Incidental Mutation 'R1166:Insm2'
ID101036
Institutional Source Beutler Lab
Gene Symbol Insm2
Ensembl Gene ENSMUSG00000045440
Gene Nameinsulinoma-associated 2
Synonymsmlt 1
MMRRC Submission 039239-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.164) question?
Stock #R1166 (G1)
Quality Score150
Status Validated
Chromosome12
Chromosomal Location55599427-55602086 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 55600496 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 342 (S342P)
Ref Sequence ENSEMBL: ENSMUSP00000061046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051857] [ENSMUST00000085385] [ENSMUST00000110687] [ENSMUST00000219432] [ENSMUST00000220367] [ENSMUST00000226244]
Predicted Effect probably benign
Transcript: ENSMUST00000051857
AA Change: S342P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000061046
Gene: ENSMUSG00000045440
AA Change: S342P

DomainStartEndE-ValueType
low complexity region 21 31 N/A INTRINSIC
low complexity region 61 78 N/A INTRINSIC
low complexity region 97 114 N/A INTRINSIC
low complexity region 119 136 N/A INTRINSIC
ZnF_C2H2 203 223 1.98e2 SMART
ZnF_C2H2 231 253 7.15e-2 SMART
low complexity region 341 349 N/A INTRINSIC
ZnF_C2H2 354 376 1.2e-3 SMART
ZnF_C2H2 398 420 1.02e1 SMART
low complexity region 433 448 N/A INTRINSIC
ZnF_C2H2 452 475 4.11e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000085385
SMART Domains Protein: ENSMUSP00000082503
Gene: ENSMUSG00000021027

DomainStartEndE-ValueType
low complexity region 644 651 N/A INTRINSIC
low complexity region 676 690 N/A INTRINSIC
low complexity region 692 704 N/A INTRINSIC
low complexity region 894 915 N/A INTRINSIC
low complexity region 1386 1395 N/A INTRINSIC
low complexity region 1784 1798 N/A INTRINSIC
Pfam:Rap_GAP 1824 2003 7.4e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110687
SMART Domains Protein: ENSMUSP00000106315
Gene: ENSMUSG00000021027

DomainStartEndE-ValueType
low complexity region 644 651 N/A INTRINSIC
low complexity region 676 690 N/A INTRINSIC
low complexity region 692 704 N/A INTRINSIC
low complexity region 894 915 N/A INTRINSIC
low complexity region 1386 1395 N/A INTRINSIC
low complexity region 1784 1798 N/A INTRINSIC
Pfam:Rap_GAP 1824 2001 1.9e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000219432
Predicted Effect probably benign
Transcript: ENSMUST00000219451
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219516
Predicted Effect probably benign
Transcript: ENSMUST00000220367
Predicted Effect probably benign
Transcript: ENSMUST00000226244
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.3%
  • 10x: 95.0%
  • 20x: 86.3%
Validation Efficiency 96% (43/45)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,570,917 K286R probably benign Het
Arhgef10l T C 4: 140,575,270 probably benign Het
Ccdc175 T G 12: 72,105,932 K733T probably damaging Het
Cenpn T G 8: 116,926,207 I39R probably damaging Het
Cfap53 A T 18: 74,300,180 Y112F possibly damaging Het
Cngb1 C A 8: 95,260,181 C361F probably damaging Het
Ctf2 T C 7: 127,719,513 T105A probably benign Het
Dnah7b A T 1: 46,325,810 T3584S probably damaging Het
Ebf3 C T 7: 137,313,167 probably benign Het
Ep300 A G 15: 81,630,064 probably benign Het
Fbxo17 T A 7: 28,733,528 V158E probably damaging Het
Fbxw24 T C 9: 109,606,998 E322G probably benign Het
Gm5698 G T 1: 30,977,285 D228E probably damaging Het
Gm884 A G 11: 103,615,383 S1920P probably benign Het
Hfm1 A T 5: 106,911,411 D248E probably benign Het
Krt36 G A 11: 100,102,828 R395C probably benign Het
Lsm14b T A 2: 180,031,541 probably benign Het
Map1a A G 2: 121,300,260 E519G probably damaging Het
Mfsd14a T C 3: 116,633,894 probably benign Het
Mfsd4b5 T C 10: 39,970,423 Y387C probably damaging Het
Mybpc2 T C 7: 44,505,025 N1063D possibly damaging Het
Nlrp10 T A 7: 108,925,010 H421L probably damaging Het
Nup155 A T 15: 8,157,760 H1391L probably damaging Het
Olfr1254 A G 2: 89,789,331 V7A possibly damaging Het
Pacrg A T 17: 10,403,339 Y235* probably null Het
Pde4dip T A 3: 97,713,196 D1629V possibly damaging Het
Prl8a2 G T 13: 27,353,952 S204I possibly damaging Het
Sec24a A T 11: 51,733,467 M356K possibly damaging Het
Sh3tc2 A C 18: 61,991,176 S972R probably damaging Het
Shc2 C T 10: 79,621,112 V557M probably damaging Het
Slc2a9 A G 5: 38,382,041 probably null Het
Tcaf1 T C 6: 42,678,678 I455V probably benign Het
Umodl1 T G 17: 31,002,798 probably benign Het
Wdr27 T C 17: 14,892,471 T658A probably damaging Het
Zfp318 T C 17: 46,409,692 Y1119H possibly damaging Het
Zfp939 C A 7: 39,473,339 noncoding transcript Het
Other mutations in Insm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
hawaii UTSW 12 55599836 nonsense probably null
R0646:Insm2 UTSW 12 55600440 missense probably benign 0.19
R2508:Insm2 UTSW 12 55600311 missense probably benign 0.00
R3978:Insm2 UTSW 12 55600838 missense probably benign 0.00
R4716:Insm2 UTSW 12 55600892 missense possibly damaging 0.93
R4884:Insm2 UTSW 12 55599761 missense probably damaging 1.00
R5154:Insm2 UTSW 12 55600197 missense probably damaging 1.00
R6067:Insm2 UTSW 12 55600014 missense probably damaging 1.00
R6078:Insm2 UTSW 12 55600014 missense probably damaging 1.00
R6138:Insm2 UTSW 12 55600014 missense probably damaging 1.00
R6424:Insm2 UTSW 12 55600082 missense probably damaging 1.00
R6969:Insm2 UTSW 12 55600178 missense probably damaging 1.00
R7069:Insm2 UTSW 12 55599836 nonsense probably null
R7117:Insm2 UTSW 12 55600572 missense probably damaging 1.00
R7252:Insm2 UTSW 12 55600520 missense probably benign 0.00
R7289:Insm2 UTSW 12 55600544 missense probably damaging 0.99
R7537:Insm2 UTSW 12 55599518 missense possibly damaging 0.95
R7831:Insm2 UTSW 12 55600538 missense probably damaging 1.00
R7914:Insm2 UTSW 12 55600538 missense probably damaging 1.00
U15987:Insm2 UTSW 12 55600014 missense probably damaging 1.00
Z1088:Insm2 UTSW 12 55599797 missense probably damaging 1.00
Z1177:Insm2 UTSW 12 55600356 missense probably benign
Predicted Primers
Posted On2014-01-15