Incidental Mutation 'R4931:Magel2'
ID 380561
Institutional Source Beutler Lab
Gene Symbol Magel2
Ensembl Gene ENSMUSG00000056972
Gene Name MAGE family member L2
Synonyms NDNL1, nM15, ns7, Mage-l2
MMRRC Submission 042532-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4931 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 62026758-62031388 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 62030372 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1092 (D1092G)
Ref Sequence ENSEMBL: ENSMUSP00000079265 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080403]
AlphaFold Q9QZ04
Predicted Effect unknown
Transcript: ENSMUST00000080403
AA Change: D1092G
SMART Domains Protein: ENSMUSP00000079265
Gene: ENSMUSG00000056972
AA Change: D1092G

DomainStartEndE-ValueType
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 0.0885 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency 95% (78/82)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004B18Rik A G 3: 145,643,875 (GRCm39) D21G probably benign Het
4930562C15Rik T C 16: 4,678,910 (GRCm39) L68P possibly damaging Het
Ache A G 5: 137,290,176 (GRCm39) I414V probably benign Het
Acy1 G A 9: 106,310,390 (GRCm39) H308Y probably damaging Het
Aldh1b1 A C 4: 45,803,661 (GRCm39) I400L probably benign Het
Ankrd40 T A 11: 94,225,647 (GRCm39) L226Q probably benign Het
B3gnt9 T C 8: 105,980,876 (GRCm39) T171A probably benign Het
Ccdc33 T C 9: 57,977,134 (GRCm39) Y289C probably damaging Het
Cd209f A T 8: 4,153,688 (GRCm39) I187N probably damaging Het
Cers6 T G 2: 68,935,456 (GRCm39) S319A probably damaging Het
Chrna4 A G 2: 180,670,665 (GRCm39) S364P probably benign Het
Chrnb3 T C 8: 27,884,258 (GRCm39) S317P probably damaging Het
Dapk1 T C 13: 60,908,774 (GRCm39) V1129A probably benign Het
Dhx9 G A 1: 153,348,419 (GRCm39) P302L probably benign Het
Dnaaf9 A G 2: 130,583,793 (GRCm39) F496L possibly damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Duox2 T C 2: 122,127,236 (GRCm39) N147S probably benign Het
Dytn T G 1: 63,672,837 (GRCm39) E522A probably benign Het
E130114P18Rik T C 4: 97,608,524 (GRCm39) D27G unknown Het
Egf A G 3: 129,505,117 (GRCm39) F118S probably damaging Het
Eif2d T A 1: 131,082,128 (GRCm39) F73L probably damaging Het
Eps8l1 A G 7: 4,474,240 (GRCm39) E237G possibly damaging Het
Espl1 A G 15: 102,214,165 (GRCm39) E664G probably benign Het
Fbrsl1 A T 5: 110,526,895 (GRCm39) S373T possibly damaging Het
Fras1 T A 5: 96,784,699 (GRCm39) F894Y probably benign Het
Gpatch8 T C 11: 102,372,050 (GRCm39) E496G unknown Het
Gucy1a2 A G 9: 3,759,588 (GRCm39) K465E probably damaging Het
Igdcc4 A G 9: 65,031,297 (GRCm39) T459A possibly damaging Het
Itgad A T 7: 127,803,797 (GRCm39) I64F probably damaging Het
Itgb2l T A 16: 96,238,649 (GRCm39) N50I probably damaging Het
Kif13a A G 13: 46,962,531 (GRCm39) I478T probably damaging Het
Krt31 G A 11: 99,940,983 (GRCm39) T109I probably benign Het
Ltbr G T 6: 125,284,437 (GRCm39) probably null Het
Minar1 T C 9: 89,483,705 (GRCm39) H564R probably benign Het
Mindy3 A T 2: 12,401,024 (GRCm39) N231K probably damaging Het
Mpnd T G 17: 56,319,362 (GRCm39) probably benign Het
Mtus2 C T 5: 148,014,226 (GRCm39) L340F probably benign Het
Nanog G A 6: 122,684,865 (GRCm39) A17T possibly damaging Het
Ndufa9 G T 6: 126,813,283 (GRCm39) A181E probably damaging Het
Or52z14 T G 7: 103,253,581 (GRCm39) L240R probably benign Het
Or7e175 A T 9: 20,048,858 (GRCm39) I149F probably benign Het
Pprc1 ATCCTCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTC 19: 46,059,755 (GRCm39) probably benign Het
Pramel18 T C 4: 101,766,367 (GRCm39) V17A possibly damaging Het
Prkacb T C 3: 146,453,732 (GRCm39) I211V possibly damaging Het
Ptpn14 C G 1: 189,583,474 (GRCm39) L774V probably benign Het
Rad1 T C 15: 10,492,848 (GRCm39) probably benign Het
Rims1 G T 1: 22,573,028 (GRCm39) P391Q probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Sf3b3 C T 8: 111,542,961 (GRCm39) R832Q probably benign Het
Slc12a2 A G 18: 58,068,035 (GRCm39) D975G possibly damaging Het
Slitrk6 A G 14: 110,987,811 (GRCm39) L632P probably damaging Het
Spire2 A G 8: 124,095,523 (GRCm39) D542G possibly damaging Het
Sppl3 A T 5: 115,220,373 (GRCm39) Q95L probably damaging Het
Stat5b C A 11: 100,675,080 (GRCm39) E710* probably null Het
Tcl1 G T 12: 105,188,872 (GRCm39) H14N probably damaging Het
Ten1 T C 11: 116,096,555 (GRCm39) F70L probably benign Het
Tnfrsf13b A T 11: 61,031,763 (GRCm39) T35S possibly damaging Het
Tpcn2 G A 7: 144,821,046 (GRCm39) P336L probably benign Het
Trf C A 9: 103,105,247 (GRCm39) D22Y probably damaging Het
Ttyh1 A G 7: 4,136,943 (GRCm39) probably benign Het
Vmn2r103 A T 17: 20,032,031 (GRCm39) I602F probably benign Het
Zfp296 G T 7: 19,313,637 (GRCm39) C164F possibly damaging Het
Zfp352 A G 4: 90,112,541 (GRCm39) Y227C probably damaging Het
Zfp599 A T 9: 22,169,419 (GRCm39) W18R probably damaging Het
Other mutations in Magel2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GTCTCAGACATGGATGGCTTC -3'
(R):5'- GATGAGGCTCAAGACCACCATC -3'

Sequencing Primer
(F):5'- ATGGCTTCTGAGGTCCCAAG -3'
(R):5'- CACCATCAGGAGGCTGAACTTTG -3'
Posted On 2016-04-15