Mutagenetix > Incidental Mutations

Incidental Mutation 'R1682:Magel2'

189240

Institutional Source

Beutler Lab

Gene Symbol

Magel2

Ensembl Gene

ENSMUSG00000056972

Gene Name

melanoma antigen, family L, 2

Synonyms

nM15, ns7, NDNL1, Mage-l2

MMRRC Submission

039718-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1682 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62377010-62381640 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 62380235 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 962 (S962R)

Ref Sequence

ENSEMBL: ENSMUSP00000079265 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080403]

Predicted Effect

unknown
Transcript: ENSMUST00000080403
AA Change: S962R

SMART Domains

Protein: ENSMUSP00000079265
Gene: ENSMUSG00000056972
AA Change: S962R

Domain	Start	End	E-Value	Type
low complexity region	30	49	N/A	INTRINSIC
low complexity region	51	84	N/A	INTRINSIC
internal_repeat_1	85	131	2.45e-10	PROSPERO
low complexity region	134	205	N/A	INTRINSIC
internal_repeat_1	222	298	2.45e-10	PROSPERO
internal_repeat_2	289	332	6.32e-5	PROSPERO
low complexity region	347	363	N/A	INTRINSIC
low complexity region	467	492	N/A	INTRINSIC
internal_repeat_2	494	535	6.32e-5	PROSPERO
low complexity region	560	648	N/A	INTRINSIC
low complexity region	675	686	N/A	INTRINSIC
low complexity region	761	785	N/A	INTRINSIC
low complexity region	903	920	N/A	INTRINSIC
MAGE	1059	1229	6.82e-65	SMART
low complexity region	1262	1284	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207232

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Prader-Willi syndrome (PWS) is caused by the loss of expression of imprinted genes in chromosome 15q11-q13 region. Affected individuals exhibit neonatal hypotonia, developmental delay, and childhood-onset obesity. Necdin (NDN), a gene involved in the terminal differentiation of neurons, localizes to this region of the genome and has been implicated as one of the genes responsible for the etiology of PWS. This gene is structurally similar to NDN, is also localized to the PWS chromosomal region, and is paternally imprinted, suggesting a possible role for it in PWS. [provided by RefSeq, Oct 2010]
PHENOTYPE: Mice heterozygous for a null allele that is inherited paternally exhibit some postnatal lethality, reduced male fertility, abnormal circadian rhythm, and hypoactivity. Mice heterozygous for another paternal knock-out allele exhibit 50% neonatal lethalityassociated with weak suckling activity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,392,217	D2203G	probably benign	Het
Acin1	A	G	14: 54,663,718	S629P	probably damaging	Het
Agbl2	T	A	2: 90,784,090	I22N	probably benign	Het
Ank1	A	G	8: 23,109,327	E796G	probably damaging	Het
Ankrd13d	A	G	19: 4,282,933	L13P	probably damaging	Het
Ankrd36	T	C	11: 5,607,143	S364P	possibly damaging	Het
Ap2a1	T	C	7: 44,915,938	T126A	probably benign	Het
Apob	A	G	12: 8,012,365	I3616V	probably benign	Het
Arl5a	A	T	2: 52,416,202	N39K	probably benign	Het
Baiap2	G	A	11: 119,997,540	R334H	probably damaging	Het
Bbox1	T	A	2: 110,292,548	N132I	possibly damaging	Het
Bcl11b	A	G	12: 107,916,649	L469P	probably damaging	Het
Brca1	A	G	11: 101,525,565	I581T	probably damaging	Het
Cacng2	T	C	15: 78,118,797	Y32C	probably damaging	Het
Capn9	G	T	8: 124,611,565		probably null	Het
Cdh18	A	G	15: 23,400,585	T290A	probably benign	Het
Cdk5rap2	C	T	4: 70,302,150	V593I	possibly damaging	Het
Cep128	G	C	12: 91,230,822	D91E	probably damaging	Het
Cep295	T	C	9: 15,333,921	M1080V	probably benign	Het
Coq8b	T	A	7: 27,240,124	M193K	probably benign	Het
Csn1s2b	A	G	5: 87,822,303	Y131C	probably damaging	Het
D130043K22Rik	T	C	13: 24,882,556	S779P	probably damaging	Het
Dgat1	C	T	15: 76,503,019	C356Y	probably benign	Het
Dnah12	A	T	14: 26,778,883	T1543S	possibly damaging	Het
Dock3	T	C	9: 106,973,841	S821G	probably damaging	Het
Dock4	G	A	12: 40,725,780	C574Y	probably damaging	Het
Dr1	T	C	5: 108,269,738	I50T	probably damaging	Het
Dzip3	A	T	16: 48,958,417		probably null	Het
Eln	C	A	5: 134,703,782	*861L	probably null	Het
Eml6	T	A	11: 29,759,065	H24L	probably benign	Het
Eps8l3	A	C	3: 107,891,306	T503P	possibly damaging	Het
Fam69c	A	T	18: 84,736,863	I155F	possibly damaging	Het
Fgf1	C	A	18: 38,841,932	D155Y	possibly damaging	Het
Fkbp15	A	T	4: 62,324,194	M507K	probably damaging	Het
Flnb	A	T	14: 7,913,121	R1463S	probably benign	Het
Fras1	C	T	5: 96,645,873	T1018I	probably benign	Het
Gm10803	T	A	2: 93,564,188	C102S	probably damaging	Het
Gpatch1	C	A	7: 35,303,387	V233L	possibly damaging	Het
Gramd1a	T	C	7: 31,142,900		probably null	Het
Gsk3a	T	C	7: 25,235,708	T106A	possibly damaging	Het
Hap1	A	G	11: 100,349,476	V136A	possibly damaging	Het
Helq	A	T	5: 100,792,813	S307T	probably benign	Het
Herc2	T	A	7: 56,088,400	S264T	possibly damaging	Het
Htr4	A	G	18: 62,428,066	M133V	possibly damaging	Het
Iqca	C	A	1: 90,142,731	G133V	probably null	Het
Jakmip2	A	G	18: 43,581,831		probably null	Het
Ldhd	T	A	8: 111,628,113	S358C	possibly damaging	Het
Lrp1	A	T	10: 127,574,332	V1515E	probably damaging	Het
Ltbp3	A	G	19: 5,751,754	D700G	probably benign	Het
Map2	A	C	1: 66,415,622		probably null	Het
Map3k1	T	A	13: 111,757,150	E704V	probably damaging	Het
Mrpl39	A	T	16: 84,730,459	V180D	probably damaging	Het
Myef2	T	C	2: 125,098,058	M383V	probably damaging	Het
Myh3	A	G	11: 67,089,065	Y610C	probably damaging	Het
Olfr1328	A	G	4: 118,934,581	L89P	probably damaging	Het
Olfr555	T	C	7: 102,659,697	V292A	probably damaging	Het
Olfr969	T	A	9: 39,795,658	Y94*	probably null	Het
Oxtr	C	T	6: 112,477,177	R42Q	probably benign	Het
Pabpc1	T	A	15: 36,605,541	N135I	possibly damaging	Het
Pcsk6	T	A	7: 65,910,228	H100Q	probably damaging	Het
Pdss1	A	G	2: 22,915,519	K270E	probably damaging	Het
Pigx	A	T	16: 32,087,450	S18T	possibly damaging	Het
Plbd2	T	A	5: 120,485,784	T558S	probably damaging	Het
Plppr1	A	T	4: 49,325,617		probably null	Het
Plppr2	T	A	9: 21,944,421	V230E	possibly damaging	Het
Pola2	A	G	19: 5,953,063		probably null	Het
Ppp2r3a	A	G	9: 101,212,306	S273P	probably benign	Het
Prkdc	A	G	16: 15,676,989	E741G	probably benign	Het
Prom2	C	A	2: 127,540,162	V111L	possibly damaging	Het
Rapgef4	A	G	2: 72,226,568	D557G	possibly damaging	Het
Rgs10	T	C	7: 128,373,970	T158A	probably benign	Het
Rnf123	A	C	9: 108,077,398	Y40D	probably benign	Het
Rnf14	A	G	18: 38,308,189	T211A	probably benign	Het
Rp1l1	T	A	14: 64,028,968	S668T	probably damaging	Het
Sema6d	T	A	2: 124,665,149	L946Q	probably benign	Het
Sgcd	T	G	11: 47,195,042	K94Q	probably benign	Het
Skor2	A	T	18: 76,859,516	D311V	unknown	Het
Slc17a2	A	T	13: 23,812,640	I43F	probably damaging	Het
Spdye4c	C	A	2: 128,592,622	P40T	probably damaging	Het
Srp72	C	A	5: 76,987,870	Q216K	possibly damaging	Het
Tmem62	C	T	2: 121,007,057	T485I	probably benign	Het
Tmem94	G	T	11: 115,790,230	V432L	probably damaging	Het
Trio	T	C	15: 27,744,146		probably null	Het
Uggt2	A	T	14: 119,054,643	D581E	probably benign	Het
Unc5d	T	A	8: 28,759,081	S319C	probably damaging	Het
Vmn1r211	T	C	13: 22,851,643	I285V	probably damaging	Het
Vmn2r68	A	G	7: 85,233,366	Y393H	possibly damaging	Het
Vmn2r99	A	C	17: 19,377,945	N77T	probably damaging	Het

Other mutations in Magel2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00948:Magel2	APN	7	62379322	missense	unknown
IGL01391:Magel2	APN	7	62380884	missense	unknown
IGL01876:Magel2	APN	7	62378827	missense	possibly damaging	0.68
IGL02613:Magel2	APN	7	62380198	missense	unknown
IGL02617:Magel2	APN	7	62380198	missense	unknown
IGL03256:Magel2	APN	7	62380414	missense	unknown
IGL03382:Magel2	APN	7	62378713	missense	probably benign	0.00
astroclast2	UTSW	7	62380159	missense	unknown
IGL02837:Magel2	UTSW	7	62378260	missense	possibly damaging	0.93
R0398:Magel2	UTSW	7	62380551	nonsense	probably null
R0463:Magel2	UTSW	7	62378030	missense	possibly damaging	0.53
R1033:Magel2	UTSW	7	62380050	missense	unknown
R1271:Magel2	UTSW	7	62381014	missense	unknown
R1518:Magel2	UTSW	7	62380440	missense	unknown
R1539:Magel2	UTSW	7	62378809	missense	possibly damaging	0.91
R1686:Magel2	UTSW	7	62378240	missense	possibly damaging	0.53
R1782:Magel2	UTSW	7	62380857	nonsense	probably null
R1785:Magel2	UTSW	7	62377738	missense	unknown
R1786:Magel2	UTSW	7	62377738	missense	unknown
R1950:Magel2	UTSW	7	62378415	missense	possibly damaging	0.48
R2001:Magel2	UTSW	7	62379096	missense	unknown
R2002:Magel2	UTSW	7	62379096	missense	unknown
R2018:Magel2	UTSW	7	62379096	missense	unknown
R2019:Magel2	UTSW	7	62379096	missense	unknown
R2029:Magel2	UTSW	7	62380594	missense	unknown
R2070:Magel2	UTSW	7	62379096	missense	unknown
R2131:Magel2	UTSW	7	62377738	missense	unknown
R2132:Magel2	UTSW	7	62377738	missense	unknown
R2133:Magel2	UTSW	7	62377738	missense	unknown
R2134:Magel2	UTSW	7	62379096	missense	unknown
R2155:Magel2	UTSW	7	62380792	missense	unknown
R4294:Magel2	UTSW	7	62378767	missense	possibly damaging	0.86
R4591:Magel2	UTSW	7	62381089	missense	unknown
R4621:Magel2	UTSW	7	62377738	missense	unknown
R4816:Magel2	UTSW	7	62381092	missense	unknown
R4931:Magel2	UTSW	7	62380624	missense	unknown
R5031:Magel2	UTSW	7	62380104	missense	unknown
R5034:Magel2	UTSW	7	62379868	missense	unknown
R5042:Magel2	UTSW	7	62379606	missense	unknown
R5600:Magel2	UTSW	7	62379766	missense	unknown
R5769:Magel2	UTSW	7	62378113	missense	probably benign	0.02
R5980:Magel2	UTSW	7	62380596	missense	unknown
R5987:Magel2	UTSW	7	62378767	missense	probably benign	0.33
R6187:Magel2	UTSW	7	62377641	missense	unknown
R6267:Magel2	UTSW	7	62378679	missense	probably damaging	0.98
R6270:Magel2	UTSW	7	62380658	nonsense	probably null
R6316:Magel2	UTSW	7	62378719	missense	possibly damaging	0.68
R6444:Magel2	UTSW	7	62379999	missense	unknown
R6452:Magel2	UTSW	7	62380384	missense	unknown
R6797:Magel2	UTSW	7	62380159	missense	unknown
R6917:Magel2	UTSW	7	62377844	small deletion	probably benign
R7011:Magel2	UTSW	7	62378533	missense	possibly damaging	0.92
R7025:Magel2	UTSW	7	62379787	missense	unknown
R7335:Magel2	UTSW	7	62380776	missense	unknown
R7353:Magel2	UTSW	7	62379331	missense	unknown
R7413:Magel2	UTSW	7	62377844	small deletion	probably benign
R7570:Magel2	UTSW	7	62378910	missense	possibly damaging	0.53
R7714:Magel2	UTSW	7	62378382	missense	probably benign	0.08
R7836:Magel2	UTSW	7	62378368	missense	possibly damaging	0.73
R8289:Magel2	UTSW	7	62379127	missense	unknown
RF022:Magel2	UTSW	7	62380093	missense	unknown
Z1088:Magel2	UTSW	7	62378977	missense	possibly damaging	0.53
Z1177:Magel2	UTSW	7	62379607	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGCATGTAAGTCAGTGCCTGCC -3'
(R):5'- CAGAAGCCATCCATGTCTGAGACC -3'

Sequencing Primer
(F):5'- CCATCTTGATGGTGGCAGC -3'
(R):5'- ATGTCTGAGACCCACCCG -3'

Posted On

2014-05-14