Mutagenetix > Incidental Mutation

Incidental Mutation 'R2168:Gdap2'

235596

Institutional Source

Beutler Lab

Gene Symbol

Gdap2

Ensembl Gene

ENSMUSG00000027865

Gene Name

ganglioside-induced differentiation-associated-protein 2

Synonyms

D3Ertd801e

MMRRC Submission

040171-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2168 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100069697-100114297 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 100095199 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 269 (E269A)

Ref Sequence

ENSEMBL: ENSMUSP00000102610 (fasta)

Gene Model

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

AlphaFold

Q9DBL2

Predicted Effect

probably benign
Transcript: ENSMUST00000029459
AA Change: E269A

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

SMART Domains

Protein: ENSMUSP00000029459
Gene: ENSMUSG00000027865
AA Change: E269A

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: E269A

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

SMART Domains

Protein: ENSMUSP00000102610
Gene: ENSMUSG00000027865
AA Change: E269A

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

Meta Mutation Damage Score

0.0822

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	T	A	2: 127,720,701 (GRCm39)	I188N	probably damaging	Het
Akr1c14	T	C	13: 4,131,106 (GRCm39)	V266A	probably damaging	Het
Als2cl	C	A	9: 110,717,810 (GRCm39)	P301H	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Catspere2	C	T	1: 177,843,477 (GRCm39)		probably benign	Het
Cpsf1	A	T	15: 76,487,937 (GRCm39)	N53K	possibly damaging	Het
Ctsll3	C	T	13: 60,948,749 (GRCm39)	G69R	possibly damaging	Het
F2	C	T	2: 91,458,693 (GRCm39)	R539Q	probably damaging	Het
Fam78b	G	A	1: 166,906,219 (GRCm39)	G126D	probably damaging	Het
Fancd2	A	G	6: 113,568,120 (GRCm39)	I1332V	possibly damaging	Het
Flg2	C	T	3: 93,109,244 (GRCm39)	S424L	probably damaging	Het
Fpr1	T	C	17: 18,097,471 (GRCm39)	T173A	possibly damaging	Het
Gas2l3	A	G	10: 89,249,960 (GRCm39)	V386A	probably benign	Het
Igf2bp2	T	A	16: 21,898,358 (GRCm39)		probably null	Het
Ipo11	T	C	13: 107,016,118 (GRCm39)		probably null	Het
Itpr2	G	T	6: 146,013,176 (GRCm39)	P2667Q	probably benign	Het
Itsn2	G	T	12: 4,683,044 (GRCm39)		probably benign	Het
Jakmip2	A	G	18: 43,698,995 (GRCm39)	L488P	probably damaging	Het
Lrp1b	A	T	2: 41,265,858 (GRCm39)	C248S	probably damaging	Het
Lrrc17	A	T	5: 21,780,046 (GRCm39)	D340V	probably damaging	Het
Megf9	T	C	4: 70,351,679 (GRCm39)	T481A	probably damaging	Het
Mrc1	T	C	2: 14,249,015 (GRCm39)	S184P	possibly damaging	Het
Msh4	A	T	3: 153,573,472 (GRCm39)	Y533*	probably null	Het
Mug1	A	G	6: 121,847,458 (GRCm39)	N612S	probably benign	Het
Nectin2	G	T	7: 19,464,539 (GRCm39)	S288R	probably damaging	Het
Neurog2	A	T	3: 127,427,754 (GRCm39)	H126L	probably damaging	Het
Nol10	A	T	12: 17,423,585 (GRCm39)	E310V	probably damaging	Het
Or1f12	T	G	13: 21,721,422 (GRCm39)	K251T	probably damaging	Het
Or4c29	A	G	2: 88,740,522 (GRCm39)	S72P	probably damaging	Het
Or51h7	A	T	7: 102,591,678 (GRCm39)	F35L	probably benign	Het
Or5h23	T	A	16: 58,905,949 (GRCm39)	K299I	probably benign	Het
Pappa	A	C	4: 65,074,682 (GRCm39)	D412A	probably damaging	Het
Pcdhb7	T	A	18: 37,476,335 (GRCm39)	F490L	probably benign	Het
Pcsk1	T	A	13: 75,260,653 (GRCm39)		probably benign	Het
Plekhn1	T	A	4: 156,306,339 (GRCm39)	D577V	probably damaging	Het
Prrc2c	C	A	1: 162,537,903 (GRCm39)		probably benign	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Pzp	G	A	6: 128,465,010 (GRCm39)	T1288M	probably damaging	Het
Radil	A	C	5: 142,492,718 (GRCm39)	H63Q	probably benign	Het
Rai1	T	C	11: 60,078,422 (GRCm39)	S829P	probably benign	Het
Rd3	A	G	1: 191,715,488 (GRCm39)	I88V	probably damaging	Het
Rfesd	T	C	13: 76,156,244 (GRCm39)	D54G	probably damaging	Het
Rnf213	A	C	11: 119,305,896 (GRCm39)	K568T	probably damaging	Het
Scaper	T	A	9: 55,650,923 (GRCm39)	K913N	probably damaging	Het
Serpina3c	T	C	12: 104,115,628 (GRCm39)		probably null	Het
Serpinb6d	A	T	13: 33,850,357 (GRCm39)	K61N	probably benign	Het
Skint4	A	T	4: 111,944,183 (GRCm39)		probably null	Het
Sod1	T	C	16: 90,017,801 (GRCm39)	I19T	possibly damaging	Het
Stfa3	C	A	16: 36,271,042 (GRCm39)	G81*	probably null	Het
Ubr4	A	G	4: 139,137,960 (GRCm39)	T1106A	probably benign	Het
Uggt2	T	A	14: 119,256,917 (GRCm39)	N1106Y	probably damaging	Het
Vmn1r217	G	A	13: 23,298,714 (GRCm39)	Q63*	probably null	Het
Vmn2r129	A	T	4: 156,690,673 (GRCm39)		noncoding transcript	Het
Vps13b	C	A	15: 35,792,334 (GRCm39)	P2201T	probably damaging	Het
Vps13b	C	A	15: 35,792,335 (GRCm39)	P2201Q	probably damaging	Het
Vps13d	G	T	4: 144,813,893 (GRCm39)		probably benign	Het
Zer1	A	G	2: 29,994,887 (GRCm39)	C503R	probably damaging	Het
Zfp369	T	C	13: 65,444,762 (GRCm39)	V635A	probably benign	Het
Zfp608	A	T	18: 55,031,125 (GRCm39)	Y938*	probably null	Het

Other mutations in Gdap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01508:Gdap2	APN	3	100,078,243 (GRCm39)	missense	possibly damaging	0.62
IGL02342:Gdap2	APN	3	100,085,632 (GRCm39)	missense	probably damaging	1.00
IGL02684:Gdap2	APN	3	100,078,336 (GRCm39)	missense	probably benign	0.13
R0128:Gdap2	UTSW	3	100,109,311 (GRCm39)	missense	probably damaging	1.00
R0130:Gdap2	UTSW	3	100,109,311 (GRCm39)	missense	probably damaging	1.00
R0344:Gdap2	UTSW	3	100,085,572 (GRCm39)	missense	probably damaging	1.00
R0588:Gdap2	UTSW	3	100,077,317 (GRCm39)	start codon destroyed	probably null	1.00
R1521:Gdap2	UTSW	3	100,101,931 (GRCm39)	missense	possibly damaging	0.61
R3040:Gdap2	UTSW	3	100,095,351 (GRCm39)	critical splice donor site	probably null
R4793:Gdap2	UTSW	3	100,078,234 (GRCm39)	missense	probably damaging	1.00
R5406:Gdap2	UTSW	3	100,098,991 (GRCm39)	missense	probably damaging	1.00
R5438:Gdap2	UTSW	3	100,085,629 (GRCm39)	missense	probably damaging	1.00
R5987:Gdap2	UTSW	3	100,109,572 (GRCm39)	intron	probably benign
R6816:Gdap2	UTSW	3	100,099,021 (GRCm39)	critical splice donor site	probably null
R7307:Gdap2	UTSW	3	100,109,349 (GRCm39)	missense	unknown
R7424:Gdap2	UTSW	3	100,109,382 (GRCm39)	missense	unknown
R7673:Gdap2	UTSW	3	100,099,015 (GRCm39)	missense	probably benign	0.01
R8221:Gdap2	UTSW	3	100,109,611 (GRCm39)	missense	unknown
R9414:Gdap2	UTSW	3	100,090,071 (GRCm39)	critical splice donor site	probably null
R9562:Gdap2	UTSW	3	100,099,006 (GRCm39)	missense	possibly damaging	0.74
R9599:Gdap2	UTSW	3	100,078,264 (GRCm39)	missense	probably damaging	1.00
R9691:Gdap2	UTSW	3	100,109,441 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TCATGAACCTCTTGGATGGAGAC -3'
(R):5'- CCATCTAACTGTGGAACAAGCC -3'

Sequencing Primer
(F):5'- AACCTCTTGGATGGAGACTTGCC -3'
(R):5'- ACTGTGGAACAAGCCTGTCTTAC -3'

Posted On

2014-10-01