Incidental Mutation 'R0463:Magel2'
ID 41482
Institutional Source Beutler Lab
Gene Symbol Magel2
Ensembl Gene ENSMUSG00000056972
Gene Name MAGE family member L2
Synonyms NDNL1, nM15, ns7, Mage-l2
MMRRC Submission 038663-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0463 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 62026758-62031388 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 62027778 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 227 (H227Q)
Ref Sequence ENSEMBL: ENSMUSP00000079265 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080403]
AlphaFold Q9QZ04
Predicted Effect possibly damaging
Transcript: ENSMUST00000080403
AA Change: H227Q

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000079265
Gene: ENSMUSG00000056972
AA Change: H227Q

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: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.5%
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A G 5: 109,884,926 (GRCm39) probably benign Het
Abcd2 C T 15: 91,043,327 (GRCm39) M620I probably benign Het
Ada T A 2: 163,572,271 (GRCm39) I243F probably benign Het
Adam12 T C 7: 133,576,145 (GRCm39) probably null Het
Adarb2 A T 13: 8,253,224 (GRCm39) probably benign Het
Adk A C 14: 21,473,604 (GRCm39) Q287P probably benign Het
Ahnak A G 19: 8,986,771 (GRCm39) probably benign Het
Aoc3 C T 11: 101,222,432 (GRCm39) R223W probably damaging Het
Aqp11 T C 7: 97,378,228 (GRCm39) D229G probably benign Het
Arhgap28 A G 17: 68,203,220 (GRCm39) S78P probably damaging Het
Bfsp2 T A 9: 103,303,854 (GRCm39) E383D possibly damaging Het
Bmpr1b A T 3: 141,563,191 (GRCm39) V251D possibly damaging Het
Calhm1 C T 19: 47,132,280 (GRCm39) V112I probably benign Het
Catsperd A G 17: 56,966,554 (GRCm39) D508G probably damaging Het
Cfap54 A G 10: 92,710,805 (GRCm39) probably null Het
Cfap70 A T 14: 20,498,631 (GRCm39) Y19N probably damaging Het
Chga A T 12: 102,529,210 (GRCm39) R396* probably null Het
Cntnap3 T C 13: 64,926,690 (GRCm39) E560G probably damaging Het
Csmd1 T C 8: 15,971,759 (GRCm39) T3024A probably damaging Het
Csrnp1 CCCTCCTCCTCCTCCTCCTC CCCTCCTCCTCCTCCTC 9: 119,801,841 (GRCm39) probably benign Het
Cysltr1 A G X: 105,622,261 (GRCm39) V75A possibly damaging Het
Dnaaf11 T A 15: 66,252,323 (GRCm39) M448L probably benign Het
Dnah2 A T 11: 69,313,952 (GRCm39) M4140K probably damaging Het
Dph5 A G 3: 115,722,352 (GRCm39) S277G probably benign Het
Eftud2 A T 11: 102,755,597 (GRCm39) D203E probably damaging Het
Egf A G 3: 129,499,882 (GRCm39) Y252H probably benign Het
Egf A G 3: 129,531,198 (GRCm39) S126P probably damaging Het
Faf1 C T 4: 109,748,138 (GRCm39) A481V probably benign Het
Fat2 A T 11: 55,153,655 (GRCm39) V3519D probably damaging Het
Fbln7 C A 2: 128,719,431 (GRCm39) A76E probably benign Het
Galnt1 A T 18: 24,387,582 (GRCm39) K49N probably benign Het
Glb1 ACCC ACC 9: 114,250,812 (GRCm39) probably null Het
Grk1 T C 8: 13,459,279 (GRCm39) Y277H probably damaging Het
Hap1 A G 11: 100,240,131 (GRCm39) L555P probably damaging Het
Ier3 T C 17: 36,133,000 (GRCm39) I94T possibly damaging Het
Il11 T C 7: 4,779,023 (GRCm39) T36A probably damaging Het
Il5ra A T 6: 106,708,851 (GRCm39) D296E probably damaging Het
Itk A T 11: 46,222,816 (GRCm39) V551E probably damaging Het
Kcna2 T A 3: 107,012,476 (GRCm39) D352E probably benign Het
Kif5a A T 10: 127,071,521 (GRCm39) S776T probably benign Het
Klrb1c T C 6: 128,757,366 (GRCm39) E233G probably benign Het
Kpna7 T C 5: 144,944,804 (GRCm39) K12R possibly damaging Het
Lhpp C T 7: 132,212,406 (GRCm39) probably benign Het
Lhx8 A T 3: 154,033,808 (GRCm39) probably null Het
Man1a A G 10: 53,950,594 (GRCm39) V176A probably damaging Het
Mapkbp1 T A 2: 119,853,632 (GRCm39) M1152K probably benign Het
Mcoln3 T A 3: 145,846,331 (GRCm39) L547* probably null Het
Myof T C 19: 37,904,952 (GRCm39) D1624G probably damaging Het
Myom2 T C 8: 15,154,123 (GRCm39) V687A probably benign Het
Nav1 C A 1: 135,379,945 (GRCm39) V1586F possibly damaging Het
Ndufb8 T C 19: 44,538,784 (GRCm39) E179G possibly damaging Het
Nfam1 T C 15: 82,885,684 (GRCm39) T223A probably damaging Het
Nrcam T A 12: 44,598,124 (GRCm39) V371E probably damaging Het
Nup210l A G 3: 90,087,518 (GRCm39) Q1097R probably null Het
Obox5 T A 7: 15,491,571 (GRCm39) M37K probably damaging Het
Obscn A T 11: 58,952,356 (GRCm39) N4270K probably benign Het
Or4d2 G A 11: 87,784,022 (GRCm39) H243Y probably damaging Het
Or5ak25 T A 2: 85,268,630 (GRCm39) S291C probably damaging Het
Or6c1 A G 10: 129,517,708 (GRCm39) M300T probably benign Het
Or8c15 G A 9: 38,120,360 (GRCm39) A2T probably benign Het
Or8k16 T C 2: 85,520,183 (GRCm39) S137P possibly damaging Het
Patj G A 4: 98,562,545 (GRCm39) E1505K probably damaging Het
Pnliprp1 T A 19: 58,726,628 (GRCm39) Y328* probably null Het
Ppp1r36 G A 12: 76,465,741 (GRCm39) E43K probably damaging Het
Ptch1 C T 13: 63,668,121 (GRCm39) V939I probably damaging Het
Rgs22 C A 15: 36,093,084 (GRCm39) K396N probably damaging Het
Rsrc1 A T 3: 67,088,194 (GRCm39) H176L probably damaging Het
Ryr3 A T 2: 112,492,046 (GRCm39) F3743L probably damaging Het
Scn7a C T 2: 66,506,084 (GRCm39) G1602R probably benign Het
Sftpc A T 14: 70,760,110 (GRCm39) V49E probably damaging Het
Slc16a10 A G 10: 39,916,612 (GRCm39) V430A probably benign Het
Slco4c1 A C 1: 96,795,645 (GRCm39) S138A possibly damaging Het
Snd1 T C 6: 28,724,955 (GRCm39) I501T probably benign Het
Stxbp2 T A 8: 3,682,559 (GRCm39) D49E probably damaging Het
Sytl4 A T X: 132,862,936 (GRCm39) D16E probably benign Het
Tbc1d9b G A 11: 50,035,894 (GRCm39) G130E probably benign Het
Tdrd6 T A 17: 43,936,452 (GRCm39) D1532V probably damaging Het
Tekt1 T C 11: 72,242,778 (GRCm39) D243G probably damaging Het
Tet2 A G 3: 133,192,427 (GRCm39) L669S possibly damaging Het
Tnnt3 A G 7: 142,066,072 (GRCm39) N201S probably benign Het
Trdn A G 10: 33,342,417 (GRCm39) probably null Het
Trim36 T C 18: 46,311,523 (GRCm39) E259G possibly damaging Het
Trpm1 C T 7: 63,870,002 (GRCm39) P436S probably benign Het
Vmn1r183 T A 7: 23,754,926 (GRCm39) L243Q probably damaging Het
Vps13b T C 15: 35,597,555 (GRCm39) S1032P probably damaging Het
Vps37d T C 5: 135,105,395 (GRCm39) E76G probably damaging Het
Vps72 A G 3: 95,028,615 (GRCm39) H202R probably benign Het
Wdr75 T C 1: 45,858,762 (GRCm39) S644P probably damaging Het
Wrn T A 8: 33,770,843 (GRCm39) E697V possibly damaging Het
Xirp2 A G 2: 67,345,262 (GRCm39) D2501G probably benign Het
Zfp472 T C 17: 33,194,936 (GRCm39) W24R probably damaging Het
Zmym6 T C 4: 127,016,565 (GRCm39) V782A 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
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
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'- TCTTCAACTCCGGGAGTCCTGATG -3'
(R):5'- GTCTGAATGATTGGACCTCTGGCAC -3'

Sequencing Primer
(F):5'- cctcctcctcctcctccc -3'
(R):5'- CACCTGGAGGATGGATCATCAC -3'
Posted On 2013-05-23