Mutagenetix > Incidental Mutation

Incidental Mutation 'R5710:Mdga2'

452183

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

044396-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5710 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

66512834-67269323 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 66553556 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 98 (L98F)

Ref Sequence

ENSEMBL: ENSMUSP00000152049 (fasta)

Gene Model

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

AlphaFold

P60755

Predicted Effect

probably damaging
Transcript: ENSMUST00000037181
AA Change: L826F

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000046761
Gene: ENSMUSG00000034912
AA Change: L826F

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

unknown
Transcript: ENSMUST00000178814
AA Change: L809F

SMART Domains

Protein: ENSMUSP00000137608
Gene: ENSMUSG00000034912
AA Change: L809F

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

noncoding transcript
Transcript: ENSMUST00000221809

Predicted Effect

probably damaging
Transcript: ENSMUST00000222167
AA Change: L757F

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000222623
AA Change: L98F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000222987
AA Change: L98F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000223141
AA Change: L750F

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223289

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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
Adam28	G	A	14: 68,847,357 (GRCm39)	H713Y	probably damaging	Het
Adam39	A	T	8: 41,277,684 (GRCm39)	Y25F	probably benign	Het
Ankfn1	T	C	11: 89,394,751 (GRCm39)	N278S	probably benign	Het
Aqp7	G	A	4: 41,035,510 (GRCm39)	T115I	probably benign	Het
Arhgap18	G	A	10: 26,736,729 (GRCm39)		probably null	Het
Bcl2a1b	A	C	9: 89,081,732 (GRCm39)	Q107P	probably benign	Het
Btbd9	A	G	17: 30,447,842 (GRCm39)	S525P	probably benign	Het
Cabin1	A	G	10: 75,482,852 (GRCm39)	S2093P	probably benign	Het
Ccnd1	T	C	7: 144,491,781 (GRCm39)	D86G	possibly damaging	Het
Chdh	C	A	14: 29,756,584 (GRCm39)	Q337K	probably damaging	Het
Cldn9	T	C	17: 23,902,421 (GRCm39)	D68G	probably damaging	Het
Cpt1b	T	A	15: 89,309,409 (GRCm39)	K41N	probably damaging	Het
Dsg1c	T	C	18: 20,405,408 (GRCm39)	Y274H	probably benign	Het
Eif2ak3	T	A	6: 70,860,717 (GRCm39)	I431N	probably damaging	Het
Erbb2	T	A	11: 98,317,906 (GRCm39)	W416R	probably damaging	Het
Fgd3	T	A	13: 49,450,205 (GRCm39)	I15F	probably benign	Het
Fkbp14	T	A	6: 54,566,255 (GRCm39)		probably null	Het
Havcr1	T	C	11: 46,643,353 (GRCm39)	V91A	probably damaging	Het
Kmt2d	T	C	15: 98,751,987 (GRCm39)		probably benign	Het
Lipc	T	A	9: 70,719,979 (GRCm39)	I343F	probably benign	Het
Madd	T	C	2: 90,984,821 (GRCm39)	T1331A	probably damaging	Het
Mcm5	A	C	8: 75,847,538 (GRCm39)	D445A	probably damaging	Het
Micall1	C	A	15: 79,011,290 (GRCm39)	H553Q	probably damaging	Het
Mxd4	A	G	5: 34,344,671 (GRCm39)		probably null	Het
Peg10	CC	CCCCATCAGGC	6: 4,756,350 (GRCm39)		probably benign	Het
Peg10	C	CCCATCAGGA	6: 4,756,351 (GRCm39)		probably benign	Het
Prtg	T	A	9: 72,716,922 (GRCm39)	Y88N	probably damaging	Het
Saxo1	C	T	4: 86,363,272 (GRCm39)	V404I	possibly damaging	Het
Sclt1	C	A	3: 41,618,398 (GRCm39)	E14*	probably null	Het
Shfl	G	T	9: 20,784,192 (GRCm39)	R138L	possibly damaging	Het
Strn	G	A	17: 78,995,028 (GRCm39)	L162F	probably damaging	Het
T	T	C	17: 8,660,474 (GRCm39)	S221P	probably benign	Het
Tbl1xr1	A	G	3: 22,264,578 (GRCm39)	D511G	probably damaging	Het
Ttc7	A	C	17: 87,597,674 (GRCm39)	N82T	probably damaging	Het
Ttn	C	T	2: 76,747,786 (GRCm39)	R4421H	possibly damaging	Het
Uaca	T	A	9: 60,779,093 (GRCm39)	L1158Q	probably damaging	Het
Vdr	T	C	15: 97,757,008 (GRCm39)	Y288C	probably damaging	Het
Vdr	A	T	15: 97,765,089 (GRCm39)	S217T	probably benign	Het
Zhx2	T	A	15: 57,684,866 (GRCm39)	Y78*	probably null	Het
Znhit1	C	T	5: 137,011,456 (GRCm39)	C119Y	probably 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
R2189:Mdga2	UTSW	12	66,519,970 (GRCm39)	splice site	probably null
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
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'- ACATTTCCAGCTCTCCAGGC -3'
(R):5'- TTGTATGTACATGCAGAAATGACGG -3'

Sequencing Primer
(F):5'- AGCTCTCCAGGCGCTGTAC -3'
(R):5'- CATGCAGAAATGACGGAATGTAACC -3'

Posted On

2017-01-03