Mutagenetix > Incidental Mutation

Incidental Mutation 'R1720:Elapor2'

191365

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

039752-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1720 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

9316118-9531825 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 9478407 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Glycine at position 424 (C424G)

Ref Sequence

ENSEMBL: ENSMUSP00000120849 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069538] [ENSMUST00000115348] [ENSMUST00000134991] [ENSMUST00000152095] [ENSMUST00000154662] [ENSMUST00000155764]

AlphaFold

Q3UZV7

Predicted Effect

probably damaging
Transcript: ENSMUST00000069538
AA Change: C424G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000069165
Gene: ENSMUSG00000056004
AA Change: C424G

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
signal peptide	1	47	N/A	INTRINSIC
low complexity region	213	224	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000134991
AA Change: C424G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121757
Gene: ENSMUSG00000056004
AA Change: C424G

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
low complexity region	7	24	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000154662

SMART Domains

Protein: ENSMUSP00000116026
Gene: ENSMUSG00000056004

Domain	Start	End	E-Value	Type
signal peptide	1	47	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000155764
AA Change: C424G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120849
Gene: ENSMUSG00000056004
AA Change: C424G

Domain	Start	End	E-Value	Type
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: 99.1%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot5	A	G	12: 84,122,655 (GRCm39)	D413G	probably benign	Het
Actr5	G	T	2: 158,478,057 (GRCm39)	V476F	possibly damaging	Het
Adhfe1	G	A	1: 9,637,125 (GRCm39)	D426N	probably benign	Het
Adra1a	T	C	14: 66,875,727 (GRCm39)	L234P	probably damaging	Het
Akap9	G	T	5: 4,022,791 (GRCm39)	V1207L	possibly damaging	Het
Anapc2	A	G	2: 25,164,724 (GRCm39)	D36G	probably benign	Het
Apol8	A	G	15: 77,633,566 (GRCm39)	S337P	possibly damaging	Het
Asxl3	A	T	18: 22,585,492 (GRCm39)	D139V	probably damaging	Het
Atp13a4	A	T	16: 29,227,746 (GRCm39)	V1037E	probably damaging	Het
Baat	A	T	4: 49,490,231 (GRCm39)	F284L	probably benign	Het
Bltp3b	T	C	10: 89,618,448 (GRCm39)	V141A	probably damaging	Het
C1qtnf6	A	T	15: 78,411,640 (GRCm39)	F40Y	probably damaging	Het
Caskin2	G	A	11: 115,693,608 (GRCm39)	H508Y	probably damaging	Het
Cass4	A	T	2: 172,269,654 (GRCm39)	I579F	probably damaging	Het
Cdk15	A	G	1: 59,328,917 (GRCm39)	Y277C	probably damaging	Het
Cit	G	A	5: 116,105,956 (GRCm39)	D947N	probably damaging	Het
Clint1	T	A	11: 45,778,237 (GRCm39)	I126K	probably damaging	Het
Col6a4	C	T	9: 105,903,671 (GRCm39)	G1640E	probably damaging	Het
Ddx10	T	C	9: 53,149,371 (GRCm39)	K119E	probably damaging	Het
Dennd1a	G	A	2: 37,690,209 (GRCm39)	Q964*	probably null	Het
Dnhd1	T	C	7: 105,343,035 (GRCm39)	F1460L	probably benign	Het
Edc3	T	C	9: 57,655,462 (GRCm39)		probably null	Het
Edn1	A	G	13: 42,458,826 (GRCm39)	E163G	probably benign	Het
Efl1	A	T	7: 82,332,929 (GRCm39)	D317V	possibly damaging	Het
F2	A	T	2: 91,459,175 (GRCm39)	Y430*	probably null	Het
Faap100	C	T	11: 120,265,407 (GRCm39)	V490M	probably damaging	Het
Fuz	G	T	7: 44,546,415 (GRCm39)	G104W	probably damaging	Het
Greb1l	C	A	18: 10,553,848 (GRCm39)	H1616Q	probably benign	Het
Grm1	G	T	10: 10,622,538 (GRCm39)		probably null	Het
Gucy2d	G	T	7: 98,126,437 (GRCm39)	A1098S	probably benign	Het
H1f0	T	A	15: 78,913,195 (GRCm39)	S92T	possibly damaging	Het
Hbb-bt	T	A	7: 103,463,083 (GRCm39)		probably benign	Het
Heg1	G	A	16: 33,527,549 (GRCm39)	A170T	probably benign	Het
Hspa4l	A	T	3: 40,736,049 (GRCm39)	K578*	probably null	Het
Ikbke	A	G	1: 131,186,947 (GRCm39)	S582P	possibly damaging	Het
Itga6	T	A	2: 71,650,510 (GRCm39)	F185L	probably damaging	Het
Itgal	T	A	7: 126,906,099 (GRCm39)	D396E	probably benign	Het
Kif5b	T	C	18: 6,213,427 (GRCm39)	H687R	probably benign	Het
Kmt2c	T	C	5: 25,504,182 (GRCm39)	N3709D	probably benign	Het
Lipf	A	T	19: 33,943,066 (GRCm39)	K125*	probably null	Het
Lrif1	A	T	3: 106,640,452 (GRCm39)	E512D	probably damaging	Het
Matn2	T	A	15: 34,345,420 (GRCm39)	Y142*	probably null	Het
Med13l	A	G	5: 118,880,060 (GRCm39)	T1051A	probably damaging	Het
Mpp3	T	A	11: 101,916,582 (GRCm39)	M1L	possibly damaging	Het
Mro	C	T	18: 74,009,806 (GRCm39)	S159L	probably benign	Het
Myh15	T	A	16: 48,913,145 (GRCm39)	D367E	probably damaging	Het
Myo1g	T	C	11: 6,462,490 (GRCm39)	Q547R	probably benign	Het
Neb	T	C	2: 52,097,733 (GRCm39)	I902M	probably benign	Het
Nsd1	G	A	13: 55,394,711 (GRCm39)	D771N	probably damaging	Het
Or10x4	A	G	1: 174,219,486 (GRCm39)	I284V	probably benign	Het
Or14a256	T	C	7: 86,265,664 (GRCm39)	N63S	probably damaging	Het
Or2a20	T	C	6: 43,194,494 (GRCm39)	S216P	probably damaging	Het
Or4e5	A	C	14: 52,728,051 (GRCm39)	Y40*	probably null	Het
Or8b48	C	T	9: 38,492,585 (GRCm39)	T4I	probably benign	Het
Penk	A	G	4: 4,134,240 (GRCm39)	Y136H	probably damaging	Het
Prdm6	C	T	18: 53,673,272 (GRCm39)	S144L	probably benign	Het
Ptprq	T	A	10: 107,522,155 (GRCm39)	I599F	probably damaging	Het
Racgap1	A	T	15: 99,526,650 (GRCm39)	C304*	probably null	Het
Rbp3	T	C	14: 33,678,866 (GRCm39)	V938A	probably benign	Het
Rpp30	A	G	19: 36,071,827 (GRCm39)	K132E	probably damaging	Het
Rxfp2	A	T	5: 149,966,564 (GRCm39)	R101*	probably null	Het
Ryr1	A	T	7: 28,801,295 (GRCm39)	V823E	probably damaging	Het
S100pbp	A	T	4: 129,075,886 (GRCm39)	D146E	probably damaging	Het
Sdr9c7	T	A	10: 127,738,127 (GRCm39)	V135E	probably damaging	Het
Serpinb12	A	G	1: 106,874,344 (GRCm39)	D23G	probably damaging	Het
Serpinf1	T	A	11: 75,304,807 (GRCm39)	T185S	probably null	Het
Slc23a1	A	C	18: 35,758,904 (GRCm39)	C96G	possibly damaging	Het
Slc5a4a	C	T	10: 76,025,103 (GRCm39)		probably null	Het
Spmap1	A	G	11: 97,662,435 (GRCm39)	F146L	probably damaging	Het
Suco	A	T	1: 161,661,623 (GRCm39)	L936Q	probably damaging	Het
Tmem144	T	C	3: 79,732,606 (GRCm39)	Y224C	probably damaging	Het
Tpm4	T	A	8: 72,898,598 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,560,414 (GRCm39)	E29329G	probably damaging	Het
Txn1	T	C	4: 57,943,922 (GRCm39)	I101V	probably benign	Het
Ube2o	A	T	11: 116,435,433 (GRCm39)	C452S	probably benign	Het
Uxs1	A	T	1: 43,804,081 (GRCm39)	I278N	probably damaging	Het
Vps54	T	C	11: 21,256,519 (GRCm39)	F663L	probably damaging	Het
Wdfy3	CG	C	5: 102,074,391 (GRCm39)		probably null	Het
Zc3h11a	A	G	1: 133,549,439 (GRCm39)	S741P	probably damaging	Het
Zdbf2	G	A	1: 63,342,436 (GRCm39)	V272I	possibly damaging	Het
Zdhhc24	A	G	19: 4,928,979 (GRCm39)	N68S	probably damaging	Het
Znfx1	A	T	2: 166,885,986 (GRCm39)	L858*	probably null	Het

Other mutations in Elapor2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R7265:Elapor2	UTSW	5	9,496,975 (GRCm39)	missense	possibly damaging	0.65
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'- AGGATTGTCCTCCTTGCAACCCAG -3'
(R):5'- GTCTTCGCTGCCACAACAGTTAATG -3'

Sequencing Primer
(F):5'- CCTATTGGGTAACCGTGGATAACC -3'
(R):5'- GTTAATGTAGAATCCAAGCTCACCG -3'

Posted On

2014-05-14