Incidental Mutation 'R0472:Elmo2'
ID 46806
Institutional Source Beutler Lab
Gene Symbol Elmo2
Ensembl Gene ENSMUSG00000017670
Gene Name engulfment and cell motility 2
Synonyms CED-12, 1190002F24Rik
MMRRC Submission 038672-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.253) question?
Stock # R0472 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 165129951-165168399 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 165140250 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 315 (I315T)
Ref Sequence ENSEMBL: ENSMUSP00000099380 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071699] [ENSMUST00000074046] [ENSMUST00000094329] [ENSMUST00000103088] [ENSMUST00000103091]
AlphaFold Q8BHL5
Predicted Effect probably damaging
Transcript: ENSMUST00000071699
AA Change: I315T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000071619
Gene: ENSMUSG00000017670
AA Change: I315T

DomainStartEndE-ValueType
Pfam:DUF3361 115 272 1.6e-61 PFAM
Pfam:ELMO_CED12 295 474 3.2e-39 PFAM
Pfam:PH_12 541 657 5.4e-33 PFAM
internal_repeat_1 670 688 6.69e-7 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000074046
AA Change: I327T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000073691
Gene: ENSMUSG00000017670
AA Change: I327T

DomainStartEndE-ValueType
Pfam:DUF3361 114 285 2.7e-75 PFAM
Pfam:ELMO_CED12 304 487 3.7e-48 PFAM
PDB:3A98|D 535 729 3e-99 PDB
SCOP:d1mai__ 552 677 4e-33 SMART
Blast:PH 560 681 2e-82 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000094329
AA Change: I315T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000091887
Gene: ENSMUSG00000017670
AA Change: I315T

DomainStartEndE-ValueType
Pfam:DUF3361 114 273 5.6e-77 PFAM
Pfam:ELMO_CED12 292 475 3.6e-48 PFAM
PDB:3A98|D 523 717 2e-99 PDB
SCOP:d1mai__ 540 665 5e-33 SMART
Blast:PH 548 669 1e-82 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000103088
AA Change: I315T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099377
Gene: ENSMUSG00000017670
AA Change: I315T

DomainStartEndE-ValueType
Pfam:DUF3361 114 273 6.6e-77 PFAM
Pfam:ELMO_CED12 292 475 4.3e-48 PFAM
internal_repeat_1 654 672 6.69e-7 PROSPERO
internal_repeat_1 670 688 6.69e-7 PROSPERO
Predicted Effect probably damaging
Transcript: ENSMUST00000103091
AA Change: I315T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099380
Gene: ENSMUSG00000017670
AA Change: I315T

DomainStartEndE-ValueType
Pfam:DUF3361 114 273 5.6e-77 PFAM
Pfam:ELMO_CED12 292 475 3.6e-48 PFAM
PDB:3A98|D 523 717 2e-99 PDB
SCOP:d1mai__ 540 665 5e-33 SMART
Blast:PH 548 669 1e-82 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127496
Predicted Effect probably benign
Transcript: ENSMUST00000137188
SMART Domains Protein: ENSMUSP00000123232
Gene: ENSMUSG00000017670

DomainStartEndE-ValueType
Pfam:DUF3361 17 172 1.6e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148643
SMART Domains Protein: ENSMUSP00000117124
Gene: ENSMUSG00000017670

DomainStartEndE-ValueType
Pfam:ELMO_CED12 2 48 9.6e-10 PFAM
Pfam:PH_12 115 237 1.3e-35 PFAM
low complexity region 270 280 N/A INTRINSIC
Meta Mutation Damage Score 0.0642 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency 97% (65/67)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene interacts with the dedicator of cyto-kinesis 1 protein. Similarity to a C. elegans protein suggests that this protein may function in phagocytosis of apoptotic cells and in cell migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700128F08Rik A G 9: 8,222,123 (GRCm39) noncoding transcript Het
AI182371 T C 2: 34,975,218 (GRCm39) N337S probably benign Het
Aldh3b1 C T 19: 3,964,024 (GRCm39) R426H probably damaging Het
Arap2 A G 5: 62,864,002 (GRCm39) F541L probably damaging Het
Asap2 G T 12: 21,263,186 (GRCm39) R267L possibly damaging Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
Bmp8b T A 4: 123,015,692 (GRCm39) D226E probably benign Het
C1ra T A 6: 124,494,403 (GRCm39) D283E possibly damaging Het
Cacul1 G T 19: 60,531,464 (GRCm39) H268Q probably damaging Het
Cd9 T C 6: 125,449,396 (GRCm39) N49D probably benign Het
Cdc42bpa A G 1: 179,867,744 (GRCm39) H193R probably damaging Het
Cep290 G A 10: 100,387,317 (GRCm39) G1935E probably benign Het
Cep350 A T 1: 155,790,469 (GRCm39) I1362N probably damaging Het
Chchd7 A T 4: 3,943,416 (GRCm39) N61I possibly damaging Het
Clca3a1 A T 3: 144,733,106 (GRCm39) L134Q probably damaging Het
Clec2j T C 6: 128,633,565 (GRCm39) noncoding transcript Het
Clvs1 G A 4: 9,281,801 (GRCm39) A82T probably damaging Het
Csn1s1 A T 5: 87,825,486 (GRCm39) Y231F possibly damaging Het
Cyp2c55 A T 19: 39,019,823 (GRCm39) T254S probably benign Het
Decr1 A G 4: 15,919,849 (GRCm39) S290P probably damaging Het
Dnai2 T A 11: 114,636,015 (GRCm39) probably benign Het
Dock4 C A 12: 40,888,437 (GRCm39) probably benign Het
Dst T C 1: 34,306,041 (GRCm39) probably null Het
Fcho2 A G 13: 98,884,775 (GRCm39) F431L probably benign Het
Fez2 A G 17: 78,692,261 (GRCm39) probably benign Het
Gas2l3 C T 10: 89,262,339 (GRCm39) A128T probably damaging Het
Hpse2 T C 19: 43,001,602 (GRCm39) I222M probably damaging Het
Katnip A G 7: 125,472,139 (GRCm39) N1548S probably damaging Het
Kcna2 A G 3: 107,012,832 (GRCm39) D471G probably benign Het
Kcnj13 T A 1: 87,314,568 (GRCm39) Y218F probably benign Het
Kif1a T C 1: 92,946,719 (GRCm39) H1763R probably damaging Het
Krt1c C T 15: 101,721,688 (GRCm39) R451H probably damaging Het
Lama2 A G 10: 26,866,863 (GRCm39) V2877A probably damaging Het
Lrrc2 A T 9: 110,791,685 (GRCm39) M80L probably benign Het
Naip6 A G 13: 100,438,768 (GRCm39) V343A probably benign Het
Nedd4l T C 18: 65,341,532 (GRCm39) Y753H probably damaging Het
Nif3l1 A C 1: 58,486,987 (GRCm39) S58R probably damaging Het
Or51h7 A T 7: 102,591,258 (GRCm39) C175* probably null Het
Or5w20 T A 2: 87,726,837 (GRCm39) V98E possibly damaging Het
Or9r3 G A 10: 129,948,449 (GRCm39) S70F probably damaging Het
Osbpl11 C A 16: 33,054,814 (GRCm39) Y632* probably null Het
Pask A T 1: 93,248,639 (GRCm39) D920E probably benign Het
Pclo T C 5: 14,731,608 (GRCm39) V3370A unknown Het
Ptpn21 G A 12: 98,670,499 (GRCm39) probably benign Het
Rph3al T C 11: 75,799,795 (GRCm39) I55V probably benign Het
Rsad2 T G 12: 26,504,167 (GRCm39) I121L possibly damaging Het
Sergef T G 7: 46,283,170 (GRCm39) probably benign Het
Sp110 C T 1: 85,516,841 (GRCm39) E219K possibly damaging Het
Tas2r104 T C 6: 131,662,434 (GRCm39) I92V probably benign Het
Tasor2 A G 13: 3,638,364 (GRCm39) S456P possibly damaging Het
Tbc1d23 T A 16: 56,993,469 (GRCm39) I566F possibly damaging Het
Tbc1d9b A G 11: 50,059,055 (GRCm39) probably null Het
Tie1 T A 4: 118,333,344 (GRCm39) I841L possibly damaging Het
Tpo A G 12: 30,150,485 (GRCm39) V465A probably benign Het
Ttll3 A T 6: 113,386,300 (GRCm39) Q711L probably damaging Het
Ttn C T 2: 76,783,385 (GRCm39) R869H probably benign Het
Uggt2 A G 14: 119,332,748 (GRCm39) V62A probably damaging Het
Usp34 T C 11: 23,334,509 (GRCm39) probably benign Het
Vmn1r17 C A 6: 57,338,304 (GRCm39) M20I probably benign Het
Vmn1r71 G C 7: 10,482,019 (GRCm39) S223C possibly damaging Het
Vmn2r120 C T 17: 57,831,518 (GRCm39) V424I probably benign Het
Vps13b T C 15: 35,417,779 (GRCm39) probably null Het
Wdfy3 C A 5: 102,105,309 (GRCm39) A173S probably benign Het
Wdr59 T C 8: 112,213,629 (GRCm39) probably null Het
Ythdc2 A T 18: 44,997,424 (GRCm39) M994L probably benign Het
Zfp808 T A 13: 62,320,120 (GRCm39) F450I probably damaging Het
Other mutations in Elmo2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00796:Elmo2 APN 2 165,133,934 (GRCm39) unclassified probably benign
IGL01096:Elmo2 APN 2 165,138,907 (GRCm39) unclassified probably benign
IGL01694:Elmo2 APN 2 165,156,693 (GRCm39) missense probably benign 0.05
IGL02016:Elmo2 APN 2 165,136,932 (GRCm39) critical splice donor site probably null
IGL02402:Elmo2 APN 2 165,139,312 (GRCm39) missense probably damaging 0.97
IGL02808:Elmo2 APN 2 165,133,627 (GRCm39) unclassified probably benign
IGL03030:Elmo2 APN 2 165,136,237 (GRCm39) missense possibly damaging 0.93
IGL03117:Elmo2 APN 2 165,140,573 (GRCm39) missense probably benign 0.01
R0046:Elmo2 UTSW 2 165,140,646 (GRCm39) missense probably damaging 0.97
R0046:Elmo2 UTSW 2 165,140,646 (GRCm39) missense probably damaging 0.97
R0278:Elmo2 UTSW 2 165,139,287 (GRCm39) missense probably damaging 1.00
R0281:Elmo2 UTSW 2 165,138,810 (GRCm39) missense probably damaging 1.00
R0570:Elmo2 UTSW 2 165,146,839 (GRCm39) missense probably benign 0.38
R1799:Elmo2 UTSW 2 165,134,077 (GRCm39) missense probably damaging 1.00
R1940:Elmo2 UTSW 2 165,133,970 (GRCm39) unclassified probably benign
R2005:Elmo2 UTSW 2 165,140,199 (GRCm39) missense probably benign 0.00
R2504:Elmo2 UTSW 2 165,140,607 (GRCm39) missense probably damaging 0.96
R2915:Elmo2 UTSW 2 165,139,573 (GRCm39) unclassified probably benign
R3744:Elmo2 UTSW 2 165,157,922 (GRCm39) missense probably damaging 0.96
R4027:Elmo2 UTSW 2 165,136,169 (GRCm39) nonsense probably null
R4419:Elmo2 UTSW 2 165,153,675 (GRCm39) splice site probably null
R4824:Elmo2 UTSW 2 165,133,922 (GRCm39) unclassified probably benign
R4888:Elmo2 UTSW 2 165,137,209 (GRCm39) missense probably benign 0.14
R4950:Elmo2 UTSW 2 165,156,733 (GRCm39) splice site probably null
R5157:Elmo2 UTSW 2 165,133,627 (GRCm39) unclassified probably benign
R5535:Elmo2 UTSW 2 165,152,132 (GRCm39) missense possibly damaging 0.51
R5682:Elmo2 UTSW 2 165,139,330 (GRCm39) missense probably damaging 1.00
R5840:Elmo2 UTSW 2 165,137,472 (GRCm39) missense possibly damaging 0.64
R5868:Elmo2 UTSW 2 165,136,192 (GRCm39) missense possibly damaging 0.89
R7022:Elmo2 UTSW 2 165,136,961 (GRCm39) missense probably damaging 0.99
R7089:Elmo2 UTSW 2 165,146,849 (GRCm39) missense possibly damaging 0.78
R7678:Elmo2 UTSW 2 165,133,664 (GRCm39) missense unknown
R8024:Elmo2 UTSW 2 165,133,775 (GRCm39) missense unknown
R8290:Elmo2 UTSW 2 165,150,923 (GRCm39) missense probably damaging 1.00
R9150:Elmo2 UTSW 2 165,140,607 (GRCm39) missense probably damaging 0.96
R9166:Elmo2 UTSW 2 165,132,438 (GRCm39) missense probably benign 0.14
Predicted Primers PCR Primer
(F):5'- TGGATCTGGTTTACGCCCACCAAG -3'
(R):5'- GAATGCTGTGTGAAGTGGTCTCCTC -3'

Sequencing Primer
(F):5'- ACTCCAGGGCTGTCACTATG -3'
(R):5'- AGTGGTCTCCTCAAAACTGG -3'
Posted On 2013-06-11