Incidental Mutation 'R3822:Insyn2b'
ID 275234
Institutional Source Beutler Lab
Gene Symbol Insyn2b
Ensembl Gene ENSMUSG00000069911
Gene Name inhibitory synaptic factor family member 2B
Synonyms Fam196b, Gm6041
MMRRC Submission 040884-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R3822 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 34264822-34372642 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34353007 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 350 (S350P)
Ref Sequence ENSEMBL: ENSMUSP00000129183 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093192] [ENSMUST00000093193] [ENSMUST00000101364] [ENSMUST00000101365] [ENSMUST00000165963]
AlphaFold Q6GQV1
Predicted Effect probably benign
Transcript: ENSMUST00000093192
AA Change: S350P

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000090883
Gene: ENSMUSG00000069911
AA Change: S350P

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 benign
Transcript: ENSMUST00000165963
AA Change: S350P

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000129183
Gene: ENSMUSG00000069911
AA Change: S350P

DomainStartEndE-ValueType
Pfam:FAM196 3 535 1.3e-168 PFAM
Meta Mutation Damage Score 0.0702 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 100% (34/34)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 T A 11: 101,301,971 (GRCm39) I332F probably damaging Het
Acp3 G T 9: 104,201,916 (GRCm39) Q76K probably damaging Het
Anp32e A T 3: 95,842,181 (GRCm39) I100L probably benign Het
Ccdc13 C A 9: 121,660,085 (GRCm39) L76F probably damaging Het
Cd44 T C 2: 102,731,738 (GRCm39) probably null Het
Chka A G 19: 3,932,038 (GRCm39) probably benign Het
Cnot6 A T 11: 49,579,999 (GRCm39) S98T probably benign Het
Cth A G 3: 157,624,136 (GRCm39) F127S probably benign Het
Dnah9 C A 11: 65,741,829 (GRCm39) probably null Het
Dysf T C 6: 84,184,070 (GRCm39) probably benign Het
Flad1 T A 3: 89,318,494 (GRCm39) I20F probably damaging Het
Gm20730 C T 6: 43,058,656 (GRCm39) S52N probably benign Het
Gpr89 A G 3: 96,800,260 (GRCm39) S113P probably benign Het
Herpud2 G A 9: 25,036,220 (GRCm39) Q147* probably null Het
Hivep1 A T 13: 42,337,787 (GRCm39) H2622L possibly damaging Het
Hlcs T C 16: 94,068,840 (GRCm39) N274D probably benign Het
Ido2 T C 8: 25,023,771 (GRCm39) I356V probably benign Het
Itgam A G 7: 127,711,458 (GRCm39) probably null Het
Lama1 C A 17: 68,086,041 (GRCm39) probably null Het
Lrrc4b T A 7: 44,111,982 (GRCm39) V618E probably damaging Het
Man1a2 A G 3: 100,539,913 (GRCm39) I176T possibly damaging Het
Mns1 A G 9: 72,346,730 (GRCm39) E71G probably damaging Het
Ncoa6 T A 2: 155,248,858 (GRCm39) N1482I probably damaging Het
Neto2 C A 8: 86,389,924 (GRCm39) E180* probably null Het
Psmb7 A T 2: 38,503,440 (GRCm39) probably benign Het
Rin2 C T 2: 145,664,550 (GRCm39) T60M probably benign Het
Slc28a3 A G 13: 58,706,092 (GRCm39) V639A probably benign Het
Tenm2 A T 11: 35,915,147 (GRCm39) I2129N probably damaging Het
Topaz1 A G 9: 122,626,848 (GRCm39) D1492G possibly damaging Het
Trank1 G A 9: 111,207,887 (GRCm39) G1711R probably damaging Het
Trpm1 A G 7: 63,867,451 (GRCm39) probably benign Het
Ugt1a6a T A 1: 88,066,251 (GRCm39) V19E probably benign Het
Vmn2r60 A T 7: 41,785,125 (GRCm39) E112D probably damaging Het
Wdr4 T G 17: 31,731,195 (GRCm39) Q55P probably damaging Het
Xpnpep1 G A 19: 52,992,250 (GRCm39) probably benign Het
Zfyve16 A T 13: 92,657,769 (GRCm39) L714Q 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
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
R4938:Insyn2b UTSW 11 34,352,231 (GRCm39) missense probably damaging 0.98
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'- AAAGACCTTGGCCTTCCATCATC -3'
(R):5'- TCCTCTACTGATTGCAGCCG -3'

Sequencing Primer
(F):5'- CTCAGTCAAAGAAGATGTGTGTTCCC -3'
(R):5'- AGGTCACAGAGCTCTCCCTG -3'
Posted On 2015-04-02