Incidental Mutation 'R4155:Armc2'
ID 315097
Institutional Source Beutler Lab
Gene Symbol Armc2
Ensembl Gene ENSMUSG00000071324
Gene Name armadillo repeat containing 2
Synonyms 2610018I05Rik
MMRRC Submission 040999-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4155 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 41790986-41894438 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41887863 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 40 (V40A)
Ref Sequence ENSEMBL: ENSMUSP00000125583 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095729] [ENSMUST00000160262] [ENSMUST00000161081] [ENSMUST00000161927] [ENSMUST00000162405]
AlphaFold Q3URY6
Predicted Effect possibly damaging
Transcript: ENSMUST00000095729
AA Change: V40A

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000093397
Gene: ENSMUSG00000071324
AA Change: V40A

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: V40A

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000125412
Gene: ENSMUSG00000071324
AA Change: V40A

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: V40A

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000125719
Gene: ENSMUSG00000071324
AA Change: V40A

DomainStartEndE-ValueType
low complexity region 58 73 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000161927
AA Change: V40A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000124049
Gene: ENSMUSG00000071324
AA Change: V40A

DomainStartEndE-ValueType
low complexity region 58 75 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000162405
AA Change: V40A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000125583
Gene: ENSMUSG00000071324
AA Change: V40A

DomainStartEndE-ValueType
low complexity region 58 75 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004B18Rik T A 3: 145,644,018 (GRCm39) F69I possibly damaging Het
Akt3 A G 1: 176,924,543 (GRCm39) I184T possibly damaging Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Ash2l A G 8: 26,307,482 (GRCm39) Y485H probably damaging Het
Atr T A 9: 95,770,177 (GRCm39) C1202* probably null Het
Bcl11b A T 12: 107,883,684 (GRCm39) probably null Het
Birc6 C A 17: 74,903,934 (GRCm39) S1242R probably benign Het
Blm GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC GCCTCCTCCTCCTCCTCCTCCTCCTCC 7: 80,162,652 (GRCm39) probably benign Het
Bsx A G 9: 40,787,632 (GRCm39) E102G probably benign Het
Casq2 A T 3: 102,040,418 (GRCm39) probably null Het
Ccpg1 C A 9: 72,919,449 (GRCm39) Q355K probably benign Het
Copa T G 1: 171,928,992 (GRCm39) N251K probably damaging Het
Cst8 C A 2: 148,641,996 (GRCm39) A31E possibly damaging Het
D6Ertd527e C G 6: 87,088,506 (GRCm39) T223S unknown Het
Ecd A G 14: 20,374,632 (GRCm39) S503P probably damaging Het
Fbn2 C A 18: 58,156,359 (GRCm39) E2487* probably null Het
Hoxd9 A G 2: 74,529,667 (GRCm39) I308V probably benign Het
Ica1l G A 1: 60,053,052 (GRCm39) A162V possibly damaging Het
Kcnj15 A T 16: 95,097,166 (GRCm39) K263* probably null Het
Mettl4 T C 17: 95,048,003 (GRCm39) M213V probably benign Het
Nalf1 T A 8: 9,283,023 (GRCm39) Y342F possibly damaging Het
Ncan C A 8: 70,562,727 (GRCm39) E510D possibly damaging Het
Ndufs4 A T 13: 114,444,390 (GRCm39) S129R probably benign Het
Or14a259 T A 7: 86,013,270 (GRCm39) I92L probably benign Het
Or4c127 A G 2: 89,833,004 (GRCm39) S85G probably benign Het
Or52s19 T C 7: 103,008,363 (GRCm39) T13A probably benign Het
Or8d1b A T 9: 38,887,451 (GRCm39) T160S probably damaging Het
P2rx5 A G 11: 73,062,655 (GRCm39) T455A probably damaging Het
Pcdh1 T A 18: 38,336,159 (GRCm39) T159S probably damaging Het
Poln A G 5: 34,166,993 (GRCm39) V755A possibly damaging Het
Pou4f1 C T 14: 104,705,153 (GRCm39) S6N possibly damaging Het
Rpap1 C T 2: 119,604,660 (GRCm39) R416H probably damaging Het
Samd4 T A 14: 47,290,403 (GRCm39) M170K possibly damaging Het
Srgn A G 10: 62,333,613 (GRCm39) F55L possibly damaging Het
Tmcc1 C T 6: 116,110,765 (GRCm39) G176D probably benign Het
Tmem232 A T 17: 65,743,328 (GRCm39) M321K probably damaging Het
Tnfsf11 A G 14: 78,537,309 (GRCm39) M118T probably benign Het
Tns1 T A 1: 73,953,790 (GRCm39) N1848Y probably damaging Het
Ttc27 T G 17: 75,147,455 (GRCm39) I669S probably benign Het
Uaca A G 9: 60,779,035 (GRCm39) S1141G probably benign Het
Usp34 T A 11: 23,367,676 (GRCm39) V1671E probably damaging Het
Wdr64 T A 1: 175,597,172 (GRCm39) L73H probably benign Het
Zfp410 G A 12: 84,374,206 (GRCm39) R181H probably damaging 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
R0427:Armc2 UTSW 10 41,876,406 (GRCm39) missense possibly damaging 0.87
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
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'- CATGATGCATGGGTTAGCAAAG -3'
(R):5'- TACGGATGGGTGCCTCTCTTTC -3'

Sequencing Primer
(F):5'- TGCATGGGTTAGCAAAGGGAAG -3'
(R):5'- GATGGGTGCCTCTCTTTCTAAAATAC -3'
Posted On 2015-05-14