Mutagenetix > Incidental Mutations

Incidental Mutation 'R8971:Magel2'

683093

Institutional Source

Beutler Lab

Gene Symbol

Magel2

Ensembl Gene

ENSMUSG00000056972

Gene Name

melanoma antigen, family L, 2

Synonyms

nM15, ns7, NDNL1, Mage-l2

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8971 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

62377010-62381640 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 62380251 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 968 (I968L)

Ref Sequence

ENSEMBL: ENSMUSP00000079265 (fasta)

Gene Model

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

AlphaFold

Q9QZ04

Predicted Effect

unknown
Transcript: ENSMUST00000080403
AA Change: I968L

SMART Domains

Protein: ENSMUSP00000079265
Gene: ENSMUSG00000056972
AA Change: I968L

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: 99.9%
10x: 99.7%
20x: 99.0%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230112D13Rik	T	C	14: 34,514,426	H44R	unknown	Het
Acp6	C	T	3: 97,171,645	H254Y	probably damaging	Het
Acvrl1	A	G	15: 101,135,523	N97S	possibly damaging	Het
Afm	T	A	5: 90,548,816	V455E	probably damaging	Het
Ankrd44	G	T	1: 54,653,793	D927E	probably benign	Het
Ap2a2	T	C	7: 141,611,345	V275A	probably benign	Het
Arfgef2	A	T	2: 166,859,301	Q673L	probably damaging	Het
Atp6v0a2	T	C	5: 124,719,997	F814L	probably damaging	Het
Axdnd1	G	A	1: 156,391,946	A193V		Het
Bicra	T	A	7: 15,987,556	I679L	probably benign	Het
Ccm2l	G	A	2: 153,067,836	R36H	probably damaging	Het
Cd160	T	A	3: 96,805,786	D54V	probably damaging	Het
Cela3a	C	T	4: 137,405,911	G50D	probably benign	Het
Cep152	T	A	2: 125,579,850	R987*	probably null	Het
Cnnm2	T	C	19: 46,856,923	V618A	probably benign	Het
Crim1	G	A	17: 78,345,980	R593Q	possibly damaging	Het
Ctsc	A	G	7: 88,309,816	S435G	probably benign	Het
Dcbld1	G	T	10: 52,319,862	A460S	probably benign	Het
Dcbld2	A	G	16: 58,456,352	E502G	probably benign	Het
Dhx30	A	T	9: 110,084,445	L1207*	probably null	Het
Dlx2	A	T	2: 71,546,372	S7R	possibly damaging	Het
Dmwd	T	A	7: 19,081,048	I541N	probably damaging	Het
Dmxl1	T	G	18: 49,864,508	L588V	possibly damaging	Het
Dmxl1	C	T	18: 49,893,674	P1950S	probably damaging	Het
Dnhd1	T	A	7: 105,709,321	L3339*	probably null	Het
Elovl1	C	A	4: 118,431,512	P160Q	probably damaging	Het
Epg5	T	A	18: 77,979,219	L1059Q	probably damaging	Het
Fam149b	C	T	14: 20,352,709	S53F	probably benign	Het
Fat1	T	A	8: 45,042,294	C4140S	probably damaging	Het
Gria2	C	T	3: 80,707,893	V427I	probably damaging	Het
H2al2a	C	A	2: 17,996,726	A50S	probably damaging	Het
Hspbp1	T	C	7: 4,681,859	M132V	possibly damaging	Het
Igsf9	C	T	1: 172,484,466		probably benign	Het
Jup	C	T	11: 100,379,565	C372Y	probably damaging	Het
Katnb1	G	A	8: 95,096,359	R394Q	probably damaging	Het
Kif1b	A	T	4: 149,247,816	D553E	probably damaging	Het
Kif3a	T	A	11: 53,583,362	L251Q	probably damaging	Het
Klb	T	A	5: 65,375,683	I445K	probably damaging	Het
Klhl29	T	A	12: 5,140,710		probably null	Het
Lipf	A	G	19: 33,964,873	K68E	probably benign	Het
Lnx2	T	A	5: 147,033,426	I169L	probably benign	Het
Lrba	A	C	3: 86,615,081	I2223L	probably benign	Het
Lrp1	C	T	10: 127,556,027	D2890N	possibly damaging	Het
Lrp1b	T	C	2: 41,435,628	T926A		Het
Lrrc37a	T	A	11: 103,500,664	I1312F	probably benign	Het
Lrrc71	T	C	3: 87,739,846	H477R	possibly damaging	Het
Lrrc8e	T	C	8: 4,234,141	V122A	probably damaging	Het
Lsm14b	T	C	2: 180,025,314		probably null	Het
Mapkbp1	T	C	2: 120,019,569	V771A	probably benign	Het
Mtmr4	T	C	11: 87,602,800	S295P	probably benign	Het
Nanos3	T	A	8: 84,176,186	T116S	probably benign	Het
Nectin3	T	C	16: 46,448,902	D379G	probably benign	Het
Nelfa	T	C	5: 33,936,195	H14R	possibly damaging	Het
Nnt	A	G	13: 119,366,431	W593R	unknown	Het
Nudt2	A	T	4: 41,477,575	M19L	probably benign	Het
Olfr1026	T	C	2: 85,923,984	S239P	probably damaging	Het
Olfr1220	T	A	2: 89,097,547	K127*	probably null	Het
Olfr153	T	A	2: 87,532,236	C68S	probably benign	Het
Olfr308	T	A	7: 86,321,161	I264F	possibly damaging	Het
Olfr656	A	T	7: 104,618,260	T194S	probably damaging	Het
Palld	A	T	8: 61,516,701	D1196E	unknown	Het
Parl	A	G	16: 20,298,159	L96P	probably damaging	Het
Pip4k2a	T	C	2: 18,847,556	D305G	probably benign	Het
Pkhd1l1	T	C	15: 44,529,519	V1750A	possibly damaging	Het
Prkdc	A	G	16: 15,675,365	E712G	probably null	Het
Rasgrf2	T	C	13: 92,021,717	E532G	possibly damaging	Het
Rbp3	T	A	14: 33,955,835	L580Q	probably damaging	Het
Ribc2	G	T	15: 85,132,136		probably benign	Het
Rmnd5b	T	C	11: 51,624,495	S315G	probably benign	Het
Rp1l1	T	A	14: 64,021,996	V29E	probably damaging	Het
Sclt1	T	C	3: 41,727,106	T93A	probably benign	Het
Shroom1	T	A	11: 53,465,167	L348H	probably damaging	Het
Slc13a1	T	C	6: 24,090,786	K545E	probably benign	Het
Slc20a2	C	T	8: 22,540,380	P151S	probably damaging	Het
Slc22a4	T	C	11: 53,988,892	Y447C	probably damaging	Het
Slu7	C	A	11: 43,442,653	Q367K	probably benign	Het
Spen	T	C	4: 141,474,578	N2246S	possibly damaging	Het
Tac4	T	G	11: 95,265,219	I42S	possibly damaging	Het
Tmem87a	A	G	2: 120,360,060	V530A		Het
Tnrc6c	T	C	11: 117,749,263	I1208T	possibly damaging	Het
Vmn1r230	C	T	17: 20,847,059	T170I	possibly damaging	Het
Vps29	A	G	5: 122,360,149	D51G	probably benign	Het
Washc2	T	C	6: 116,254,438	L874P	probably damaging	Het
Wdr5b	T	C	16: 36,041,556	L15P	probably benign	Het
Zscan20	T	A	4: 128,586,054	Q881H	probably damaging	Het
Zscan20	T	G	4: 128,586,055	Q881P	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
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
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
R8717:Magel2	UTSW	7	62377672	missense	unknown
R8903:Magel2	UTSW	7	62379693	missense	unknown
R8911:Magel2	UTSW	7	62379789	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'- CAGCATGTAAGTCAGTGCCTG -3'
(R):5'- ATCCATGTCTGAGACCCACC -3'

Sequencing Primer
(F):5'- ATGTAAGTCAGTGCCTGCCATC -3'
(R):5'- TCTGAGACCCACCCGAGTC -3'

Posted On

2021-10-11