Mutagenetix > Incidental Mutations

Incidental Mutation 'R3040:Gdap2'

264915

Institutional Source

Beutler Lab

Gene Symbol

Gdap2

Ensembl Gene

ENSMUSG00000027865

Gene Name

ganglioside-induced differentiation-associated-protein 2

Synonyms

D3Ertd801e

MMRRC Submission

040556-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3040 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100162381-100206981 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 100188035 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102610 (fasta)

Gene Model

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

AlphaFold

Q9DBL2

Predicted Effect

probably null
Transcript: ENSMUST00000029459

SMART Domains

Protein: ENSMUSP00000029459
Gene: ENSMUSG00000027865

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 null
Transcript: ENSMUST00000106997

SMART Domains

Protein: ENSMUSP00000102610
Gene: ENSMUSG00000027865

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amotl1	A	C	9: 14,572,773	V498G	probably benign	Het
Ampd2	A	G	3: 108,076,416	Y602H	probably damaging	Het
Bahd1	C	T	2: 118,916,406	P169S	probably damaging	Het
Ccar1	G	T	10: 62,756,494	H760N	possibly damaging	Het
Cyp2c50	A	G	19: 40,098,126	N319S	probably benign	Het
Dcdc2c	G	C	12: 28,552,182	A41G	probably damaging	Het
Dzip3	G	A	16: 48,928,324	S1083F	probably damaging	Het
Etfdh	C	T	3: 79,604,919	R498Q	probably damaging	Het
Fam198b	T	A	3: 79,887,125	I300N	possibly damaging	Het
Fbn2	A	T	18: 58,093,387	C772S	probably damaging	Het
Gm10436	A	T	12: 88,178,348	S69R	probably benign	Het
Iqcj	T	C	3: 68,055,342	S79P	probably damaging	Het
Isg20l2	T	C	3: 87,931,995	V171A	probably benign	Het
Kcna7	GGCTGCGCGGTGCCGCCCGAGCGGCCGCTGC	GGCTGC	7: 45,406,788		probably null	Het
Luc7l	A	T	17: 26,277,619		probably benign	Het
Mepe	T	G	5: 104,338,122	L376R	probably damaging	Het
Myo9b	G	A	8: 71,334,337	R721Q	probably benign	Het
Nedd4	T	C	9: 72,669,961	F23L	probably benign	Het
Neurl1a	T	C	19: 47,239,831	S22P	probably benign	Het
Psmd2	T	C	16: 20,657,567	V470A	probably benign	Het
Pyroxd2	G	T	19: 42,735,518	Q323K	probably benign	Het
Slf2	A	G	19: 44,980,569	D1157G	probably damaging	Het
Styxl1	C	T	5: 135,757,033	A197T	probably damaging	Het
Tmem70	C	T	1: 16,667,765	T100M	possibly damaging	Het
Trip12	A	G	1: 84,742,245	V309A	probably benign	Het
Unc80	G	A	1: 66,639,305	V2082I	probably benign	Het
Vmn1r122	G	C	7: 21,133,446	P228R	probably benign	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
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
R7673:Gdap2	UTSW	3	100191699	missense	probably benign	0.01
R8221:Gdap2	UTSW	3	100202295	missense	unknown
R9414:Gdap2	UTSW	3	100182755	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GCACTCACAGTTAGTTTTGTTGTC -3'
(R):5'- GGCTTCCCCACATTAACTGAC -3'

Sequencing Primer
(F):5'- CTCTCTGCTGATGGAACTTTTTG -3'
(R):5'- CACATTAACTGACTCAACTTTTGGC -3'

Posted On

2015-02-05