transmembrane domain 798 820 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106333
AA Change: R604H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101940
Gene: ENSMUSG00000030683
AA Change: R604H

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 115 146 N/A INTRINSIC
low complexity region 153 168 N/A INTRINSIC
CUB 173 286 8.25e-4 SMART
CCP 290 345 3.75e-15 SMART
CUB 349 459 1.3e-3 SMART
CCP 464 523 8.9e-8 SMART
CUB 527 638 3.45e-14 SMART
CCP 644 699 1.18e-12 SMART
CCP 705 764 1.31e-14 SMART
CCP 771 828 2.76e-13 SMART
transmembrane domain 858 880 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106335
AA Change: R604H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101942
Gene: ENSMUSG00000030683
AA Change: R604H

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 115 146 N/A INTRINSIC
low complexity region 153 168 N/A INTRINSIC
CUB 173 286 8.25e-4 SMART
CCP 290 345 3.75e-15 SMART
CUB 349 459 1.3e-3 SMART
CCP 464 523 8.9e-8 SMART
CUB 527 638 3.45e-14 SMART
CCP 644 699 1.18e-12 SMART
CCP 705 764 1.31e-14 SMART
CCP 771 828 2.76e-13 SMART
transmembrane domain 845 867 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125669
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134471
Predicted Effect probably benign
Transcript: ENSMUST00000155138
Meta Mutation Damage Score 0.2046 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.1%
Validation Efficiency 99% (89/90)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a seizure-related protein that is localized on the cell surface. The gene is located in a region of chromosome 16p11.2 that is thought to contain candidate genes for autism spectrum disorders (ASD), though there is no evidence directly implicating this gene in ASD. Increased expression of this gene has been found in lung cancers, and the protein is therefore considered to be a novel prognostic marker for lung cancer. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit no apparent defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,340,766 (GRCm39) S132P probably benign Het
AC153895.1 T C 6: 50,020,451 (GRCm39) R54G unknown Het
Acot12 G A 13: 91,919,994 (GRCm39) probably null Het
Adhfe1 T A 1: 9,623,671 (GRCm39) D98E probably benign Het
Ago2 A G 15: 72,988,213 (GRCm39) F594S probably damaging Het
Aldh18a1 A G 19: 40,545,927 (GRCm39) I620T probably damaging Het
Aspscr1 C A 11: 120,592,342 (GRCm39) A294D probably damaging Het
Bod1l C G 5: 41,976,883 (GRCm39) R1477T probably damaging Het
Ccdc18 C A 5: 108,336,844 (GRCm39) A741D possibly damaging Het
Ces4a G A 8: 105,864,729 (GRCm39) G69S probably damaging Het
Cfap52 C T 11: 67,829,819 (GRCm39) V317I probably benign Het
Cgn A T 3: 94,681,568 (GRCm39) L509Q probably benign Het
Crb2 A G 2: 37,676,631 (GRCm39) H204R probably benign Het
Cspg4b A G 13: 113,504,790 (GRCm39) N431S probably damaging Het
Ddx39a G A 8: 84,446,527 (GRCm39) V99M probably damaging Het
Dis3l2 T A 1: 86,948,808 (GRCm39) C582S possibly damaging Het
Dmbt1 G A 7: 130,676,061 (GRCm39) probably benign Het
Dnah6 T C 6: 73,004,425 (GRCm39) E3846G probably damaging Het
Dstyk A G 1: 132,384,084 (GRCm39) E655G probably damaging Het
Epha4 T C 1: 77,357,523 (GRCm39) Y825C probably damaging Het
Esp36 T A 17: 38,728,173 (GRCm39) N36I probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fem1c A G 18: 46,657,280 (GRCm39) S145P probably benign Het
Galnt13 T C 2: 54,623,094 (GRCm39) I80T probably damaging Het
Gm5698 T C 1: 31,016,728 (GRCm39) T108A probably benign Het
Hipk3 A G 2: 104,271,607 (GRCm39) S442P probably benign Het
Hmcn2 T A 2: 31,204,491 (GRCm39) V22D possibly damaging Het
Hspg2 C T 4: 137,238,552 (GRCm39) probably benign Het
Ide A G 19: 37,262,603 (GRCm39) probably null Het
Ifnar1 C A 16: 91,300,384 (GRCm39) P462Q probably damaging Het
Itgb2l T A 16: 96,228,049 (GRCm39) I485F probably benign Het
Jakmip3 C T 7: 138,629,505 (GRCm39) R549W possibly damaging Het
Lrrc36 A G 8: 106,187,761 (GRCm39) Q680R probably damaging Het
Lysmd3 T G 13: 81,817,390 (GRCm39) H122Q probably benign Het
Macf1 C A 4: 123,577,802 (GRCm39) V61L possibly damaging Het
Map1b T C 13: 99,568,036 (GRCm39) T1562A unknown Het
Map3k20 A T 2: 72,194,968 (GRCm39) probably benign Het
Mroh8 A G 2: 157,075,125 (GRCm39) V457A probably benign Het
Mrpl40 T A 16: 18,694,159 (GRCm39) probably null Het
Ms4a10 C T 19: 10,941,472 (GRCm39) V166I probably benign Het
Mycl A G 4: 122,894,100 (GRCm39) D300G probably damaging Het
Naca T A 10: 127,879,266 (GRCm39) probably benign Het
Ncoa4 T C 14: 31,895,391 (GRCm39) S172P probably damaging Het
Nfatc3 T C 8: 106,810,486 (GRCm39) F421L possibly damaging Het
Nucb1 C A 7: 45,144,649 (GRCm39) K301N probably benign Het
Or1af1 A G 2: 37,109,966 (GRCm39) H155R probably damaging Het
Or52ae9 A T 7: 103,390,243 (GRCm39) M68K probably benign Het
Or5b99 T A 19: 12,976,815 (GRCm39) I155N possibly damaging Het
Panx1 A T 9: 14,921,341 (GRCm39) V178E possibly damaging Het
Pkd1l3 G A 8: 110,367,402 (GRCm39) V1210I probably damaging Het
Polr2a A T 11: 69,638,039 (GRCm39) H143Q possibly damaging Het
Potefam1 A T 2: 111,048,972 (GRCm39) M269K probably benign Het
Prdm12 G A 2: 31,544,186 (GRCm39) R263H probably damaging Het
Prkdc A C 16: 15,549,430 (GRCm39) K1998T probably damaging Het
Rab11fip1 A T 8: 27,643,051 (GRCm39) S583T probably damaging Het
Rnf157 T A 11: 116,237,921 (GRCm39) T567S probably benign Het
Rp1 T C 1: 4,417,917 (GRCm39) K1065R probably damaging Het
Rp1 A G 1: 4,418,760 (GRCm39) I784T probably benign Het
Rps10 A C 17: 27,850,182 (GRCm39) F150V probably benign Het
Rrp12 A T 19: 41,870,639 (GRCm39) F499I probably damaging Het
Slc25a21 G T 12: 56,904,864 (GRCm39) Q57K probably benign Het
Slc27a2 A G 2: 126,395,234 (GRCm39) T54A possibly damaging Het
Slc9a9 T A 9: 95,111,011 (GRCm39) S610T probably benign Het
Smc1b A T 15: 84,970,335 (GRCm39) S973T probably benign Het
Smc6 G A 12: 11,329,734 (GRCm39) S164N possibly damaging Het
Sp1 A G 15: 102,316,314 (GRCm39) T32A possibly damaging Het
Spen T C 4: 141,202,946 (GRCm39) I1894V probably benign Het
Spen T C 4: 141,203,011 (GRCm39) K1872R possibly damaging Het
Stab1 C A 14: 30,873,541 (GRCm39) probably benign Het
Taar7d T G 10: 23,904,102 (GRCm39) F328C probably damaging Het
Ticam1 A T 17: 56,578,113 (GRCm39) S327R probably benign Het
Tmem248 C T 5: 130,258,295 (GRCm39) probably benign Het
Tom1 T C 8: 75,781,259 (GRCm39) S83P probably damaging Het
Txk T A 5: 72,856,453 (GRCm39) Y446F probably damaging Het
Ubap1l T A 9: 65,279,237 (GRCm39) C179S probably benign Het
Utrn T C 10: 12,331,185 (GRCm39) E474G possibly damaging Het
Vmn2r14 T C 5: 109,363,862 (GRCm39) M685V probably benign Het
Vmn2r7 A T 3: 64,623,881 (GRCm39) Y146* probably null Het
Wdr1 G A 5: 38,697,905 (GRCm39) T220M probably damaging Het
Xpo7 T C 14: 70,915,582 (GRCm39) D726G probably damaging Het
Zbtb14 C G 17: 69,694,759 (GRCm39) I152M probably benign Het
Zbtb3 A G 19: 8,780,771 (GRCm39) D128G probably damaging Het
Zeb1os1 A G 18: 5,583,794 (GRCm39) noncoding transcript Het
Zfp462 T A 4: 55,007,667 (GRCm39) D35E probably damaging Het
Zfp467 A G 6: 48,415,621 (GRCm39) S344P possibly damaging Het
Zfpm1 A T 8: 123,034,285 (GRCm39) D73V possibly damaging Het
Other mutations in Sez6l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01444:Sez6l2 APN 7 126,561,055 (GRCm39) missense possibly damaging 0.91
IGL01710:Sez6l2 APN 7 126,567,388 (GRCm39) missense probably damaging 1.00
IGL02439:Sez6l2 APN 7 126,567,361 (GRCm39) missense probably damaging 0.99
IGL02752:Sez6l2 APN 7 126,552,905 (GRCm39) missense probably damaging 1.00
H8786:Sez6l2 UTSW 7 126,560,955 (GRCm39) missense possibly damaging 0.95
R0783:Sez6l2 UTSW 7 126,566,317 (GRCm39) missense possibly damaging 0.65
R0989:Sez6l2 UTSW 7 126,559,016 (GRCm39) missense probably damaging 1.00
R1148:Sez6l2 UTSW 7 126,560,984 (GRCm39) missense probably damaging 1.00
R1148:Sez6l2 UTSW 7 126,560,984 (GRCm39) missense probably damaging 1.00
R1493:Sez6l2 UTSW 7 126,560,984 (GRCm39) missense probably damaging 1.00
R1704:Sez6l2 UTSW 7 126,557,513 (GRCm39) missense probably damaging 1.00
R1817:Sez6l2 UTSW 7 126,566,291 (GRCm39) missense probably damaging 1.00
R1889:Sez6l2 UTSW 7 126,552,668 (GRCm39) missense probably damaging 1.00
R2509:Sez6l2 UTSW 7 126,552,944 (GRCm39) missense probably benign 0.31
R3772:Sez6l2 UTSW 7 126,558,375 (GRCm39) missense probably damaging 0.99
R4466:Sez6l2 UTSW 7 126,559,023 (GRCm39) missense probably damaging 0.97
R4869:Sez6l2 UTSW 7 126,561,014 (GRCm39) missense probably benign 0.02
R5155:Sez6l2 UTSW 7 126,561,545 (GRCm39) missense probably damaging 0.99
R5416:Sez6l2 UTSW 7 126,561,058 (GRCm39) missense probably damaging 1.00
R5551:Sez6l2 UTSW 7 126,566,002 (GRCm39) missense probably damaging 1.00
R5884:Sez6l2 UTSW 7 126,569,328 (GRCm39) unclassified probably benign
R5903:Sez6l2 UTSW 7 126,569,305 (GRCm39) unclassified probably benign
R6015:Sez6l2 UTSW 7 126,552,625 (GRCm39) missense probably damaging 0.97
R6726:Sez6l2 UTSW 7 126,567,177 (GRCm39) missense probably damaging 0.96
R7094:Sez6l2 UTSW 7 126,552,096 (GRCm39) missense probably damaging 0.99
R7117:Sez6l2 UTSW 7 126,552,915 (GRCm39) missense possibly damaging 0.94
R7228:Sez6l2 UTSW 7 126,552,897 (GRCm39) missense probably damaging 1.00
R7479:Sez6l2 UTSW 7 126,562,831 (GRCm39) missense probably damaging 1.00
R7502:Sez6l2 UTSW 7 126,560,915 (GRCm39) missense probably benign 0.26
R8321:Sez6l2 UTSW 7 126,557,588 (GRCm39) missense probably damaging 0.99
Z1176:Sez6l2 UTSW 7 126,557,503 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GGGCGGATCTAGTTAAGATTGAGCG -3'
(R):5'- ACTCACTCTTTTGGCAGGCAGG -3'

Sequencing Primer
(F):5'- CTAGTTAAGATTGAGCGAGTTGGAC -3'
(R):5'- TGATCCCAGTAGTTCATAGCCAG -3'
Posted On 2014-04-13