Incidental Mutation 'R4419:Elmo2'
ID 326985
Institutional Source Beutler Lab
Gene Symbol Elmo2
Ensembl Gene ENSMUSG00000017670
Gene Name engulfment and cell motility 2
Synonyms CED-12, 1190002F24Rik
MMRRC Submission 041140-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.253) question?
Stock # R4419 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 165129951-165168399 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 165153675 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000071699] [ENSMUST00000074046] [ENSMUST00000094329] [ENSMUST00000103088] [ENSMUST00000103091] [ENSMUST00000126318] [ENSMUST00000133205] [ENSMUST00000128690]
AlphaFold Q8BHL5
Predicted Effect probably benign
Transcript: ENSMUST00000071699
AA Change: E98G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000071619
Gene: ENSMUSG00000017670
AA Change: E98G

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: E98G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000073691
Gene: ENSMUSG00000017670
AA Change: E98G

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 benign
Transcript: ENSMUST00000094329
AA Change: E98G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000091887
Gene: ENSMUSG00000017670
AA Change: E98G

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 benign
Transcript: ENSMUST00000103088
AA Change: E98G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099377
Gene: ENSMUSG00000017670
AA Change: E98G

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 benign
Transcript: ENSMUST00000103091
AA Change: E98G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099380
Gene: ENSMUSG00000017670
AA Change: E98G

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 benign
Transcript: ENSMUST00000126318
Predicted Effect probably benign
Transcript: ENSMUST00000133205
AA Change: E98G

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably null
Transcript: ENSMUST00000137188
SMART Domains Protein: ENSMUSP00000123232
Gene: ENSMUSG00000017670

DomainStartEndE-ValueType
Pfam:DUF3361 17 172 1.6e-64 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149844
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127496
Predicted Effect probably benign
Transcript: ENSMUST00000128690
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amdhd2 G A 17: 24,377,652 (GRCm39) P126L probably benign Het
Arfip2 T C 7: 105,288,270 (GRCm39) T44A probably damaging Het
B4galt1 A G 4: 40,853,537 (GRCm39) V90A probably benign Het
Bad C A 19: 6,928,053 (GRCm39) A115E probably benign Het
Bicc1 A G 10: 70,782,804 (GRCm39) L521P possibly damaging Het
Caskin1 T C 17: 24,723,683 (GRCm39) S824P probably damaging Het
Cblb T A 16: 51,867,621 (GRCm39) D76E possibly damaging Het
Celsr3 G T 9: 108,720,443 (GRCm39) A2572S possibly damaging Het
Csmd3 T C 15: 47,567,707 (GRCm39) Q2152R probably damaging Het
D2hgdh T A 1: 93,757,535 (GRCm39) V150E probably damaging Het
Ddn C A 15: 98,703,492 (GRCm39) W600L probably benign Het
Dicer1 A T 12: 104,671,373 (GRCm39) Y966N probably damaging Het
Dsp T A 13: 38,379,108 (GRCm39) I1352N probably damaging Het
Duox1 G A 2: 122,157,607 (GRCm39) A578T probably benign Het
Dysf T C 6: 84,184,224 (GRCm39) probably null Het
Heg1 A T 16: 33,547,805 (GRCm39) E864V probably benign Het
Hoxb9 T C 11: 96,162,807 (GRCm39) V147A probably benign Het
Kdm1b C T 13: 47,216,553 (GRCm39) R308W probably damaging Het
Ky G A 9: 102,419,909 (GRCm39) V639I probably damaging Het
Med16 G A 10: 79,734,216 (GRCm39) A566V probably benign Het
Mettl17 G T 14: 52,124,729 (GRCm39) G167C possibly damaging Het
Mgat4b T C 11: 50,123,813 (GRCm39) F318L probably damaging Het
Mug2 C A 6: 122,056,589 (GRCm39) A1178D probably damaging Het
Myo3b A G 2: 69,926,706 (GRCm39) D51G probably damaging Het
Naip2 T C 13: 100,297,133 (GRCm39) N968D probably benign Het
Nbea T C 3: 55,917,021 (GRCm39) H820R probably damaging Het
Nqo1 C T 8: 108,118,749 (GRCm39) probably null Het
Or10ak7 A T 4: 118,791,586 (GRCm39) I153N possibly damaging Het
Or6c68 T C 10: 129,157,684 (GRCm39) F64S possibly damaging Het
Or8b51 C T 9: 38,569,365 (GRCm39) V108I probably benign Het
Ppargc1a T C 5: 51,652,044 (GRCm39) D218G probably damaging Het
Rras A G 7: 44,670,003 (GRCm39) D145G probably damaging Het
Scn3a C A 2: 65,297,304 (GRCm39) G1452C probably damaging Het
Slc22a2 C A 17: 12,831,473 (GRCm39) S421* probably null Het
Slc39a10 A G 1: 46,849,226 (GRCm39) F797L probably benign Het
Spta1 T A 1: 174,074,990 (GRCm39) Y2405* probably null Het
Ss18 A G 18: 14,766,662 (GRCm39) Y359H unknown Het
St14 C T 9: 31,008,224 (GRCm39) C537Y probably damaging Het
Tmem252 T A 19: 24,654,910 (GRCm39) Y96N probably damaging Het
Trafd1 T C 5: 121,511,396 (GRCm39) D474G probably benign Het
Trmt1l A G 1: 151,316,559 (GRCm39) I20M probably damaging Het
Ulk1 C T 5: 110,937,223 (GRCm39) R691Q probably benign Het
Vmn1r43 A G 6: 89,846,629 (GRCm39) S286P probably benign 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
R0472:Elmo2 UTSW 2 165,140,250 (GRCm39) missense probably damaging 0.99
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
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'- TGGATGTGGACATGAGCGTC -3'
(R):5'- TGTTGGAAACTCTCTTCCTGG -3'

Sequencing Primer
(F):5'- ACATGAGCGTCCGTGAGTG -3'
(R):5'- GGAAACTCTCTTCCTGGTCCATAAAC -3'
Posted On 2015-07-07