Mutagenetix > Incidental Mutation

Incidental Mutation 'R7808:Magi2'

600922

Institutional Source

Beutler Lab

Gene Symbol

Magi2

Ensembl Gene

ENSMUSG00000040003

Gene Name

membrane associated guanylate kinase, WW and PDZ domain containing 2

Synonyms

Magi-2, S-SCAM, Acvrinp1

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7808 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19227036-20704792 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20465840 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 394 (V394A)

Ref Sequence

ENSEMBL: ENSMUSP00000099094 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088516] [ENSMUST00000101558] [ENSMUST00000115267] [ENSMUST00000197354] [ENSMUST00000197443] [ENSMUST00000197553] [ENSMUST00000208219]

AlphaFold

Q9WVQ1

Predicted Effect

probably benign
Transcript: ENSMUST00000088516
AA Change: V557A

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000085872
Gene: ENSMUSG00000040003
AA Change: V557A

Domain	Start	End	E-Value	Type
PDZ	26	101	5.26e-9	SMART
GuKc	107	290	2.76e-45	SMART
WW	302	334	7.43e-12	SMART
WW	348	380	2.4e-6	SMART
PDZ	433	509	3.51e-19	SMART
PDZ	612	682	2.3e-14	SMART
PDZ	785	861	4.04e-19	SMART
low complexity region	893	907	N/A	INTRINSIC
PDZ	928	1009	5.05e-20	SMART
low complexity region	1052	1063	N/A	INTRINSIC
PDZ	1147	1221	3.88e-21	SMART
low complexity region	1257	1270	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000101558
AA Change: V394A

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000099094
Gene: ENSMUSG00000040003
AA Change: V394A

Domain	Start	End	E-Value	Type
low complexity region	66	74	N/A	INTRINSIC
WW	139	171	7.43e-12	SMART
WW	185	217	2.4e-6	SMART
PDZ	270	346	3.51e-19	SMART
PDZ	449	519	2.3e-14	SMART
PDZ	608	684	4.04e-19	SMART
low complexity region	716	730	N/A	INTRINSIC
PDZ	751	832	5.05e-20	SMART
low complexity region	875	886	N/A	INTRINSIC
PDZ	970	1044	3.88e-21	SMART
low complexity region	1080	1093	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115267
AA Change: V394A

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000110922
Gene: ENSMUSG00000040003
AA Change: V394A

Domain	Start	End	E-Value	Type
low complexity region	66	74	N/A	INTRINSIC
WW	139	171	7.43e-12	SMART
WW	185	217	2.4e-6	SMART
PDZ	270	346	3.51e-19	SMART
PDZ	449	519	2.3e-14	SMART
PDZ	622	698	4.04e-19	SMART
low complexity region	730	744	N/A	INTRINSIC
PDZ	765	846	5.05e-20	SMART
low complexity region	889	900	N/A	INTRINSIC
PDZ	984	1058	3.88e-21	SMART
low complexity region	1094	1107	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000197354
AA Change: V557A

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142576
Gene: ENSMUSG00000040003
AA Change: V557A

Domain	Start	End	E-Value	Type
PDZ	26	101	2.5e-11	SMART
GuKc	107	290	1.4e-47	SMART
WW	302	334	4.3e-14	SMART
WW	348	380	1.4e-8	SMART
PDZ	433	509	1.7e-21	SMART
PDZ	612	682	1.1e-16	SMART
PDZ	785	861	2e-21	SMART
low complexity region	893	907	N/A	INTRINSIC
PDZ	928	1009	2.4e-22	SMART
low complexity region	1052	1063	N/A	INTRINSIC
PDZ	1147	1221	1.9e-23	SMART
low complexity region	1255	1269	N/A	INTRINSIC
low complexity region	1304	1319	N/A	INTRINSIC
low complexity region	1344	1363	N/A	INTRINSIC
low complexity region	1368	1384	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000197443
AA Change: V557A

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000142764
Gene: ENSMUSG00000040003
AA Change: V557A

Domain	Start	End	E-Value	Type
PDZ	26	101	2.5e-11	SMART
GuKc	107	290	1.4e-47	SMART
WW	302	334	4.3e-14	SMART
WW	348	380	1.4e-8	SMART
PDZ	433	509	1.7e-21	SMART
PDZ	612	682	1.1e-16	SMART
PDZ	771	847	2e-21	SMART
low complexity region	879	893	N/A	INTRINSIC
PDZ	914	995	2.4e-22	SMART
low complexity region	1038	1049	N/A	INTRINSIC
PDZ	1133	1207	1.9e-23	SMART
low complexity region	1241	1255	N/A	INTRINSIC
low complexity region	1290	1305	N/A	INTRINSIC
low complexity region	1330	1349	N/A	INTRINSIC
low complexity region	1354	1370	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000197553
AA Change: V167A

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208219
AA Change: V167A

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)

Meta Mutation Damage Score

0.0827

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

99% (86/87)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene interacts with atrophin-1. Atrophin-1 contains a polyglutamine repeat, expansion of which is responsible for dentatorubral and pallidoluysian atrophy. This encoded protein is characterized by two WW domains, a guanylate kinase-like domain, and multiple PDZ domains. It has structural similarity to the membrane-associated guanylate kinase homologue (MAGUK) family. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show neonatal death and hippocampal neurons with altered dendritic spine morphology. Homozygotes for a different null allele die neonatally due to anuria and podocyte anomalies. Mice lacking all three isoforms develop proteinuria, podocytopathy and die of renal failure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110051M20Rik	T	C	2: 91,444,594		probably benign	Het
1700113H08Rik	T	C	10: 87,121,435	V11A	probably benign	Het
Abca12	A	T	1: 71,274,634		probably null	Het
Abcc12	T	A	8: 86,507,939	M1232L	probably benign	Het
Adamts1	T	C	16: 85,800,229	Y314C	probably damaging	Het
Adgb	A	G	10: 10,378,659		probably null	Het
Ankrd12	T	A	17: 65,985,653	K928N	possibly damaging	Het
Ano5	A	T	7: 51,587,795	K789I	possibly damaging	Het
Cacna1d	G	T	14: 30,111,069	N938K	probably damaging	Het
Camk1g	T	C	1: 193,350,285	R273G	possibly damaging	Het
Caprin2	C	A	6: 148,843,030	V966F	probably damaging	Het
Card6	T	C	15: 5,099,472	H814R	probably benign	Het
Ccdc84	T	C	9: 44,412,918	Q228R	probably null	Het
Cflar	A	G	1: 58,711,581		probably benign	Het
Cftr	T	A	6: 18,204,205	N66K	probably benign	Het
Clasrp	C	T	7: 19,588,746		probably null	Het
Clec4a4	T	C	6: 122,990,380	I5T	probably damaging	Het
Cmtr2	T	C	8: 110,221,619	I187T	possibly damaging	Het
Cnga1	A	T	5: 72,604,273	F633I	possibly damaging	Het
Col16a1	C	T	4: 130,073,264	P909S	unknown	Het
Csf1	C	A	3: 107,760,045	A7S	possibly damaging	Het
Dhx30	A	T	9: 110,086,202	V833D	probably benign	Het
Dlg2	T	G	7: 92,431,055	I712M	probably benign	Het
Dmxl1	T	A	18: 49,878,315	F1180I	probably benign	Het
Dnah9	T	A	11: 66,005,805	K2398*	probably null	Het
Dus1l	C	T	11: 120,789,436	G471D	possibly damaging	Het
Dync1h1	A	T	12: 110,655,459	N3412I	possibly damaging	Het
Dync1i2	T	A	2: 71,250,834		probably null	Het
Dysf	T	C	6: 84,070,929	S333P	possibly damaging	Het
Eed	A	T	7: 89,956,333	N349K	probably benign	Het
Eipr1	A	T	12: 28,766,770		probably null	Het
Fam160a2	G	A	7: 105,384,525	R509C	probably damaging	Het
Fbxw16	A	C	9: 109,448,154	V40G	probably damaging	Het
Fgfr4	A	C	13: 55,161,156	R363S	possibly damaging	Het
Fgl2	A	T	5: 21,373,231	N172I	possibly damaging	Het
Gabbr2	T	A	4: 46,875,744	H126L	possibly damaging	Het
Gcnt2	A	T	13: 40,860,862	N170Y	possibly damaging	Het
Gpt	A	G	15: 76,698,893		probably null	Het
Igsf10	A	G	3: 59,328,068	I1564T	probably benign	Het
Il22ra1	C	A	4: 135,750,796	Q393K	possibly damaging	Het
Inpp5d	A	T	1: 87,683,845	K340*	probably null	Het
Jcad	A	G	18: 4,673,113	K292E	probably damaging	Het
Krt5	T	A	15: 101,709,018	T427S	probably benign	Het
Krt76	T	C	15: 101,890,494	D252G	probably damaging	Het
Krtap26-1	A	G	16: 88,647,310	V141A	not run	Het
Lce6a	A	T	3: 92,620,335	V55D	probably benign	Het
Lpxn	C	T	19: 12,824,821	S170F	possibly damaging	Het
Mbnl1	G	A	3: 60,614,821		probably null	Het
Med16	T	A	10: 79,898,418	K554M	probably damaging	Het
Mettl14	T	C	3: 123,372,585	D276G	possibly damaging	Het
Mphosph9	T	C	5: 124,260,946	D1002G	probably damaging	Het
Mroh9	T	C	1: 163,039,109	E686G	probably damaging	Het
Nav1	T	C	1: 135,452,248	Y1512C	unknown	Het
Neb	T	C	2: 52,192,023	Y5712C	probably damaging	Het
Nek7	T	A	1: 138,561,771		probably benign	Het
Nptx1	T	A	11: 119,544,636	I285F	probably damaging	Het
Oas1d	G	T	5: 120,914,971	E30*	probably null	Het
Olfr404-ps1	A	T	11: 74,239,899	I112F	probably damaging	Het
Olfr429	C	A	1: 174,089,851	Y270*	probably null	Het
Olfr577	A	G	7: 102,973,110	V294A	possibly damaging	Het
Parp4	T	G	14: 56,635,748	S1150A	possibly damaging	Het
Pinx1	A	T	14: 63,919,292	K223*	probably null	Het
Plekha5	T	C	6: 140,583,914	L1034S	probably damaging	Het
Ppp4r3a	A	G	12: 101,053,496	V400A	possibly damaging	Het
Prtg	A	T	9: 72,842,697	I128F	possibly damaging	Het
Rars	T	C	11: 35,828,707	E96G	probably benign	Het
Rhpn1	T	A	15: 75,713,450	S551T	probably benign	Het
Selenow	C	T	7: 15,922,251		probably null	Het
Serpina9	A	T	12: 104,001,225		probably null	Het
Shank3	A	T	15: 89,548,880	D1276V	probably damaging	Het
Slc17a2	A	C	13: 23,819,334	H285P	probably damaging	Het
Slc27a6	A	G	18: 58,609,195	T494A	probably damaging	Het
Slc6a21	A	C	7: 45,282,936	T54P		Het
Syne2	A	G	12: 75,983,727		probably null	Het
Tal1	T	C	4: 115,068,292	V186A	probably benign	Het
Tarsl2	A	G	7: 65,652,261	K178E	probably benign	Het
Tex10	T	A	4: 48,459,984	I456L	probably benign	Het
Tfcp2	A	G	15: 100,522,429	F175S	probably damaging	Het
Timp2	C	T	11: 118,303,800	A188T	probably damaging	Het
Tmc5	T	A	7: 118,669,217	I836N	probably damaging	Het
Tmem100	T	A	11: 90,035,476	M43K	probably benign	Het
Ulk2	A	G	11: 61,854,552	Y9H	probably damaging	Het
Usp7	T	C	16: 8,705,163	K311E	probably damaging	Het
Vmn1r238	G	A	18: 3,123,033	T127I	probably benign	Het
Vmn2r28	T	C	7: 5,493,679	Y58C	probably damaging	Het
Wdr55	G	A	18: 36,760,416	G44S	probably benign	Het
Zfp677	C	A	17: 21,397,385	H235N	probably damaging	Het
Zfp869	T	A	8: 69,706,986	R312S	probably damaging	Het

Other mutations in Magi2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00908:Magi2	APN	5	20391301	missense	probably benign	0.05
IGL02120:Magi2	APN	5	20228453	critical splice donor site	probably null
IGL02341:Magi2	APN	5	20466203	missense	probably damaging	1.00
IGL02411:Magi2	APN	5	19678709	missense	probably damaging	1.00
IGL02657:Magi2	APN	5	19227583	missense	probably damaging	0.99
IGL02976:Magi2	APN	5	20534475	missense	probably damaging	1.00
IGL03105:Magi2	APN	5	20543618	missense	probably damaging	0.97
IGL03246:Magi2	APN	5	20358950	missense	probably damaging	1.00
IGL03329:Magi2	APN	5	20466128	missense	possibly damaging	0.95
LCD18:Magi2	UTSW	5	19954511	intron	probably benign
PIT4519001:Magi2	UTSW	5	20661346	missense	probably damaging	1.00
R0009:Magi2	UTSW	5	20611055	missense	probably benign	0.15
R0009:Magi2	UTSW	5	20611055	missense	probably benign	0.15
R0352:Magi2	UTSW	5	20065666	missense	probably damaging	1.00
R0362:Magi2	UTSW	5	19227575	missense	probably damaging	1.00
R0496:Magi2	UTSW	5	20661359	splice site	probably benign
R1103:Magi2	UTSW	5	20611103	missense	probably damaging	1.00
R1435:Magi2	UTSW	5	20358945	missense	probably damaging	1.00
R1583:Magi2	UTSW	5	19227332	missense	probably benign	0.30
R1616:Magi2	UTSW	5	20609326	missense	probably damaging	1.00
R1643:Magi2	UTSW	5	20705506	unclassified	probably benign
R1707:Magi2	UTSW	5	20215493	missense	probably damaging	1.00
R1833:Magi2	UTSW	5	19227457	missense	probably damaging	1.00
R1837:Magi2	UTSW	5	20465827	missense	probably damaging	1.00
R1838:Magi2	UTSW	5	20465827	missense	probably damaging	1.00
R1839:Magi2	UTSW	5	20465827	missense	probably damaging	1.00
R1847:Magi2	UTSW	5	20602460	missense	probably damaging	0.99
R2223:Magi2	UTSW	5	20465672	missense	probably damaging	1.00
R2496:Magi2	UTSW	5	19678752	missense	probably benign	0.42
R2504:Magi2	UTSW	5	20358936	missense	probably damaging	1.00
R2848:Magi2	UTSW	5	20602461	frame shift	probably null
R2879:Magi2	UTSW	5	20602461	frame shift	probably null
R2935:Magi2	UTSW	5	20602461	frame shift	probably null
R2936:Magi2	UTSW	5	20602461	frame shift	probably null
R3694:Magi2	UTSW	5	20602461	frame shift	probably null
R3783:Magi2	UTSW	5	20465909	missense	probably damaging	0.97
R3786:Magi2	UTSW	5	20465909	missense	probably damaging	0.97
R3787:Magi2	UTSW	5	20465909	missense	probably damaging	0.97
R3837:Magi2	UTSW	5	20215468	missense	probably benign	0.28
R4151:Magi2	UTSW	5	19227292	missense	probably damaging	0.97
R4721:Magi2	UTSW	5	20534469	missense	probably damaging	1.00
R5005:Magi2	UTSW	5	20534446	missense	probably damaging	0.98
R5012:Magi2	UTSW	5	20465620	missense	probably damaging	0.99
R5193:Magi2	UTSW	5	20358972	critical splice donor site	probably null
R5298:Magi2	UTSW	5	20569162	missense	probably damaging	1.00
R5372:Magi2	UTSW	5	20702110	missense	possibly damaging	0.82
R5580:Magi2	UTSW	5	20215424	missense	probably benign	0.03
R5806:Magi2	UTSW	5	20651204	missense	probably benign	0.01
R5924:Magi2	UTSW	5	20611069	missense	probably benign	0.00
R5992:Magi2	UTSW	5	19227291	start codon destroyed	probably null	0.42
R6014:Magi2	UTSW	5	20611093	missense	probably damaging	1.00
R6073:Magi2	UTSW	5	20569288	missense	probably damaging	1.00
R6500:Magi2	UTSW	5	20602347	missense	possibly damaging	0.94
R6664:Magi2	UTSW	5	20702397	missense	probably benign	0.00
R7229:Magi2	UTSW	5	20465588	missense	probably damaging	1.00
R7344:Magi2	UTSW	5	20550240	missense	probably benign	0.19
R7448:Magi2	UTSW	5	20358956	missense	probably damaging	1.00
R7605:Magi2	UTSW	5	20228385	missense	probably damaging	1.00
R7712:Magi2	UTSW	5	20550282	missense	possibly damaging	0.78
R7955:Magi2	UTSW	5	20389072	missense	probably damaging	1.00
R8134:Magi2	UTSW	5	20391367	missense	probably damaging	1.00
R8134:Magi2	UTSW	5	20391394	missense	probably benign	0.03
R8253:Magi2	UTSW	5	20609307	missense	probably benign	0.44
R8481:Magi2	UTSW	5	20389154	missense	possibly damaging	0.91
R8553:Magi2	UTSW	5	20651200	missense	probably benign	0.00
R8751:Magi2	UTSW	5	20534464	missense	probably benign
R8766:Magi2	UTSW	5	20195125	missense	probably benign	0.33
R8851:Magi2	UTSW	5	20065620	missense	probably damaging	1.00
R8876:Magi2	UTSW	5	20651192	nonsense	probably null
R9120:Magi2	UTSW	5	20528307	missense	possibly damaging	0.81
R9335:Magi2	UTSW	5	20661265	missense
R9367:Magi2	UTSW	5	20561310	missense	probably damaging	0.97
R9454:Magi2	UTSW	5	20466178	missense	probably damaging	0.97
R9474:Magi2	UTSW	5	20195021	missense	probably benign	0.00
R9577:Magi2	UTSW	5	20609284	missense	probably damaging	1.00
R9673:Magi2	UTSW	5	20465584	missense	possibly damaging	0.86
R9696:Magi2	UTSW	5	20465866	missense	probably benign	0.35
X0065:Magi2	UTSW	5	20569178	missense	possibly damaging	0.94
Z1176:Magi2	UTSW	5	20702109	missense	probably benign	0.32
Z1177:Magi2	UTSW	5	20702412	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACACTCATGCAGATGTTGTCAAAC -3'
(R):5'- GTAAAGCCAAATCCCTGGGC -3'

Sequencing Primer
(F):5'- TCCTATTGGTCAGAGTGTCAAC -3'
(R):5'- GGCACCTTTCACAATGGTTAAGGTC -3'

Posted On

2019-11-26