Mutagenetix > Incidental Mutation

Incidental Mutation 'R7673:Gdap2'

592290

Institutional Source

Beutler Lab

Gene Symbol

Gdap2

Ensembl Gene

ENSMUSG00000027865

Gene Name

ganglioside-induced differentiation-associated-protein 2

Synonyms

D3Ertd801e

MMRRC Submission

045743-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7673 (G1)

Quality Score

187.009

Status

Validated

Chromosome

Chromosomal Location

100162381-100206981 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100191699 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 369 (D369G)

Ref Sequence

ENSEMBL: ENSMUSP00000029459 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029459] [ENSMUST00000106997] [ENSMUST00000197797]

AlphaFold

Q9DBL2

Predicted Effect

probably benign
Transcript: ENSMUST00000029459
AA Change: D369G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000029459
Gene: ENSMUSG00000027865
AA Change: D369G

Domain	Start	End	E-Value	Type
Pfam:Macro	72	185	1.3e-30	PFAM
low complexity region	265	274	N/A	INTRINSIC
SEC14	334	482	5.41e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106997
AA Change: D369G

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000102610
Gene: ENSMUSG00000027865
AA Change: D369G

Domain	Start	End	E-Value	Type
Pfam:Macro	72	185	4.4e-32	PFAM
low complexity region	265	274	N/A	INTRINSIC
SEC14	334	482	5.41e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000197797

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (72/72)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	C	A	5: 76,882,708	A682S	probably benign	Het
Acad11	A	T	9: 104,063,906		probably null	Het
Ahctf1	A	T	1: 179,762,846	D1287E	probably benign	Het
Aldh9a1	C	A	1: 167,361,550	L360M	probably benign	Het
Ank3	A	T	10: 69,990,501	I1667F		Het
Atp8b3	A	G	10: 80,524,406	Y944H	probably damaging	Het
Ccdc30	T	C	4: 119,353,172	D316G	probably damaging	Het
Ccdc50	T	C	16: 27,406,675	I46T	possibly damaging	Het
Cfap74	T	G	4: 155,463,056	I1233S	unknown	Het
Chd9	A	G	8: 91,051,697	M2779V	probably damaging	Het
Cmya5	A	T	13: 93,094,121	D1486E	probably benign	Het
Creb3	T	C	4: 43,563,117	V72A	not run	Het
Cxcl17	C	A	7: 25,402,868	C50F	probably damaging	Het
Dcaf11	C	A	14: 55,569,305	N528K	probably benign	Het
Ddx46	T	C	13: 55,659,159	V535A	probably benign	Het
Det1	A	T	7: 78,843,611	V215D	possibly damaging	Het
Dnaja3	A	G	16: 4,694,464	N244S	probably benign	Het
Dnajc13	G	T	9: 104,233,692	P127T	probably benign	Het
Dnm2	T	A	9: 21,481,421		probably null	Het
Fam117a	G	T	11: 95,371,496	R142L	probably benign	Het
Fpr-rs6	T	C	17: 20,182,737	M121V	probably benign	Het
Gatad1	T	C	5: 3,646,867	T95A	probably benign	Het
Gm12185	A	T	11: 48,907,628	D679E	probably benign	Het
Gm5519	G	C	19: 33,825,028	G157A	probably benign	Het
Gm960	A	C	19: 4,645,633	D530E	probably damaging	Het
Gmeb2	T	A	2: 181,260,388	H123L	probably benign	Het
Golgb1	C	T	16: 36,913,669	P1134S	probably benign	Het
Gsdmc2	G	T	15: 63,825,083	A413D	probably damaging	Het
Hck	C	T	2: 153,129,085	A89V	possibly damaging	Het
Heatr5b	G	A	17: 78,795,983	T1147M	probably damaging	Het
Hoxb2	A	T	11: 96,353,457	D298V	possibly damaging	Het
Hrc	A	G	7: 45,337,234	E603G	probably benign	Het
Hsd3b5	C	A	3: 98,619,441	A230S	probably damaging	Het
Hsh2d	A	G	8: 72,200,511	S246G	probably benign	Het
Ifna4	A	C	4: 88,842,072	Q71P	possibly damaging	Het
Il4i1	A	G	7: 44,840,362	E517G	probably benign	Het
Kdm6b	A	C	11: 69,405,742	S566R	probably damaging	Het
Lamc2	T	A	1: 153,124,036	Q1192H	probably damaging	Het
Map2	T	C	1: 66,413,774	S608P	probably benign	Het
March9	T	C	10: 127,056,599	E340G	probably damaging	Het
Mcm3	A	G	1: 20,812,014	L442P	probably damaging	Het
Mreg	A	C	1: 72,160,964	M189R	probably benign	Het
Myh4	A	T	11: 67,245,513	R406W	probably damaging	Het
Nol8	A	G	13: 49,664,780	D842G	probably benign	Het
Nrros	T	A	16: 32,162,281	I10F	unknown	Het
Obscn	G	A	11: 59,027,437	P210S		Het
Olfr1085	T	C	2: 86,657,726	H244R	probably damaging	Het
Olfr1312	T	A	2: 112,042,580	M151L	probably benign	Het
Olfr889	A	T	9: 38,116,227	T149S	probably benign	Het
Olfr998	T	C	2: 85,591,062	I174T	possibly damaging	Het
Orai1	A	G	5: 123,029,442	H226R	probably benign	Het
Pcdhb18	G	T	18: 37,491,737	V707L	probably benign	Het
Pex5	A	T	6: 124,399,383	L420Q	probably damaging	Het
Rab8a	A	G	8: 72,161,296		probably benign	Het
Rexo4	G	A	2: 26,958,493	H339Y	probably benign	Het
Rif1	G	A	2: 52,088,654	V369M	probably damaging	Het
Rpgrip1l	A	T	8: 91,300,787	I208K	possibly damaging	Het
Sbno1	G	A	5: 124,413,216	P68L	probably benign	Het
Selenop	G	T	15: 3,274,858	C62F	probably damaging	Het
Slc13a4	A	T	6: 35,276,476	V397D	probably damaging	Het
Slc4a3	T	C	1: 75,557,351	V1114A	probably damaging	Het
Stard3nl	A	T	13: 19,367,753	S214T	probably benign	Het
Stra8	T	A	6: 34,927,918		probably null	Het
Stx8	T	C	11: 67,984,639	F97L	probably benign	Het
Thsd7b	A	G	1: 129,915,750		probably null	Het
Tmem94	T	C	11: 115,788,378	I251T	probably benign	Het
Toporsl	A	T	4: 52,610,679	T191S	probably damaging	Het
Vmn1r53	T	A	6: 90,223,643	E233V	probably damaging	Het
Wdr49	A	T	3: 75,450,907	L177Q	probably damaging	Het
Wnt8b	T	C	19: 44,511,688	L238P	possibly damaging	Het
Xirp2	T	C	2: 67,517,087	V3224A	probably damaging	Het
Zfp583	G	T	7: 6,317,010	N334K	possibly damaging	Het
Zfp60	T	A	7: 27,748,315	I136N	probably benign	Het
Zmynd15	G	T	11: 70,466,040	R722L	unknown	Het

Other mutations in Gdap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01508:Gdap2	APN	3	100170927	missense	possibly damaging	0.62
IGL02342:Gdap2	APN	3	100178316	missense	probably damaging	1.00
IGL02684:Gdap2	APN	3	100171020	missense	probably benign	0.13
R0128:Gdap2	UTSW	3	100201995	missense	probably damaging	1.00
R0130:Gdap2	UTSW	3	100201995	missense	probably damaging	1.00
R0344:Gdap2	UTSW	3	100178256	missense	probably damaging	1.00
R0588:Gdap2	UTSW	3	100170001	start codon destroyed	probably null	1.00
R1521:Gdap2	UTSW	3	100194615	missense	possibly damaging	0.61
R2168:Gdap2	UTSW	3	100187883	missense	probably benign
R3040:Gdap2	UTSW	3	100188035	critical splice donor site	probably null
R4793:Gdap2	UTSW	3	100170918	missense	probably damaging	1.00
R5406:Gdap2	UTSW	3	100191675	missense	probably damaging	1.00
R5438:Gdap2	UTSW	3	100178313	missense	probably damaging	1.00
R5987:Gdap2	UTSW	3	100202256	intron	probably benign
R6816:Gdap2	UTSW	3	100191705	critical splice donor site	probably null
R7307:Gdap2	UTSW	3	100202033	missense	unknown
R7424:Gdap2	UTSW	3	100202066	missense	unknown
R8221:Gdap2	UTSW	3	100202295	missense	unknown
R9414:Gdap2	UTSW	3	100182755	critical splice donor site	probably null
R9562:Gdap2	UTSW	3	100191690	missense	possibly damaging	0.74
R9599:Gdap2	UTSW	3	100170948	missense	probably damaging	1.00
R9691:Gdap2	UTSW	3	100202125	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ACGCATGTGCATCTCATTTC -3'
(R):5'- TTCTGGAGTAGAATCGGAGCC -3'

Sequencing Primer
(F):5'- ACGCATGTGCATCTCATTTCTTATTG -3'
(R):5'- AGTAGAATCGGAGCCCTCTG -3'

Posted On

2019-11-12