Incidental Mutation 'R1686:Magel2'
ID 189345
Institutional Source Beutler Lab
Gene Symbol Magel2
Ensembl Gene ENSMUSG00000056972
Gene Name MAGE family member L2
Synonyms NDNL1, nM15, ns7, Mage-l2
MMRRC Submission 039719-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1686 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 62026758-62031388 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 62027988 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 297 (H297Q)
Ref Sequence ENSEMBL: ENSMUSP00000079265 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080403]
AlphaFold Q9QZ04
Predicted Effect possibly damaging
Transcript: ENSMUST00000080403
AA Change: H297Q

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000079265
Gene: ENSMUSG00000056972
AA Change: H297Q

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 0.1044 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.9%
Validation Efficiency 100% (85/85)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik G A 10: 100,448,722 (GRCm39) V400I probably damaging Het
Abcb1b A G 5: 8,848,782 (GRCm39) N14S probably damaging Het
Adamts14 A G 10: 61,034,439 (GRCm39) Y1150H probably benign Het
Adgrg3 A G 8: 95,759,997 (GRCm39) N72S probably benign Het
Akain1 T A 17: 69,746,527 (GRCm39) F3I possibly damaging Het
Akr1c21 T C 13: 4,627,452 (GRCm39) L182P probably damaging Het
Arhgap21 A T 2: 20,886,659 (GRCm39) Y12N probably damaging Het
Aup1 A T 6: 83,032,226 (GRCm39) H131L probably damaging Het
Bag6 A G 17: 35,363,928 (GRCm39) T812A possibly damaging Het
Bmp2k A G 5: 97,211,392 (GRCm39) Y520C unknown Het
Calm4 T G 13: 3,888,302 (GRCm39) V136G probably damaging Het
Catsper2 A G 2: 121,230,523 (GRCm39) probably null Het
Cc2d2a A G 5: 43,896,713 (GRCm39) T1537A possibly damaging Het
Cntn2 A T 1: 132,454,049 (GRCm39) V319D possibly damaging Het
Cux1 G A 5: 136,304,235 (GRCm39) R1314* probably null Het
Cxcl12 A G 6: 117,150,508 (GRCm39) I79V probably damaging Het
Cyp2j6 T C 4: 96,412,014 (GRCm39) D418G probably benign Het
Ddx28 G C 8: 106,737,190 (GRCm39) D289E probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fam135a A C 1: 24,068,887 (GRCm39) S448A probably benign Het
Fbxo33 G T 12: 59,251,626 (GRCm39) N30K possibly damaging Het
Fgf12 A C 16: 28,217,093 (GRCm39) Y21D probably damaging Het
Galntl5 C T 5: 25,415,432 (GRCm39) S288L probably benign Het
Gart G T 16: 91,422,237 (GRCm39) A760D probably damaging Het
Gba2 A T 4: 43,573,869 (GRCm39) probably benign Het
Gm10518 C A 1: 179,631,357 (GRCm39) S139* probably null Het
Gm4781 A T 10: 100,232,837 (GRCm39) noncoding transcript Het
Gm9790 A G 3: 85,823,156 (GRCm39) noncoding transcript Het
Gmps G A 3: 63,893,075 (GRCm39) G127R probably damaging Het
Golim4 A T 3: 75,802,443 (GRCm39) V283E probably benign Het
Gprc5a A T 6: 135,055,918 (GRCm39) I122F possibly damaging Het
Gzmc T C 14: 56,471,341 (GRCm39) K67E probably benign Het
Hapln3 C A 7: 78,771,638 (GRCm39) V84L probably benign Het
Hif3a T A 7: 16,778,789 (GRCm39) N377Y possibly damaging Het
Ifi211 G A 1: 173,726,969 (GRCm39) H392Y probably damaging Het
Iqgap3 T A 3: 88,015,663 (GRCm39) probably benign Het
Itga10 T A 3: 96,559,141 (GRCm39) F410Y probably damaging Het
Jup T C 11: 100,263,260 (GRCm39) Y705C probably damaging Het
Khsrp C T 17: 57,332,597 (GRCm39) A228T probably benign Het
Lmntd2 C T 7: 140,790,998 (GRCm39) G445D probably damaging Het
Lyst T C 13: 13,809,290 (GRCm39) V320A possibly damaging Het
Mbd6 T C 10: 127,123,286 (GRCm39) E33G probably damaging Het
Mob3b A G 4: 34,985,910 (GRCm39) probably benign Het
Mroh2a T C 1: 88,162,334 (GRCm39) probably null Het
Mroh2a C T 1: 88,158,402 (GRCm39) R150* probably null Het
Mymk A T 2: 26,952,346 (GRCm39) W174R probably damaging Het
Nckap1 C T 2: 80,348,286 (GRCm39) S889N probably benign Het
Nipal3 T C 4: 135,174,599 (GRCm39) Y384C possibly damaging Het
Nt5c3b A G 11: 100,330,920 (GRCm39) probably benign Het
Obox6 T A 7: 15,567,750 (GRCm39) L232F probably damaging Het
Obscn A C 11: 58,997,113 (GRCm39) probably benign Het
Or7g12 T C 9: 18,899,839 (GRCm39) L185P probably damaging Het
Phkb A G 8: 86,748,278 (GRCm39) I706V probably benign Het
Plcb2 A G 2: 118,546,168 (GRCm39) probably benign Het
Plek2 T C 12: 78,941,184 (GRCm39) D216G probably damaging Het
Plxnb2 T C 15: 89,046,665 (GRCm39) Y855C probably damaging Het
Prkcz T C 4: 155,355,713 (GRCm39) T227A probably damaging Het
Psma7 A T 2: 179,679,215 (GRCm39) D184E probably benign Het
Rai14 T A 15: 10,592,282 (GRCm39) L204F probably damaging Het
Ralgapa2 A G 2: 146,199,920 (GRCm39) V1208A probably benign Het
Rapgef6 A G 11: 54,582,458 (GRCm39) R67G possibly damaging Het
Ryr2 C T 13: 11,618,665 (GRCm39) probably benign Het
Satb1 T C 17: 52,047,027 (GRCm39) S763G probably benign Het
Sdk1 A T 5: 142,020,292 (GRCm39) H690L probably benign Het
Sfrp5 A C 19: 42,190,143 (GRCm39) V103G possibly damaging Het
Six6 A G 12: 72,988,451 (GRCm39) E208G probably benign Het
Sspo A T 6: 48,437,334 (GRCm39) H1364L probably benign Het
Stard9 A T 2: 120,529,973 (GRCm39) T2077S probably benign Het
Tacr3 T C 3: 134,535,254 (GRCm39) L74P probably damaging Het
Tep1 T C 14: 51,074,245 (GRCm39) E1880G probably benign Het
Tgfb3 A T 12: 86,116,517 (GRCm39) probably benign Het
Thap7 G A 16: 17,346,576 (GRCm39) P136S probably damaging Het
Thoc2l T A 5: 104,667,789 (GRCm39) Y770* probably null Het
Tmc2 T C 2: 130,098,036 (GRCm39) V717A possibly damaging Het
Usp43 T A 11: 67,778,593 (GRCm39) S446C probably damaging Het
Vwa3a C T 7: 120,379,371 (GRCm39) S492L probably damaging Het
Wdhd1 T A 14: 47,493,672 (GRCm39) N16I probably damaging Het
Wdr95 A T 5: 149,516,566 (GRCm39) D327V probably damaging Het
Zfp128 T G 7: 12,624,563 (GRCm39) Y310* probably null 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
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'- TTCCCATTACGGGGACACCGATAG -3'
(R):5'- TGCCATGTCAAAGGCGTTGCTG -3'

Sequencing Primer
(F):5'- GGGACACCGATAGCCCAG -3'
(R):5'- TGTGGTGGCTTGCCAGC -3'
Posted On 2014-05-14