Incidental Mutation 'R4591:Magel2'
ID 342827
Institutional Source Beutler Lab
Gene Symbol Magel2
Ensembl Gene ENSMUSG00000056972
Gene Name MAGE family member L2
Synonyms NDNL1, nM15, ns7, Mage-l2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4591 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 62026758-62031388 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 62030837 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 1247 (Q1247R)
Ref Sequence ENSEMBL: ENSMUSP00000079265 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080403]
AlphaFold Q9QZ04
Predicted Effect unknown
Transcript: ENSMUST00000080403
AA Change: Q1247R
SMART Domains Protein: ENSMUSP00000079265
Gene: ENSMUSG00000056972
AA Change: Q1247R

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110032F04Rik T C 3: 68,777,599 (GRCm39) S187P possibly damaging Het
4932438H23Rik T C 16: 90,852,959 (GRCm39) N59S probably damaging Het
Abca15 A T 7: 119,981,636 (GRCm39) D1030V probably damaging Het
Acmsd A T 1: 127,676,934 (GRCm39) N153I probably damaging Het
Adprh C A 16: 38,266,345 (GRCm39) V266L probably benign Het
Aldh5a1 G A 13: 25,107,991 (GRCm39) P217S probably damaging Het
Alpk2 A T 18: 65,438,894 (GRCm39) L1300Q probably benign Het
Alyref C T 11: 120,486,799 (GRCm39) R154Q probably benign Het
Ano6 T A 15: 95,841,308 (GRCm39) C468* probably null Het
Aox3 A T 1: 58,191,815 (GRCm39) I456F probably damaging Het
Art4 A G 6: 136,831,755 (GRCm39) Y129H probably damaging Het
Asb16 C A 11: 102,167,551 (GRCm39) H306N probably damaging Het
Atp8a2 C A 14: 59,892,078 (GRCm39) R1090L probably benign Het
Brap G T 5: 121,800,113 (GRCm39) V1F probably null Het
C1qb C A 4: 136,609,528 (GRCm39) G31W probably damaging Het
Cacna2d4 T C 6: 119,275,425 (GRCm39) Y666H probably benign Het
Casr T C 16: 36,320,732 (GRCm39) N472S probably benign Het
Ccdc91 T G 6: 147,491,963 (GRCm39) S282A unknown Het
Cd300lg A G 11: 101,937,006 (GRCm39) T164A probably benign Het
Cd79b A T 11: 106,202,872 (GRCm39) D243E probably damaging Het
Cdh6 C A 15: 13,051,572 (GRCm39) V354F possibly damaging Het
Cdhr2 A G 13: 54,863,497 (GRCm39) N126S probably benign Het
Cep192 A T 18: 67,968,039 (GRCm39) N841I probably damaging Het
Cngb1 T C 8: 95,980,012 (GRCm39) T963A probably damaging Het
Col16a1 A G 4: 129,955,592 (GRCm39) probably null Het
Coro1a A G 7: 126,302,164 (GRCm39) V61A probably damaging Het
Crocc T A 4: 140,745,983 (GRCm39) D1712V probably damaging Het
Ddn T C 15: 98,705,687 (GRCm39) D3G possibly damaging Het
Dnal1 T C 12: 84,180,627 (GRCm39) F89S probably benign Het
Dusp3 T A 11: 101,864,446 (GRCm39) probably benign Het
Dyrk3 C A 1: 131,057,895 (GRCm39) G58C probably damaging Het
Fat1 T C 8: 45,479,279 (GRCm39) F2775S probably benign Het
Frk A G 10: 34,481,829 (GRCm39) N373S probably benign Het
Glmn A G 5: 107,708,917 (GRCm39) probably null Het
Gm11565 A T 11: 99,805,769 (GRCm39) T54S possibly damaging Het
Gm14410 A G 2: 176,885,820 (GRCm39) I148T possibly damaging Het
Gm21834 T A 17: 58,048,880 (GRCm39) H112L possibly damaging Het
Gm5862 A G 5: 26,224,486 (GRCm39) I161T possibly damaging Het
Grid2 G T 6: 64,297,086 (GRCm39) G483V probably damaging Het
Hfm1 A T 5: 106,995,533 (GRCm39) S1293T probably benign Het
Il1a G A 2: 129,148,447 (GRCm39) R88W probably damaging Het
Il20rb A T 9: 100,357,043 (GRCm39) V29D possibly damaging Het
Ilvbl C T 10: 78,419,139 (GRCm39) L463F probably benign Het
Kif17 A G 4: 138,005,110 (GRCm39) E225G probably benign Het
Lrp2 A G 2: 69,366,419 (GRCm39) F227L probably damaging Het
Lrrc43 A G 5: 123,639,227 (GRCm39) M419V probably benign Het
Mamdc4 T A 2: 25,454,609 (GRCm39) M1068L possibly damaging Het
Mdn1 T G 4: 32,707,636 (GRCm39) S1642A probably damaging Het
Mtarc1 T C 1: 184,539,365 (GRCm39) E102G probably benign Het
Mtcl1 T C 17: 66,655,506 (GRCm39) E819G probably benign Het
Naa15 T C 3: 51,349,345 (GRCm39) L38P probably damaging Het
Nlrp3 A G 11: 59,440,048 (GRCm39) R542G probably benign Het
Or10c1 C T 17: 37,522,010 (GRCm39) V245I probably benign Het
Or4d2b A G 11: 87,780,375 (GRCm39) S116P probably benign Het
Or5ac19 A C 16: 59,089,776 (GRCm39) F85V possibly damaging Het
Or5b125-ps1 ACAC ACACGCAC 19: 13,056,266 (GRCm39) noncoding transcript Het
Pbxip1 T A 3: 89,353,467 (GRCm39) L249Q probably benign Het
Pla2g7 T C 17: 43,911,450 (GRCm39) S201P probably damaging Het
Psmd1 G T 1: 86,055,926 (GRCm39) V763F probably benign Het
Ptp4a2 A G 4: 129,740,308 (GRCm39) E124G probably benign Het
Rab6b T C 9: 103,044,373 (GRCm39) probably null Het
Rbks T A 5: 31,817,352 (GRCm39) K139M possibly damaging Het
Rgs22 T A 15: 36,100,282 (GRCm39) E268D probably benign Het
Slc16a9 T G 10: 70,118,710 (GRCm39) L343R probably damaging Het
Smagp T C 15: 100,519,860 (GRCm39) I55V probably damaging Het
Sox13 T C 1: 133,311,421 (GRCm39) S604G probably damaging Het
St6gal1 G T 16: 23,140,044 (GRCm39) V72F probably benign Het
Stxbp4 A G 11: 90,485,606 (GRCm39) V247A probably benign Het
Susd3 A T 13: 49,384,736 (GRCm39) M217K possibly damaging Het
Tas2r129 T A 6: 132,928,574 (GRCm39) N170K probably benign Het
Tmem245 C A 4: 56,910,204 (GRCm39) A515S probably damaging Het
Tpte T C 8: 22,817,791 (GRCm39) V259A probably benign Het
Trpa1 T C 1: 14,952,332 (GRCm39) probably null Het
Ttc28 G A 5: 111,371,147 (GRCm39) R532H probably damaging Het
Vwa5a A T 9: 38,646,916 (GRCm39) N529I possibly damaging Het
Zfp574 T C 7: 24,778,969 (GRCm39) probably benign 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
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'- TCACCAGTGTGTTTGTGAGAC -3'
(R):5'- CACAAAACTGTACAAAAGCTTTGGC -3'

Sequencing Primer
(F):5'- TTTGTGAGACACAGGTACCTAG -3'
(R):5'- GCTTTGGCAAATATAAAAACAGGCTG -3'
Posted On 2015-09-24