Mutagenetix > Incidental Mutation

Incidental Mutation 'R5765:Gdap1'

446204

Institutional Source

Beutler Lab

Gene Symbol

Gdap1

Ensembl Gene

ENSMUSG00000025777

Gene Name

ganglioside-induced differentiation-associated-protein 1

Synonyms

MMRRC Submission

043366-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5765 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

17215586-17234495 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 17231650 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 332 (M332L)

Ref Sequence

ENSEMBL: ENSMUSP00000026879 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026879] [ENSMUST00000189736]

AlphaFold

O88741

Predicted Effect

probably benign
Transcript: ENSMUST00000026879
AA Change: M332L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000026879
Gene: ENSMUSG00000025777
AA Change: M332L

Domain	Start	End	E-Value	Type
Pfam:GST_N	24	99	2.8e-15	PFAM
Pfam:GST_N_3	28	105	8.1e-18	PFAM
Pfam:GST_N_2	33	100	2.7e-12	PFAM
Pfam:GST_C	148	287	3.5e-10	PFAM
Pfam:GST_C_2	160	282	5.8e-13	PFAM
Pfam:GST_C_3	164	285	8.5e-10	PFAM
transmembrane domain	292	309	N/A	INTRINSIC
transmembrane domain	319	341	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150457

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189465

Predicted Effect

probably benign
Transcript: ENSMUST00000189736

SMART Domains

Protein: ENSMUSP00000140406
Gene: ENSMUSG00000025777

Domain	Start	End	E-Value	Type
SCOP:d1eema2	19	55	4e-5	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

94% (51/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ganglioside-induced differentiation-associated protein family, which may play a role in a signal transduction pathway during neuronal development. Mutations in this gene have been associated with various forms of Charcot-Marie-Tooth Disease and neuropathy. Two transcript variants encoding different isoforms and a noncoding variant have been identified for this gene. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a null allele develop motor deficits and a peripheral neuropathy with loss of motor neurons and abnormal neuromuscular junctions. Cultured motor neurons show large and abnormal mitochondria, reduced axon length, changes in the ER cisternae, and altered calcium ion homeostasis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700086D15Rik	A	T	11: 65,044,066 (GRCm39)		probably benign	Het
Abcf2	T	C	5: 24,778,421 (GRCm39)	R246G	probably damaging	Het
Adamts19	G	T	18: 59,185,654 (GRCm39)	C1176F	probably damaging	Het
Adh7	G	A	3: 137,932,090 (GRCm39)	V235I	probably benign	Het
Aoc1l1	C	T	6: 48,955,471 (GRCm39)	P694S	probably damaging	Het
Caprin2	G	C	6: 148,744,666 (GRCm39)	P701A	probably damaging	Het
Casp7	T	C	19: 56,422,315 (GRCm39)	V110A	possibly damaging	Het
Cd1d2	A	T	3: 86,894,549 (GRCm39)	M106L	probably benign	Het
Cntnap2	C	T	6: 46,506,749 (GRCm39)		probably benign	Het
Cpm	A	G	10: 117,507,638 (GRCm39)	I252V	probably benign	Het
Dnaaf2	A	C	12: 69,239,627 (GRCm39)	I631M	probably damaging	Het
Fads2b	T	G	2: 85,314,538 (GRCm39)		probably null	Het
Fam117b	A	G	1: 60,009,631 (GRCm39)		probably null	Het
Fbxw22	T	C	9: 109,214,064 (GRCm39)	M251V	probably benign	Het
Fignl1	T	C	11: 11,752,011 (GRCm39)		probably null	Het
Foxp1	G	A	6: 98,992,423 (GRCm39)	L156F	probably damaging	Het
H2-M3	T	C	17: 37,583,334 (GRCm39)	F265S	probably damaging	Het
Il1rl1	C	T	1: 40,501,103 (GRCm39)	A493V	probably benign	Het
Iqce	A	G	5: 140,651,895 (GRCm39)	S359P	probably damaging	Het
Kif2b	C	T	11: 91,468,068 (GRCm39)	E72K	probably benign	Het
Luzp1	T	C	4: 136,268,340 (GRCm39)	S188P	probably damaging	Het
Med13l	T	A	5: 118,866,707 (GRCm39)	L587Q	probably damaging	Het
Mocs2	A	G	13: 114,962,692 (GRCm39)		probably null	Het
Mtnr1b	T	C	9: 15,774,459 (GRCm39)	Y200C	probably damaging	Het
Nalcn	C	T	14: 123,702,138 (GRCm39)	V458I	possibly damaging	Het
Nbea	C	T	3: 55,912,719 (GRCm39)	V1023I	probably benign	Het
Nbeal1	T	A	1: 60,331,006 (GRCm39)	V2205D	probably damaging	Het
Nfe2l3	A	G	6: 51,434,226 (GRCm39)	D262G	probably damaging	Het
Nsfl1c	T	C	2: 151,346,085 (GRCm39)	Y169H	probably damaging	Het
Pcdhac1	A	T	18: 37,223,372 (GRCm39)	R62*	probably null	Het
Pcdhga1	A	G	18: 37,796,714 (GRCm39)	T573A	probably benign	Het
Plin4	C	T	17: 56,409,470 (GRCm39)	C1276Y	possibly damaging	Het
Ppp6r1	C	A	7: 4,645,207 (GRCm39)	R220L	possibly damaging	Het
Ptprz1	T	G	6: 23,000,235 (GRCm39)	V775G	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc17a6	A	G	7: 51,275,249 (GRCm39)	T103A	possibly damaging	Het
Spock1	A	T	13: 57,577,217 (GRCm39)	L404Q	probably benign	Het
Stradb	C	A	1: 59,031,903 (GRCm39)	H272N	probably benign	Het
Strn3	A	G	12: 51,680,410 (GRCm39)	S397P	probably benign	Het
Synpo2l	C	T	14: 20,716,198 (GRCm39)	R126H	possibly damaging	Het
Tas2r104	A	G	6: 131,662,236 (GRCm39)	Y158H	probably benign	Het
Tiparp	T	A	3: 65,438,771 (GRCm39)	I29N	possibly damaging	Het
Tnpo1	G	A	13: 98,996,349 (GRCm39)	T484M	probably benign	Het
Tsc22d4	A	G	5: 137,756,805 (GRCm39)	I78V	probably benign	Het
Ugt2b1	T	C	5: 87,067,265 (GRCm39)	Y386C	probably benign	Het
Ugt2b38	A	G	5: 87,571,954 (GRCm39)	V26A	probably damaging	Het
Vmn2r116	G	A	17: 23,620,378 (GRCm39)	C704Y	probably damaging	Het
Vmn2r97	T	A	17: 19,167,442 (GRCm39)	Y565*	probably null	Het
Zfand2b	T	A	1: 75,147,171 (GRCm39)		probably null	Het
Zzef1	C	T	11: 72,712,763 (GRCm39)	Q228*	probably null	Het

Other mutations in Gdap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02424:Gdap1	APN	1	17,231,402 (GRCm39)	missense	probably damaging	1.00
IGL02570:Gdap1	APN	1	17,215,709 (GRCm39)	missense	probably benign	0.27
IGL03269:Gdap1	APN	1	17,231,729 (GRCm39)	missense	probably benign	0.00
R0992:Gdap1	UTSW	1	17,217,329 (GRCm39)	missense	probably damaging	1.00
R1480:Gdap1	UTSW	1	17,215,781 (GRCm39)	missense	probably damaging	1.00
R1518:Gdap1	UTSW	1	17,217,169 (GRCm39)	missense	possibly damaging	0.54
R2061:Gdap1	UTSW	1	17,215,689 (GRCm39)	unclassified	probably benign
R3983:Gdap1	UTSW	1	17,230,131 (GRCm39)	intron	probably benign
R4892:Gdap1	UTSW	1	17,230,218 (GRCm39)	missense	possibly damaging	0.61
R6471:Gdap1	UTSW	1	17,230,249 (GRCm39)	missense	possibly damaging	0.50
R7574:Gdap1	UTSW	1	17,231,665 (GRCm39)	missense	possibly damaging	0.59
R7689:Gdap1	UTSW	1	17,231,623 (GRCm39)	missense	probably damaging	1.00
R7895:Gdap1	UTSW	1	17,231,368 (GRCm39)	missense	probably damaging	1.00
R7937:Gdap1	UTSW	1	17,230,177 (GRCm39)	missense	probably benign	0.15
R9335:Gdap1	UTSW	1	17,231,389 (GRCm39)	missense	probably benign	0.05
R9378:Gdap1	UTSW	1	17,227,353 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGGGGTTTGCAAGACGAAAC -3'
(R):5'- ATGCTCTCTACTAATTGCCAAGGC -3'

Sequencing Primer
(F):5'- TTTGCAAGACGAAACTGGGGAC -3'
(R):5'- CAAGGCTAAATCTTCACTGGGTCTG -3'

Posted On

2016-11-21