Incidental Mutation 'R5042:Magel2'
ID 393254
Institutional Source Beutler Lab
Gene Symbol Magel2
Ensembl Gene ENSMUSG00000056972
Gene Name MAGE family member L2
Synonyms NDNL1, nM15, ns7, Mage-l2
MMRRC Submission 042632-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5042 (G1)
Quality Score 174
Status Validated
Chromosome 7
Chromosomal Location 62026758-62031388 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 62029354 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 753 (R753W)
Ref Sequence ENSEMBL: ENSMUSP00000079265 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080403]
AlphaFold Q9QZ04
Predicted Effect unknown
Transcript: ENSMUST00000080403
AA Change: R753W
SMART Domains Protein: ENSMUSP00000079265
Gene: ENSMUSG00000056972
AA Change: R753W

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 0.0869 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 89.8%
Validation Efficiency 100% (57/57)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik T A 7: 29,273,927 (GRCm39) noncoding transcript Het
4933413J09Rik C A 14: 26,097,436 (GRCm39) noncoding transcript Het
Aldh1a2 A G 9: 71,192,286 (GRCm39) I413V possibly damaging Het
Alpk2 C T 18: 65,483,579 (GRCm39) W143* probably null Het
Anpep G T 7: 79,489,217 (GRCm39) N318K probably benign Het
Art5 A T 7: 101,748,672 (GRCm39) L10H probably damaging Het
Atg2b T G 12: 105,587,521 (GRCm39) H1981P probably benign Het
B3gnt3 T C 8: 72,145,532 (GRCm39) T279A probably damaging Het
Bmp10 G T 6: 87,411,039 (GRCm39) E277D probably damaging Het
Ccdc180 A G 4: 45,916,255 (GRCm39) T191A probably damaging Het
Dars2 T A 1: 160,872,664 (GRCm39) probably benign Het
F5 T A 1: 164,047,020 (GRCm39) I2160N probably damaging Het
Fndc7 A T 3: 108,770,102 (GRCm39) V608D probably damaging Het
Gad1-ps A T 10: 99,281,516 (GRCm39) noncoding transcript Het
Gbp2b A G 3: 142,317,224 (GRCm39) K527E probably benign Het
Gm10719 T A 9: 3,018,970 (GRCm39) F72I probably damaging Het
Hes3 T A 4: 152,371,500 (GRCm39) S150C possibly damaging Het
Hp1bp3 T A 4: 137,949,419 (GRCm39) M1K probably null Het
Il17rd T A 14: 26,817,998 (GRCm39) V229E probably damaging Het
Iqch A G 9: 63,403,516 (GRCm39) M634T possibly damaging Het
Med26 A G 8: 73,250,919 (GRCm39) V60A probably damaging Het
Myo1d T A 11: 80,448,347 (GRCm39) D926V probably damaging Het
Nat1 T G 8: 67,944,228 (GRCm39) D201E probably benign Het
Nav3 G T 10: 109,605,129 (GRCm39) S981R probably benign Het
Nbn C A 4: 15,981,446 (GRCm39) L513M probably benign Het
Nfatc3 T C 8: 106,834,757 (GRCm39) V701A probably benign Het
Nlrp9a A G 7: 26,270,703 (GRCm39) D911G probably damaging Het
Npr2 A T 4: 43,647,002 (GRCm39) I712F probably damaging Het
Oplah G A 15: 76,189,909 (GRCm39) R235* probably null Het
Or10a48 A G 7: 108,424,678 (GRCm39) I176T possibly damaging Het
Pcdha11 T A 18: 37,144,649 (GRCm39) Y247N probably damaging Het
Pcdhga9 A G 18: 37,870,630 (GRCm39) Y153C probably damaging Het
Pkd1 A T 17: 24,788,861 (GRCm39) D873V probably benign Het
Pnpla1 A G 17: 29,100,021 (GRCm39) N296S probably benign Het
Ppfia3 A G 7: 44,991,765 (GRCm39) V839A probably damaging Het
Ppm1j A T 3: 104,690,036 (GRCm39) Q148L probably null Het
Prune2 T A 19: 17,097,161 (GRCm39) N888K possibly damaging Het
Sh3bgr A G 16: 96,007,066 (GRCm39) D12G probably benign Het
Snph T A 2: 151,442,977 (GRCm39) I35F possibly damaging Het
Spag17 A T 3: 99,979,465 (GRCm39) D1442V probably damaging Het
Spidr T C 16: 15,936,767 (GRCm39) T113A probably benign Het
St13 A T 15: 81,249,693 (GRCm39) N349K probably damaging Het
Ttll6 C T 11: 96,045,430 (GRCm39) S549F possibly damaging Het
Uap1l1 A T 2: 25,252,097 (GRCm39) S473T possibly damaging Het
Vmn1r54 T C 6: 90,246,422 (GRCm39) V112A possibly damaging Het
Vmn2r57 G A 7: 41,078,086 (GRCm39) S124L probably benign Het
Wasf2 A T 4: 132,903,875 (GRCm39) R28W probably benign Het
Wwp2 T A 8: 108,275,117 (GRCm39) N417K possibly damaging Het
Zc3h13 A T 14: 75,576,836 (GRCm39) D1648V 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
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
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'- AGGTACCTCCTCACTTCTGG -3'
(R):5'- GAAAGGTCTCTGATGTGGCAGG -3'

Sequencing Primer
(F):5'- ACTCAGATCGCCCATGTGGAG -3'
(R):5'- CAGGCAAGTTTTTCCAGGCAG -3'
Posted On 2016-06-15