Mutagenetix > Incidental Mutation

Incidental Mutation 'R2061:Gdap1'

316198

Institutional Source

Beutler Lab

Gene Symbol

Gdap1

Ensembl Gene

ENSMUSG00000025777

Gene Name

ganglioside-induced differentiation-associated-protein 1

Synonyms

MMRRC Submission

040066-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2061 (G1)

Quality Score

124

Status

Validated

Chromosome

Chromosomal Location

17215586-17234495 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 17215689 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140406 (fasta)

Gene Model

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

AlphaFold

O88741

Predicted Effect

probably benign
Transcript: ENSMUST00000026879

SMART Domains

Protein: ENSMUSP00000026879
Gene: ENSMUSG00000025777

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

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: 97.5%
20x: 95.9%

Validation Efficiency

99% (124/125)

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: 122 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	T	C	9: 99,502,412 (GRCm39)	S191P	probably damaging	Het
Ak2	C	T	4: 128,901,990 (GRCm39)	A221V	probably damaging	Het
Akap9	T	A	5: 4,011,010 (GRCm39)	V571E	probably damaging	Het
Amph	G	T	13: 19,309,205 (GRCm39)	E428*	probably null	Het
Armh3	C	T	19: 45,967,106 (GRCm39)	R12Q	probably damaging	Het
Arnt2	T	A	7: 83,993,078 (GRCm39)	D154V	probably damaging	Het
Arrdc1	G	A	2: 24,816,364 (GRCm39)	Q202*	probably null	Het
Ate1	A	G	7: 130,112,643 (GRCm39)	C72R	probably damaging	Het
Atox1	A	G	11: 55,345,724 (GRCm39)	V22A	possibly damaging	Het
Bbs12	A	T	3: 37,373,215 (GRCm39)	M3L	probably damaging	Het
Bfsp1	A	G	2: 143,704,598 (GRCm39)	V85A	probably benign	Het
Bltp2	T	A	11: 78,159,575 (GRCm39)	C541*	probably null	Het
Caskin2	C	A	11: 115,694,456 (GRCm39)	V382F	probably benign	Het
Ccdc39	T	A	3: 33,874,045 (GRCm39)	M596L	probably damaging	Het
Cd22	C	T	7: 30,569,530 (GRCm39)	V529M	probably damaging	Het
Cd22	A	C	7: 30,575,581 (GRCm39)	Y154D	probably benign	Het
Cdadc1	T	A	14: 59,818,783 (GRCm39)	E348D	probably damaging	Het
Cdhr2	T	C	13: 54,868,631 (GRCm39)	V531A	probably damaging	Het
Cdk11b	A	G	4: 155,726,061 (GRCm39)		probably benign	Het
Cebpa	G	T	7: 34,818,947 (GRCm39)	R35L	probably damaging	Het
Chat	T	C	14: 32,168,830 (GRCm39)	N235S	probably benign	Het
Col12a1	T	A	9: 79,524,987 (GRCm39)	I2725F	possibly damaging	Het
Cracr2b	A	G	7: 141,045,193 (GRCm39)	E231G	probably damaging	Het
Cryaa	G	T	17: 31,900,029 (GRCm39)	A151S	probably benign	Het
Cspg4b	T	A	13: 113,454,628 (GRCm39)	W225R	probably damaging	Het
Dab1	A	T	4: 104,535,938 (GRCm39)	I116F	probably damaging	Het
Ddx43	C	A	9: 78,303,386 (GRCm39)	N75K	probably benign	Het
Dmbt1	T	G	7: 130,700,863 (GRCm39)	C1014G	possibly damaging	Het
Dner	C	A	1: 84,383,710 (GRCm39)	C558F	probably damaging	Het
Dsc2	A	G	18: 20,165,456 (GRCm39)	V839A	possibly damaging	Het
Dsg3	C	T	18: 20,660,794 (GRCm39)	R378*	probably null	Het
Ecpas	G	T	4: 58,824,270 (GRCm39)	P1116T	probably damaging	Het
Emilin1	C	T	5: 31,075,082 (GRCm39)	P441L	possibly damaging	Het
Epha6	T	C	16: 59,476,160 (GRCm39)	M1069V	probably damaging	Het
F930017D23Rik	A	C	10: 43,480,416 (GRCm39)		noncoding transcript	Het
Faf1	A	T	4: 109,568,005 (GRCm39)	N22Y	probably damaging	Het
Flrt3	A	T	2: 140,503,373 (GRCm39)	V85E	probably damaging	Het
Gadl1	T	A	9: 115,770,448 (GRCm39)	I87N	probably damaging	Het
Galnt14	A	G	17: 73,819,148 (GRCm39)	F314S	probably damaging	Het
Gba2	A	T	4: 43,574,029 (GRCm39)	Y141*	probably null	Het
Gfod1	A	T	13: 43,456,719 (GRCm39)		probably null	Het
Gm14295	C	T	2: 176,502,474 (GRCm39)	R655*	probably null	Het
Gm4353	A	G	7: 115,682,934 (GRCm39)	S216P	probably damaging	Het
Gm6605	T	A	7: 38,147,706 (GRCm39)		noncoding transcript	Het
Hectd1	A	T	12: 51,841,227 (GRCm39)	D634E	probably damaging	Het
Helz2	A	G	2: 180,882,337 (GRCm39)	I152T	probably damaging	Het
Hivep1	A	G	13: 42,313,600 (GRCm39)	K1947E	possibly damaging	Het
Ifrd1	A	T	12: 40,263,244 (GRCm39)	F144L	probably benign	Het
Inhca	T	C	9: 103,145,513 (GRCm39)	M395V	probably benign	Het
Itgae	A	T	11: 73,009,448 (GRCm39)	Q544L	probably benign	Het
Jmjd1c	A	T	10: 67,054,205 (GRCm39)	E323D	probably damaging	Het
Kdm5a	G	T	6: 120,358,578 (GRCm39)	R207L	probably benign	Het
Kif5b	C	T	18: 6,226,377 (GRCm39)		probably null	Het
Lbp	T	C	2: 158,166,499 (GRCm39)	V351A	probably benign	Het
Lss	A	T	10: 76,381,932 (GRCm39)		probably null	Het
Madd	A	C	2: 90,991,831 (GRCm39)		probably benign	Het
Map6	G	A	7: 98,966,679 (GRCm39)	V503I	probably damaging	Het
Mark1	A	G	1: 184,660,260 (GRCm39)	L22P	probably damaging	Het
Mcfd2	T	C	17: 87,563,404 (GRCm39)	N130D	probably damaging	Het
Mcm3ap	A	G	10: 76,305,902 (GRCm39)	N5S	probably benign	Het
Mdm4	A	T	1: 132,940,389 (GRCm39)	F48I	probably damaging	Het
Mga	A	T	2: 119,795,461 (GRCm39)		probably benign	Het
Mknk2	A	T	10: 80,507,391 (GRCm39)		probably null	Het
Mmp15	T	C	8: 96,097,407 (GRCm39)	Y459H	possibly damaging	Het
Mthfd1l	A	G	10: 4,053,288 (GRCm39)	K879R	probably benign	Het
Mycbp2	T	C	14: 103,524,696 (GRCm39)	K655E	probably damaging	Het
Nasp	T	C	4: 116,468,323 (GRCm39)	N221D	probably benign	Het
Ndc80	T	C	17: 71,821,213 (GRCm39)	E245G	probably benign	Het
Nmral1	C	T	16: 4,534,193 (GRCm39)	E83K	probably damaging	Het
Noa1	T	A	5: 77,452,034 (GRCm39)	Q550L	possibly damaging	Het
Nutm1	A	T	2: 112,086,097 (GRCm39)	Y211*	probably null	Het
Or10n1	G	T	9: 39,525,071 (GRCm39)	M69I	probably benign	Het
Or10v1	T	A	19: 11,873,921 (GRCm39)	Y179N	probably damaging	Het
Or2ag18	A	C	7: 106,404,975 (GRCm39)	H231Q	probably benign	Het
Or4l1	T	C	14: 50,166,478 (GRCm39)	I174M	possibly damaging	Het
Or5b118	A	G	19: 13,448,605 (GRCm39)	I90M	probably damaging	Het
Otoa	T	C	7: 120,730,551 (GRCm39)	F584L	probably damaging	Het
Palb2	G	A	7: 121,723,748 (GRCm39)	T304I	possibly damaging	Het
Pcolce2	A	T	9: 95,552,229 (GRCm39)	M121L	probably benign	Het
Pcsk5	T	C	19: 17,432,236 (GRCm39)	T1460A	probably benign	Het
Pdzrn4	A	T	15: 92,668,041 (GRCm39)	D731V	probably damaging	Het
Pex11b	C	A	3: 96,543,037 (GRCm39)	Q12K	possibly damaging	Het
Pigw	G	C	11: 84,768,136 (GRCm39)	Q398E	probably benign	Het
Pkd1	A	G	17: 24,788,888 (GRCm39)	E882G	possibly damaging	Het
Pkhd1	A	T	1: 20,683,036 (GRCm39)	N55K	possibly damaging	Het
Plch2	A	T	4: 155,127,298 (GRCm39)		probably benign	Het
Plcl1	T	A	1: 55,790,504 (GRCm39)	L1058Q	probably benign	Het
Ppfia2	T	C	10: 106,673,190 (GRCm39)	S511P	possibly damaging	Het
Ppfibp2	T	C	7: 107,338,437 (GRCm39)	L676P	probably damaging	Het
Ppp6c	T	G	2: 39,116,186 (GRCm39)	D23A	probably damaging	Het
Prss30	G	A	17: 24,193,642 (GRCm39)		probably benign	Het
Ptprz1	T	C	6: 23,049,674 (GRCm39)		probably null	Het
Rec114	T	A	9: 58,560,188 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,680,764 (GRCm39)		probably null	Het
Ryr3	A	T	2: 112,493,349 (GRCm39)	I3715N	possibly damaging	Het
Scin	T	C	12: 40,130,947 (GRCm39)	Y322C	probably damaging	Het
Scn3a	A	G	2: 65,291,652 (GRCm39)	V1698A	probably damaging	Het
Scn5a	G	A	9: 119,314,717 (GRCm39)	S1996L	probably damaging	Het
Serpinb2	A	G	1: 107,450,525 (GRCm39)	K174R	possibly damaging	Het
Slc16a4	T	C	3: 107,208,027 (GRCm39)	I179T	probably benign	Het
Slc35b1	T	G	11: 95,276,718 (GRCm39)	F102V	possibly damaging	Het
Slc66a2	G	T	18: 80,334,930 (GRCm39)	A232S	probably benign	Het
Slc6a15	A	G	10: 103,245,595 (GRCm39)	D526G	probably benign	Het
Spata16	A	G	3: 26,978,519 (GRCm39)	D495G	probably damaging	Het
Stk11ip	G	A	1: 75,506,228 (GRCm39)	E583K	possibly damaging	Het
Stk-ps1	T	G	17: 36,709,044 (GRCm39)		noncoding transcript	Het
Sufu	T	A	19: 46,385,651 (GRCm39)	I37N	probably damaging	Het
Tacr1	C	T	6: 82,469,535 (GRCm39)	P140S	probably damaging	Het
Tas1r3	G	A	4: 155,944,927 (GRCm39)	R765C	probably damaging	Het
Tenm3	C	T	8: 48,795,291 (GRCm39)		probably null	Het
Tex36	A	T	7: 133,196,952 (GRCm39)	I55N	probably damaging	Het
Tmem150c	T	C	5: 100,227,887 (GRCm39)	Y192C	probably damaging	Het
Tmem237	A	G	1: 59,159,445 (GRCm39)		probably benign	Het
Trim11	A	G	11: 58,872,889 (GRCm39)	E191G	probably damaging	Het
Ttll3	C	T	6: 113,386,003 (GRCm39)	A612V	possibly damaging	Het
Ttn	G	A	2: 76,807,466 (GRCm39)	A89V	probably damaging	Het
Usp37	A	G	1: 74,507,431 (GRCm39)	F529L	probably damaging	Het
Vmn1r217	A	C	13: 23,298,698 (GRCm39)	V68G	probably benign	Het
Vwf	T	C	6: 125,568,151 (GRCm39)	S349P	probably damaging	Het
Wt1	G	A	2: 104,961,502 (GRCm39)		probably null	Het
Zcchc7	T	A	4: 44,895,838 (GRCm39)	L262H	probably damaging	Het
Zfp873	A	G	10: 81,895,991 (GRCm39)	S241G	probably benign	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
R3983:Gdap1	UTSW	1	17,230,131 (GRCm39)	intron	probably benign
R4892:Gdap1	UTSW	1	17,230,218 (GRCm39)	missense	possibly damaging	0.61
R5765:Gdap1	UTSW	1	17,231,650 (GRCm39)	missense	probably benign
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'- ATGATCTCTTAAGGGCCTCAGC -3'
(R):5'- ACCCCAGTTCTGAATGCAC -3'

Sequencing Primer
(F):5'- CCGACTAGGCAGCACAGC -3'
(R):5'- AGTTCTGAATGCACCCCCG -3'

Posted On

2015-05-15