Incidental Mutation 'R5021:Itm2c'
ID 389175
Institutional Source Beutler Lab
Gene Symbol Itm2c
Ensembl Gene ENSMUSG00000026223
Gene Name integral membrane protein 2C
Synonyms ITM3, Bricd2c, 3110038L02Rik, BRI3
MMRRC Submission 042612-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.193) question?
Stock # R5021 (G1)
Quality Score 203
Status Validated
Chromosome 1
Chromosomal Location 85822231-85836419 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85833059 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 131 (I131T)
Ref Sequence ENSEMBL: ENSMUSP00000140692 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027425] [ENSMUST00000185569]
AlphaFold Q91VK4
Predicted Effect probably damaging
Transcript: ENSMUST00000027425
AA Change: I131T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000027425
Gene: ENSMUSG00000026223
AA Change: I131T

DomainStartEndE-ValueType
low complexity region 9 34 N/A INTRINSIC
transmembrane domain 60 82 N/A INTRINSIC
BRICHOS 138 232 1.28e-35 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139837
Predicted Effect probably damaging
Transcript: ENSMUST00000185569
AA Change: I131T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140692
Gene: ENSMUSG00000026223
AA Change: I131T

DomainStartEndE-ValueType
low complexity region 9 34 N/A INTRINSIC
transmembrane domain 60 82 N/A INTRINSIC
BRICHOS 138 195 9.9e-6 SMART
Meta Mutation Damage Score 0.9239 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 89.8%
Validation Efficiency 95% (39/41)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano5 A T 7: 51,205,933 (GRCm39) T242S probably benign Het
B3gnt4 G C 5: 123,649,010 (GRCm39) R125P probably damaging Het
Blvrb A C 7: 27,147,543 (GRCm39) M1L probably benign Het
Cep112 T A 11: 108,361,154 (GRCm39) H169Q possibly damaging Het
Clcn1 A T 6: 42,287,922 (GRCm39) K718* probably null Het
Clhc1 A G 11: 29,510,627 (GRCm39) N226S probably benign Het
Cpne1 T C 2: 155,940,193 (GRCm39) probably benign Het
Cspg4 G A 9: 56,805,014 (GRCm39) V1942I probably benign Het
Decr2 A T 17: 26,301,980 (GRCm39) L250Q probably damaging Het
Depdc5 A G 5: 33,136,758 (GRCm39) T1343A probably damaging Het
Eed A T 7: 89,621,513 (GRCm39) L45M probably damaging Het
Ep300 T A 15: 81,524,224 (GRCm39) S1351T unknown Het
Fam184b T A 5: 45,730,604 (GRCm39) Q476L probably benign Het
Gm10722 A C 9: 3,001,041 (GRCm39) Y39S probably benign Het
Herc1 A T 9: 66,377,608 (GRCm39) K3458M possibly damaging Het
Ift122 A G 6: 115,841,333 (GRCm39) D39G probably benign Het
Igf2bp1 A G 11: 95,864,832 (GRCm39) Y206H probably damaging Het
Ighv1-19 T C 12: 114,672,686 (GRCm39) I6V probably benign Het
Kcnd3 A T 3: 105,566,070 (GRCm39) D417V probably damaging Het
Klf4 T C 4: 55,530,970 (GRCm39) E38G probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lct T C 1: 128,228,302 (GRCm39) M1064V probably benign Het
Map4 C T 9: 109,867,157 (GRCm39) Q265* probably null Het
Mcf2l T G 8: 13,061,808 (GRCm39) V893G probably damaging Het
Mlst8 C T 17: 24,696,193 (GRCm39) D179N possibly damaging Het
Mup6 T A 4: 59,964,352 (GRCm39) N18K probably damaging Het
Nbeal2 G A 9: 110,466,531 (GRCm39) R764W probably damaging Het
Ncoa6 A T 2: 155,248,869 (GRCm39) S1478R probably benign Het
Pcdhga1 C A 18: 37,796,876 (GRCm39) R627S probably damaging Het
Sacm1l A G 9: 123,411,393 (GRCm39) D394G probably damaging Het
Schip1 A G 3: 68,402,585 (GRCm39) T221A probably benign Het
Slc35c1 A G 2: 92,289,366 (GRCm39) Y47H possibly damaging Het
Tspan32 A G 7: 142,568,715 (GRCm39) D70G probably damaging Het
Vmn2r68 T C 7: 84,882,942 (GRCm39) Y270C possibly damaging Het
Zfp777 A G 6: 48,019,061 (GRCm39) V291A probably damaging Het
Other mutations in Itm2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02547:Itm2c APN 1 85,834,182 (GRCm39) missense probably damaging 1.00
R0322:Itm2c UTSW 1 85,834,751 (GRCm39) missense probably damaging 1.00
R4273:Itm2c UTSW 1 85,834,750 (GRCm39) missense probably damaging 1.00
R5026:Itm2c UTSW 1 85,834,213 (GRCm39) missense probably damaging 1.00
R5211:Itm2c UTSW 1 85,834,249 (GRCm39) missense probably damaging 1.00
R5578:Itm2c UTSW 1 85,830,774 (GRCm39) missense possibly damaging 0.63
R6137:Itm2c UTSW 1 85,822,413 (GRCm39) missense probably benign 0.08
R7027:Itm2c UTSW 1 85,834,206 (GRCm39) missense probably benign 0.04
R7912:Itm2c UTSW 1 85,833,032 (GRCm39) missense probably damaging 1.00
R8240:Itm2c UTSW 1 85,822,457 (GRCm39) missense probably benign 0.02
R9372:Itm2c UTSW 1 85,833,055 (GRCm39) missense probably damaging 1.00
R9493:Itm2c UTSW 1 85,834,255 (GRCm39) critical splice donor site probably null
Z1176:Itm2c UTSW 1 85,834,248 (GRCm39) missense possibly damaging 0.59
Predicted Primers PCR Primer
(F):5'- CACTACCCTGTGTGACCATCTG -3'
(R):5'- GCAGTATCTGAAGGCCAGTC -3'

Sequencing Primer
(F):5'- GTGTGACCATCTGTCTCTCC -3'
(R):5'- GGTGACCAAAGATACCTGCTGC -3'
Posted On 2016-06-06