Mutagenetix > Incidental Mutations

Incidental Mutation 'R0588:Gdap2'

55831

Institutional Source

Beutler Lab

Gene Symbol

Gdap2

Ensembl Gene

ENSMUSG00000027865

Gene Name

ganglioside-induced differentiation-associated-protein 2

Synonyms

D3Ertd801e

MMRRC Submission

038778-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0588 (G1)

Quality Score

138

Status

Validated

Chromosome

Chromosomal Location

100162381-100206981 bp(+) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to A at 100170001 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000102610 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000029459
AA Change: M1K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029459
Gene: ENSMUSG00000027865
AA Change: M1K

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
AA Change: M1K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102610
Gene: ENSMUSG00000027865
AA Change: M1K

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

noncoding transcript
Transcript: ENSMUST00000150223

Meta Mutation Damage Score

0.9552

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.8%

Validation Efficiency

100% (25/25)

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	A	6: 142,603,061	K1299*	probably null	Het
Adamts2	G	T	11: 50,776,664	W476C	probably damaging	Het
Ankrd13c	T	C	3: 158,005,817	F525L	probably damaging	Het
Arg1	T	C	10: 24,920,624	S102G	probably damaging	Het
Atp2a3	A	T	11: 72,973,024	D192V	possibly damaging	Het
Cabin1	T	C	10: 75,745,337	E385G	possibly damaging	Het
Cacna1h	A	T	17: 25,387,564	D1020E	probably damaging	Het
Calcb	C	T	7: 114,720,126	H48Y	probably benign	Het
Crtc1	A	G	8: 70,439,549	S4P	probably damaging	Het
Dcaf6	A	G	1: 165,420,223	I147T	possibly damaging	Het
Ears2	T	C	7: 122,044,291		probably benign	Het
Fas	T	C	19: 34,327,140	V267A	probably damaging	Het
Fus	T	C	7: 127,985,574	L84P	probably damaging	Het
Fyb	T	C	15: 6,580,459	V171A	probably benign	Het
Gprc5b	T	A	7: 118,983,995	Q217L	probably benign	Het
Lrrc69	A	G	4: 14,704,001	I273T	possibly damaging	Het
Map4k4	C	A	1: 40,004,864	Q556K	possibly damaging	Het
Npy6r	T	A	18: 44,275,821	V103E	possibly damaging	Het
Olfr1449	A	G	19: 12,934,747	Y3C	probably benign	Het
Shisa9	A	G	16: 12,267,774	T416A	probably damaging	Het
Slc26a9	C	A	1: 131,754,011		probably benign	Het
Sostdc1	G	T	12: 36,317,021		probably benign	Het
St18	T	A	1: 6,817,738	F510L	probably damaging	Het
Zdhhc7	A	G	8: 120,083,367		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
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
R7673:Gdap2	UTSW	3	100191699	missense	probably benign	0.01
R8221:Gdap2	UTSW	3	100202295	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTCCACAGCAGAGTCTGGTGCG -3'
(R):5'- GCCCATCAACCAGGAGCTGATAAG -3'

Sequencing Primer
(F):5'- GCGTTGGTGTGGTAGAATTAAAG -3'
(R):5'- tccaaaacaggcaaaccaac -3'

Posted On

2013-07-11