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

Adp, 6720489L24Rik, Mamdc1, 9330209L04Rik, Mdga2

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

66466060-67222549 bp(-) (GRCm38)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to G at 66473196 bp (GRCm38)

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: 79,098,091 (GRCm38)	G870A	probably damaging	Het
Adamtsl2	T	C	2: 27,081,738 (GRCm38)	W12R	probably benign	Het
Bsph1	G	A	7: 13,470,329 (GRCm38)		probably null	Het
Celsr1	G	T	15: 85,979,230 (GRCm38)	H1200Q	possibly damaging	Het
Clptm1	A	T	7: 19,637,145 (GRCm38)	Y355*	probably null	Het
Cry2	T	C	2: 92,411,692 (GRCm38)	E572G	possibly damaging	Het
Dlk1	G	A	12: 109,455,049 (GRCm38)		probably null	Het
Eral1	A	G	11: 78,075,831 (GRCm38)	V201A	probably benign	Het
Esrp1	A	T	4: 11,357,603 (GRCm38)	M503K	probably benign	Het
Fam83e	G	T	7: 45,722,183 (GRCm38)	M1I	probably null	Het
Flt4	G	A	11: 49,635,698 (GRCm38)	A835T	probably benign	Het
Hdac4	T	C	1: 91,975,522 (GRCm38)	S562G	probably null	Het
Hist1h2bn	A	G	13: 21,754,277 (GRCm38)	D52G	probably damaging	Het
Icosl	A	G	10: 78,073,925 (GRCm38)	T235A	possibly damaging	Het
Itga6	A	G	2: 71,825,617 (GRCm38)	D295G	probably benign	Het
Klk14	G	A	7: 43,692,077 (GRCm38)	C51Y	probably damaging	Het
Lipa	A	T	19: 34,524,799 (GRCm38)	L15Q	probably benign	Het
Mcc	T	C	18: 44,534,230 (GRCm38)	E218G	possibly damaging	Het
Mmadhc	A	C	2: 50,288,946 (GRCm38)	C153W	probably damaging	Het
Myh1	A	G	11: 67,221,604 (GRCm38)	D1799G	probably damaging	Het
Nlrp1b	T	A	11: 71,169,795 (GRCm38)	Q729L	probably damaging	Het
Ofcc1	T	A	13: 40,180,448 (GRCm38)	Q389L	probably benign	Het
Olfr1030	A	G	2: 85,984,068 (GRCm38)	D76G	probably damaging	Het
Olfr469	T	C	7: 107,822,615 (GRCm38)	I285V	probably benign	Het
Olfr481	A	T	7: 108,081,036 (GRCm38)	M81L	possibly damaging	Het
Olfr691	A	G	7: 105,337,602 (GRCm38)	V38A	probably benign	Het
Pml	T	C	9: 58,234,874 (GRCm38)	N225S	probably benign	Het
Rnf213	A	G	11: 119,430,361 (GRCm38)	E1215G	probably benign	Het
Scap	T	A	9: 110,377,693 (GRCm38)	I402N	probably damaging	Het
Sgsm2	A	G	11: 74,853,082 (GRCm38)	L886P	probably damaging	Het
Sugct	T	C	13: 17,662,266 (GRCm38)	I104V	probably benign	Het
Tmem200c	A	G	17: 68,840,686 (GRCm38)	Q88R	probably damaging	Het
Tnfrsf1a	T	A	6: 125,357,805 (GRCm38)	L14Q	probably benign	Het
Tnk2	C	T	16: 32,671,421 (GRCm38)	L381F	probably damaging	Het
Ubr2	C	T	17: 46,943,364 (GRCm38)	V1454I	probably benign	Het
V1ra8	A	C	6: 90,202,962 (GRCm38)	D49A	probably damaging	Het
Vmn2r5	A	C	3: 64,509,593 (GRCm38)	M48R	probably benign	Het
Yars	A	G	4: 129,206,189 (GRCm38)	I227V	probably damaging	Het
Zfp850	C	A	7: 27,989,055 (GRCm38)	R576L	probably benign	Het
Zfpm2	T	A	15: 41,101,183 (GRCm38)	F223I	possibly damaging	Het

Other mutations in Mdga2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01343:Mdga2	APN	12	66,723,109 (GRCm38)	missense	probably damaging	0.97
IGL01632:Mdga2	APN	12	66,629,898 (GRCm38)	splice site	probably benign
IGL01843:Mdga2	APN	12	66,723,131 (GRCm38)	critical splice acceptor site	probably null
IGL02230:Mdga2	APN	12	66,655,423 (GRCm38)	nonsense	probably null
IGL02348:Mdga2	APN	12	66,550,575 (GRCm38)	missense	probably damaging	1.00
IGL02473:Mdga2	APN	12	66,550,611 (GRCm38)	missense	possibly damaging	0.73
IGL02795:Mdga2	APN	12	66,689,432 (GRCm38)	missense	probably benign	0.00
IGL02901:Mdga2	APN	12	66,797,809 (GRCm38)	splice site	probably benign
IGL03373:Mdga2	APN	12	66,716,722 (GRCm38)	missense	probably damaging	0.99
PIT4362001:Mdga2	UTSW	12	66,797,768 (GRCm38)	missense	possibly damaging	0.83
PIT4377001:Mdga2	UTSW	12	66,716,695 (GRCm38)	missense	probably damaging	0.99
R0106:Mdga2	UTSW	12	66,716,706 (GRCm38)	missense	probably damaging	1.00
R0106:Mdga2	UTSW	12	66,716,706 (GRCm38)	missense	probably damaging	1.00
R0110:Mdga2	UTSW	12	66,470,926 (GRCm38)	missense	possibly damaging	0.66
R0218:Mdga2	UTSW	12	66,655,120 (GRCm38)	missense	probably damaging	1.00
R0450:Mdga2	UTSW	12	66,470,926 (GRCm38)	missense	possibly damaging	0.66
R0801:Mdga2	UTSW	12	66,486,733 (GRCm38)	missense	probably damaging	1.00
R0847:Mdga2	UTSW	12	66,723,080 (GRCm38)	missense	probably damaging	1.00
R1056:Mdga2	UTSW	12	66,723,120 (GRCm38)	missense	probably damaging	0.97
R1086:Mdga2	UTSW	12	66,506,102 (GRCm38)	splice site	probably benign
R1335:Mdga2	UTSW	12	66,716,742 (GRCm38)	splice site	probably null
R1382:Mdga2	UTSW	12	66,470,916 (GRCm38)	missense	possibly damaging	0.68
R1490:Mdga2	UTSW	12	66,797,756 (GRCm38)	missense	probably benign	0.01
R1521:Mdga2	UTSW	12	66,568,926 (GRCm38)	missense	probably benign	0.00
R1556:Mdga2	UTSW	12	66,550,593 (GRCm38)	missense	possibly damaging	0.92
R1676:Mdga2	UTSW	12	66,568,773 (GRCm38)	nonsense	probably null
R1676:Mdga2	UTSW	12	66,568,772 (GRCm38)	missense	probably damaging	1.00
R1698:Mdga2	UTSW	12	66,689,335 (GRCm38)	missense	probably damaging	0.97
R1954:Mdga2	UTSW	12	66,486,708 (GRCm38)	splice site	probably benign
R2069:Mdga2	UTSW	12	66,568,917 (GRCm38)	nonsense	probably null
R2077:Mdga2	UTSW	12	66,655,362 (GRCm38)	missense	probably damaging	1.00
R2118:Mdga2	UTSW	12	66,868,752 (GRCm38)	missense	probably damaging	1.00
R2146:Mdga2	UTSW	12	66,868,741 (GRCm38)	missense	probably damaging	1.00
R2158:Mdga2	UTSW	12	66,689,381 (GRCm38)	missense	possibly damaging	0.64
R2293:Mdga2	UTSW	12	66,568,985 (GRCm38)	nonsense	probably null
R2886:Mdga2	UTSW	12	66,506,270 (GRCm38)	splice site	probably benign
R2960:Mdga2	UTSW	12	66,629,978 (GRCm38)	nonsense	probably null
R3937:Mdga2	UTSW	12	67,221,206 (GRCm38)	unclassified	probably benign
R4437:Mdga2	UTSW	12	66,473,198 (GRCm38)	splice site	probably null
R4514:Mdga2	UTSW	12	66,716,722 (GRCm38)	missense	probably damaging	0.99
R4693:Mdga2	UTSW	12	66,797,633 (GRCm38)	missense	possibly damaging	0.81
R4719:Mdga2	UTSW	12	66,471,001 (GRCm38)	unclassified	probably benign
R4744:Mdga2	UTSW	12	66,797,727 (GRCm38)	missense	probably benign	0.01
R4756:Mdga2	UTSW	12	66,797,653 (GRCm38)	missense	probably damaging	1.00
R4781:Mdga2	UTSW	12	66,797,622 (GRCm38)	splice site	probably null
R5022:Mdga2	UTSW	12	66,470,760 (GRCm38)	missense	possibly damaging	0.83
R5108:Mdga2	UTSW	12	66,486,741 (GRCm38)	missense	probably benign	0.43
R5479:Mdga2	UTSW	12	66,655,176 (GRCm38)	missense	probably damaging	1.00
R5710:Mdga2	UTSW	12	66,506,782 (GRCm38)	missense	probably damaging	1.00
R5816:Mdga2	UTSW	12	66,655,182 (GRCm38)	missense	probably damaging	1.00
R5822:Mdga2	UTSW	12	66,655,335 (GRCm38)	missense	probably damaging	1.00
R5996:Mdga2	UTSW	12	66,797,763 (GRCm38)	missense	probably benign	0.00
R6038:Mdga2	UTSW	12	66,630,053 (GRCm38)	missense	probably damaging	1.00
R6038:Mdga2	UTSW	12	66,630,053 (GRCm38)	missense	probably damaging	1.00
R6297:Mdga2	UTSW	12	66,506,253 (GRCm38)	missense	probably damaging	1.00
R6484:Mdga2	UTSW	12	66,630,069 (GRCm38)	missense	possibly damaging	0.90
R6830:Mdga2	UTSW	12	66,723,001 (GRCm38)	missense	probably damaging	1.00
R6912:Mdga2	UTSW	12	66,506,115 (GRCm38)	missense	probably benign	0.01
R6971:Mdga2	UTSW	12	66,550,561 (GRCm38)	missense	probably damaging	1.00
R7053:Mdga2	UTSW	12	66,689,384 (GRCm38)	missense	probably benign	0.41
R7069:Mdga2	UTSW	12	66,486,752 (GRCm38)	missense	probably benign	0.31
R7381:Mdga2	UTSW	12	66,568,896 (GRCm38)	missense	probably benign	0.44
R7474:Mdga2	UTSW	12	66,486,761 (GRCm38)	nonsense	probably null
R7559:Mdga2	UTSW	12	66,473,229 (GRCm38)	missense	probably damaging	1.00
R7581:Mdga2	UTSW	12	66,506,255 (GRCm38)	missense	probably damaging	0.99
R7596:Mdga2	UTSW	12	66,506,123 (GRCm38)	missense	probably damaging	0.99
R7745:Mdga2	UTSW	12	66,689,351 (GRCm38)	missense	possibly damaging	0.63
R7745:Mdga2	UTSW	12	66,689,350 (GRCm38)	missense	probably damaging	0.99
R7852:Mdga2	UTSW	12	66,470,950 (GRCm38)	missense	possibly damaging	0.66
R8144:Mdga2	UTSW	12	66,655,263 (GRCm38)	missense	probably damaging	1.00
R8319:Mdga2	UTSW	12	67,221,029 (GRCm38)	missense	unknown
R8715:Mdga2	UTSW	12	66,868,752 (GRCm38)	missense	probably damaging	1.00
R8977:Mdga2	UTSW	12	66,797,635 (GRCm38)	missense	possibly damaging	0.88
R9138:Mdga2	UTSW	12	66,568,889 (GRCm38)	missense	possibly damaging	0.89
R9177:Mdga2	UTSW	12	66,470,707 (GRCm38)	missense	possibly damaging	0.66
R9223:Mdga2	UTSW	12	66,568,860 (GRCm38)	missense	possibly damaging	0.81
R9248:Mdga2	UTSW	12	66,689,452 (GRCm38)	missense	possibly damaging	0.87
R9264:Mdga2	UTSW	12	66,513,283 (GRCm38)	missense	probably damaging	1.00
R9381:Mdga2	UTSW	12	66,550,530 (GRCm38)	missense	possibly damaging	0.64
R9456:Mdga2	UTSW	12	66,568,758 (GRCm38)	missense	probably benign	0.44
R9633:Mdga2	UTSW	12	66,689,432 (GRCm38)	missense	probably benign	0.00
Z1176:Mdga2	UTSW	12	66,689,443 (GRCm38)	missense	probably damaging	1.00
Z1186:Mdga2	UTSW	12	66,568,953 (GRCm38)	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