Incidental Mutation 'R8825:Mad2l2'
ID 673372
Institutional Source Beutler Lab
Gene Symbol Mad2l2
Ensembl Gene ENSMUSG00000029003
Gene Name MAD2 mitotic arrest deficient-like 2
Synonyms MAD2B, G1-453-4, 2310033C13Rik, REV7, repro22
MMRRC Submission 068728-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8825 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 148214841-148230156 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 148225277 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 9 (L9P)
Ref Sequence ENSEMBL: ENSMUSP00000030860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030858] [ENSMUST00000030860] [ENSMUST00000056965] [ENSMUST00000084129] [ENSMUST00000105706] [ENSMUST00000105707] [ENSMUST00000132698] [ENSMUST00000140049] [ENSMUST00000168503]
AlphaFold Q9D752
Predicted Effect probably benign
Transcript: ENSMUST00000030858
SMART Domains Protein: ENSMUSP00000030858
Gene: ENSMUSG00000055401

DomainStartEndE-ValueType
FBOX 7 48 1e-4 SMART
FBA 66 250 2.51e-113 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000030860
AA Change: L9P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000030860
Gene: ENSMUSG00000029003
AA Change: L9P

DomainStartEndE-ValueType
Pfam:HORMA 12 184 1e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000056965
SMART Domains Protein: ENSMUSP00000062348
Gene: ENSMUSG00000055401

DomainStartEndE-ValueType
FBOX 7 48 1e-4 SMART
FBA 66 250 2.51e-113 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000084129
AA Change: L9P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000081146
Gene: ENSMUSG00000029003
AA Change: L9P

DomainStartEndE-ValueType
Pfam:HORMA 13 167 4.2e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105706
SMART Domains Protein: ENSMUSP00000101331
Gene: ENSMUSG00000055401

DomainStartEndE-ValueType
FBOX 7 48 1e-4 SMART
FBA 66 250 2.51e-113 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105707
AA Change: L9P

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000101332
Gene: ENSMUSG00000029003
AA Change: L9P

DomainStartEndE-ValueType
Pfam:HORMA 13 171 4.3e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000132698
AA Change: L9P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000122774
Gene: ENSMUSG00000029003
AA Change: L9P

DomainStartEndE-ValueType
Pfam:HORMA 12 168 2e-27 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000140049
AA Change: L9P
SMART Domains Protein: ENSMUSP00000120481
Gene: ENSMUSG00000029003
AA Change: L9P

DomainStartEndE-ValueType
PDB:4FJO|C 32 107 1e-47 PDB
SCOP:d1go4a_ 32 107 1e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000168503
SMART Domains Protein: ENSMUSP00000130188
Gene: ENSMUSG00000055401

DomainStartEndE-ValueType
FBOX 7 48 1e-4 SMART
FBA 66 250 2.51e-113 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (61/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of the mitotic spindle assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. The encoded protein, which is similar to MAD2L1, is capable of interacting with ADAM9, ADAM15, REV1, and REV3 proteins. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous disruption of this gene causes partial lethality between E13.5 and weaning, reduced body size, small testes and ovaries, infertility, and abnormal primordial germ cell apoptosis. Homozygotes for a null allele show increased neuroblast apoptosis and accumulation of double strand breaks. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgap2 T A 2: 91,103,906 (GRCm39) L334Q probably damaging Het
Arhgef18 T A 8: 3,436,951 (GRCm39) L247Q probably damaging Het
Birc6 T A 17: 74,920,500 (GRCm39) C2100S probably damaging Het
Bpi A G 2: 158,109,670 (GRCm39) D206G probably benign Het
C6 T C 15: 4,761,170 (GRCm39) I10T possibly damaging Het
Cactin A G 10: 81,161,492 (GRCm39) T675A probably damaging Het
Cd200 G A 16: 45,215,157 (GRCm39) R165C probably benign Het
Cdkal1 C T 13: 29,538,777 (GRCm39) V461I probably benign Het
Ces2g C T 8: 105,693,954 (GRCm39) S430F probably benign Het
Clcn3 A T 8: 61,382,522 (GRCm39) H382Q probably damaging Het
Crem A T 18: 3,268,061 (GRCm39) V89E probably damaging Het
Crtc2 T A 3: 90,166,463 (GRCm39) M146K probably benign Het
Depdc1b T G 13: 108,521,316 (GRCm39) D374E possibly damaging Het
Dgkg T A 16: 22,381,519 (GRCm39) H477L probably benign Het
Dnhd1 T A 7: 105,343,174 (GRCm39) V1506D possibly damaging Het
Erfl A G 7: 24,628,682 (GRCm39) V60A possibly damaging Het
Exosc10 G A 4: 148,653,159 (GRCm39) probably null Het
Fem1al T C 11: 29,773,696 (GRCm39) E587G probably benign Het
Flnb G T 14: 7,887,566 (GRCm38) G459C probably damaging Het
Golgb1 A G 16: 36,739,809 (GRCm39) D2757G probably benign Het
Gsta4 T G 9: 78,116,121 (GRCm39) probably benign Het
Herc2 T A 7: 55,700,626 (GRCm39) M1K probably null Het
Hip1 C T 5: 135,450,976 (GRCm39) V879M probably damaging Het
Htt T C 5: 34,983,304 (GRCm39) Y968H probably benign Het
Ints11 T A 4: 155,969,587 (GRCm39) Y154* probably null Het
Itih5 A G 2: 10,195,231 (GRCm39) S208G probably benign Het
Lamb2 C T 9: 108,362,460 (GRCm39) T701I probably benign Het
Lgals3 T A 14: 47,617,557 (GRCm39) Y22* probably null Het
Macc1 T A 12: 119,409,587 (GRCm39) D118E probably benign Het
Mark2 T C 19: 7,318,571 (GRCm39) T6A probably benign Het
Mcat T C 15: 83,436,812 (GRCm39) N143S probably benign Het
Med10 T G 13: 69,962,046 (GRCm39) C144G unknown Het
Miga1 A T 3: 151,982,460 (GRCm39) F539I probably damaging Het
Mon2 A T 10: 122,849,776 (GRCm39) S1174T probably benign Het
Mycbp2 C A 14: 103,466,871 (GRCm39) W1330C probably damaging Het
Myo5b T C 18: 74,892,169 (GRCm39) S1612P possibly damaging Het
Nipal4 T C 11: 46,052,873 (GRCm39) I31V probably benign Het
Obox3 A T 7: 15,361,226 (GRCm39) V13E possibly damaging Het
Or2ag19 A T 7: 106,444,636 (GRCm39) I273F probably damaging Het
Or8g4 T C 9: 39,661,994 (GRCm39) F104S probably damaging Het
Ppic A G 18: 53,542,222 (GRCm39) V162A probably damaging Het
Prkg2 T C 5: 99,090,043 (GRCm39) K699R probably benign Het
Prl2c2 T A 13: 13,179,656 (GRCm39) L6F possibly damaging Het
Rnf148 G C 6: 23,654,378 (GRCm39) S206C probably benign Het
Sec16a A G 2: 26,313,586 (GRCm39) S474P Het
Sema5a T G 15: 32,689,498 (GRCm39) H1054Q probably benign Het
Slc6a18 C A 13: 73,813,751 (GRCm39) V521F probably null Het
Stat2 T A 10: 128,127,233 (GRCm39) D921E possibly damaging Het
Tcf24 G T 1: 10,031,224 (GRCm39) N42K unknown Het
Tgfb2 T A 1: 186,361,136 (GRCm39) N372Y probably damaging Het
Tktl2 A C 8: 66,966,319 (GRCm39) M626L possibly damaging Het
Tmem94 A G 11: 115,688,201 (GRCm39) D1220G probably benign Het
Trcg1 A G 9: 57,148,754 (GRCm39) T109A probably benign Het
Trim30a T A 7: 104,060,529 (GRCm39) K416* probably null Het
Trpm5 T C 7: 142,636,753 (GRCm39) K395E possibly damaging Het
Ufm1 T A 3: 53,771,093 (GRCm39) probably null Het
Unc13b T A 4: 43,237,683 (GRCm39) probably benign Het
Vmn2r16 T C 5: 109,487,019 (GRCm39) V80A probably benign Het
Vmn2r77 A T 7: 86,452,855 (GRCm39) Y524F probably benign Het
Zfp1007 T G 5: 109,826,746 (GRCm39) T5P probably damaging Het
Zfp64 T C 2: 168,793,552 (GRCm39) S65G probably benign Het
Zng1 A G 19: 24,926,601 (GRCm39) V150A probably benign Het
Other mutations in Mad2l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0600:Mad2l2 UTSW 4 148,225,381 (GRCm39) missense possibly damaging 0.74
R1574:Mad2l2 UTSW 4 148,227,429 (GRCm39) unclassified probably benign
R6092:Mad2l2 UTSW 4 148,228,067 (GRCm39) missense probably damaging 1.00
R6927:Mad2l2 UTSW 4 148,225,411 (GRCm39) missense possibly damaging 0.77
Predicted Primers PCR Primer
(F):5'- TGGAACCTGAGGTCGAAACC -3'
(R):5'- TCTTGCGCTTCTGGAAGATGC -3'

Sequencing Primer
(F):5'- GGTCGAAACCGGAGCCG -3'
(R):5'- TTCTGGAAGATGCCCACCG -3'
Posted On 2021-07-15