Mutagenetix > Incidental Mutation

Incidental Mutation 'R7353:Magel2'

570739

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7353 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

62377010-62381640 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 62379331 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 661 (R661L)

Ref Sequence

ENSEMBL: ENSMUSP00000079265 (fasta)

Gene Model

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

AlphaFold

Q9QZ04

Predicted Effect

unknown
Transcript: ENSMUST00000080403
AA Change: R661L

SMART Domains

Protein: ENSMUSP00000079265
Gene: ENSMUSG00000056972
AA Change: R661L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110070M22Rik	C	A	13: 119,488,178	A11S	unknown	Het
Aadacl4	G	A	4: 144,617,920	V89I	probably damaging	Het
Abcc9	T	A	6: 142,601,005	I1369F	probably damaging	Het
Adgrf3	T	A	5: 30,198,497	I427F	probably damaging	Het
Alox12e	T	C	11: 70,321,435	Y139C	probably damaging	Het
Arhgef2	T	A	3: 88,635,686	V397E	possibly damaging	Het
Arhgef28	T	A	13: 98,075,202	Y91F	probably damaging	Het
Bcar3	A	G	3: 122,512,692	T454A	probably benign	Het
Bicc1	G	T	10: 70,947,900	T469K	probably benign	Het
Boc	C	T	16: 44,485,737	V1070M	unknown	Het
Ccdc88a	T	A	11: 29,463,368	N635K	probably benign	Het
Ccr2	T	C	9: 124,106,756	S358P	probably damaging	Het
Ccser2	T	C	14: 36,941,143	Q28R	possibly damaging	Het
Cenpf	T	A	1: 189,654,138	K1982*	probably null	Het
Csn1s2a	A	T	5: 87,785,302	I137F	possibly damaging	Het
Cttnbp2	A	T	6: 18,375,944	I1532K	possibly damaging	Het
Dnajc13	C	A	9: 104,230,031	R304L	possibly damaging	Het
Dopey1	T	A	9: 86,512,859	M664K	probably damaging	Het
Emilin3	T	A	2: 160,908,821	E336V	probably damaging	Het
Eml5	A	G	12: 98,825,424	Y63H		Het
Fbxo41	G	T	6: 85,479,976	R404S	possibly damaging	Het
Gm8897	G	A	5: 11,416,436	D7N	possibly damaging	Het
Gpr155	A	T	2: 73,367,491	Y456*	probably null	Het
Gpr156	T	A	16: 37,992,161	N286K	probably damaging	Het
Kcna5	A	G	6: 126,534,845	S107P	probably benign	Het
Kcne2	A	T	16: 92,296,822	H79L	possibly damaging	Het
Kcnh4	T	A	11: 100,757,199	M113L	probably benign	Het
Lad1	T	A	1: 135,827,775	L263Q	probably damaging	Het
Lctl	G	A	9: 64,126,967	G296D	probably damaging	Het
Lmtk3	A	T	7: 45,788,000	I205F	possibly damaging	Het
Mcm10	G	A	2: 5,007,109	P180S	possibly damaging	Het
Mia3	G	T	1: 183,327,392	A446D		Het
N4bp2	G	A	5: 65,806,371	V588M	probably benign	Het
Naip6	C	T	13: 100,299,751	V755M	probably benign	Het
Neurl1a	T	C	19: 47,240,660	V213A	probably damaging	Het
Nrd1	A	G	4: 109,039,749	T522A	probably damaging	Het
Ntng1	T	C	3: 110,135,447	Q21R	probably damaging	Het
Nup160	T	C	2: 90,703,952	L707S	probably damaging	Het
Oas2	A	T	5: 120,738,522	V452D	probably damaging	Het
Olfr3	A	G	2: 36,812,903	L63P	probably damaging	Het
Olfr350	A	T	2: 36,850,069	M8L	probably benign	Het
Olfr351	G	A	2: 36,859,668	R227*	probably null	Het
Olfr519	A	G	7: 108,894,222	F67L	probably damaging	Het
Olfr593	A	C	7: 103,212,309	T150P	probably damaging	Het
Plekhg1	A	T	10: 3,964,327	T1405S		Het
Pnrc1	G	A	4: 33,248,300	P33L	probably damaging	Het
Prkag2	A	T	5: 24,880,686	V312E	possibly damaging	Het
Rps17	T	A	7: 81,344,345	E76V	possibly damaging	Het
Rsph10b	G	A	5: 143,967,220	G672S	possibly damaging	Het
Slc2a13	T	C	15: 91,321,604	N460S	probably benign	Het
Slco2b1	A	T	7: 99,690,557	C56S	possibly damaging	Het
Spn	T	C	7: 127,137,006	T110A	probably benign	Het
Sult2a8	T	C	7: 14,413,715	N217S	possibly damaging	Het
Tbx2	C	A	11: 85,833,489	T128N	probably damaging	Het
Tecpr2	A	T	12: 110,967,844	M1313L	probably benign	Het
Tmc2	G	A	2: 130,196,577		probably null	Het
Tstd1	G	T	1: 171,419,955	A69S	probably damaging	Het
Txnrd3	A	G	6: 89,661,585	D252G	probably benign	Het
Ulk2	T	C	11: 61,819,348	N345D	probably damaging	Het
Unc13c	T	C	9: 73,574,073	D1694G	probably benign	Het
Vill	T	C	9: 119,065,493	V406A	probably damaging	Het
Vmn2r115	T	C	17: 23,345,913	V258A	possibly damaging	Het
Vmn2r82	T	A	10: 79,396,618	M817K	probably benign	Het
Xpnpep3	T	C	15: 81,430,887	S263P	probably benign	Het
Zfp980	A	G	4: 145,702,144	D481G	probably benign	Het
Zmpste24	A	G	4: 121,095,581	S81P	probably damaging	Het
Znrf4	A	G	17: 56,512,169	V46A	probably benign	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
R1682:Magel2	UTSW	7	62380235	missense	unknown
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
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
R8717:Magel2	UTSW	7	62377672	missense	unknown
R8903:Magel2	UTSW	7	62379693	missense	unknown
R8911:Magel2	UTSW	7	62379789	missense	unknown
R8971:Magel2	UTSW	7	62380251	missense	unknown
R9096:Magel2	UTSW	7	62380549	missense	unknown
R9264:Magel2	UTSW	7	62378596	missense	possibly damaging	0.95
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'- ATTGCCCACCCATCATCTGG -3'
(R):5'- CCATACGTGATCGAGTGGAG -3'

Sequencing Primer
(F):5'- TCCCGGTTCCACAGGAGATC -3'
(R):5'- AGTTCTGCCTGCAAGCCAGAG -3'

Posted On

2019-09-13