Mutagenetix > Incidental Mutation

Incidental Mutation 'R0193:Elapor2'

23210

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

038452-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0193 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

9316118-9531825 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 9472359 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 352 (Q352L)

Ref Sequence

ENSEMBL: ENSMUSP00000120849 (fasta)

Gene Model

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

AlphaFold

Q3UZV7

Predicted Effect

probably benign
Transcript: ENSMUST00000069538
AA Change: Q352L

PolyPhen 2 Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000069165
Gene: ENSMUSG00000056004
AA Change: Q352L

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 benign
Transcript: ENSMUST00000134991
AA Change: Q352L

PolyPhen 2 Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000121757
Gene: ENSMUSG00000056004
AA Change: Q352L

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

noncoding transcript
Transcript: ENSMUST00000142202

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: Q352L

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120849
Gene: ENSMUSG00000056004
AA Change: Q352L

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

Meta Mutation Damage Score

0.1514

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 94.7%
20x: 85.3%

Validation Efficiency

95% (186/196)

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	T	C	15: 74,444,005 (GRCm39)	S96P	probably damaging	Het
Akr1c20	A	G	13: 4,561,292 (GRCm39)		probably benign	Het
Atp2a3	G	T	11: 72,863,046 (GRCm39)	V99L	possibly damaging	Het
Atp6v0a1	T	A	11: 100,939,308 (GRCm39)	I691N	possibly damaging	Het
Atp8b1	C	T	18: 64,694,707 (GRCm39)	R525Q	probably benign	Het
Aurkb	A	G	11: 68,939,370 (GRCm39)	D151G	probably damaging	Het
Bank1	A	T	3: 135,772,279 (GRCm39)		probably benign	Het
Bcl9l	T	C	9: 44,418,703 (GRCm39)	L847P	probably damaging	Het
Bscl2	T	A	19: 8,824,793 (GRCm39)	M292K	probably benign	Het
Cacna1c	C	T	6: 118,579,363 (GRCm39)		probably benign	Het
Cadps2	T	C	6: 23,599,439 (GRCm39)	K260R	probably benign	Het
Cc2d2a	T	C	5: 43,893,460 (GRCm39)	S1419P	probably damaging	Het
Ccdc180	G	A	4: 45,914,803 (GRCm39)	E145K	probably benign	Het
Ccno	C	T	13: 113,125,418 (GRCm39)		probably benign	Het
Cd300a	A	G	11: 114,784,202 (GRCm39)	D70G	probably benign	Het
Cenpc1	T	C	5: 86,180,262 (GRCm39)	D670G	probably benign	Het
Cenpl	A	G	1: 160,913,558 (GRCm39)	I323V	probably damaging	Het
Cfap44	A	G	16: 44,269,573 (GRCm39)		probably null	Het
Cfap74	C	T	4: 155,510,572 (GRCm39)	R386C	probably benign	Het
Cic	T	A	7: 24,986,565 (GRCm39)	S1299T	probably damaging	Het
Cic	C	A	7: 24,986,566 (GRCm39)	S1299Y	probably damaging	Het
Clcnkb	T	C	4: 141,139,627 (GRCm39)	E125G	possibly damaging	Het
Clstn1	G	A	4: 149,719,253 (GRCm39)	V361M	probably damaging	Het
Coro7	G	A	16: 4,445,368 (GRCm39)		probably benign	Het
Dchs1	C	T	7: 105,414,190 (GRCm39)	R875H	probably benign	Het
Eif3j1	A	C	2: 121,882,508 (GRCm39)	M239L	probably benign	Het
Eif4g3	G	T	4: 137,873,687 (GRCm39)		probably benign	Het
Erbb4	T	C	1: 68,083,119 (GRCm39)		probably benign	Het
Erlin2	T	G	8: 27,521,792 (GRCm39)	V164G	possibly damaging	Het
Fbxo43	G	T	15: 36,162,029 (GRCm39)	Q393K	probably benign	Het
Fcgr4	A	T	1: 170,853,329 (GRCm39)	N178I	possibly damaging	Het
Grid2	A	G	6: 64,040,937 (GRCm39)	N293S	possibly damaging	Het
H2-M1	C	T	17: 36,982,224 (GRCm39)	V126I	probably benign	Het
Htr1f	T	A	16: 64,747,112 (GRCm39)	Y60F	probably damaging	Het
Ilf2	A	G	3: 90,388,646 (GRCm39)		probably null	Het
Impg2	A	T	16: 56,085,412 (GRCm39)	K931*	probably null	Het
Ints1	T	C	5: 139,737,485 (GRCm39)	E2176G	probably damaging	Het
Iqsec2	T	C	X: 151,006,399 (GRCm39)	V1319A	probably benign	Het
Iqsec3	G	T	6: 121,387,683 (GRCm39)	D685E	probably damaging	Het
Itgbl1	G	A	14: 124,083,958 (GRCm39)	V279I	probably benign	Het
Kdm4b	C	T	17: 56,700,952 (GRCm39)	A541V	probably benign	Het
Kif14	A	T	1: 136,396,176 (GRCm39)	T161S	probably benign	Het
Krt86	T	C	15: 101,377,244 (GRCm39)		probably benign	Het
Kyat1	C	T	2: 30,077,198 (GRCm39)		probably null	Het
Limch1	T	C	5: 67,184,882 (GRCm39)	W791R	probably damaging	Het
Map3k11	T	A	19: 5,745,874 (GRCm39)	M396K	probably damaging	Het
Mat2a	A	G	6: 72,413,178 (GRCm39)		probably null	Het
Mbnl2	A	G	14: 120,616,649 (GRCm39)	I88V	possibly damaging	Het
Mib2	T	C	4: 155,740,130 (GRCm39)	T708A	probably benign	Het
Mix23	T	C	16: 35,903,184 (GRCm39)	S59P	probably damaging	Het
Mkks	T	C	2: 136,719,526 (GRCm39)		probably null	Het
Mtss1	T	C	15: 58,815,866 (GRCm39)	M565V	probably damaging	Het
Myoc	A	G	1: 162,476,604 (GRCm39)	N436S	probably damaging	Het
Myod1	T	A	7: 46,026,536 (GRCm39)	V147E	probably damaging	Het
Ngef	A	G	1: 87,437,056 (GRCm39)	L144P	probably benign	Het
Ngrn	C	T	7: 79,911,678 (GRCm39)	R92W	probably damaging	Het
Nup153	G	A	13: 46,863,130 (GRCm39)	T349I	probably benign	Het
Or4c15	T	A	2: 88,760,627 (GRCm39)	I11L	probably benign	Het
Or52ad1	G	T	7: 102,995,411 (GRCm39)	S241R	possibly damaging	Het
Pigl	A	G	11: 62,394,574 (GRCm39)	I135M	probably damaging	Het
Pitpnm3	A	G	11: 71,961,318 (GRCm39)		probably benign	Het
Pkhd1	A	T	1: 20,429,141 (GRCm39)	F2420I	probably damaging	Het
Polr2b	C	T	5: 77,467,923 (GRCm39)	T119M	probably damaging	Het
Prr29	A	G	11: 106,267,722 (GRCm39)	Y130C	probably damaging	Het
Rab11fip3	T	C	17: 26,209,973 (GRCm39)	I1048V	probably damaging	Het
Rab12	G	A	17: 66,807,357 (GRCm39)	T124I	probably damaging	Het
Rab44	A	G	17: 29,359,281 (GRCm39)	S490G	probably benign	Het
Rasa3	A	G	8: 13,620,233 (GRCm39)		probably null	Het
Rhbdl3	C	T	11: 80,244,400 (GRCm39)	S369L	possibly damaging	Het
Rimbp2	A	T	5: 128,865,420 (GRCm39)	S643T	probably benign	Het
Rin1	T	G	19: 5,102,680 (GRCm39)	S396R	probably damaging	Het
Rpusd3	C	T	6: 113,396,198 (GRCm39)	G28S	probably damaging	Het
Rtl9	T	A	X: 141,883,274 (GRCm39)	S229T	probably damaging	Het
Rufy1	G	T	11: 50,280,679 (GRCm39)	T701N	probably benign	Het
Scn4a	A	T	11: 106,211,364 (GRCm39)	L1551*	probably null	Het
Sec24b	T	C	3: 129,782,633 (GRCm39)	N1119S	probably null	Het
Serbp1	T	A	6: 67,249,868 (GRCm39)	*75R	probably null	Het
Setx	C	T	2: 29,069,685 (GRCm39)	P2497S	probably benign	Het
Slc26a11	A	T	11: 119,250,140 (GRCm39)	I132F	probably damaging	Het
Slc4a1	A	G	11: 102,243,510 (GRCm39)	V707A	possibly damaging	Het
Slfn1	A	G	11: 83,012,669 (GRCm39)	I262V	probably damaging	Het
Tmem168	T	A	6: 13,583,312 (GRCm39)	D523V	possibly damaging	Het
Traf7	G	T	17: 24,729,525 (GRCm39)	Q469K	probably benign	Het
Trdmt1	C	A	2: 13,549,428 (GRCm39)	V6F	probably damaging	Het
Tsacc	A	T	3: 88,194,395 (GRCm39)		probably benign	Het
Vmn2r5	A	G	3: 64,398,951 (GRCm39)	I589T	possibly damaging	Het
Vmn2r7	T	C	3: 64,598,460 (GRCm39)	D699G	probably damaging	Het
Vmn2r82	T	C	10: 79,217,129 (GRCm39)	V487A	probably damaging	Het
Zbtb47	T	C	9: 121,596,732 (GRCm39)	V696A	probably damaging	Het
Zfp287	A	T	11: 62,605,855 (GRCm39)	S351T	probably benign	Het
Zfp654	T	C	16: 64,606,051 (GRCm39)	H176R	possibly damaging	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
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
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'- TGTCGTCTGGAAAACAGTCACCAC -3'
(R):5'- AAGGGCAGTTTGCAGCACCTAC -3'

Sequencing Primer
(F):5'- GTTATCCTCCTTTCAGAGAGACTG -3'
(R):5'- GCAGCACCTACACTCTTGG -3'

Posted On

2013-04-16