Mutagenetix > Incidental Mutation

Incidental Mutation 'R0736:Elapor2'

67287

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

038917-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0736 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

9316118-9531825 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 9491745 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 702 (S702C)

Ref Sequence

ENSEMBL: ENSMUSP00000121757 (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: S702C

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

SMART Domains

Protein: ENSMUSP00000069165
Gene: ENSMUSG00000056004
AA Change: S702C

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: S702C

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

SMART Domains

Protein: ENSMUSP00000121757
Gene: ENSMUSG00000056004
AA Change: S702C

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 benign
Transcript: ENSMUST00000155764

SMART Domains

Protein: ENSMUSP00000120849
Gene: ENSMUSG00000056004

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: 99.6%
3x: 99.0%
10x: 97.6%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amn1	G	A	6: 149,084,970 (GRCm39)	H37Y	possibly damaging	Het
Cacna2d3	A	T	14: 28,780,585 (GRCm39)	H644Q	probably benign	Het
Calb1	G	A	4: 15,898,917 (GRCm39)	V138M	probably benign	Het
Cep55	C	A	19: 38,061,765 (GRCm39)	T402N	probably benign	Het
Chrnb3	G	A	8: 27,875,078 (GRCm39)	A26T	probably benign	Het
Col6a3	C	T	1: 90,731,811 (GRCm39)	V1481I	possibly damaging	Het
Dmxl2	C	T	9: 54,286,101 (GRCm39)	V2695I	probably damaging	Het
Heatr5a	A	C	12: 51,943,344 (GRCm39)		probably null	Het
Kmt2c	C	T	5: 25,500,432 (GRCm39)	M461I	probably benign	Het
Mapk9	G	A	11: 49,774,081 (GRCm39)	D413N	possibly damaging	Het
Morc4	G	T	X: 138,755,700 (GRCm39)	Q239K	probably benign	Het
Myt1l	T	A	12: 29,877,813 (GRCm39)	V488D	unknown	Het
Neb	A	T	2: 52,082,024 (GRCm39)	Y24N	probably damaging	Het
Neo1	G	A	9: 58,824,364 (GRCm39)	P688L	possibly damaging	Het
Nlrp9b	A	T	7: 19,783,375 (GRCm39)	D409V	probably damaging	Het
Pcare	A	G	17: 72,051,659 (GRCm39)	V1231A	probably benign	Het
Pde7a	T	C	3: 19,285,207 (GRCm39)	N327D	probably damaging	Het
Pdzd8	C	A	19: 59,333,365 (GRCm39)	V219L	probably damaging	Het
Pgc	T	A	17: 48,039,705 (GRCm39)	M33K	probably damaging	Het
Pik3ap1	T	A	19: 41,320,758 (GRCm39)	T154S	possibly damaging	Het
Polm	G	C	11: 5,785,495 (GRCm39)	S188C	possibly damaging	Het
Slfn1	A	T	11: 83,011,907 (GRCm39)	T8S	probably benign	Het
St8sia6	C	T	2: 13,673,696 (GRCm39)	V179M	probably benign	Het
Tns3	A	T	11: 8,469,474 (GRCm39)	F274I	possibly damaging	Het
Tspan5	T	C	3: 138,574,159 (GRCm39)		probably null	Het
Utp14b	A	G	1: 78,642,989 (GRCm39)	K296E	probably damaging	Het
Zbtb14	A	G	17: 69,694,797 (GRCm39)	E165G	possibly damaging	Het
Zbtb17	C	A	4: 141,189,097 (GRCm39)	H6N	probably damaging	Het
Zw10	C	T	9: 48,975,432 (GRCm39)	H286Y	probably benign	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
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
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'- CCAGCAGATCAGAGTAGCTTAACGC -3'
(R):5'- GGGAAGGACTCGATGTATTCAAGCC -3'

Sequencing Primer
(F):5'- CTTCCCATAAGGAGGTTATCTGAG -3'
(R):5'- TCTGACCAGGTGAGACTATCC -3'

Posted On

2013-09-03