Mutagenetix > Incidental Mutation

Incidental Mutation 'R2132:Magel2'

233390

Institutional Source

Beutler Lab

Gene Symbol

Magel2

Ensembl Gene

ENSMUSG00000056972

Gene Name

MAGE family member L2

Synonyms

NDNL1, nM15, ns7, Mage-l2

MMRRC Submission

040135-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2132 (G1)

Quality Score

161

Status

Not validated

Chromosome

Chromosomal Location

62026758-62031388 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 62027486 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 130 (H130L)

Ref Sequence

ENSEMBL: ENSMUSP00000079265 (fasta)

Gene Model

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

AlphaFold

Q9QZ04

Predicted Effect

unknown
Transcript: ENSMUST00000080403
AA Change: H130L

SMART Domains

Protein: ENSMUSP00000079265
Gene: ENSMUSG00000056972
AA Change: H130L

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

Meta Mutation Damage Score

0.0581

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

94% (117/124)

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: 122 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	G	5: 88,112,335 (GRCm39)		probably benign	Het
4930562C15Rik	A	C	16: 4,653,835 (GRCm39)	Q128P	unknown	Het
Abcc3	T	A	11: 94,258,426 (GRCm39)	K473M	probably benign	Het
Acacb	TGGGG	TGGG	5: 114,347,828 (GRCm39)		probably null	Het
Adgrg7	C	A	16: 56,588,281 (GRCm39)	A199S	probably damaging	Het
Akap13	G	T	7: 75,261,182 (GRCm39)	A1269S	probably benign	Het
Aox3	A	G	1: 58,209,002 (GRCm39)	H845R	probably damaging	Het
Ap2b1	T	A	11: 83,215,587 (GRCm39)		probably benign	Het
Atat1	A	G	17: 36,220,331 (GRCm39)	S54P	probably damaging	Het
Atp13a2	T	A	4: 140,732,327 (GRCm39)	M864K	probably damaging	Het
B3gnt3	G	A	8: 72,145,971 (GRCm39)	T186M	probably damaging	Het
Cars1	C	A	7: 143,146,211 (GRCm39)	R71M	probably damaging	Het
Castor2	G	A	5: 134,164,992 (GRCm39)	C187Y	probably damaging	Het
Ccdc157	A	T	11: 4,100,004 (GRCm39)	V116E	probably damaging	Het
Ccdc85a	G	A	11: 28,384,151 (GRCm39)	T408I	probably benign	Het
Celf1	G	T	2: 90,840,791 (GRCm39)	G353W	probably damaging	Het
Celsr1	T	A	15: 85,916,168 (GRCm39)	I602F	possibly damaging	Het
Cenpb	C	T	2: 131,021,226 (GRCm39)	V191M	probably damaging	Het
Cenpn	G	A	8: 117,661,536 (GRCm39)		probably null	Het
Cfap65	A	C	1: 74,946,850 (GRCm39)	C1287G	probably damaging	Het
Cmya5	G	A	13: 93,205,891 (GRCm39)	T3326I	probably damaging	Het
Cnn3	A	T	3: 121,245,584 (GRCm39)	E100V	probably damaging	Het
Col4a4	G	A	1: 82,475,581 (GRCm39)	R583C	unknown	Het
Commd7	A	C	2: 153,463,586 (GRCm39)		probably benign	Het
Csmd3	T	C	15: 48,320,899 (GRCm39)	T304A	probably benign	Het
Cyp4a14	A	T	4: 115,348,588 (GRCm39)	S325R	probably damaging	Het
Dclk2	T	C	3: 86,827,353 (GRCm39)	N42S	probably benign	Het
Dmrta1	A	T	4: 89,576,946 (GRCm39)	Q134L	probably damaging	Het
Dnaaf3	T	A	7: 4,526,800 (GRCm39)	I426L	probably benign	Het
Dnah17	G	A	11: 117,924,573 (GRCm39)	L3999F	probably damaging	Het
Dock6	A	G	9: 21,757,814 (GRCm39)	S97P	probably benign	Het
Dsg1a	T	A	18: 20,473,854 (GRCm39)	S976T	probably damaging	Het
Dstyk	T	A	1: 132,377,222 (GRCm39)	M29K	probably null	Het
Eif3i	A	T	4: 129,490,719 (GRCm39)	H18Q	probably benign	Het
Epm2a	A	G	10: 11,219,426 (GRCm39)	E71G	probably benign	Het
Eps15l1	A	T	8: 73,140,712 (GRCm39)	V260D	probably benign	Het
Faf1	A	G	4: 109,568,042 (GRCm39)	N34S	probably damaging	Het
Fat3	A	G	9: 16,158,015 (GRCm39)		probably null	Het
Fbxw10	T	A	11: 62,750,683 (GRCm39)	I422N	probably damaging	Het
Fcgbpl1	C	T	7: 27,854,899 (GRCm39)	P1842S	probably damaging	Het
Fkbp15	C	A	4: 62,246,136 (GRCm39)	G431W	probably damaging	Het
Flnb	A	C	14: 7,873,376 (GRCm38)	D224A	probably benign	Het
Flnc	G	A	6: 29,443,675 (GRCm39)	V566M	probably damaging	Het
Gli3	T	A	13: 15,900,134 (GRCm39)	S1174T	possibly damaging	Het
Glmn	A	T	5: 107,726,321 (GRCm39)	V93E	probably damaging	Het
Glrx2	T	C	1: 143,620,842 (GRCm39)	S74P	possibly damaging	Het
Gm5422	G	A	10: 31,124,929 (GRCm39)		noncoding transcript	Het
Gpi1	T	C	7: 33,905,339 (GRCm39)	K362E	probably damaging	Het
Gtpbp2	T	C	17: 46,472,128 (GRCm39)	M21T	probably benign	Het
Gxylt1	A	G	15: 93,142,851 (GRCm39)	*405R	probably null	Het
Heyl	T	C	4: 123,139,876 (GRCm39)	V145A	probably damaging	Het
Hhipl1	A	C	12: 108,277,949 (GRCm39)	E92D	probably damaging	Het
Ifi207	A	G	1: 173,557,337 (GRCm39)	F467S	possibly damaging	Het
Ift70b	G	T	2: 75,767,129 (GRCm39)	H541Q	probably damaging	Het
Igf2r	A	T	17: 12,941,095 (GRCm39)	I462N	probably benign	Het
Inpp5b	A	T	4: 124,678,961 (GRCm39)		probably benign	Het
Kansl2	A	G	15: 98,427,278 (GRCm39)	I201T	probably damaging	Het
Kcnh8	T	C	17: 53,200,961 (GRCm39)	V465A	probably damaging	Het
Kcnu1	T	A	8: 26,341,928 (GRCm39)	I91N	probably damaging	Het
Kif5c	T	A	2: 49,648,817 (GRCm39)		probably benign	Het
Klrc3	T	A	6: 129,618,501 (GRCm39)	Y94F	probably benign	Het
Lgals3bp	T	A	11: 118,284,113 (GRCm39)	T489S	probably benign	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Lmtk2	C	T	5: 144,111,806 (GRCm39)	T842I	possibly damaging	Het
Magi1	T	C	6: 93,674,255 (GRCm39)	E951G	probably damaging	Het
Mcm7	T	C	5: 138,167,364 (GRCm39)	Q86R	probably damaging	Het
Med12l	G	T	3: 59,172,703 (GRCm39)		probably null	Het
Morc2a	A	G	11: 3,629,787 (GRCm39)	E402G	possibly damaging	Het
Mphosph8	T	C	14: 56,916,161 (GRCm39)	C486R	probably benign	Het
Mpo	A	G	11: 87,688,187 (GRCm39)	D282G	possibly damaging	Het
Mtcl1	G	T	17: 66,650,618 (GRCm39)	H1616N	probably benign	Het
Myh10	A	G	11: 68,698,115 (GRCm39)		probably benign	Het
Myh8	A	G	11: 67,183,702 (GRCm39)	E777G	probably damaging	Het
Nid1	A	G	13: 13,684,071 (GRCm39)	H1186R	probably benign	Het
Nppb	T	A	4: 148,070,454 (GRCm39)	S8T	probably benign	Het
Nrp1	A	T	8: 129,224,997 (GRCm39)	E782D	probably damaging	Het
Ntrk3	G	A	7: 78,127,683 (GRCm39)		probably benign	Het
Or1ak2	A	G	2: 36,827,704 (GRCm39)	N191S	probably benign	Het
Or1j13	A	G	2: 36,370,059 (GRCm39)	S28P	possibly damaging	Het
Or2f1	C	A	6: 42,721,069 (GRCm39)	L33M	possibly damaging	Het
Or5al5	A	G	2: 85,961,605 (GRCm39)	V134A	possibly damaging	Het
Or5b99	T	A	19: 12,976,402 (GRCm39)	D17E	probably benign	Het
Or6f1	C	T	7: 85,970,687 (GRCm39)	V158M	possibly damaging	Het
Osbpl6	T	A	2: 76,416,558 (GRCm39)	I546K	probably damaging	Het
Pard6g	T	C	18: 80,160,523 (GRCm39)	V212A	probably damaging	Het
Pate6	T	G	9: 35,701,039 (GRCm39)		probably benign	Het
Pdlim4	A	G	11: 53,954,563 (GRCm39)	L48S	possibly damaging	Het
Phactr3	T	C	2: 177,925,759 (GRCm39)	F345L	probably benign	Het
Plcb1	T	A	2: 135,167,587 (GRCm39)	Y460*	probably null	Het
Prcp	T	A	7: 92,550,488 (GRCm39)	V95D	probably benign	Het
Rfwd3	A	T	8: 112,024,034 (GRCm39)	V96E	probably benign	Het
Ror1	A	G	4: 100,267,222 (GRCm39)	N308D	probably benign	Het
Sdccag8	C	A	1: 176,783,455 (GRCm39)	Q655K	probably damaging	Het
Senp1	T	A	15: 97,973,848 (GRCm39)	T132S	probably benign	Het
Skap1	T	C	11: 96,355,559 (GRCm39)	I10T	possibly damaging	Het
Slc9a4	T	G	1: 40,646,901 (GRCm39)		probably null	Het
Smad2	T	A	18: 76,421,155 (GRCm39)	C161*	probably null	Het
Spata31d1a	G	T	13: 59,848,857 (GRCm39)	D1090E	probably damaging	Het
Stard13	T	C	5: 150,968,633 (GRCm39)	Y879C	probably damaging	Het
Tdrd6	T	C	17: 43,935,724 (GRCm39)	T1775A	probably benign	Het
Tecpr1	T	A	5: 144,145,463 (GRCm39)	T595S	probably benign	Het
Terf1	A	G	1: 15,875,909 (GRCm39)	E3G	probably benign	Het
Tjp3	T	A	10: 81,113,888 (GRCm39)	M457L	possibly damaging	Het
Tnfrsf26	C	T	7: 143,171,577 (GRCm39)		probably null	Het
Tor1aip1	A	C	1: 155,883,308 (GRCm39)	M180R	probably damaging	Het
Trabd2b	A	T	4: 114,467,205 (GRCm39)	Q478L	probably benign	Het
Trim41	C	A	11: 48,698,419 (GRCm39)	G516W	probably damaging	Het
Ttc39a	A	G	4: 109,299,903 (GRCm39)	Y464C	probably damaging	Het
Unc5a	A	G	13: 55,138,896 (GRCm39)	S92G	probably damaging	Het
Unc5d	A	C	8: 29,365,557 (GRCm39)	S143A	possibly damaging	Het
Usp34	A	T	11: 23,414,556 (GRCm39)	H2833L	possibly damaging	Het
Vps35l	T	C	7: 118,393,798 (GRCm39)	Y516H	probably damaging	Het
Wdr17	T	G	8: 55,125,541 (GRCm39)	K446N	probably damaging	Het
Xirp2	A	T	2: 67,338,392 (GRCm39)	Q211L	possibly damaging	Het
Xkr7	G	A	2: 152,894,816 (GRCm39)	R256Q	probably benign	Het
Zfp236	T	C	18: 82,639,429 (GRCm39)	M1225V	probably benign	Het
Zfp268	T	A	4: 145,350,803 (GRCm39)		probably benign	Het
Zfp280d	T	C	9: 72,215,287 (GRCm39)	F133L	probably damaging	Het
Zfp747l1	T	C	7: 126,986,107 (GRCm39)	D8G	probably benign	Het
Zfp758	A	G	17: 22,594,951 (GRCm39)	H479R	probably damaging	Het
Zfp827	A	G	8: 79,912,350 (GRCm39)	N284S	possibly damaging	Het
Zfyve26	T	A	12: 79,315,208 (GRCm39)	I1423F	possibly 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
R1682:Magel2	UTSW	7	62,029,983 (GRCm39)	missense	unknown
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
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'- GCAGCTAAGTACGAATCTGGG -3'
(R):5'- AGGATGGGTCATAGGGTTCC -3'

Sequencing Primer
(F):5'- AGTGCCTGCAGTCCATAGC -3'
(R):5'- TCATAGGGTTCCCAGGAGG -3'

Posted On

2014-10-01