Mutagenetix > Incidental Mutation

Incidental Mutation 'R9381:Mdga2'

710053

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9381 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

66466060-67222549 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66550530 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 730 (N730S)

Ref Sequence

ENSEMBL: ENSMUSP00000046761 (fasta)

Gene Model

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

AlphaFold

P60755

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037181
AA Change: N730S

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000046761
Gene: ENSMUSG00000034912
AA Change: N730S

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

SMART Domains

Protein: ENSMUSP00000137608
Gene: ENSMUSG00000034912
AA Change: N720S

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

possibly damaging
Transcript: ENSMUST00000222167
AA Change: N661S

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222623
AA Change: N2S

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

probably damaging
Transcript: ENSMUST00000222987
AA Change: N2S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000223141
AA Change: N661S

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 29,247,623		probably benign	Het
9930111J21Rik1	T	A	11: 48,948,377	K461M	probably damaging	Het
Abhd16b	A	G	2: 181,494,088	Y261C	probably damaging	Het
Acadl	T	C	1: 66,854,646	T117A	probably benign	Het
Adamts15	A	G	9: 30,902,520	V783A	probably damaging	Het
Aff1	A	T	5: 103,833,867	Q624L	possibly damaging	Het
Afg3l2	T	G	18: 67,442,381	E74A	probably damaging	Het
Aig1	T	C	10: 13,647,673	E238G	probably benign	Het
Ankrd17	C	T	5: 90,268,649	R1108Q	probably damaging	Het
Anks1	A	T	17: 28,054,005	Y958F	probably damaging	Het
Arhgef28	C	A	13: 97,899,761	Q1663H	possibly damaging	Het
Asb3	T	C	11: 31,101,088	L475P	probably damaging	Het
Atg9a	T	A	1: 75,186,082	M430L	probably benign	Het
Bco1	T	A	8: 117,110,892	V164E	probably benign	Het
Bhlhe40	T	C	6: 108,665,283	L396P	probably damaging	Het
C5ar2	A	T	7: 16,236,962	S347T	probably damaging	Het
Cdc42bpa	T	C	1: 180,141,483	S1212P	probably damaging	Het
Ceacam3	C	G	7: 17,159,790	Q409E		Het
Ces3b	T	C	8: 105,085,038	V62A	probably benign	Het
Dalrd3	A	G	9: 108,571,043		probably null	Het
Ddhd2	G	T	8: 25,749,822	A288E	probably benign	Het
Dnah17	T	A	11: 118,023,393	M4435L	probably benign	Het
Dok1	T	C	6: 83,032,991	K46E	probably damaging	Het
E030025P04Rik	A	G	11: 109,139,558	Y168H	unknown	Het
Elavl2	T	C	4: 91,308,772	N23S	probably benign	Het
Elfn1	T	C	5: 139,973,707	V822A	probably damaging	Het
Emb	G	T	13: 117,220,560		probably benign	Het
Exoc5	C	T	14: 49,037,737	S202N	probably benign	Het
Fryl	T	C	5: 73,083,294	D1321G	probably benign	Het
Gm12258	C	T	11: 58,859,181	T394I	unknown	Het
Gm28363	T	A	1: 117,726,885	S85T	probably damaging	Het
Gm5724	T	C	6: 141,765,764	I74V	probably benign	Het
H2-Q1	A	G	17: 35,323,162	T237A	probably damaging	Het
Hectd4	A	T	5: 121,334,429	I2743F	possibly damaging	Het
Hs3st3b1	C	T	11: 63,921,866	G8S	probably benign	Het
Ighv1-16	T	C	12: 114,665,978	N63S	probably benign	Het
Il20rb	A	G	9: 100,461,488	F238L	possibly damaging	Het
Il31ra	A	T	13: 112,531,719	F439I	possibly damaging	Het
Jup	C	T	11: 100,379,565	C372Y	probably damaging	Het
Kat2a	T	C	11: 100,711,866	Q132R	possibly damaging	Het
Kcnq2	A	G	2: 181,109,769	I278T	probably damaging	Het
Lama1	T	C	17: 67,737,484	V126A		Het
Lama2	T	A	10: 27,188,027	R1285*	probably null	Het
Larp1	A	G	11: 58,058,706	T1054A	probably benign	Het
Lrp1	A	T	10: 127,605,468	M262K	probably benign	Het
Lrrd1	A	G	5: 3,851,074	I460V	probably benign	Het
Ltbp1	A	T	17: 75,389,439	N1606I	probably damaging	Het
Mpzl1	T	C	1: 165,601,754	H236R	probably damaging	Het
Mrps31	G	A	8: 22,414,736	R47K	probably damaging	Het
Nae1	A	T	8: 104,523,607	I218K	probably benign	Het
Npy2r	T	C	3: 82,541,049	T140A	probably damaging	Het
Nr2e1	T	A	10: 42,563,472	L350F	probably damaging	Het
Nup210l	C	T	3: 90,199,866	P1570L	probably benign	Het
Olfr1489	G	T	19: 13,633,283	M57I	probably damaging	Het
Olfr469	A	C	7: 107,822,605	L288W	probably damaging	Het
Olfr557	A	T	7: 102,698,447	M70L	probably damaging	Het
Pabpc1l	G	T	2: 164,025,503	C8F	probably benign	Het
Pafah1b3	A	C	7: 25,295,274	F172V	probably benign	Het
Pcdhga6	A	T	18: 37,708,318	T364S	probably damaging	Het
Ppp3cc	T	A	14: 70,224,992	M399L	probably benign	Het
Prpsap2	T	C	11: 61,744,956	I173V	probably benign	Het
Rabggtb	A	T	3: 153,908,180	W252R	probably damaging	Het
Raph1	A	G	1: 60,501,800	F351L	unknown	Het
Rasd2	T	C	8: 75,221,961	S172P	probably damaging	Het
Rbm15	T	C	3: 107,331,436	T549A	probably benign	Het
Reln	A	G	5: 22,344,204	Y69H	possibly damaging	Het
Samd3	T	A	10: 26,271,745	N439K	probably benign	Het
Scap	C	A	9: 110,378,771	A516D	probably damaging	Het
Selplg	T	C	5: 113,819,856	T130A	probably benign	Het
Slc12a7	A	G	13: 73,800,944	M697V	probably benign	Het
Slc22a29	A	G	19: 8,218,477	I66T	probably benign	Het
Snrnp48	A	C	13: 38,220,691	I241L	probably damaging	Het
Sptb	C	T	12: 76,587,518	E2140K	probably benign	Het
Strip2	T	C	6: 29,927,334	S192P	probably benign	Het
Svil	A	T	18: 5,099,013	R1643S	probably benign	Het
Tbc1d2b	A	G	9: 90,219,086	V617A	possibly damaging	Het
Tmem102	T	C	11: 69,804,315	E277G	probably benign	Het
Tmtc4	T	G	14: 122,926,029	I648L	probably benign	Het
Togaram1	T	C	12: 64,967,430	V485A	probably damaging	Het
Trim43b	T	C	9: 89,087,589	I269V	probably benign	Het
Trpm2	T	A	10: 77,911,357	I1436F	possibly damaging	Het
Ube2d3	A	T	3: 135,462,961	I106F	possibly damaging	Het
Vdr	G	A	15: 97,857,452	R397C	probably damaging	Het
Vps50	T	C	6: 3,592,433	S689P	probably benign	Het
Wipf2	A	G	11: 98,896,242	T366A	probably damaging	Het
Zfp128	T	C	7: 12,890,970	Y422H	possibly damaging	Het
Zfyve28	G	A	5: 34,216,588	T694I	probably benign	Het

Other mutations in Mdga2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01343:Mdga2	APN	12	66723109	missense	probably damaging	0.97
IGL01632:Mdga2	APN	12	66629898	splice site	probably benign
IGL01843:Mdga2	APN	12	66723131	critical splice acceptor site	probably null
IGL02230:Mdga2	APN	12	66655423	nonsense	probably null
IGL02348:Mdga2	APN	12	66550575	missense	probably damaging	1.00
IGL02473:Mdga2	APN	12	66550611	missense	possibly damaging	0.73
IGL02795:Mdga2	APN	12	66689432	missense	probably benign	0.00
IGL02901:Mdga2	APN	12	66797809	splice site	probably benign
IGL03373:Mdga2	APN	12	66716722	missense	probably damaging	0.99
PIT4362001:Mdga2	UTSW	12	66797768	missense	possibly damaging	0.83
PIT4377001:Mdga2	UTSW	12	66716695	missense	probably damaging	0.99
R0106:Mdga2	UTSW	12	66716706	missense	probably damaging	1.00
R0106:Mdga2	UTSW	12	66716706	missense	probably damaging	1.00
R0110:Mdga2	UTSW	12	66470926	missense	possibly damaging	0.66
R0218:Mdga2	UTSW	12	66655120	missense	probably damaging	1.00
R0450:Mdga2	UTSW	12	66470926	missense	possibly damaging	0.66
R0801:Mdga2	UTSW	12	66486733	missense	probably damaging	1.00
R0847:Mdga2	UTSW	12	66723080	missense	probably damaging	1.00
R1056:Mdga2	UTSW	12	66723120	missense	probably damaging	0.97
R1086:Mdga2	UTSW	12	66506102	splice site	probably benign
R1335:Mdga2	UTSW	12	66716742	splice site	probably null
R1382:Mdga2	UTSW	12	66470916	missense	possibly damaging	0.68
R1490:Mdga2	UTSW	12	66797756	missense	probably benign	0.01
R1521:Mdga2	UTSW	12	66568926	missense	probably benign	0.00
R1556:Mdga2	UTSW	12	66550593	missense	possibly damaging	0.92
R1676:Mdga2	UTSW	12	66568772	missense	probably damaging	1.00
R1676:Mdga2	UTSW	12	66568773	nonsense	probably null
R1698:Mdga2	UTSW	12	66689335	missense	probably damaging	0.97
R1954:Mdga2	UTSW	12	66486708	splice site	probably benign
R2069:Mdga2	UTSW	12	66568917	nonsense	probably null
R2077:Mdga2	UTSW	12	66655362	missense	probably damaging	1.00
R2118:Mdga2	UTSW	12	66868752	missense	probably damaging	1.00
R2146:Mdga2	UTSW	12	66868741	missense	probably damaging	1.00
R2158:Mdga2	UTSW	12	66689381	missense	possibly damaging	0.64
R2189:Mdga2	UTSW	12	66473196	splice site	probably null
R2293:Mdga2	UTSW	12	66568985	nonsense	probably null
R2886:Mdga2	UTSW	12	66506270	splice site	probably benign
R2960:Mdga2	UTSW	12	66629978	nonsense	probably null
R3937:Mdga2	UTSW	12	67221206	unclassified	probably benign
R4437:Mdga2	UTSW	12	66473198	splice site	probably null
R4514:Mdga2	UTSW	12	66716722	missense	probably damaging	0.99
R4693:Mdga2	UTSW	12	66797633	missense	possibly damaging	0.81
R4719:Mdga2	UTSW	12	66471001	unclassified	probably benign
R4744:Mdga2	UTSW	12	66797727	missense	probably benign	0.01
R4756:Mdga2	UTSW	12	66797653	missense	probably damaging	1.00
R4781:Mdga2	UTSW	12	66797622	splice site	probably null
R5022:Mdga2	UTSW	12	66470760	missense	possibly damaging	0.83
R5108:Mdga2	UTSW	12	66486741	missense	probably benign	0.43
R5479:Mdga2	UTSW	12	66655176	missense	probably damaging	1.00
R5710:Mdga2	UTSW	12	66506782	missense	probably damaging	1.00
R5816:Mdga2	UTSW	12	66655182	missense	probably damaging	1.00
R5822:Mdga2	UTSW	12	66655335	missense	probably damaging	1.00
R5996:Mdga2	UTSW	12	66797763	missense	probably benign	0.00
R6038:Mdga2	UTSW	12	66630053	missense	probably damaging	1.00
R6038:Mdga2	UTSW	12	66630053	missense	probably damaging	1.00
R6297:Mdga2	UTSW	12	66506253	missense	probably damaging	1.00
R6484:Mdga2	UTSW	12	66630069	missense	possibly damaging	0.90
R6830:Mdga2	UTSW	12	66723001	missense	probably damaging	1.00
R6912:Mdga2	UTSW	12	66506115	missense	probably benign	0.01
R6971:Mdga2	UTSW	12	66550561	missense	probably damaging	1.00
R7053:Mdga2	UTSW	12	66689384	missense	probably benign	0.41
R7069:Mdga2	UTSW	12	66486752	missense	probably benign	0.31
R7381:Mdga2	UTSW	12	66568896	missense	probably benign	0.44
R7474:Mdga2	UTSW	12	66486761	nonsense	probably null
R7559:Mdga2	UTSW	12	66473229	missense	probably damaging	1.00
R7581:Mdga2	UTSW	12	66506255	missense	probably damaging	0.99
R7596:Mdga2	UTSW	12	66506123	missense	probably damaging	0.99
R7745:Mdga2	UTSW	12	66689350	missense	probably damaging	0.99
R7745:Mdga2	UTSW	12	66689351	missense	possibly damaging	0.63
R7852:Mdga2	UTSW	12	66470950	missense	possibly damaging	0.66
R8144:Mdga2	UTSW	12	66655263	missense	probably damaging	1.00
R8319:Mdga2	UTSW	12	67221029	missense	unknown
R8715:Mdga2	UTSW	12	66868752	missense	probably damaging	1.00
R8977:Mdga2	UTSW	12	66797635	missense	possibly damaging	0.88
R9138:Mdga2	UTSW	12	66568889	missense	possibly damaging	0.89
R9177:Mdga2	UTSW	12	66470707	missense	possibly damaging	0.66
R9223:Mdga2	UTSW	12	66568860	missense	possibly damaging	0.81
R9248:Mdga2	UTSW	12	66689452	missense	possibly damaging	0.87
R9264:Mdga2	UTSW	12	66513283	missense	probably damaging	1.00
R9456:Mdga2	UTSW	12	66568758	missense	probably benign	0.44
R9633:Mdga2	UTSW	12	66689432	missense	probably benign	0.00
Z1176:Mdga2	UTSW	12	66689443	missense	probably damaging	1.00
Z1186:Mdga2	UTSW	12	66568953	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- AGGCTGAGAGGAAATAACTTCAATA -3'
(R):5'- TACAAGCAGAATAGTTCCTTATGGA -3'

Sequencing Primer
(F):5'- AGTCTGAAGAAGGGACTAC -3'
(R):5'- ATTCCTCTAAGCTGGGGCATCAAG -3'

Posted On

2022-04-18