Incidental Mutation 'R4378:Armc2'
ID 325200
Institutional Source Beutler Lab
Gene Symbol Armc2
Ensembl Gene ENSMUSG00000071324
Gene Name armadillo repeat containing 2
Synonyms 2610018I05Rik
MMRRC Submission 041121-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4378 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 41790986-41894438 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 41869078 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 29 (T29A)
Ref Sequence ENSEMBL: ENSMUSP00000125635 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095729] [ENSMUST00000160262] [ENSMUST00000161167] [ENSMUST00000161927]
AlphaFold Q3URY6
Predicted Effect probably benign
Transcript: ENSMUST00000095729
AA Change: T203A

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000093397
Gene: ENSMUSG00000071324
AA Change: T203A

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 probably benign
Transcript: ENSMUST00000160262
AA Change: T203A

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000125412
Gene: ENSMUSG00000071324
AA Change: T203A

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: ENSMUST00000161167
AA Change: T29A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000161927
SMART Domains Protein: ENSMUSP00000124049
Gene: ENSMUSG00000071324

DomainStartEndE-ValueType
low complexity region 58 75 N/A INTRINSIC
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 96% (47/49)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,243,644 (GRCm39) K1836E probably benign Het
Adora1 A G 1: 134,130,948 (GRCm39) F241S probably damaging Het
Akt1s1 C T 7: 44,503,384 (GRCm39) T168M probably damaging Het
Amigo1 C T 3: 108,099,069 (GRCm39) probably benign Het
Amigo2 A G 15: 97,143,859 (GRCm39) F188L possibly damaging Het
Axl G A 7: 25,458,262 (GRCm39) A822V probably benign Het
Borcs5 T C 6: 134,621,292 (GRCm39) V21A probably benign Het
Cdc42ep3 A G 17: 79,642,408 (GRCm39) S171P probably benign Het
Cmas T C 6: 142,718,011 (GRCm39) probably benign Het
Cyp4f40 A G 17: 32,887,003 (GRCm39) N158S probably null Het
Dnah6 G T 6: 73,095,009 (GRCm39) N2139K probably benign Het
Elmo1 A T 13: 20,557,286 (GRCm39) H409L possibly damaging Het
Exoc1l A G 5: 76,648,380 (GRCm39) K62R probably damaging Het
Exoc4 T A 6: 33,792,622 (GRCm39) V584E probably damaging Het
Gm9116 A G 3: 93,817,786 (GRCm39) noncoding transcript Het
Gxylt2 A G 6: 100,710,161 (GRCm39) S101G probably benign Het
Hsph1 C A 5: 149,559,472 (GRCm39) E24* probably null Het
Ighv1-56 C T 12: 115,206,568 (GRCm39) E50K probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lrriq1 A T 10: 103,038,225 (GRCm39) D859E probably damaging Het
Mapk7 G A 11: 61,384,493 (GRCm39) S71L probably damaging Het
Nars1 A G 18: 64,634,424 (GRCm39) Y500H probably damaging Het
Or1j1 T C 2: 36,702,481 (GRCm39) M208V probably benign Het
Or5d20-ps1 G T 2: 87,931,829 (GRCm39) N167K unknown Het
Phc1 T C 6: 122,311,966 (GRCm39) N64S possibly damaging Het
Ppp4r3b T A 11: 29,159,450 (GRCm39) N180K possibly damaging Het
Primpol G A 8: 47,029,218 (GRCm39) probably benign Het
Prtg T C 9: 72,750,042 (GRCm39) S149P possibly damaging Het
Qrich2 T C 11: 116,337,741 (GRCm39) S1916G probably damaging Het
Rps6ka5 A T 12: 100,564,196 (GRCm39) Y218N probably damaging Het
Setbp1 T C 18: 78,899,833 (GRCm39) D1278G possibly damaging Het
Sirt1 C T 10: 63,174,728 (GRCm39) A8T probably benign Het
Sobp C T 10: 42,897,300 (GRCm39) V762I probably damaging Het
Sptan1 T C 2: 29,915,581 (GRCm39) S1994P probably damaging Het
Taok3 T C 5: 117,347,636 (GRCm39) I87T probably damaging Het
Tecta T C 9: 42,278,004 (GRCm39) Y1168C probably damaging Het
Trhr A G 15: 44,061,023 (GRCm39) Y181C probably damaging Het
Ube4b C T 4: 149,468,255 (GRCm39) D174N probably damaging Het
Ubr4 C T 4: 139,137,751 (GRCm39) H1067Y possibly damaging Het
Vmn2r86 A G 10: 130,288,469 (GRCm39) I344T possibly damaging Het
Vmn2r88 T A 14: 51,650,746 (GRCm39) L153* probably null Het
Zfp516 T A 18: 83,005,305 (GRCm39) D736E probably benign Het
Zfp612 G T 8: 110,815,683 (GRCm39) V258F possibly 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
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
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'- GTTGCTAAGGATGCAACCGG -3'
(R):5'- GAGCGAACTTACTTGCCTTGC -3'

Sequencing Primer
(F):5'- GAGAGAAAAACCCTCTCCTACTGTG -3'
(R):5'- CTATTTCAGCAAAGACCGTGG -3'
Posted On 2015-07-06