Incidental Mutation 'R4938:Insyn2b'
ID 382855
Institutional Source Beutler Lab
Gene Symbol Insyn2b
Ensembl Gene ENSMUSG00000069911
Gene Name inhibitory synaptic factor family member 2B
Synonyms Fam196b, Gm6041
MMRRC Submission 042537-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R4938 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 34264822-34372642 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 34352231 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 91 (G91E)
Ref Sequence ENSEMBL: ENSMUSP00000129183 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093192] [ENSMUST00000093193] [ENSMUST00000101364] [ENSMUST00000101365] [ENSMUST00000165963]
AlphaFold Q6GQV1
Predicted Effect probably damaging
Transcript: ENSMUST00000093192
AA Change: G91E

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000090883
Gene: ENSMUSG00000069911
AA Change: G91E

DomainStartEndE-ValueType
Pfam:FAM196 1 535 3.6e-196 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000093193
SMART Domains Protein: ENSMUSP00000090884
Gene: ENSMUSG00000020143

DomainStartEndE-ValueType
SH3 11 68 1.22e-11 SMART
Pfam:DOCK_N 71 414 2e-113 PFAM
Pfam:DOCK-C2 419 616 1e-60 PFAM
Pfam:DHR-2 1114 1614 6.3e-96 PFAM
low complexity region 1691 1706 N/A INTRINSIC
low complexity region 1793 1800 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000101364
Predicted Effect probably benign
Transcript: ENSMUST00000101365
SMART Domains Protein: ENSMUSP00000098916
Gene: ENSMUSG00000020143

DomainStartEndE-ValueType
SH3 11 68 1.22e-11 SMART
Pfam:DOCK_N 71 414 1.4e-113 PFAM
Pfam:DOCK-C2 419 616 5.5e-61 PFAM
low complexity region 1163 1171 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000165963
AA Change: G91E

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000129183
Gene: ENSMUSG00000069911
AA Change: G91E

DomainStartEndE-ValueType
Pfam:FAM196 3 535 1.3e-168 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 99% (74/75)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl14ep G T 2: 106,799,663 (GRCm39) H59Q probably damaging Het
Atp6v0a4 T A 6: 38,055,749 (GRCm39) I321F possibly damaging Het
Cdr2l A G 11: 115,284,651 (GRCm39) D329G possibly damaging Het
Cep55 A G 19: 38,058,364 (GRCm39) E319G probably damaging Het
Cfhr2 C T 1: 139,741,265 (GRCm39) V237I probably benign Het
Clasrp A G 7: 19,318,703 (GRCm39) probably null Het
Col12a1 C A 9: 79,607,632 (GRCm39) E399* probably null Het
Cyp19a1 T A 9: 54,080,647 (GRCm39) I237F probably benign Het
Dnajc6 T G 4: 101,494,010 (GRCm39) N847K probably damaging Het
E330013P04Rik C G 19: 60,150,453 (GRCm39) noncoding transcript Het
Entpd2 A G 2: 25,289,429 (GRCm39) T304A probably benign Het
Etl4 A G 2: 20,803,460 (GRCm39) T779A probably benign Het
Fam107b A T 2: 3,773,907 (GRCm39) I35L probably benign Het
Fgg A T 3: 82,920,175 (GRCm39) Y318F probably benign Het
Fitm1 A C 14: 55,814,076 (GRCm39) T191P probably damaging Het
Fras1 A G 5: 96,924,583 (GRCm39) M3675V probably damaging Het
Fry C T 5: 150,401,454 (GRCm39) R731W probably damaging Het
Galnt17 A T 5: 131,335,237 (GRCm39) S68T probably benign Het
Glp2r G T 11: 67,648,419 (GRCm39) Y94* probably null Het
Grm1 C T 10: 10,812,257 (GRCm39) A256T probably damaging Het
Hoxd13 A G 2: 74,499,027 (GRCm39) Y125C probably benign Het
Hspa14 A T 2: 3,492,646 (GRCm39) I373K probably benign Het
Ifnlr1 A G 4: 135,432,593 (GRCm39) E343G probably benign Het
Ighv5-9 A G 12: 113,625,582 (GRCm39) S54P probably benign Het
Irf2bpl A G 12: 86,928,892 (GRCm39) S594P possibly damaging Het
Kcnq2 A G 2: 180,728,766 (GRCm39) S548P probably damaging Het
Lrp2 G A 2: 69,302,712 (GRCm39) R3006W probably damaging Het
Lrrc4c A T 2: 97,459,646 (GRCm39) I91F probably damaging Het
Mdh1b T C 1: 63,750,663 (GRCm39) D435G probably benign Het
Mettl3 A T 14: 52,537,184 (GRCm39) S182T probably damaging Het
Mllt6 A G 11: 97,569,233 (GRCm39) T862A probably benign Het
Mmp27 G T 9: 7,578,983 (GRCm39) R412I probably damaging Het
Mstn A G 1: 53,105,582 (GRCm39) N308S possibly damaging Het
Ncapg A G 5: 45,828,551 (GRCm39) T101A probably benign Het
Ngf C T 3: 102,427,790 (GRCm39) R180W probably damaging Het
Notch1 G A 2: 26,364,136 (GRCm39) Q862* probably null Het
Nsrp1 T C 11: 76,936,570 (GRCm39) D542G probably damaging Het
Nup214 C A 2: 31,873,171 (GRCm39) T255K probably benign Het
Or5b21 T A 19: 12,839,916 (GRCm39) M259K probably damaging Het
Or8b43 T A 9: 38,360,679 (GRCm39) D170E probably benign Het
Papln C T 12: 83,829,677 (GRCm39) P911S probably benign Het
Pdxdc1 A G 16: 13,693,933 (GRCm39) V163A probably benign Het
Plekhj1 A T 10: 80,633,609 (GRCm39) I76N probably damaging Het
Pnp2 A G 14: 51,201,025 (GRCm39) probably null Het
Polr3gl T C 3: 96,487,208 (GRCm39) E89G probably benign Het
Polrmt A G 10: 79,582,385 (GRCm39) M1T probably null Het
Prss37 A G 6: 40,491,917 (GRCm39) I221T possibly damaging Het
Ptx4 C T 17: 25,342,139 (GRCm39) Q205* probably null Het
Qsox1 T C 1: 155,655,414 (GRCm39) E583G probably benign Het
Riok3 T A 18: 12,288,300 (GRCm39) N492K probably benign Het
Sec13 A G 6: 113,712,153 (GRCm39) W61R probably damaging Het
Slc20a2 T C 8: 23,051,221 (GRCm39) V418A possibly damaging Het
Smad9 G A 3: 54,696,651 (GRCm39) V239I probably benign Het
Stmn2 A G 3: 8,610,792 (GRCm39) E92G probably damaging Het
Taf1c A G 8: 120,325,537 (GRCm39) V775A probably benign Het
Thsd7a T A 6: 12,330,991 (GRCm39) I1384L probably benign Het
Tnxb A G 17: 34,932,606 (GRCm39) Y2275C probably damaging Het
Trmo G T 4: 46,382,388 (GRCm39) T243N probably benign Het
Tyrp1 C T 4: 80,758,883 (GRCm39) A252V probably damaging Het
Vasp T C 7: 18,991,642 (GRCm39) *376W probably null Het
Vmn1r231 T C 17: 21,110,613 (GRCm39) I101V possibly damaging Het
Zfp532 T C 18: 65,756,837 (GRCm39) S257P probably benign Het
Zfp563 G A 17: 33,324,683 (GRCm39) C426Y probably damaging Het
Zfp647 TGCACG TGCACGCACG 15: 76,795,244 (GRCm39) probably null Het
Zfp703 C A 8: 27,469,801 (GRCm39) H488Q probably damaging Het
Zfp964 A G 8: 70,116,758 (GRCm39) N452D possibly damaging Het
Zfyve28 A C 5: 34,390,698 (GRCm39) Y188D probably damaging Het
Other mutations in Insyn2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00897:Insyn2b APN 11 34,353,011 (GRCm39) missense probably benign
IGL01867:Insyn2b APN 11 34,353,065 (GRCm39) missense probably benign 0.39
PIT4677001:Insyn2b UTSW 11 34,353,122 (GRCm39) missense probably benign
R0317:Insyn2b UTSW 11 34,352,826 (GRCm39) missense possibly damaging 0.94
R1165:Insyn2b UTSW 11 34,352,740 (GRCm39) missense probably benign
R1710:Insyn2b UTSW 11 34,354,263 (GRCm39) splice site probably null
R2083:Insyn2b UTSW 11 34,352,141 (GRCm39) missense probably benign 0.01
R2096:Insyn2b UTSW 11 34,352,936 (GRCm39) missense probably benign 0.03
R3820:Insyn2b UTSW 11 34,353,007 (GRCm39) missense probably benign 0.01
R3821:Insyn2b UTSW 11 34,353,007 (GRCm39) missense probably benign 0.01
R3822:Insyn2b UTSW 11 34,353,007 (GRCm39) missense probably benign 0.01
R3969:Insyn2b UTSW 11 34,369,739 (GRCm39) missense probably damaging 0.99
R3970:Insyn2b UTSW 11 34,369,739 (GRCm39) missense probably damaging 0.99
R3980:Insyn2b UTSW 11 34,352,678 (GRCm39) missense probably benign 0.00
R4092:Insyn2b UTSW 11 34,351,935 (GRCm39) start gained probably benign
R4231:Insyn2b UTSW 11 34,353,143 (GRCm39) missense probably benign 0.01
R4678:Insyn2b UTSW 11 34,353,227 (GRCm39) missense probably damaging 1.00
R4859:Insyn2b UTSW 11 34,353,154 (GRCm39) missense probably benign 0.31
R5269:Insyn2b UTSW 11 34,352,788 (GRCm39) missense probably damaging 1.00
R5287:Insyn2b UTSW 11 34,353,058 (GRCm39) missense probably benign 0.12
R5358:Insyn2b UTSW 11 34,352,788 (GRCm39) missense probably damaging 1.00
R5359:Insyn2b UTSW 11 34,352,788 (GRCm39) missense probably damaging 1.00
R5361:Insyn2b UTSW 11 34,352,788 (GRCm39) missense probably damaging 1.00
R5362:Insyn2b UTSW 11 34,352,788 (GRCm39) missense probably damaging 1.00
R5363:Insyn2b UTSW 11 34,352,788 (GRCm39) missense probably damaging 1.00
R5403:Insyn2b UTSW 11 34,353,058 (GRCm39) missense probably benign 0.12
R5705:Insyn2b UTSW 11 34,354,349 (GRCm39) missense probably damaging 1.00
R6282:Insyn2b UTSW 11 34,352,819 (GRCm39) missense possibly damaging 0.77
R7030:Insyn2b UTSW 11 34,352,030 (GRCm39) missense probably damaging 0.96
R7069:Insyn2b UTSW 11 34,352,677 (GRCm39) missense possibly damaging 0.48
R7178:Insyn2b UTSW 11 34,352,359 (GRCm39) missense probably damaging 0.96
R7180:Insyn2b UTSW 11 34,369,873 (GRCm39) missense probably damaging 1.00
R7718:Insyn2b UTSW 11 34,352,539 (GRCm39) missense probably benign 0.00
R7789:Insyn2b UTSW 11 34,352,537 (GRCm39) missense probably benign
R7832:Insyn2b UTSW 11 34,353,034 (GRCm39) missense probably benign
R8377:Insyn2b UTSW 11 34,351,964 (GRCm39) missense probably damaging 1.00
R8930:Insyn2b UTSW 11 34,352,707 (GRCm39) missense probably benign 0.00
R8932:Insyn2b UTSW 11 34,352,707 (GRCm39) missense probably benign 0.00
R9407:Insyn2b UTSW 11 34,352,072 (GRCm39) missense probably damaging 0.99
Z1177:Insyn2b UTSW 11 34,353,188 (GRCm39) missense probably damaging 1.00
Z1177:Insyn2b UTSW 11 34,352,725 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GCTTGTGAAACAACCGCACC -3'
(R):5'- CATCCTCAAGATGCTGAGCCAG -3'

Sequencing Primer
(F):5'- CGCAGGAGCAAATCGCAGC -3'
(R):5'- TGAGCCAGCCTCAGGAAG -3'
Posted On 2016-04-27