Mutagenetix > Incidental Mutation

Incidental Mutation 'R1682:Magel2'

189240

Institutional Source

Beutler Lab

Gene Symbol

Magel2

Ensembl Gene

ENSMUSG00000056972

Gene Name

MAGE family member L2

Synonyms

NDNL1, nM15, ns7, Mage-l2

MMRRC Submission

039718-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1682 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62026758-62031388 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 62029983 bp (GRCm39)

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]

AlphaFold

Q9QZ04

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: 84,283,043 (GRCm39)	D2203G	probably benign	Het
Acin1	A	G	14: 54,901,175 (GRCm39)	S629P	probably damaging	Het
Agbl2	T	A	2: 90,614,434 (GRCm39)	I22N	probably benign	Het
Ank1	A	G	8: 23,599,343 (GRCm39)	E796G	probably damaging	Het
Ankrd13d	A	G	19: 4,332,961 (GRCm39)	L13P	probably damaging	Het
Ankrd36	T	C	11: 5,557,143 (GRCm39)	S364P	possibly damaging	Het
Ap2a1	T	C	7: 44,565,362 (GRCm39)	T126A	probably benign	Het
Apob	A	G	12: 8,062,365 (GRCm39)	I3616V	probably benign	Het
Arl5a	A	T	2: 52,306,214 (GRCm39)	N39K	probably benign	Het
Baiap2	G	A	11: 119,888,366 (GRCm39)	R334H	probably damaging	Het
Bbox1	T	A	2: 110,122,893 (GRCm39)	N132I	possibly damaging	Het
Bcl11b	A	G	12: 107,882,908 (GRCm39)	L469P	probably damaging	Het
Brca1	A	G	11: 101,416,391 (GRCm39)	I581T	probably damaging	Het
Cacng2	T	C	15: 78,002,997 (GRCm39)	Y32C	probably damaging	Het
Capn9	G	T	8: 125,338,304 (GRCm39)		probably null	Het
Cdh18	A	G	15: 23,400,671 (GRCm39)	T290A	probably benign	Het
Cdk5rap2	C	T	4: 70,220,387 (GRCm39)	V593I	possibly damaging	Het
Cep128	G	C	12: 91,197,596 (GRCm39)	D91E	probably damaging	Het
Cep295	T	C	9: 15,245,217 (GRCm39)	M1080V	probably benign	Het
Coq8b	T	A	7: 26,939,549 (GRCm39)	M193K	probably benign	Het
Csn1s2b	A	G	5: 87,970,162 (GRCm39)	Y131C	probably damaging	Het
D130043K22Rik	T	C	13: 25,066,539 (GRCm39)	S779P	probably damaging	Het
Dgat1	C	T	15: 76,387,219 (GRCm39)	C356Y	probably benign	Het
Dipk1c	A	T	18: 84,754,988 (GRCm39)	I155F	possibly damaging	Het
Dnah12	A	T	14: 26,500,840 (GRCm39)	T1543S	possibly damaging	Het
Dock3	T	C	9: 106,851,040 (GRCm39)	S821G	probably damaging	Het
Dock4	G	A	12: 40,775,779 (GRCm39)	C574Y	probably damaging	Het
Dr1	T	C	5: 108,417,604 (GRCm39)	I50T	probably damaging	Het
Dzip3	A	T	16: 48,778,780 (GRCm39)		probably null	Het
Eln	C	A	5: 134,732,636 (GRCm39)	*861L	probably null	Het
Eml6	T	A	11: 29,709,065 (GRCm39)	H24L	probably benign	Het
Eps8l3	A	C	3: 107,798,622 (GRCm39)	T503P	possibly damaging	Het
Fgf1	C	A	18: 38,974,985 (GRCm39)	D155Y	possibly damaging	Het
Fkbp15	A	T	4: 62,242,431 (GRCm39)	M507K	probably damaging	Het
Flnb	A	T	14: 7,913,121 (GRCm38)	R1463S	probably benign	Het
Fras1	C	T	5: 96,793,732 (GRCm39)	T1018I	probably benign	Het
Gm10803	T	A	2: 93,394,533 (GRCm39)	C102S	probably damaging	Het
Gpatch1	C	A	7: 35,002,812 (GRCm39)	V233L	possibly damaging	Het
Gramd1a	T	C	7: 30,842,325 (GRCm39)		probably null	Het
Gsk3a	T	C	7: 24,935,133 (GRCm39)	T106A	possibly damaging	Het
Hap1	A	G	11: 100,240,302 (GRCm39)	V136A	possibly damaging	Het
Helq	A	T	5: 100,940,679 (GRCm39)	S307T	probably benign	Het
Herc2	T	A	7: 55,738,148 (GRCm39)	S264T	possibly damaging	Het
Htr4	A	G	18: 62,561,137 (GRCm39)	M133V	possibly damaging	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Jakmip2	A	G	18: 43,714,896 (GRCm39)		probably null	Het
Ldhd	T	A	8: 112,354,745 (GRCm39)	S358C	possibly damaging	Het
Lrp1	A	T	10: 127,410,201 (GRCm39)	V1515E	probably damaging	Het
Ltbp3	A	G	19: 5,801,782 (GRCm39)	D700G	probably benign	Het
Map2	A	C	1: 66,454,781 (GRCm39)		probably null	Het
Map3k1	T	A	13: 111,893,684 (GRCm39)	E704V	probably damaging	Het
Mrpl39	A	T	16: 84,527,347 (GRCm39)	V180D	probably damaging	Het
Myef2	T	C	2: 124,939,978 (GRCm39)	M383V	probably damaging	Het
Myh3	A	G	11: 66,979,891 (GRCm39)	Y610C	probably damaging	Het
Or10ak7	A	G	4: 118,791,778 (GRCm39)	L89P	probably damaging	Het
Or51h1	T	C	7: 102,308,904 (GRCm39)	V292A	probably damaging	Het
Or8g54	T	A	9: 39,706,954 (GRCm39)	Y94*	probably null	Het
Oxtr	C	T	6: 112,454,138 (GRCm39)	R42Q	probably benign	Het
Pabpc1	T	A	15: 36,605,785 (GRCm39)	N135I	possibly damaging	Het
Pcsk6	T	A	7: 65,559,976 (GRCm39)	H100Q	probably damaging	Het
Pdss1	A	G	2: 22,805,531 (GRCm39)	K270E	probably damaging	Het
Pigx	A	T	16: 31,906,268 (GRCm39)	S18T	possibly damaging	Het
Plbd2	T	A	5: 120,623,849 (GRCm39)	T558S	probably damaging	Het
Plppr1	A	T	4: 49,325,617 (GRCm39)		probably null	Het
Plppr2	T	A	9: 21,855,717 (GRCm39)	V230E	possibly damaging	Het
Pola2	A	G	19: 6,003,091 (GRCm39)		probably null	Het
Ppp2r3d	A	G	9: 101,089,505 (GRCm39)	S273P	probably benign	Het
Prkdc	A	G	16: 15,494,853 (GRCm39)	E741G	probably benign	Het
Prom2	C	A	2: 127,382,082 (GRCm39)	V111L	possibly damaging	Het
Rapgef4	A	G	2: 72,056,912 (GRCm39)	D557G	possibly damaging	Het
Rgs10	T	C	7: 127,975,694 (GRCm39)	T158A	probably benign	Het
Rnf123	A	C	9: 107,954,597 (GRCm39)	Y40D	probably benign	Het
Rnf14	A	G	18: 38,441,242 (GRCm39)	T211A	probably benign	Het
Rp1l1	T	A	14: 64,266,417 (GRCm39)	S668T	probably damaging	Het
Sema6d	T	A	2: 124,507,069 (GRCm39)	L946Q	probably benign	Het
Sgcd	T	G	11: 47,085,869 (GRCm39)	K94Q	probably benign	Het
Skor2	A	T	18: 76,947,211 (GRCm39)	D311V	unknown	Het
Slc34a1	A	T	13: 23,996,623 (GRCm39)	I43F	probably damaging	Het
Spdye4c	C	A	2: 128,434,542 (GRCm39)	P40T	probably damaging	Het
Srp72	C	A	5: 77,135,717 (GRCm39)	Q216K	possibly damaging	Het
Tmem62	C	T	2: 120,837,538 (GRCm39)	T485I	probably benign	Het
Tmem94	G	T	11: 115,681,056 (GRCm39)	V432L	probably damaging	Het
Trio	T	C	15: 27,744,232 (GRCm39)		probably null	Het
Uggt2	A	T	14: 119,292,055 (GRCm39)	D581E	probably benign	Het
Unc5d	T	A	8: 29,249,109 (GRCm39)	S319C	probably damaging	Het
Vmn1r211	T	C	13: 23,035,813 (GRCm39)	I285V	probably damaging	Het
Vmn2r68	A	G	7: 84,882,574 (GRCm39)	Y393H	possibly damaging	Het
Vmn2r99	A	C	17: 19,598,207 (GRCm39)	N77T	probably damaging	Het

Other mutations in Magel2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00948:Magel2	APN	7	62,029,070 (GRCm39)	missense	unknown
IGL01391:Magel2	APN	7	62,030,632 (GRCm39)	missense	unknown
IGL01876:Magel2	APN	7	62,028,575 (GRCm39)	missense	possibly damaging	0.68
IGL02613:Magel2	APN	7	62,029,946 (GRCm39)	missense	unknown
IGL02617:Magel2	APN	7	62,029,946 (GRCm39)	missense	unknown
IGL03256:Magel2	APN	7	62,030,162 (GRCm39)	missense	unknown
IGL03382:Magel2	APN	7	62,028,461 (GRCm39)	missense	probably benign	0.00
astroclast2	UTSW	7	62,029,907 (GRCm39)	missense	unknown
IGL02837:Magel2	UTSW	7	62,028,008 (GRCm39)	missense	possibly damaging	0.93
R0398:Magel2	UTSW	7	62,030,299 (GRCm39)	nonsense	probably null
R0463:Magel2	UTSW	7	62,027,778 (GRCm39)	missense	possibly damaging	0.53
R1033:Magel2	UTSW	7	62,029,798 (GRCm39)	missense	unknown
R1271:Magel2	UTSW	7	62,030,762 (GRCm39)	missense	unknown
R1518:Magel2	UTSW	7	62,030,188 (GRCm39)	missense	unknown
R1539:Magel2	UTSW	7	62,028,557 (GRCm39)	missense	possibly damaging	0.91
R1686:Magel2	UTSW	7	62,027,988 (GRCm39)	missense	possibly damaging	0.53
R1782:Magel2	UTSW	7	62,030,605 (GRCm39)	nonsense	probably null
R1785:Magel2	UTSW	7	62,027,486 (GRCm39)	missense	unknown
R1786:Magel2	UTSW	7	62,027,486 (GRCm39)	missense	unknown
R1950:Magel2	UTSW	7	62,028,163 (GRCm39)	missense	possibly damaging	0.48
R2001:Magel2	UTSW	7	62,028,844 (GRCm39)	missense	unknown
R2002:Magel2	UTSW	7	62,028,844 (GRCm39)	missense	unknown
R2018:Magel2	UTSW	7	62,028,844 (GRCm39)	missense	unknown
R2019:Magel2	UTSW	7	62,028,844 (GRCm39)	missense	unknown
R2029:Magel2	UTSW	7	62,030,342 (GRCm39)	missense	unknown
R2070:Magel2	UTSW	7	62,028,844 (GRCm39)	missense	unknown
R2131:Magel2	UTSW	7	62,027,486 (GRCm39)	missense	unknown
R2132:Magel2	UTSW	7	62,027,486 (GRCm39)	missense	unknown
R2133:Magel2	UTSW	7	62,027,486 (GRCm39)	missense	unknown
R2134:Magel2	UTSW	7	62,028,844 (GRCm39)	missense	unknown
R2155:Magel2	UTSW	7	62,030,540 (GRCm39)	missense	unknown
R4294:Magel2	UTSW	7	62,028,515 (GRCm39)	missense	possibly damaging	0.86
R4591:Magel2	UTSW	7	62,030,837 (GRCm39)	missense	unknown
R4621:Magel2	UTSW	7	62,027,486 (GRCm39)	missense	unknown
R4816:Magel2	UTSW	7	62,030,840 (GRCm39)	missense	unknown
R4931:Magel2	UTSW	7	62,030,372 (GRCm39)	missense	unknown
R5031:Magel2	UTSW	7	62,029,852 (GRCm39)	missense	unknown
R5034:Magel2	UTSW	7	62,029,616 (GRCm39)	missense	unknown
R5042:Magel2	UTSW	7	62,029,354 (GRCm39)	missense	unknown
R5600:Magel2	UTSW	7	62,029,514 (GRCm39)	missense	unknown
R5769:Magel2	UTSW	7	62,027,861 (GRCm39)	missense	probably benign	0.02
R5980:Magel2	UTSW	7	62,030,344 (GRCm39)	missense	unknown
R5987:Magel2	UTSW	7	62,028,515 (GRCm39)	missense	probably benign	0.33
R6187:Magel2	UTSW	7	62,027,389 (GRCm39)	missense	unknown
R6267:Magel2	UTSW	7	62,028,427 (GRCm39)	missense	probably damaging	0.98
R6270:Magel2	UTSW	7	62,030,406 (GRCm39)	nonsense	probably null
R6316:Magel2	UTSW	7	62,028,467 (GRCm39)	missense	possibly damaging	0.68
R6444:Magel2	UTSW	7	62,029,747 (GRCm39)	missense	unknown
R6452:Magel2	UTSW	7	62,030,132 (GRCm39)	missense	unknown
R6797:Magel2	UTSW	7	62,029,907 (GRCm39)	missense	unknown
R6917:Magel2	UTSW	7	62,027,592 (GRCm39)	small deletion	probably benign
R7011:Magel2	UTSW	7	62,028,281 (GRCm39)	missense	possibly damaging	0.92
R7025:Magel2	UTSW	7	62,029,535 (GRCm39)	missense	unknown
R7335:Magel2	UTSW	7	62,030,524 (GRCm39)	missense	unknown
R7353:Magel2	UTSW	7	62,029,079 (GRCm39)	missense	unknown
R7413:Magel2	UTSW	7	62,027,592 (GRCm39)	small deletion	probably benign
R7570:Magel2	UTSW	7	62,028,658 (GRCm39)	missense	possibly damaging	0.53
R7714:Magel2	UTSW	7	62,028,130 (GRCm39)	missense	probably benign	0.08
R7836:Magel2	UTSW	7	62,028,116 (GRCm39)	missense	possibly damaging	0.73
R8289:Magel2	UTSW	7	62,028,875 (GRCm39)	missense	unknown
R8717:Magel2	UTSW	7	62,027,420 (GRCm39)	missense	unknown
R8903:Magel2	UTSW	7	62,029,441 (GRCm39)	missense	unknown
R8911:Magel2	UTSW	7	62,029,537 (GRCm39)	missense	unknown
R8971:Magel2	UTSW	7	62,029,999 (GRCm39)	missense	unknown
R9096:Magel2	UTSW	7	62,030,297 (GRCm39)	missense	unknown
R9264:Magel2	UTSW	7	62,028,344 (GRCm39)	missense	possibly damaging	0.95
RF022:Magel2	UTSW	7	62,029,841 (GRCm39)	missense	unknown
Z1088:Magel2	UTSW	7	62,028,725 (GRCm39)	missense	possibly damaging	0.53
Z1177:Magel2	UTSW	7	62,029,355 (GRCm39)	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