Mutagenetix > Incidental Mutation

Incidental Mutation 'R9474:Magi2'

715622

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 #

R9474 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

19227036-20704792 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20195021 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 17 (D17G)

Ref Sequence

ENSEMBL: ENSMUSP00000099094 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088516] [ENSMUST00000101558] [ENSMUST00000115267] [ENSMUST00000197354] [ENSMUST00000197443] [ENSMUST00000200443]

AlphaFold

Q9WVQ1

Predicted Effect

probably benign
Transcript: ENSMUST00000088516
AA Change: D180G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000085872
Gene: ENSMUSG00000040003
AA Change: D180G

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: D17G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000099094
Gene: ENSMUSG00000040003
AA Change: D17G

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: D17G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110922
Gene: ENSMUSG00000040003
AA Change: D17G

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: D180G

PolyPhen 2 Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000142576
Gene: ENSMUSG00000040003
AA Change: D180G

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: D180G

PolyPhen 2 Score 0.257 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000142764
Gene: ENSMUSG00000040003
AA Change: D180G

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 benign
Transcript: ENSMUST00000200443
AA Change: D17G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

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

Validation Efficiency

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	C	A	10: 79,067,731	K250N	probably damaging	Het
9530077C05Rik	T	C	9: 22,431,719	M303T	probably damaging	Het
Adam5	A	T	8: 24,747,524	D623E	possibly damaging	Het
Akt3	T	C	1: 177,025,386	Y473C	probably damaging	Het
Ankib1	A	G	5: 3,755,617	Y217H	probably damaging	Het
Clca4b	T	A	3: 144,911,166	T908S	probably benign	Het
Clec7a	G	A	6: 129,463,163	Q160*	probably null	Het
Cntnap4	T	A	8: 112,733,471	I152N	probably damaging	Het
Ctdspl	C	T	9: 119,037,377	A179V	probably damaging	Het
Ddx43	T	C	9: 78,406,386	S200P	probably damaging	Het
Dip2c	A	G	13: 9,494,927	D84G	unknown	Het
Dmbt1	G	A	7: 131,074,257	R625H	unknown	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 73,640,611		probably benign	Het
E2f7	C	T	10: 110,767,189	T355I	probably damaging	Het
E2f7	C	A	10: 110,779,057	L541M	probably damaging	Het
Elovl5	T	A	9: 77,982,725	S273T	possibly damaging	Het
Emc1	T	A	4: 139,366,394	L605Q	probably damaging	Het
Fras1	T	A	5: 96,739,265	D2635E	probably benign	Het
Gabrb1	G	A	5: 72,108,347	G195E	probably damaging	Het
Galm	A	G	17: 80,150,132	D199G	possibly damaging	Het
Galntl6	T	G	8: 57,777,325	S20R	probably damaging	Het
Gm21671	A	T	5: 25,953,138	I72N	probably damaging	Het
Grb14	T	G	2: 64,938,400	Y189S	probably damaging	Het
Hk2	T	A	6: 82,728,914	I803F	probably damaging	Het
Hmcn1	G	A	1: 150,630,720	R3779W	probably damaging	Het
Hmgcr	A	C	13: 96,659,895	M260R	probably damaging	Het
Hsbp1l1	T	A	18: 80,233,424	K68N	possibly damaging	Het
Inhba	A	C	13: 16,017,678	E128A	probably benign	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Klhl3	G	A	13: 58,019,459	P364S	probably damaging	Het
Lhpp	T	C	7: 132,641,583	L176P	probably damaging	Het
Lrp1b	C	A	2: 40,601,587	A223S	probably damaging	Het
Lrp3	A	G	7: 35,204,064	F286L	probably damaging	Het
Lrrc7	T	C	3: 158,135,391	T1337A	probably benign	Het
Map3k21	T	C	8: 125,924,164	S302P	probably damaging	Het
Mbtd1	A	G	11: 93,925,685	D386G	probably benign	Het
Mfsd2b	A	T	12: 4,866,820	D306E	possibly damaging	Het
Muc20	T	C	16: 32,794,083	E308G	probably damaging	Het
Myh13	G	A	11: 67,364,886	S34N		Het
Nebl	C	A	2: 17,369,610	G894*	probably null	Het
Nelfa	A	G	5: 33,898,751	Y523H	probably damaging	Het
Ninj1	A	G	13: 49,187,600	D13G	probably benign	Het
Ninl	A	T	2: 150,940,806	S170T	probably benign	Het
Nlrp4c	G	A	7: 6,065,627	V176M	possibly damaging	Het
Nobox	G	A	6: 43,307,181	R144C	probably damaging	Het
Oas1a	G	A	5: 120,899,254	L237F	probably damaging	Het
Olfr1099	A	G	2: 86,959,413	M15T	probably benign	Het
Olfr1153	T	C	2: 87,896,349	M50T	probably benign	Het
Olfr1254	A	C	2: 89,789,162	Y63*	probably null	Het
Olfr1348	A	G	7: 6,502,151	L25P	probably benign	Het
Olfr1356	T	C	10: 78,847,057	N286S	probably damaging	Het
Olfr625-ps1	A	T	7: 103,683,270	Y184F	probably damaging	Het
Orai1	A	G	5: 123,029,238	N158S	probably damaging	Het
Pa2g4	C	A	10: 128,563,098	V121L	probably benign	Het
Pclo	T	C	5: 14,521,236	S212P	possibly damaging	Het
Plce1	G	A	19: 38,777,893	E2121K	possibly damaging	Het
Plg	A	G	17: 12,403,137	Y448C	probably damaging	Het
Plppr4	A	T	3: 117,323,217	N330K	probably damaging	Het
Pou2f2	A	G	7: 25,094,822	L373S	probably benign	Het
Rnpep	A	G	1: 135,283,603	F136L	probably benign	Het
Rp1	A	G	1: 4,092,615		probably null	Het
Shank1	G	A	7: 44,312,918	S71N	unknown	Het
Slc5a4a	GCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGC	GCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGC	10: 76,150,404		probably benign	Het
Slc5a5	T	C	8: 70,884,952	D574G	probably benign	Het
Slc7a15	T	A	12: 8,538,794	N251I	probably damaging	Het
Susd4	T	C	1: 182,892,100	S427P	probably benign	Het
Tarbp1	T	A	8: 126,429,040	T1320S	probably benign	Het
Tbpl2	C	T	2: 24,094,638	V166I	probably benign	Het
Thbs1	T	C	2: 118,120,037		probably null	Het
Tnfsf13b	A	G	8: 10,031,648	Y270C	probably damaging	Het
Vps11	G	T	9: 44,348,993	C857*	probably null	Het
Vsig10	G	A	5: 117,325,039	R110H	probably benign	Het
Wee2	T	A	6: 40,455,110	Y204*	probably null	Het
Zfpm2	T	A	15: 41,103,471	S1117R	probably damaging	Het
Zscan5b	A	G	7: 6,231,473	N166S	probably benign	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
R7808:Magi2	UTSW	5	20465840	missense	probably benign	0.03
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
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'- ATCAACATGGGCCATTATCTTATGC -3'
(R):5'- ACGCCGTTTCCATTGACTAC -3'

Sequencing Primer
(F):5'- GGGCCATTATCTTATGCATTAAAAC -3'
(R):5'- CGTTTCCATTGACTACAGGCC -3'

Posted On

2022-06-15