Incidental Mutation 'R7265:Elapor2'
ID 564859
Institutional Source Beutler Lab
Gene Symbol Elapor2
Ensembl Gene ENSMUSG00000056004
Gene Name endosome-lysosome associated apoptosis and autophagy regulator family member 2
Synonyms 9330182L06Rik
MMRRC Submission 045355-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7265 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 9316118-9531825 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 9496975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 813 (V813A)
Ref Sequence ENSEMBL: ENSMUSP00000069165 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069538] [ENSMUST00000115348] [ENSMUST00000134991] [ENSMUST00000152095] [ENSMUST00000154662] [ENSMUST00000155764]
AlphaFold Q3UZV7
Predicted Effect possibly damaging
Transcript: ENSMUST00000069538
AA Change: V813A

PolyPhen 2 Score 0.649 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000069165
Gene: ENSMUSG00000056004
AA Change: V813A

DomainStartEndE-ValueType
signal peptide 1 47 N/A INTRINSIC
internal_repeat_1 58 334 1.12e-7 PROSPERO
internal_repeat_1 343 665 1.12e-7 PROSPERO
transmembrane domain 926 948 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115348
SMART Domains Protein: ENSMUSP00000111005
Gene: ENSMUSG00000056004

DomainStartEndE-ValueType
signal peptide 1 47 N/A INTRINSIC
low complexity region 213 224 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000134991
AA Change: V813A

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000121757
Gene: ENSMUSG00000056004
AA Change: V813A

DomainStartEndE-ValueType
signal peptide 1 47 N/A INTRINSIC
internal_repeat_1 58 334 9.82e-8 PROSPERO
internal_repeat_1 343 665 9.82e-8 PROSPERO
transmembrane domain 926 948 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000152095
SMART Domains Protein: ENSMUSP00000116440
Gene: ENSMUSG00000056004

DomainStartEndE-ValueType
low complexity region 7 24 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000154662
SMART Domains Protein: ENSMUSP00000116026
Gene: ENSMUSG00000056004

DomainStartEndE-ValueType
signal peptide 1 47 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000155764
SMART Domains Protein: ENSMUSP00000120849
Gene: ENSMUSG00000056004

DomainStartEndE-ValueType
signal peptide 1 47 N/A INTRINSIC
internal_repeat_1 58 180 5.47e-6 PROSPERO
internal_repeat_1 343 476 5.47e-6 PROSPERO
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asb3 A G 11: 30,948,495 (GRCm39) E57G probably benign Het
B3glct A G 5: 149,632,785 (GRCm39) D45G probably benign Het
BC034090 C A 1: 155,101,073 (GRCm39) C397F probably damaging Het
Bicd1 A G 6: 149,415,374 (GRCm39) K696E probably damaging Het
Btnl4 C T 17: 34,694,868 (GRCm39) C15Y probably benign Het
Cabin1 T C 10: 75,557,257 (GRCm39) N300S Het
Chia1 T A 3: 106,036,239 (GRCm39) L273Q probably damaging Het
Coq2 A G 5: 100,808,136 (GRCm39) S222P possibly damaging Het
Dgkb T C 12: 38,234,931 (GRCm39) V432A possibly damaging Het
Dpp3 A G 19: 4,973,797 (GRCm39) F92S probably damaging Het
Emcn T C 3: 137,122,839 (GRCm39) S183P probably damaging Het
Emcn T A 3: 137,124,837 (GRCm39) W217R probably damaging Het
Enpp2 A C 15: 54,773,429 (GRCm39) probably null Het
Epb41 T C 4: 131,695,145 (GRCm39) E14G unknown Het
Fhip1b G T 7: 105,033,432 (GRCm39) R609S probably benign Het
Grk4 A G 5: 34,873,608 (GRCm39) R225G probably damaging Het
Insl6 A T 19: 29,298,945 (GRCm39) W156R possibly damaging Het
Ints3 A T 3: 90,311,290 (GRCm39) probably null Het
Jarid2 G A 13: 45,055,748 (GRCm39) G318D probably benign Het
Kif16b A T 2: 142,556,650 (GRCm39) L596H probably damaging Het
Lctl T A 9: 64,034,203 (GRCm39) Y281N probably damaging Het
Letm1 A T 5: 33,935,992 (GRCm39) C34S possibly damaging Het
Lrrc32 T C 7: 98,148,644 (GRCm39) S475P probably damaging Het
Lrrc37a T A 11: 103,389,767 (GRCm39) D1886V probably benign Het
Macf1 A T 4: 123,301,670 (GRCm39) I944K probably benign Het
Mark4 T C 7: 19,185,650 (GRCm39) D28G probably benign Het
Mecom C A 3: 30,034,282 (GRCm39) A465S possibly damaging Het
Muc16 A G 9: 18,567,768 (GRCm39) S1584P unknown Het
Mycbp2 A G 14: 103,434,679 (GRCm39) probably null Het
Myo18b G A 5: 112,959,938 (GRCm39) R1372W probably damaging Het
Myo1c T C 11: 75,560,616 (GRCm39) I706T possibly damaging Het
Myo1g T C 11: 6,460,933 (GRCm39) T704A possibly damaging Het
Nwd1 A G 8: 73,419,556 (GRCm39) K914E probably benign Het
Or5ac20 T A 16: 59,104,287 (GRCm39) D191V probably damaging Het
Or8b101 A T 9: 38,020,227 (GRCm39) I77L possibly damaging Het
Or8k23 C T 2: 86,186,088 (GRCm39) V213I probably benign Het
Otub2 C T 12: 103,366,480 (GRCm39) S99L probably damaging Het
Pak5 G A 2: 135,943,105 (GRCm39) S345L probably benign Het
Pcdhb20 A T 18: 37,638,616 (GRCm39) I381F possibly damaging Het
Pcdhga7 A G 18: 37,849,969 (GRCm39) T659A probably damaging Het
Phf8-ps G A 17: 33,285,971 (GRCm39) T277I probably damaging Het
Pik3c2a T A 7: 115,987,321 (GRCm39) K533N probably damaging Het
Pkd1l1 T A 11: 8,879,402 (GRCm39) Q933L Het
Ppp4r3a A T 12: 101,019,770 (GRCm39) M395K possibly damaging Het
Pramel11 C A 4: 143,621,991 (GRCm39) V455L probably benign Het
Ptpn20 A G 14: 33,336,481 (GRCm39) T107A probably benign Het
Scaf8 T A 17: 3,227,900 (GRCm39) D376E unknown Het
Scn11a C A 9: 119,644,331 (GRCm39) C143F probably damaging Het
Sctr G A 1: 119,949,955 (GRCm39) R48Q probably benign Het
Sec13 A T 6: 113,712,097 (GRCm39) Y79* probably null Het
Sez6 T A 11: 77,853,691 (GRCm39) I287N probably damaging Het
Slc52a3 T A 2: 151,846,336 (GRCm39) I99K possibly damaging Het
Slco4c1 T G 1: 96,799,518 (GRCm39) H106P probably damaging Het
Tada2b A G 5: 36,633,952 (GRCm39) Y209H probably damaging Het
Tas1r2 T A 4: 139,396,963 (GRCm39) D796E probably benign Het
Tdrd12 A T 7: 35,187,147 (GRCm39) M581K Het
Thnsl1 A G 2: 21,217,269 (GRCm39) E341G probably damaging Het
Tlk2 C T 11: 105,075,070 (GRCm39) R11* probably null Het
Tmco6 T C 18: 36,872,396 (GRCm39) probably null Het
Trmt44 A T 5: 35,721,647 (GRCm39) H505Q probably benign Het
Trpc1 T C 9: 95,590,328 (GRCm39) M710V probably benign Het
Ttc21b T C 2: 66,040,517 (GRCm39) E858G possibly damaging Het
Twsg1 C T 17: 66,236,782 (GRCm39) D83N possibly damaging Het
Umod G T 7: 119,065,296 (GRCm39) Q578K probably benign Het
Vmn2r6 T C 3: 64,464,195 (GRCm39) N213S probably benign Het
Vmn2r88 G A 14: 51,655,776 (GRCm39) V662I Het
Zfp414 C A 17: 33,850,253 (GRCm39) D217E probably benign Het
Other mutations in Elapor2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00780:Elapor2 APN 5 9,472,367 (GRCm39) missense probably damaging 0.99
IGL00909:Elapor2 APN 5 9,430,282 (GRCm39) missense probably damaging 1.00
IGL01477:Elapor2 APN 5 9,487,756 (GRCm39) missense probably damaging 1.00
IGL02486:Elapor2 APN 5 9,472,323 (GRCm39) missense probably benign 0.00
IGL02863:Elapor2 APN 5 9,511,399 (GRCm39) nonsense probably null
IGL02939:Elapor2 APN 5 9,511,478 (GRCm39) missense probably damaging 1.00
IGL03039:Elapor2 APN 5 9,468,055 (GRCm39) missense probably benign 0.12
IGL03395:Elapor2 APN 5 9,472,359 (GRCm39) missense probably damaging 0.97
R0063:Elapor2 UTSW 5 9,490,709 (GRCm39) intron probably benign
R0063:Elapor2 UTSW 5 9,490,709 (GRCm39) intron probably benign
R0193:Elapor2 UTSW 5 9,472,359 (GRCm39) missense probably damaging 0.97
R0265:Elapor2 UTSW 5 9,484,681 (GRCm39) missense probably damaging 1.00
R0398:Elapor2 UTSW 5 9,495,367 (GRCm39) missense probably benign 0.00
R0432:Elapor2 UTSW 5 9,490,966 (GRCm39) nonsense probably null
R0494:Elapor2 UTSW 5 9,470,723 (GRCm39) critical splice donor site probably null
R0736:Elapor2 UTSW 5 9,491,745 (GRCm39) missense probably damaging 1.00
R0850:Elapor2 UTSW 5 9,467,993 (GRCm39) missense probably damaging 1.00
R1398:Elapor2 UTSW 5 9,430,297 (GRCm39) missense probably damaging 1.00
R1709:Elapor2 UTSW 5 9,490,726 (GRCm39) nonsense probably null
R1720:Elapor2 UTSW 5 9,478,407 (GRCm39) missense probably damaging 1.00
R1770:Elapor2 UTSW 5 9,468,021 (GRCm39) missense probably benign 0.01
R1782:Elapor2 UTSW 5 9,471,620 (GRCm39) missense possibly damaging 0.62
R1803:Elapor2 UTSW 5 9,477,832 (GRCm39) missense probably benign 0.05
R1868:Elapor2 UTSW 5 9,529,251 (GRCm39) missense probably damaging 1.00
R1870:Elapor2 UTSW 5 9,468,007 (GRCm39) missense probably damaging 0.97
R1871:Elapor2 UTSW 5 9,468,007 (GRCm39) missense probably damaging 0.97
R1913:Elapor2 UTSW 5 9,316,275 (GRCm39) missense probably damaging 0.97
R2054:Elapor2 UTSW 5 9,513,030 (GRCm39) missense possibly damaging 0.81
R2170:Elapor2 UTSW 5 9,529,206 (GRCm39) missense probably damaging 1.00
R2381:Elapor2 UTSW 5 9,430,342 (GRCm39) missense probably damaging 1.00
R2396:Elapor2 UTSW 5 9,485,395 (GRCm39) missense possibly damaging 0.92
R4003:Elapor2 UTSW 5 9,490,877 (GRCm39) missense probably benign 0.05
R5030:Elapor2 UTSW 5 9,478,502 (GRCm39) missense probably damaging 1.00
R5049:Elapor2 UTSW 5 9,478,488 (GRCm39) missense probably damaging 1.00
R5069:Elapor2 UTSW 5 9,490,897 (GRCm39) missense probably damaging 1.00
R5219:Elapor2 UTSW 5 9,511,486 (GRCm39) missense probably damaging 1.00
R5400:Elapor2 UTSW 5 9,529,247 (GRCm39) missense probably damaging 1.00
R5555:Elapor2 UTSW 5 9,472,296 (GRCm39) splice site probably null
R5593:Elapor2 UTSW 5 9,316,350 (GRCm39) missense probably benign 0.07
R5681:Elapor2 UTSW 5 9,509,308 (GRCm39) critical splice donor site probably null
R5707:Elapor2 UTSW 5 9,491,698 (GRCm39) missense probably damaging 1.00
R5756:Elapor2 UTSW 5 9,512,995 (GRCm39) missense probably damaging 0.98
R6087:Elapor2 UTSW 5 9,449,255 (GRCm39) missense probably damaging 1.00
R6252:Elapor2 UTSW 5 9,460,693 (GRCm39) missense probably damaging 1.00
R7067:Elapor2 UTSW 5 9,316,295 (GRCm39) missense possibly damaging 0.81
R7078:Elapor2 UTSW 5 9,460,709 (GRCm39) missense probably benign 0.10
R7079:Elapor2 UTSW 5 9,449,253 (GRCm39) missense probably damaging 1.00
R7117:Elapor2 UTSW 5 9,495,384 (GRCm39) nonsense probably null
R7996:Elapor2 UTSW 5 9,512,881 (GRCm39) missense probably damaging 1.00
R8199:Elapor2 UTSW 5 9,470,657 (GRCm39) missense probably damaging 1.00
R8246:Elapor2 UTSW 5 9,496,966 (GRCm39) missense probably benign 0.07
R8928:Elapor2 UTSW 5 9,496,979 (GRCm39) missense possibly damaging 0.86
R8935:Elapor2 UTSW 5 9,491,764 (GRCm39) missense probably damaging 1.00
R8963:Elapor2 UTSW 5 9,487,792 (GRCm39) missense probably damaging 1.00
R9140:Elapor2 UTSW 5 9,449,226 (GRCm39) missense probably benign 0.00
R9244:Elapor2 UTSW 5 9,460,700 (GRCm39) missense probably damaging 1.00
R9272:Elapor2 UTSW 5 9,460,699 (GRCm39) missense probably damaging 0.99
R9395:Elapor2 UTSW 5 9,477,822 (GRCm39) missense probably benign 0.19
R9548:Elapor2 UTSW 5 9,490,859 (GRCm39) missense probably damaging 1.00
X0019:Elapor2 UTSW 5 9,449,231 (GRCm39) missense probably damaging 0.97
X0052:Elapor2 UTSW 5 9,490,908 (GRCm39) missense possibly damaging 0.87
X0063:Elapor2 UTSW 5 9,449,239 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TTACTCTTATCTGGAATGGCTCAG -3'
(R):5'- AAGCTGTCATGCTAGGCAC -3'

Sequencing Primer
(F):5'- GGAATGGCTCAGTTTAATATTTCTGG -3'
(R):5'- TGTCATGCTAGGCACCCTGAAG -3'
Posted On 2019-06-26