Mutagenetix > Incidental Mutation

Incidental Mutation 'R6092:Mad2l2'

485976

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

044249-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6092 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

148214841-148230156 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 148228067 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 100 (F100L)

Ref Sequence

ENSEMBL: ENSMUSP00000122774 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030858] [ENSMUST00000030860] [ENSMUST00000056965] [ENSMUST00000084129] [ENSMUST00000105706] [ENSMUST00000105707] [ENSMUST00000132698] [ENSMUST00000140049] [ENSMUST00000126615] [ENSMUST00000168503] [ENSMUST00000134261] [ENSMUST00000152098]

AlphaFold

Q9D752

Predicted Effect

probably benign
Transcript: ENSMUST00000030858

SMART Domains

Protein: ENSMUSP00000030858
Gene: ENSMUSG00000055401

Domain	Start	End	E-Value	Type
FBOX	7	48	1e-4	SMART
FBA	66	250	2.51e-113	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030860
AA Change: F100L

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000030860
Gene: ENSMUSG00000029003
AA Change: F100L

Domain	Start	End	E-Value	Type
Pfam:HORMA	12	184	1e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000056965

SMART Domains

Protein: ENSMUSP00000062348
Gene: ENSMUSG00000055401

Domain	Start	End	E-Value	Type
FBOX	7	48	1e-4	SMART
FBA	66	250	2.51e-113	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084129
AA Change: F100L

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000081146
Gene: ENSMUSG00000029003
AA Change: F100L

Domain	Start	End	E-Value	Type
Pfam:HORMA	13	167	4.2e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105706

SMART Domains

Protein: ENSMUSP00000101331
Gene: ENSMUSG00000055401

Domain	Start	End	E-Value	Type
FBOX	7	48	1e-4	SMART
FBA	66	250	2.51e-113	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000105707
AA Change: F100L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101332
Gene: ENSMUSG00000029003
AA Change: F100L

Domain	Start	End	E-Value	Type
Pfam:HORMA	13	171	4.3e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000105708

Predicted Effect

probably damaging
Transcript: ENSMUST00000132698
AA Change: F100L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000122774
Gene: ENSMUSG00000029003
AA Change: F100L

Domain	Start	End	E-Value	Type
Pfam:HORMA	12	168	2e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140049

SMART Domains

Protein: ENSMUSP00000120481
Gene: ENSMUSG00000029003

Domain	Start	End	E-Value	Type
PDB:4FJO\|C	32	107	1e-47	PDB
SCOP:d1go4a_	32	107	1e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148742

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183749

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126261

Predicted Effect

probably benign
Transcript: ENSMUST00000126615

SMART Domains

Protein: ENSMUSP00000120801
Gene: ENSMUSG00000055401

Domain	Start	End	E-Value	Type
FBOX	7	48	1e-4	SMART
FBA	66	237	1.39e-97	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000168503

SMART Domains

Protein: ENSMUSP00000130188
Gene: ENSMUSG00000055401

Domain	Start	End	E-Value	Type
FBOX	7	48	1e-4	SMART
FBA	66	250	2.51e-113	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000134261

SMART Domains

Protein: ENSMUSP00000123132
Gene: ENSMUSG00000055401

Domain	Start	End	E-Value	Type
FBOX	7	48	1e-4	SMART
FBA	66	228	1.89e-85	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000152098

SMART Domains

Protein: ENSMUSP00000121379
Gene: ENSMUSG00000055401

Domain	Start	End	E-Value	Type
FBOX	7	48	1e-4	SMART
FBA	66	250	2.51e-113	SMART

Meta Mutation Damage Score

0.6840

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

98% (61/62)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 137,774,701 (GRCm39)	P1297S	probably benign	Het
4930486L24Rik	C	T	13: 61,001,461 (GRCm39)	V89M	probably benign	Het
Abhd16a	T	C	17: 35,317,786 (GRCm39)		probably null	Het
Abtb1	A	C	6: 88,815,433 (GRCm39)	C264G	probably benign	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Arid1a	C	T	4: 133,421,163 (GRCm39)	G881R	unknown	Het
Asb8	A	G	15: 98,034,123 (GRCm39)	V144A	possibly damaging	Het
Atm	A	C	9: 53,435,714 (GRCm39)	C199G	probably damaging	Het
Atxn1	C	A	13: 45,720,288 (GRCm39)	V536L	probably benign	Het
Baz1a	C	T	12: 54,955,868 (GRCm39)	V1074M	possibly damaging	Het
BC034090	T	A	1: 155,100,659 (GRCm39)	D535V	probably damaging	Het
Casp8ap2	C	A	4: 32,639,380 (GRCm39)	H145N	probably damaging	Het
Ccdc24	T	A	4: 117,729,645 (GRCm39)	K25*	probably null	Het
Ccdc91	A	G	6: 147,437,114 (GRCm39)	N100S	possibly damaging	Het
Cdh20	A	T	1: 110,026,036 (GRCm39)	Y424F	probably benign	Het
Clasp1	T	C	1: 118,438,028 (GRCm39)	S612P	probably damaging	Het
Cxcl14	T	C	13: 56,443,646 (GRCm39)	M55V	possibly damaging	Het
Dnah11	T	C	12: 117,892,191 (GRCm39)	T3661A	probably benign	Het
Dnah14	T	A	1: 181,449,398 (GRCm39)	D574E	probably benign	Het
Dnah6	C	T	6: 73,091,680 (GRCm39)	V2204M	possibly damaging	Het
Ercc4	A	T	16: 12,943,125 (GRCm39)	H178L	probably benign	Het
Far2	T	C	6: 148,076,581 (GRCm39)	F475L	probably benign	Het
Ggt7	A	G	2: 155,359,959 (GRCm39)		probably null	Het
Gm4131	T	A	14: 62,718,364 (GRCm39)	T81S	possibly damaging	Het
Gprc6a	A	G	10: 51,491,173 (GRCm39)	S788P	probably damaging	Het
Hmgxb3	C	A	18: 61,270,672 (GRCm39)	G884V	possibly damaging	Het
Homer1	T	A	13: 93,502,945 (GRCm39)		probably benign	Het
Iars1	T	C	13: 49,861,897 (GRCm39)	S483P	probably damaging	Het
Kansl1l	C	G	1: 66,812,643 (GRCm39)	E457Q	probably damaging	Het
Krtap4-9	G	A	11: 99,676,481 (GRCm39)		probably benign	Het
Lepr	C	A	4: 101,649,220 (GRCm39)	P874T	probably damaging	Het
Mavs	A	T	2: 131,087,518 (GRCm39)	R339*	probably null	Het
Mettl1	G	A	10: 126,877,843 (GRCm39)		probably benign	Het
Mfsd8	A	G	3: 40,774,031 (GRCm39)	V493A	possibly damaging	Het
Mtmr9	C	T	14: 63,779,901 (GRCm39)	V63M	possibly damaging	Het
Mto1	T	C	9: 78,368,131 (GRCm39)	I425T	possibly damaging	Het
Or2av9	A	T	11: 58,380,900 (GRCm39)	M227K	probably damaging	Het
Or5g29	A	G	2: 85,420,950 (GRCm39)	Y22C	probably benign	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Pclo	C	T	5: 14,727,937 (GRCm39)		probably benign	Het
Phf2	T	C	13: 48,969,533 (GRCm39)	D608G	unknown	Het
Plch2	T	C	4: 155,068,829 (GRCm39)	T1266A	probably benign	Het
Prdm12	A	G	2: 31,533,889 (GRCm39)	N169D	probably damaging	Het
Rimbp3	A	G	16: 17,030,134 (GRCm39)	Y1186C	probably damaging	Het
Serpinb3d	T	C	1: 107,006,989 (GRCm39)	M240V	probably damaging	Het
Slc25a38	C	T	9: 119,945,658 (GRCm39)	R74C	probably damaging	Het
Slc25a39	A	T	11: 102,295,719 (GRCm39)	Y109*	probably null	Het
Slc26a8	T	C	17: 28,867,129 (GRCm39)	N564S	probably damaging	Het
Spag4	G	A	2: 155,907,696 (GRCm39)		probably benign	Het
Stx1b	A	G	7: 127,407,035 (GRCm39)	M74T	possibly damaging	Het
Tbc1d1	A	G	5: 64,507,242 (GRCm39)	D1153G	probably benign	Het
Tert	T	C	13: 73,776,700 (GRCm39)	F484L	probably benign	Het
Tet1	A	G	10: 62,649,494 (GRCm39)	V72A	probably benign	Het
Tnfrsf13c	T	C	15: 82,107,355 (GRCm39)	T147A	probably damaging	Het
Trpa1	A	T	1: 14,959,710 (GRCm39)	Y659N	probably damaging	Het
Trpm2	A	G	10: 77,761,516 (GRCm39)	F1045L	probably benign	Het
Ttc13	T	C	8: 125,405,772 (GRCm39)	H529R	probably benign	Het
Ttn	T	C	2: 76,545,614 (GRCm39)	T32570A	probably damaging	Het
Uba7	A	G	9: 107,860,359 (GRCm39)	T892A	possibly damaging	Het
Uty	A	T	Y: 1,174,836 (GRCm39)	M195K	probably benign	Het
Zfp109	A	G	7: 23,928,978 (GRCm39)	S152P	possibly damaging	Het
Zfp532	T	C	18: 65,777,281 (GRCm39)	V846A	probably damaging	Het
Zfp658	A	T	7: 43,223,951 (GRCm39)	H742L	possibly damaging	Het
Zfp831	C	A	2: 174,547,299 (GRCm39)	P1494Q	probably damaging	Het

Other mutations in Mad2l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R6927:Mad2l2	UTSW	4	148,225,411 (GRCm39)	missense	possibly damaging	0.77
R8825:Mad2l2	UTSW	4	148,225,277 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCAATTGCTGGGCTCCTAGG -3'
(R):5'- GGACTAACATTCACCACTTCCTG -3'

Sequencing Primer
(F):5'- TAGGTAGCCTCAGCCAGTG -3'
(R):5'- GTCCGACTCACAGAGTTCTG -3'

Posted On

2017-08-16