Incidental Mutation 'R4273:Itm2c'
ID 322246
Institutional Source Beutler Lab
Gene Symbol Itm2c
Ensembl Gene ENSMUSG00000026223
Gene Name integral membrane protein 2C
Synonyms 3110038L02Rik, Bricd2c, BRI3, ITM3
MMRRC Submission 041645-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.213) question?
Stock # R4273 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 85894281-85908675 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85907029 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 160 (T160A)
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: T197A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000027425
Gene: ENSMUSG00000026223
AA Change: T197A

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: T160A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140692
Gene: ENSMUSG00000026223
AA Change: T160A

DomainStartEndE-ValueType
low complexity region 9 34 N/A INTRINSIC
transmembrane domain 60 82 N/A INTRINSIC
BRICHOS 138 195 9.9e-6 SMART
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acer2 T A 4: 86,874,598 probably null Het
Adgrf2 T A 17: 42,710,122 T604S probably damaging Het
Akap8l T A 17: 32,321,931 K533* probably null Het
Appbp2 T C 11: 85,234,676 Y45C probably damaging Het
Arap2 T C 5: 62,670,979 I950V possibly damaging Het
Arhgap31 T C 16: 38,602,335 E1123G possibly damaging Het
Atp2c1 G T 9: 105,435,140 N493K probably benign Het
Bcr T C 10: 75,125,111 I458T probably damaging Het
Brd4 G A 17: 32,214,782 T468I probably benign Het
Cdh23 T A 10: 60,311,161 D2774V possibly damaging Het
Cfdp1 T C 8: 111,768,785 Y267C probably damaging Het
Chd6 C A 2: 160,961,291 A2156S probably benign Het
Dazap2 C A 15: 100,618,090 P100T probably damaging Het
Disp1 T A 1: 183,087,644 I1071F possibly damaging Het
Dlgap1 T A 17: 70,766,043 S686T probably benign Het
Dst C T 1: 34,192,340 R3183C possibly damaging Het
Enpp4 T C 17: 44,101,807 N279D probably benign Het
Exoc3l T C 8: 105,289,961 *740W probably null Het
Exoc5 A T 14: 49,015,480 C625* probably null Het
Fam98b A T 2: 117,260,231 N137Y possibly damaging Het
Fat4 T A 3: 38,891,627 D1556E probably damaging Het
Fcer2a C A 8: 3,682,848 V319L possibly damaging Het
Fer1l6 T C 15: 58,627,522 V1247A probably benign Het
Fmo4 A G 1: 162,805,179 V201A probably damaging Het
Fras1 G A 5: 96,614,904 G755D probably benign Het
Gm13078 A T 4: 143,726,846 K175* probably null Het
Grid2 T C 6: 63,909,045 Y142H probably damaging Het
Hspg2 C T 4: 137,518,940 R1010C probably damaging Het
Ibtk T C 9: 85,726,731 Q376R probably damaging Het
Impdh2 T C 9: 108,564,956 M414T probably damaging Het
Kcna2 T A 3: 107,105,193 D363E probably benign Het
Lama2 C T 10: 27,347,054 C412Y probably damaging Het
Lims2 C G 18: 31,956,337 T151S probably benign Het
Mier1 T C 4: 103,162,431 S423P possibly damaging Het
Mrgpra3 A T 7: 47,589,432 W249R probably benign Het
Mtor A G 4: 148,550,152 H2410R probably benign Het
Mvp C T 7: 126,989,703 A631T probably benign Het
Nepro T C 16: 44,735,829 V450A possibly damaging Het
Ngrn T C 7: 80,264,521 V140A probably damaging Het
Nobox T C 6: 43,306,008 E231G probably benign Het
Olfr129 A T 17: 38,055,272 I98N probably damaging Het
P3h2 T A 16: 26,105,221 I155F probably benign Het
Pcdha3 C T 18: 36,948,091 R629C probably damaging Het
Riok3 AGAAGCGG AG 18: 12,135,941 probably benign Het
Rttn T C 18: 89,091,896 I1675T probably benign Het
Sall2 C A 14: 52,313,803 R643L probably damaging Het
Slc35f4 G T 14: 49,304,301 T182N possibly damaging Het
Slc52a3 T A 2: 152,005,740 I256N possibly damaging Het
Sox9 T C 11: 112,785,154 S390P possibly damaging Het
Tango2 T C 16: 18,302,790 probably benign Het
Tas1r1 T C 4: 152,032,157 E340G possibly damaging Het
Tek G A 4: 94,829,970 G524R probably damaging Het
Tmem260 A T 14: 48,505,304 Y532F probably benign Het
Tsks C A 7: 44,957,929 L559I probably damaging Het
Unc79 C A 12: 103,122,353 L1702I probably damaging Het
Vmn1r14 T A 6: 57,234,148 I237N probably damaging Het
Vmn2r17 G A 5: 109,452,966 C710Y probably benign Het
Zfp119b G T 17: 55,938,926 T420K possibly damaging Het
Zfp202 C T 9: 40,207,494 R68* probably null Het
Zfp229 T A 17: 21,746,821 S677R probably benign Het
Zfp462 C T 4: 55,008,411 H126Y probably benign Het
Zfp52 C A 17: 21,560,197 Y102* probably null Het
Zfp616 T A 11: 74,083,700 M265K probably benign Het
Zfyve9 A T 4: 108,680,976 I1031N probably damaging Het
Zmynd11 T C 13: 9,697,690 Y203C probably damaging Het
Other mutations in Itm2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02547:Itm2c APN 1 85906461 missense probably damaging 1.00
R0322:Itm2c UTSW 1 85907030 missense probably damaging 1.00
R5021:Itm2c UTSW 1 85905338 missense probably damaging 1.00
R5026:Itm2c UTSW 1 85906492 missense probably damaging 1.00
R5211:Itm2c UTSW 1 85906528 missense probably damaging 1.00
R5578:Itm2c UTSW 1 85903053 missense possibly damaging 0.63
R6137:Itm2c UTSW 1 85894692 missense probably benign 0.08
R7027:Itm2c UTSW 1 85906485 missense probably benign 0.04
R7912:Itm2c UTSW 1 85905311 missense probably damaging 1.00
R8240:Itm2c UTSW 1 85894736 missense probably benign 0.02
R9372:Itm2c UTSW 1 85905334 missense probably damaging 1.00
R9493:Itm2c UTSW 1 85906534 critical splice donor site probably null
Z1176:Itm2c UTSW 1 85906527 missense possibly damaging 0.59
Predicted Primers PCR Primer
(F):5'- TTAGGTTGGAGGCCAGACATG -3'
(R):5'- AGGCCAGATACTGTCAAAGGC -3'

Sequencing Primer
(F):5'- CCAAAGCTTGGCACAGTTG -3'
(R):5'- ATACTGTCAAAGGCTGGCTG -3'
Posted On 2015-06-20