Incidental Mutation 'R0427:Armc2'
ID 38760
Institutional Source Beutler Lab
Gene Symbol Armc2
Ensembl Gene ENSMUSG00000071324
Gene Name armadillo repeat containing 2
Synonyms 2610018I05Rik
MMRRC Submission 038629-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0427 (G1)
Quality Score 180
Status Not validated
Chromosome 10
Chromosomal Location 41790986-41894438 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41876406 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 127 (I127T)
Ref Sequence ENSEMBL: ENSMUSP00000125412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095729] [ENSMUST00000160262] [ENSMUST00000161081] [ENSMUST00000161927] [ENSMUST00000162405]
AlphaFold Q3URY6
Predicted Effect possibly damaging
Transcript: ENSMUST00000095729
AA Change: I127T

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000093397
Gene: ENSMUSG00000071324
AA Change: I127T

DomainStartEndE-ValueType
low complexity region 58 73 N/A INTRINSIC
low complexity region 222 237 N/A INTRINSIC
low complexity region 272 281 N/A INTRINSIC
low complexity region 324 336 N/A INTRINSIC
ARM 355 393 7.53e1 SMART
ARM 400 453 3.69e1 SMART
ARM 454 496 8.23e1 SMART
Blast:ARM 497 540 1e-16 BLAST
Blast:ARM 542 603 1e-6 BLAST
Blast:ARM 603 649 7e-20 BLAST
Blast:ARM 653 692 3e-8 BLAST
ARM 693 733 4.41e1 SMART
ARM 734 777 2.7e-1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000160262
AA Change: I127T

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000125412
Gene: ENSMUSG00000071324
AA Change: I127T

DomainStartEndE-ValueType
low complexity region 58 73 N/A INTRINSIC
low complexity region 222 237 N/A INTRINSIC
low complexity region 272 281 N/A INTRINSIC
low complexity region 324 336 N/A INTRINSIC
ARM 355 393 7.53e1 SMART
ARM 400 453 3.69e1 SMART
ARM 454 496 8.23e1 SMART
Blast:ARM 497 540 1e-16 BLAST
Blast:ARM 542 603 1e-6 BLAST
Blast:ARM 603 649 7e-20 BLAST
Blast:ARM 653 692 3e-8 BLAST
ARM 693 733 4.41e1 SMART
ARM 734 777 2.7e-1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000161081
AA Change: I127T

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000125719
Gene: ENSMUSG00000071324
AA Change: I127T

DomainStartEndE-ValueType
low complexity region 58 73 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161927
SMART Domains Protein: ENSMUSP00000124049
Gene: ENSMUSG00000071324

DomainStartEndE-ValueType
low complexity region 58 75 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162405
SMART Domains Protein: ENSMUSP00000125583
Gene: ENSMUSG00000071324

DomainStartEndE-ValueType
low complexity region 58 75 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T G 8: 44,105,493 (GRCm39) T51P probably benign Het
Alpk1 A T 3: 127,464,720 (GRCm39) V1186E probably damaging Het
Ankfn1 T C 11: 89,296,423 (GRCm39) D102G probably damaging Het
Atp6v1b2 T C 8: 69,554,084 (GRCm39) L87P probably damaging Het
Atp9a T A 2: 168,482,617 (GRCm39) probably null Het
BC048679 C G 7: 81,144,993 (GRCm39) V123L probably benign Het
Birc7 G A 2: 180,571,307 (GRCm39) probably null Het
Btbd9 C T 17: 30,493,916 (GRCm39) D492N possibly damaging Het
Cacna1d T A 14: 30,068,774 (GRCm39) N155I probably damaging Het
Cd300lg T C 11: 101,933,852 (GRCm39) V33A probably damaging Het
Cep290 A G 10: 100,352,041 (GRCm39) D742G probably benign Het
Cep95 A G 11: 106,681,578 (GRCm39) N14S probably benign Het
Cfap74 A T 4: 155,525,734 (GRCm39) M728L probably benign Het
Ctsll3 T A 13: 60,949,205 (GRCm39) T9S probably benign Het
Cyp3a44 A G 5: 145,716,412 (GRCm39) S393P possibly damaging Het
Dmbt1 T A 7: 130,642,632 (GRCm39) L150* probably null Het
Dnah2 A G 11: 69,343,705 (GRCm39) I2868T probably damaging Het
Dop1a A G 9: 86,389,585 (GRCm39) H505R probably damaging Het
Exo1 A G 1: 175,733,519 (GRCm39) K781R probably damaging Het
Fam184a A G 10: 53,566,211 (GRCm39) Y459H probably damaging Het
Foxp1 C T 6: 98,907,164 (GRCm39) D540N probably damaging Het
Fstl5 T A 3: 76,615,034 (GRCm39) Y698* probably null Het
Gm5141 T C 13: 62,922,525 (GRCm39) K215E probably damaging Het
Grik5 C A 7: 24,757,923 (GRCm39) R386L probably benign Het
Ikbke A T 1: 131,185,647 (GRCm39) S620R possibly damaging Het
Kcnh3 A T 15: 99,131,180 (GRCm39) M518L probably benign Het
Lrrcc1 G T 3: 14,623,416 (GRCm39) A748S probably damaging Het
Mbd5 T G 2: 49,169,091 (GRCm39) S1191A probably benign Het
Med27 T C 2: 29,390,283 (GRCm39) I70T probably damaging Het
Mplkipl1 A G 19: 61,163,908 (GRCm39) Y176H probably damaging Het
Myh4 A G 11: 67,149,479 (GRCm39) D1737G probably damaging Het
Myo5a A G 9: 75,081,478 (GRCm39) D1021G probably benign Het
Ncor1 T C 11: 62,301,746 (GRCm39) E212G probably damaging Het
Neb A T 2: 52,133,896 (GRCm39) N3362K possibly damaging Het
Neb A G 2: 52,134,081 (GRCm39) S3301P probably damaging Het
Neurod1 T G 2: 79,284,526 (GRCm39) K286Q probably damaging Het
Noc3l T C 19: 38,778,095 (GRCm39) Q773R probably benign Het
Nup205 T A 6: 35,171,398 (GRCm39) N420K probably benign Het
Olfml3 A T 3: 103,644,330 (GRCm39) V113E probably benign Het
Opa1 T C 16: 29,430,279 (GRCm39) V439A probably damaging Het
Or13c7 A G 4: 43,854,417 (GRCm39) Y36C probably damaging Het
Or14j7 A T 17: 38,234,520 (GRCm39) H21L probably benign Het
Or1j14 C T 2: 36,417,994 (GRCm39) S190L probably damaging Het
Or1o11 T A 17: 37,756,593 (GRCm39) D60E probably damaging Het
Pcdhb11 T C 18: 37,555,818 (GRCm39) S383P probably damaging Het
Pkd1 T C 17: 24,812,476 (GRCm39) V3803A probably damaging Het
Plekhg1 A G 10: 3,914,235 (GRCm39) D1319G probably benign Het
Polq T A 16: 36,882,355 (GRCm39) C1227* probably null Het
Pramel22 A T 4: 143,380,993 (GRCm39) N343K probably benign Het
Psmc1 T C 12: 100,085,487 (GRCm39) F283L probably damaging Het
Psmd8 T C 7: 28,875,552 (GRCm39) N189S probably damaging Het
Ptger4 G A 15: 5,272,382 (GRCm39) T104I probably benign Het
Ptpro T G 6: 137,345,294 (GRCm39) V100G possibly damaging Het
Rab11fip1 T A 8: 27,644,520 (GRCm39) T422S probably damaging Het
Rad54l2 A G 9: 106,570,891 (GRCm39) L1143P possibly damaging Het
Rnf148 A G 6: 23,654,072 (GRCm39) M308T probably damaging Het
Sbsn T A 7: 30,451,523 (GRCm39) probably benign Het
Scube2 T A 7: 109,424,044 (GRCm39) T487S probably benign Het
Sema4c C A 1: 36,592,892 (GRCm39) E109* probably null Het
Sipa1l2 A T 8: 126,207,071 (GRCm39) L544Q probably damaging Het
Slc28a2 A G 2: 122,288,702 (GRCm39) T603A probably benign Het
Tbc1d7 T A 13: 43,306,563 (GRCm39) T138S probably benign Het
Timd4 A T 11: 46,710,084 (GRCm39) T239S probably benign Het
Trp53bp1 A G 2: 121,066,498 (GRCm39) S743P probably damaging Het
Tspan10 T A 11: 120,335,120 (GRCm39) Y77N probably damaging Het
Ttc14 T C 3: 33,857,633 (GRCm39) S245P probably damaging Het
Ttf1 T A 2: 28,955,054 (GRCm39) S139R probably benign Het
Tubd1 C A 11: 86,448,616 (GRCm39) Q279K possibly damaging Het
Twnk A G 19: 44,996,026 (GRCm39) E153G probably benign Het
Ush2a A G 1: 188,132,478 (GRCm39) D900G probably damaging Het
Usp54 A G 14: 20,620,432 (GRCm39) V691A probably benign Het
Usp8 T C 2: 126,559,952 (GRCm39) probably benign Het
Vmn1r231 C T 17: 21,110,490 (GRCm39) V142I probably benign Het
Vmn2r15 C T 5: 109,434,953 (GRCm39) A584T probably damaging Het
Vmn2r6 A G 3: 64,467,008 (GRCm39) S164P probably damaging Het
Vps16 A G 2: 130,280,770 (GRCm39) Y233C probably benign Het
Vwf C G 6: 125,650,902 (GRCm39) H2511D probably benign Het
Wipf3 T G 6: 54,460,882 (GRCm39) L110R possibly damaging Het
Zfp945 T A 17: 23,084,226 (GRCm39) N11I probably benign Het
Other mutations in Armc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4131001:Armc2 UTSW 10 41,823,883 (GRCm39) splice site probably benign
R0144:Armc2 UTSW 10 41,823,883 (GRCm39) splice site probably benign
R0540:Armc2 UTSW 10 41,798,691 (GRCm39) missense probably benign 0.11
R0561:Armc2 UTSW 10 41,869,188 (GRCm39) missense probably benign 0.02
R0607:Armc2 UTSW 10 41,798,691 (GRCm39) missense probably benign 0.11
R1099:Armc2 UTSW 10 41,793,183 (GRCm39) missense probably benign 0.39
R1130:Armc2 UTSW 10 41,887,830 (GRCm39) missense possibly damaging 0.85
R2116:Armc2 UTSW 10 41,839,663 (GRCm39) missense probably damaging 0.98
R2870:Armc2 UTSW 10 41,842,696 (GRCm39) critical splice donor site probably null
R2870:Armc2 UTSW 10 41,842,696 (GRCm39) critical splice donor site probably null
R2871:Armc2 UTSW 10 41,842,696 (GRCm39) critical splice donor site probably null
R2871:Armc2 UTSW 10 41,842,696 (GRCm39) critical splice donor site probably null
R2872:Armc2 UTSW 10 41,842,696 (GRCm39) critical splice donor site probably null
R2872:Armc2 UTSW 10 41,842,696 (GRCm39) critical splice donor site probably null
R2873:Armc2 UTSW 10 41,842,696 (GRCm39) critical splice donor site probably null
R3083:Armc2 UTSW 10 41,842,726 (GRCm39) missense probably damaging 1.00
R3771:Armc2 UTSW 10 41,798,223 (GRCm39) missense probably damaging 1.00
R3784:Armc2 UTSW 10 41,798,190 (GRCm39) missense probably benign 0.08
R3880:Armc2 UTSW 10 41,839,721 (GRCm39) missense possibly damaging 0.71
R4024:Armc2 UTSW 10 41,869,054 (GRCm39) missense probably benign
R4155:Armc2 UTSW 10 41,887,863 (GRCm39) missense probably damaging 0.96
R4370:Armc2 UTSW 10 41,793,196 (GRCm39) missense probably benign 0.13
R4378:Armc2 UTSW 10 41,869,078 (GRCm39) missense possibly damaging 0.66
R4896:Armc2 UTSW 10 41,799,790 (GRCm39) missense probably damaging 1.00
R5119:Armc2 UTSW 10 41,798,144 (GRCm39) missense probably damaging 1.00
R5159:Armc2 UTSW 10 41,884,711 (GRCm39) missense probably damaging 0.96
R5517:Armc2 UTSW 10 41,839,846 (GRCm39) missense probably benign 0.29
R5640:Armc2 UTSW 10 41,887,894 (GRCm39) missense possibly damaging 0.87
R5767:Armc2 UTSW 10 41,887,923 (GRCm39) missense probably benign 0.02
R5965:Armc2 UTSW 10 41,798,568 (GRCm39) missense possibly damaging 0.94
R6897:Armc2 UTSW 10 41,869,225 (GRCm39) critical splice acceptor site probably null
R7233:Armc2 UTSW 10 41,799,800 (GRCm39) missense probably damaging 1.00
R7829:Armc2 UTSW 10 41,802,856 (GRCm39) missense probably benign
R7832:Armc2 UTSW 10 41,842,792 (GRCm39) missense probably damaging 1.00
R7999:Armc2 UTSW 10 41,887,954 (GRCm39) missense possibly damaging 0.62
R8029:Armc2 UTSW 10 41,802,996 (GRCm39) missense probably damaging 1.00
R8030:Armc2 UTSW 10 41,842,738 (GRCm39) missense possibly damaging 0.73
R8033:Armc2 UTSW 10 41,884,680 (GRCm39) missense possibly damaging 0.87
R8191:Armc2 UTSW 10 41,839,747 (GRCm39) missense probably benign 0.29
R8304:Armc2 UTSW 10 41,823,935 (GRCm39) missense probably damaging 1.00
R8334:Armc2 UTSW 10 41,799,761 (GRCm39) missense probably damaging 1.00
R8370:Armc2 UTSW 10 41,799,833 (GRCm39) missense possibly damaging 0.96
R9142:Armc2 UTSW 10 41,851,404 (GRCm39) missense probably benign 0.00
R9227:Armc2 UTSW 10 41,823,935 (GRCm39) missense probably damaging 1.00
R9230:Armc2 UTSW 10 41,823,935 (GRCm39) missense probably damaging 1.00
R9320:Armc2 UTSW 10 41,839,774 (GRCm39) missense possibly damaging 0.85
R9708:Armc2 UTSW 10 41,839,744 (GRCm39) missense possibly damaging 0.87
R9743:Armc2 UTSW 10 41,798,598 (GRCm39) missense probably benign 0.25
R9746:Armc2 UTSW 10 41,800,457 (GRCm39) missense probably damaging 1.00
Z1176:Armc2 UTSW 10 41,839,652 (GRCm39) missense probably damaging 1.00
Z1176:Armc2 UTSW 10 41,803,040 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGATATATGCGAGCCACCCATTTG -3'
(R):5'- TGCAGAGGTTCCACTGAGGTCAAG -3'

Sequencing Primer
(F):5'- GTTCATGTAAGAACTATCCAGGACC -3'
(R):5'- TTCCACTGAGGTCAAGCTAAAGTC -3'
Posted On 2013-05-23