Mutagenetix > Incidental Mutation

Incidental Mutation 'R1271:Magel2'

151305

Institutional Source

Beutler Lab

Gene Symbol

Magel2

Ensembl Gene

ENSMUSG00000056972

Gene Name

MAGE family member L2

Synonyms

NDNL1, nM15, ns7, Mage-l2

MMRRC Submission

039337-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1271 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62026758-62031388 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62030762 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1222 (L1222P)

Ref Sequence

ENSEMBL: ENSMUSP00000079265 (fasta)

Gene Model

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

AlphaFold

Q9QZ04

Predicted Effect

unknown
Transcript: ENSMUST00000080403
AA Change: L1222P

SMART Domains

Protein: ENSMUSP00000079265
Gene: ENSMUSG00000056972
AA Change: L1222P

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: 96.5%
20x: 93.3%

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019D03Rik	A	T	1: 52,964,493 (GRCm39)	D78E	possibly damaging	Het
4930447C04Rik	A	T	12: 72,939,657 (GRCm39)	F419I	possibly damaging	Het
Abca14	T	C	7: 119,924,340 (GRCm39)	V1664A	probably damaging	Het
Acadvl	A	G	11: 69,905,526 (GRCm39)	S71P	probably damaging	Het
Adcy2	A	T	13: 68,790,617 (GRCm39)	C916S	probably damaging	Het
Atad2	T	C	15: 57,989,985 (GRCm39)	T164A	probably benign	Het
Ccdc18	A	T	5: 108,349,982 (GRCm39)	K1045*	probably null	Het
Cemip2	T	A	19: 21,801,268 (GRCm39)	I795N	possibly damaging	Het
Cfap43	C	T	19: 47,728,183 (GRCm39)	E1525K	probably benign	Het
Cfap43	G	T	19: 47,736,387 (GRCm39)	S1368Y	probably damaging	Het
Csmd3	T	A	15: 47,874,455 (GRCm39)	I610L	probably benign	Het
Des	A	T	1: 75,337,290 (GRCm39)	T77S	probably benign	Het
Fnip1	T	C	11: 54,394,123 (GRCm39)	V853A	probably benign	Het
Gabrg1	T	A	5: 70,934,487 (GRCm39)	D292V	probably damaging	Het
Gcm1	A	G	9: 77,966,859 (GRCm39)	N26S	probably benign	Het
Gpsm1	G	T	2: 26,234,684 (GRCm39)	R507L	probably damaging	Het
H2-M1	T	A	17: 36,982,137 (GRCm39)	T155S	probably benign	Het
Hapln3	T	C	7: 78,767,764 (GRCm39)	D210G	probably damaging	Het
Mphosph10	A	T	7: 64,039,832 (GRCm39)		probably null	Het
Mup6	A	T	4: 60,003,579 (GRCm39)		probably benign	Het
Nsmce1	T	A	7: 125,070,426 (GRCm39)	E128D	probably damaging	Het
Or4c11	T	A	2: 88,695,475 (GRCm39)	Y175*	probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Sorbs2	T	A	8: 46,249,004 (GRCm39)	S733T	probably damaging	Het
Stxbp5	A	T	10: 9,692,013 (GRCm39)	I377K	probably damaging	Het
Tnfsf4	T	A	1: 161,223,274 (GRCm39)	L41Q	probably damaging	Het
Tut7	A	C	13: 59,969,669 (GRCm39)	N75K	probably damaging	Het
Usp28	G	A	9: 48,947,261 (GRCm39)		probably null	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
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
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'- AGCTTAGACATCATCAACCGTGCC -3'
(R):5'- CATCATCGCTGTCATGGGACTCTTC -3'

Sequencing Primer
(F):5'- AAAGTTCAGCCTCCTGATGG -3'
(R):5'- ATGGGACTCTTCGGCGG -3'

Posted On

2014-01-29