Mutagenetix > Incidental Mutation

Incidental Mutation 'R1803:Elapor2'

203273

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

039833-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1803 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

9316118-9531825 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 9477832 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 410 (H410R)

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: H410R

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000069165
Gene: ENSMUSG00000056004
AA Change: H410R

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: H410R

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000121757
Gene: ENSMUSG00000056004
AA Change: H410R

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
AA Change: H410R

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000120849
Gene: ENSMUSG00000056004
AA Change: H410R

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: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513D11Rik	A	T	17: 79,935,095 (GRCm39)		probably benign	Het
Adgrl3	C	T	5: 81,919,464 (GRCm39)	R586*	probably null	Het
Arpp21	T	C	9: 111,956,466 (GRCm39)	T471A	possibly damaging	Het
Blnk	T	C	19: 40,940,821 (GRCm39)	E194G	probably damaging	Het
Cd44	G	A	2: 102,664,597 (GRCm39)	P332S	probably damaging	Het
Cd47	T	C	16: 49,688,169 (GRCm39)	F30L	possibly damaging	Het
Cdh23	T	C	10: 60,167,060 (GRCm39)	E1861G	probably damaging	Het
Cdkal1	T	A	13: 29,701,454 (GRCm39)	M332L	probably damaging	Het
Cul9	A	G	17: 46,814,023 (GRCm39)	S2284P	probably damaging	Het
Cyp2a5	G	T	7: 26,534,971 (GRCm39)		probably null	Het
Dcp2	T	C	18: 44,528,984 (GRCm39)	I33T	probably damaging	Het
Ddx52	A	T	11: 83,836,958 (GRCm39)	I150L	probably damaging	Het
Dennd5a	T	A	7: 109,497,820 (GRCm39)	T1067S	probably benign	Het
Dnpep	A	T	1: 75,286,058 (GRCm39)	L419*	probably null	Het
Dock8	A	G	19: 25,109,599 (GRCm39)	K927R	probably benign	Het
Dpy19l4	A	T	4: 11,281,020 (GRCm39)	V475E	possibly damaging	Het
Edf1	C	T	2: 25,450,206 (GRCm39)	S41F	probably damaging	Het
Emilin1	C	T	5: 31,075,082 (GRCm39)	P441L	possibly damaging	Het
Epha3	T	C	16: 63,422,651 (GRCm39)	K579E	probably benign	Het
Exoc1	A	G	5: 76,709,288 (GRCm39)	N23S	probably benign	Het
Flt3	C	A	5: 147,303,865 (GRCm39)	E358*	probably null	Het
Fzd1	A	T	5: 4,806,385 (GRCm39)	I399K	probably damaging	Het
Gdi2	T	A	13: 3,614,547 (GRCm39)	Y333*	probably null	Het
Gm10479	A	G	12: 20,483,654 (GRCm39)	H91R	probably benign	Het
Gm10842	G	A	11: 105,037,867 (GRCm39)	R50K	unknown	Het
Grin2c	A	T	11: 115,151,558 (GRCm39)		probably null	Het
Grk2	C	T	19: 4,344,911 (GRCm39)	V53M	probably damaging	Het
H2-M10.2	C	T	17: 36,596,763 (GRCm39)	M104I	probably benign	Het
Hyou1	C	T	9: 44,295,479 (GRCm39)	Q290*	probably null	Het
Inka1	A	G	9: 107,861,938 (GRCm39)	V128A	probably benign	Het
Itgb2	T	C	10: 77,400,624 (GRCm39)	S746P	probably benign	Het
Jmjd7	C	T	2: 119,860,589 (GRCm39)	L39F	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Klhl2	T	C	8: 65,212,831 (GRCm39)	E236G	probably damaging	Het
Krtap19-4	C	A	16: 88,681,879 (GRCm39)	G26C	unknown	Het
Krtap4-16	G	A	11: 99,741,998 (GRCm39)	T134I	possibly damaging	Het
Lamb2	A	G	9: 108,365,298 (GRCm39)	H1318R	probably benign	Het
Mab21l3	G	A	3: 101,742,446 (GRCm39)	T38M	probably benign	Het
Mfsd10	A	T	5: 34,794,094 (GRCm39)	D6E	possibly damaging	Het
Mnat1	G	T	12: 73,226,007 (GRCm39)	G91*	probably null	Het
Mns1	A	T	9: 72,360,016 (GRCm39)	I389F	probably damaging	Het
Morc1	A	T	16: 48,443,001 (GRCm39)	T829S	probably benign	Het
Morn5	T	A	2: 35,943,089 (GRCm39)	V63E	probably benign	Het
Mybpc1	T	C	10: 88,389,157 (GRCm39)	T404A	possibly damaging	Het
Npc1l1	A	T	11: 6,178,846 (GRCm39)	M188K	probably damaging	Het
Nrcam	T	A	12: 44,618,991 (GRCm39)	M846K	probably benign	Het
Nup210	A	C	6: 91,051,264 (GRCm39)	F373C	probably damaging	Het
Or4k49	G	T	2: 111,495,099 (GRCm39)	S176I	probably damaging	Het
Or5b111	A	T	19: 13,291,535 (GRCm39)	V38E	possibly damaging	Het
Or7g18	T	C	9: 18,787,376 (GRCm39)	V248A	probably damaging	Het
Osbpl8	T	C	10: 111,110,910 (GRCm39)	S471P	probably damaging	Het
Plekhn1	A	T	4: 156,306,838 (GRCm39)	I517N	probably benign	Het
Plin4	G	T	17: 56,411,931 (GRCm39)	T700K	probably damaging	Het
Plxna4	A	T	6: 32,494,379 (GRCm39)	V79D	probably damaging	Het
Prdm16	A	T	4: 154,419,718 (GRCm39)	M897K	probably damaging	Het
Ptprg	T	A	14: 12,091,410 (GRCm38)		probably null	Het
Rcan2	G	T	17: 44,347,924 (GRCm39)	C211F	probably damaging	Het
Rigi	A	G	4: 40,224,013 (GRCm39)	S289P	probably benign	Het
Rxfp1	C	T	3: 79,645,076 (GRCm39)	C9Y	probably benign	Het
Scn2a	G	A	2: 65,501,111 (GRCm39)		probably null	Het
Scnn1a	A	C	6: 125,309,157 (GRCm39)	R264S	probably damaging	Het
Sema4g	T	C	19: 44,986,459 (GRCm39)	V345A	probably benign	Het
Sgo2b	T	A	8: 64,380,426 (GRCm39)	D802V	probably benign	Het
Slc25a21	G	A	12: 56,904,872 (GRCm39)	T54I	probably benign	Het
Slc25a46	C	T	18: 31,727,641 (GRCm39)	E223K	probably damaging	Het
Slc25a54	A	G	3: 109,010,013 (GRCm39)	I171V	probably benign	Het
Slc7a6	T	C	8: 106,919,088 (GRCm39)	V224A	possibly damaging	Het
Smchd1	A	T	17: 71,694,001 (GRCm39)	V1248E	probably damaging	Het
Sort1	C	A	3: 108,233,015 (GRCm39)	F196L	probably damaging	Het
Sptbn4	G	A	7: 27,118,008 (GRCm39)	T357M	probably damaging	Het
Srrm3	T	A	5: 135,885,983 (GRCm39)	W308R	probably damaging	Het
Stard9	A	T	2: 120,531,970 (GRCm39)	E2742D	probably benign	Het
Tas1r1	T	A	4: 152,116,705 (GRCm39)	I310F	probably damaging	Het
Tas1r3	G	A	4: 155,944,927 (GRCm39)	R765C	probably damaging	Het
Tff1	A	T	17: 31,380,560 (GRCm39)	C85*	probably null	Het
Tlr11	C	T	14: 50,598,104 (GRCm39)	T30I	probably benign	Het
Trio	T	C	15: 27,748,426 (GRCm39)	T1265A	probably benign	Het
Ttc7b	T	C	12: 100,373,261 (GRCm39)	M338V	possibly damaging	Het
Umod	T	A	7: 119,063,947 (GRCm39)	S620C	probably damaging	Het
Ust	C	A	10: 8,173,819 (GRCm39)		probably null	Het
Vmn1r176	A	T	7: 23,534,609 (GRCm39)	S181R	probably damaging	Het
Vmn1r202	T	C	13: 22,686,313 (GRCm39)	T35A	probably benign	Het
Vmn1r39	C	A	6: 66,781,895 (GRCm39)	R104L	probably benign	Het
Vps13b	T	A	15: 35,430,351 (GRCm39)	Y286*	probably null	Het
Zfp579	G	A	7: 4,996,769 (GRCm39)	R381C	probably damaging	Het
Zfp85	A	G	13: 67,899,747 (GRCm39)	S71P	probably benign	Het
Zfyve16	A	T	13: 92,640,593 (GRCm39)	V1254E	probably 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
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
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'- AGCTTGTCAATTTAGCATCTTTGTC -3'
(R):5'- CACCATGGCCTAAGAGTCCC -3'

Sequencing Primer
(F):5'- GGAGGATCTCACAGATGCTA -3'
(R):5'- ATGGCCTAAGAGTCCCATTATC -3'

Posted On

2014-06-23