Mutagenetix > Incidental Mutation

Incidental Mutation 'R2189:Mdga2'

237985

Institutional Source

Beutler Lab

Gene Symbol

Mdga2

Ensembl Gene

ENSMUSG00000034912

Gene Name

MAM domain containing glycosylphosphatidylinositol anchor 2

Synonyms

6720489L24Rik, Mdga2, Adp, 9330209L04Rik, Mamdc1

MMRRC Submission

040191-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2189 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

66512834-67269323 bp(-) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to G at 66519970 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152613 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037181] [ENSMUST00000113942] [ENSMUST00000222167] [ENSMUST00000222623] [ENSMUST00000222987] [ENSMUST00000223141]

AlphaFold

P60755

Predicted Effect

probably null
Transcript: ENSMUST00000037181

SMART Domains

Protein: ENSMUSP00000046761
Gene: ENSMUSG00000034912

Domain	Start	End	E-Value	Type
IGc2	122	186	1.38e-15	SMART
IG	213	307	1.79e0	SMART
IGc2	324	386	1.56e-14	SMART
IGc2	419	493	4.43e-5	SMART
low complexity region	495	507	N/A	INTRINSIC
IGc2	525	591	1.97e-11	SMART
IG_like	621	687	2.5e0	SMART
Blast:FN3	707	795	4e-40	BLAST
MAM	812	990	3.4e-49	SMART
transmembrane domain	999	1021	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000101379

SMART Domains

Protein: ENSMUSP00000098930
Gene: ENSMUSG00000034912

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
SCOP:d1cs6a1	40	72	2e-5	SMART
Blast:IG	47	72	9e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000113942

SMART Domains

Protein: ENSMUSP00000109575
Gene: ENSMUSG00000034912

Domain	Start	End	E-Value	Type
transmembrane domain	60	91	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000178814

SMART Domains

Protein: ENSMUSP00000137608
Gene: ENSMUSG00000034912

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IGc2	53	117	1.38e-15	SMART
IG	144	238	1.79e0	SMART
IGc2	255	317	1.56e-14	SMART
IGc2	350	424	4.43e-5	SMART
low complexity region	426	438	N/A	INTRINSIC
IGc2	456	522	1.97e-11	SMART
IG_like	552	618	2.5e0	SMART
Blast:FN3	638	726	3e-40	BLAST
MAM	736	914	1.38e-49	SMART
transmembrane domain	923	945	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000222167

Predicted Effect

probably null
Transcript: ENSMUST00000222623

Predicted Effect

probably null
Transcript: ENSMUST00000222987

Predicted Effect

probably null
Transcript: ENSMUST00000223141

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.3%
20x: 95.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice that paternally inherit an allele disrupted by transgene insertion exhibit varying degrees of abnormalities in the skull, paw, and tail. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	G	C	7: 78,747,839 (GRCm39)	G870A	probably damaging	Het
Adamtsl2	T	C	2: 26,971,750 (GRCm39)	W12R	probably benign	Het
Bsph1	G	A	7: 13,204,254 (GRCm39)		probably null	Het
Celsr1	G	T	15: 85,863,431 (GRCm39)	H1200Q	possibly damaging	Het
Clptm1	A	T	7: 19,371,070 (GRCm39)	Y355*	probably null	Het
Cry2	T	C	2: 92,242,037 (GRCm39)	E572G	possibly damaging	Het
Dlk1	G	A	12: 109,420,975 (GRCm39)		probably null	Het
Eral1	A	G	11: 77,966,657 (GRCm39)	V201A	probably benign	Het
Esrp1	A	T	4: 11,357,603 (GRCm39)	M503K	probably benign	Het
Fam83e	G	T	7: 45,371,607 (GRCm39)	M1I	probably null	Het
Flt4	G	A	11: 49,526,525 (GRCm39)	A835T	probably benign	Het
H2bc15	A	G	13: 21,938,447 (GRCm39)	D52G	probably damaging	Het
Hdac4	T	C	1: 91,903,244 (GRCm39)	S562G	probably null	Het
Icosl	A	G	10: 77,909,759 (GRCm39)	T235A	possibly damaging	Het
Itga6	A	G	2: 71,655,961 (GRCm39)	D295G	probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lipa	A	T	19: 34,502,199 (GRCm39)	L15Q	probably benign	Het
Mcc	T	C	18: 44,667,297 (GRCm39)	E218G	possibly damaging	Het
Mmadhc	A	C	2: 50,178,958 (GRCm39)	C153W	probably damaging	Het
Myh1	A	G	11: 67,112,430 (GRCm39)	D1799G	probably damaging	Het
Nlrp1b	T	A	11: 71,060,621 (GRCm39)	Q729L	probably damaging	Het
Ofcc1	T	A	13: 40,333,924 (GRCm39)	Q389L	probably benign	Het
Or52b2	A	G	7: 104,986,809 (GRCm39)	V38A	probably benign	Het
Or5m5	A	G	2: 85,814,412 (GRCm39)	D76G	probably damaging	Het
Or5p4	A	T	7: 107,680,243 (GRCm39)	M81L	possibly damaging	Het
Or5p50	T	C	7: 107,421,822 (GRCm39)	I285V	probably benign	Het
Pml	T	C	9: 58,142,157 (GRCm39)	N225S	probably benign	Het
Rnf213	A	G	11: 119,321,187 (GRCm39)	E1215G	probably benign	Het
Scap	T	A	9: 110,206,761 (GRCm39)	I402N	probably damaging	Het
Sgsm2	A	G	11: 74,743,908 (GRCm39)	L886P	probably damaging	Het
Sugct	T	C	13: 17,836,851 (GRCm39)	I104V	probably benign	Het
Tmem200c	A	G	17: 69,147,681 (GRCm39)	Q88R	probably damaging	Het
Tnfrsf1a	T	A	6: 125,334,768 (GRCm39)	L14Q	probably benign	Het
Tnk2	C	T	16: 32,490,239 (GRCm39)	L381F	probably damaging	Het
Ubr2	C	T	17: 47,254,290 (GRCm39)	V1454I	probably benign	Het
V1ra8	A	C	6: 90,179,944 (GRCm39)	D49A	probably damaging	Het
Vmn2r5	A	C	3: 64,417,014 (GRCm39)	M48R	probably benign	Het
Yars1	A	G	4: 129,099,982 (GRCm39)	I227V	probably damaging	Het
Zfp850	C	A	7: 27,688,480 (GRCm39)	R576L	probably benign	Het
Zfpm2	T	A	15: 40,964,579 (GRCm39)	F223I	possibly damaging	Het

Other mutations in Mdga2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01343:Mdga2	APN	12	66,769,883 (GRCm39)	missense	probably damaging	0.97
IGL01632:Mdga2	APN	12	66,676,672 (GRCm39)	splice site	probably benign
IGL01843:Mdga2	APN	12	66,769,905 (GRCm39)	critical splice acceptor site	probably null
IGL02230:Mdga2	APN	12	66,702,197 (GRCm39)	nonsense	probably null
IGL02348:Mdga2	APN	12	66,597,349 (GRCm39)	missense	probably damaging	1.00
IGL02473:Mdga2	APN	12	66,597,385 (GRCm39)	missense	possibly damaging	0.73
IGL02795:Mdga2	APN	12	66,736,206 (GRCm39)	missense	probably benign	0.00
IGL02901:Mdga2	APN	12	66,844,583 (GRCm39)	splice site	probably benign
IGL03373:Mdga2	APN	12	66,763,496 (GRCm39)	missense	probably damaging	0.99
PIT4362001:Mdga2	UTSW	12	66,844,542 (GRCm39)	missense	possibly damaging	0.83
PIT4377001:Mdga2	UTSW	12	66,763,469 (GRCm39)	missense	probably damaging	0.99
R0106:Mdga2	UTSW	12	66,763,480 (GRCm39)	missense	probably damaging	1.00
R0106:Mdga2	UTSW	12	66,763,480 (GRCm39)	missense	probably damaging	1.00
R0110:Mdga2	UTSW	12	66,517,700 (GRCm39)	missense	possibly damaging	0.66
R0218:Mdga2	UTSW	12	66,701,894 (GRCm39)	missense	probably damaging	1.00
R0450:Mdga2	UTSW	12	66,517,700 (GRCm39)	missense	possibly damaging	0.66
R0801:Mdga2	UTSW	12	66,533,507 (GRCm39)	missense	probably damaging	1.00
R0847:Mdga2	UTSW	12	66,769,854 (GRCm39)	missense	probably damaging	1.00
R1056:Mdga2	UTSW	12	66,769,894 (GRCm39)	missense	probably damaging	0.97
R1086:Mdga2	UTSW	12	66,552,876 (GRCm39)	splice site	probably benign
R1335:Mdga2	UTSW	12	66,763,516 (GRCm39)	splice site	probably null
R1382:Mdga2	UTSW	12	66,517,690 (GRCm39)	missense	possibly damaging	0.68
R1490:Mdga2	UTSW	12	66,844,530 (GRCm39)	missense	probably benign	0.01
R1521:Mdga2	UTSW	12	66,615,700 (GRCm39)	missense	probably benign	0.00
R1556:Mdga2	UTSW	12	66,597,367 (GRCm39)	missense	possibly damaging	0.92
R1676:Mdga2	UTSW	12	66,615,547 (GRCm39)	nonsense	probably null
R1676:Mdga2	UTSW	12	66,615,546 (GRCm39)	missense	probably damaging	1.00
R1698:Mdga2	UTSW	12	66,736,109 (GRCm39)	missense	probably damaging	0.97
R1954:Mdga2	UTSW	12	66,533,482 (GRCm39)	splice site	probably benign
R2069:Mdga2	UTSW	12	66,615,691 (GRCm39)	nonsense	probably null
R2077:Mdga2	UTSW	12	66,702,136 (GRCm39)	missense	probably damaging	1.00
R2118:Mdga2	UTSW	12	66,915,526 (GRCm39)	missense	probably damaging	1.00
R2146:Mdga2	UTSW	12	66,915,515 (GRCm39)	missense	probably damaging	1.00
R2158:Mdga2	UTSW	12	66,736,155 (GRCm39)	missense	possibly damaging	0.64
R2293:Mdga2	UTSW	12	66,615,759 (GRCm39)	nonsense	probably null
R2886:Mdga2	UTSW	12	66,553,044 (GRCm39)	splice site	probably benign
R2960:Mdga2	UTSW	12	66,676,752 (GRCm39)	nonsense	probably null
R3937:Mdga2	UTSW	12	67,267,980 (GRCm39)	unclassified	probably benign
R4437:Mdga2	UTSW	12	66,519,972 (GRCm39)	splice site	probably null
R4514:Mdga2	UTSW	12	66,763,496 (GRCm39)	missense	probably damaging	0.99
R4693:Mdga2	UTSW	12	66,844,407 (GRCm39)	missense	possibly damaging	0.81
R4719:Mdga2	UTSW	12	66,517,775 (GRCm39)	unclassified	probably benign
R4744:Mdga2	UTSW	12	66,844,501 (GRCm39)	missense	probably benign	0.01
R4756:Mdga2	UTSW	12	66,844,427 (GRCm39)	missense	probably damaging	1.00
R4781:Mdga2	UTSW	12	66,844,396 (GRCm39)	splice site	probably null
R5022:Mdga2	UTSW	12	66,517,534 (GRCm39)	missense	possibly damaging	0.83
R5108:Mdga2	UTSW	12	66,533,515 (GRCm39)	missense	probably benign	0.43
R5479:Mdga2	UTSW	12	66,701,950 (GRCm39)	missense	probably damaging	1.00
R5710:Mdga2	UTSW	12	66,553,556 (GRCm39)	missense	probably damaging	1.00
R5816:Mdga2	UTSW	12	66,701,956 (GRCm39)	missense	probably damaging	1.00
R5822:Mdga2	UTSW	12	66,702,109 (GRCm39)	missense	probably damaging	1.00
R5996:Mdga2	UTSW	12	66,844,537 (GRCm39)	missense	probably benign	0.00
R6038:Mdga2	UTSW	12	66,676,827 (GRCm39)	missense	probably damaging	1.00
R6038:Mdga2	UTSW	12	66,676,827 (GRCm39)	missense	probably damaging	1.00
R6297:Mdga2	UTSW	12	66,553,027 (GRCm39)	missense	probably damaging	1.00
R6484:Mdga2	UTSW	12	66,676,843 (GRCm39)	missense	possibly damaging	0.90
R6830:Mdga2	UTSW	12	66,769,775 (GRCm39)	missense	probably damaging	1.00
R6912:Mdga2	UTSW	12	66,552,889 (GRCm39)	missense	probably benign	0.01
R6971:Mdga2	UTSW	12	66,597,335 (GRCm39)	missense	probably damaging	1.00
R7053:Mdga2	UTSW	12	66,736,158 (GRCm39)	missense	probably benign	0.41
R7069:Mdga2	UTSW	12	66,533,526 (GRCm39)	missense	probably benign	0.31
R7381:Mdga2	UTSW	12	66,615,670 (GRCm39)	missense	probably benign	0.44
R7474:Mdga2	UTSW	12	66,533,535 (GRCm39)	nonsense	probably null
R7559:Mdga2	UTSW	12	66,520,003 (GRCm39)	missense	probably damaging	1.00
R7581:Mdga2	UTSW	12	66,553,029 (GRCm39)	missense	probably damaging	0.99
R7596:Mdga2	UTSW	12	66,552,897 (GRCm39)	missense	probably damaging	0.99
R7745:Mdga2	UTSW	12	66,736,125 (GRCm39)	missense	possibly damaging	0.63
R7745:Mdga2	UTSW	12	66,736,124 (GRCm39)	missense	probably damaging	0.99
R7852:Mdga2	UTSW	12	66,517,724 (GRCm39)	missense	possibly damaging	0.66
R8144:Mdga2	UTSW	12	66,702,037 (GRCm39)	missense	probably damaging	1.00
R8319:Mdga2	UTSW	12	67,267,803 (GRCm39)	missense	unknown
R8715:Mdga2	UTSW	12	66,915,526 (GRCm39)	missense	probably damaging	1.00
R8977:Mdga2	UTSW	12	66,844,409 (GRCm39)	missense	possibly damaging	0.88
R9138:Mdga2	UTSW	12	66,615,663 (GRCm39)	missense	possibly damaging	0.89
R9177:Mdga2	UTSW	12	66,517,481 (GRCm39)	missense	possibly damaging	0.66
R9223:Mdga2	UTSW	12	66,615,634 (GRCm39)	missense	possibly damaging	0.81
R9248:Mdga2	UTSW	12	66,736,226 (GRCm39)	missense	possibly damaging	0.87
R9264:Mdga2	UTSW	12	66,560,057 (GRCm39)	missense	probably damaging	1.00
R9381:Mdga2	UTSW	12	66,597,304 (GRCm39)	missense	possibly damaging	0.64
R9456:Mdga2	UTSW	12	66,615,532 (GRCm39)	missense	probably benign	0.44
R9633:Mdga2	UTSW	12	66,736,206 (GRCm39)	missense	probably benign	0.00
Z1176:Mdga2	UTSW	12	66,736,217 (GRCm39)	missense	probably damaging	1.00
Z1186:Mdga2	UTSW	12	66,615,727 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- TGAAAATATGGCCACATTGCAC -3'
(R):5'- CTGGGCTTTAACAGATATGCAAAC -3'

Sequencing Primer
(F):5'- GGCCACATTGCACTAGCTTTTTG -3'
(R):5'- GGCTTTAACAGATATGCAAACCATTG -3'

Posted On

2014-10-02