Mutagenetix > Incidental Mutation

Incidental Mutation 'R5987:Magel2'

481729

Institutional Source

Beutler Lab

Gene Symbol

Magel2

Ensembl Gene

ENSMUSG00000056972

Gene Name

MAGE family member L2

Synonyms

NDNL1, nM15, ns7, Mage-l2

MMRRC Submission

044167-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5987 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

62026758-62031388 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62028515 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 473 (V473A)

Ref Sequence

ENSEMBL: ENSMUSP00000079265 (fasta)

Gene Model

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

AlphaFold

Q9QZ04

Predicted Effect

probably benign
Transcript: ENSMUST00000080403
AA Change: V473A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000079265
Gene: ENSMUSG00000056972
AA Change: V473A

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: 99.9%
3x: 99.4%
10x: 97.2%
20x: 91.2%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	C	1: 71,297,257 (GRCm39)	L2411R	probably damaging	Het
Als2	A	G	1: 59,245,746 (GRCm39)	W577R	probably damaging	Het
Aox1	C	A	1: 58,346,518 (GRCm39)	R551S	probably benign	Het
Areg	A	T	5: 91,294,577 (GRCm39)	H245L	possibly damaging	Het
Arhgap35	T	C	7: 16,297,392 (GRCm39)	T558A	possibly damaging	Het
Arhgef28	A	T	13: 98,073,368 (GRCm39)	C1322*	probably null	Het
Arhgef38	T	C	3: 132,912,719 (GRCm39)	R107G	possibly damaging	Het
Atf7ip	T	A	6: 136,548,500 (GRCm39)	F695L	probably damaging	Het
AW209491	C	T	13: 14,812,365 (GRCm39)	A406V	probably benign	Het
Bche	T	G	3: 73,556,011 (GRCm39)	Q549P	possibly damaging	Het
Blnk	A	G	19: 40,917,733 (GRCm39)	F417L	possibly damaging	Het
Bloc1s1	T	G	10: 128,759,255 (GRCm39)	K17T	probably damaging	Het
C330018D20Rik	G	T	18: 57,090,968 (GRCm39)	T65K	probably damaging	Het
Ccdc168	A	T	1: 44,096,417 (GRCm39)	N1560K	probably benign	Het
Cers1	T	A	8: 70,774,228 (GRCm39)	S162T	possibly damaging	Het
Cgn	T	C	3: 94,686,832 (GRCm39)	K157E	probably benign	Het
Cldn7	G	A	11: 69,858,494 (GRCm39)	R196Q	probably benign	Het
Clrn2	C	A	5: 45,611,369 (GRCm39)	Q73K	probably benign	Het
Cmss1	A	G	16: 57,122,608 (GRCm39)	V262A	probably benign	Het
Cpb2	T	A	14: 75,498,128 (GRCm39)	V97E	probably damaging	Het
Ctnnd2	G	A	15: 30,683,387 (GRCm39)	V463I	probably benign	Het
Cyp7a1	A	T	4: 6,268,476 (GRCm39)	S416R	probably benign	Het
Dip2b	C	T	15: 100,087,960 (GRCm39)	R965C	probably damaging	Het
Dkk3	T	C	7: 111,749,865 (GRCm39)	T102A	probably benign	Het
Dmap1	C	A	4: 117,538,039 (GRCm39)		probably null	Het
Dnah12	C	A	14: 26,608,828 (GRCm39)	D3872E	possibly damaging	Het
Dnah7b	A	G	1: 46,158,558 (GRCm39)		probably null	Het
Dnai1	C	T	4: 41,632,391 (GRCm39)	T575I	probably benign	Het
Dsg1a	T	A	18: 20,464,599 (GRCm39)	Y365N	probably damaging	Het
Dusp11	T	A	6: 85,936,215 (GRCm39)	K18*	probably null	Het
E2f2	A	T	4: 135,900,245 (GRCm39)	T52S	probably benign	Het
Elavl4	A	G	4: 110,147,841 (GRCm39)	L13S	probably benign	Het
Epor	T	C	9: 21,873,572 (GRCm39)	D59G	possibly damaging	Het
Eral1	A	G	11: 77,971,059 (GRCm39)	C43R	possibly damaging	Het
Fam135b	A	G	15: 71,362,697 (GRCm39)	V228A	probably benign	Het
Gba1	T	C	3: 89,113,129 (GRCm39)	S187P	probably damaging	Het
Gcc2	G	T	10: 58,091,669 (GRCm39)		probably benign	Het
Gdap2	C	A	3: 100,109,572 (GRCm39)		probably benign	Het
Gm10271	A	T	10: 116,808,497 (GRCm39)	F6L	probably damaging	Het
Gm10801	C	CGTG	2: 98,494,152 (GRCm39)		probably null	Het
Gpr160	T	C	3: 30,950,612 (GRCm39)	L228P	probably benign	Het
Gsdmc2	A	C	15: 63,702,715 (GRCm39)	V184G	probably benign	Het
Gtf2e2	A	T	8: 34,266,080 (GRCm39)	K252M	probably damaging	Het
Gtf2e2	G	T	8: 34,266,081 (GRCm39)	K252N	probably benign	Het
Gys1	T	C	7: 45,087,529 (GRCm39)	Y102H	probably benign	Het
H4c2	A	G	13: 23,941,209 (GRCm39)	D69G	probably damaging	Het
Ifit3b	A	C	19: 34,589,598 (GRCm39)	D258A	probably damaging	Het
Itpr3	T	A	17: 27,323,575 (GRCm39)	M1200K	probably damaging	Het
Kcng4	A	T	8: 120,353,098 (GRCm39)	F271I	probably damaging	Het
Klhdc2	C	T	12: 69,350,387 (GRCm39)	S144L	possibly damaging	Het
Lhcgr	A	G	17: 89,063,006 (GRCm39)	F222S	probably damaging	Het
Lrp5	C	G	19: 3,678,299 (GRCm39)	G519R	probably damaging	Het
Map1a	T	C	2: 121,134,776 (GRCm39)	V1864A	possibly damaging	Het
Mast4	T	A	13: 102,895,242 (GRCm39)	Q760H	probably damaging	Het
Mertk	A	G	2: 128,613,294 (GRCm39)	N437D	probably benign	Het
Mettl18	G	A	1: 163,824,344 (GRCm39)	V222I	probably benign	Het
Mical2	C	T	7: 111,934,155 (GRCm39)	T782M	probably benign	Het
Mocos	T	A	18: 24,819,750 (GRCm39)	V664E	probably damaging	Het
Neb	G	T	2: 52,185,306 (GRCm39)	N975K	probably benign	Het
Nectin3	A	T	16: 46,284,508 (GRCm39)	S59T	probably benign	Het
Nelfb	A	T	2: 25,093,900 (GRCm39)	M11K	probably damaging	Het
Nrp1	A	G	8: 129,202,650 (GRCm39)	N545S	probably damaging	Het
Or10ak11	T	C	4: 118,687,478 (GRCm39)	D53G	probably damaging	Het
Or2g1	T	A	17: 38,107,248 (GRCm39)	N304K	probably benign	Het
Or51b4	T	A	7: 103,530,907 (GRCm39)	D181V	probably damaging	Het
Or5b117	A	T	19: 13,431,324 (GRCm39)	S186T	possibly damaging	Het
Or5p67	T	A	7: 107,922,254 (GRCm39)	T210S	probably benign	Het
Or6c70	A	T	10: 129,710,390 (GRCm39)	F79I	probably damaging	Het
Or8g53	T	C	9: 39,683,836 (GRCm39)	T87A	probably benign	Het
P3h1	A	G	4: 119,103,862 (GRCm39)	H587R	probably damaging	Het
Paqr4	A	G	17: 23,958,832 (GRCm39)		probably null	Het
Pde12	A	G	14: 26,390,253 (GRCm39)	V152A	probably benign	Het
Ppip5k1	C	A	2: 121,180,972 (GRCm39)	E45*	probably null	Het
Ptch2	C	T	4: 116,967,254 (GRCm39)	A677V	probably benign	Het
Rgs12	A	G	5: 35,177,689 (GRCm39)	N93S	probably damaging	Het
Rif1	C	G	2: 51,985,856 (GRCm39)	L614V	probably damaging	Het
Rnf32	T	C	5: 29,408,145 (GRCm39)	S125P	probably damaging	Het
Robo4	A	G	9: 37,322,696 (GRCm39)	I850V	probably damaging	Het
Scap	T	A	9: 110,210,219 (GRCm39)	I876N	probably damaging	Het
Sin3a	A	G	9: 57,034,484 (GRCm39)	D1219G	possibly damaging	Het
Skint5	T	C	4: 113,743,005 (GRCm39)	E354G	unknown	Het
Spart	A	G	3: 55,033,962 (GRCm39)	D396G	probably benign	Het
Spindoc	G	A	19: 7,351,024 (GRCm39)	S311L	probably benign	Het
Spta1	G	T	1: 174,050,894 (GRCm39)	R1791L	probably damaging	Het
Tbck	T	C	3: 132,507,278 (GRCm39)	I750T	possibly damaging	Het
Tmem191	T	C	16: 17,094,334 (GRCm39)		probably null	Het
Trgv1	A	T	13: 19,524,474 (GRCm39)	Y66F	probably benign	Het
Vmn2r125	A	G	4: 156,702,292 (GRCm39)	Y26C	probably damaging	Het
Zbtb17	T	C	4: 141,192,128 (GRCm39)	C358R	possibly damaging	Het
Zfp180	G	A	7: 23,804,859 (GRCm39)	G426E	probably damaging	Het
Zfp445	A	G	9: 122,682,951 (GRCm39)	V330A	probably benign	Het
Zfp595	A	G	13: 67,465,688 (GRCm39)	C192R	probably damaging	Het
Zkscan4	A	G	13: 21,668,623 (GRCm39)	H387R	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
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
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'- CATTCGTACTGGTCACACACCC -3'
(R):5'- ATGATGGGTGGGCAATGCAC -3'

Sequencing Primer
(F):5'- GTACTGGTCACACACCCATTCG -3'
(R):5'- TGGGCAATGCACAGTCC -3'

Posted On

2017-06-26