Mutagenetix > Incidental Mutations

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2168 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100162381-100206981 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 100187883 bp (GRCm38)

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: 127,878,781	I188N	probably damaging	Het
Akr1c14	T	C	13: 4,081,106	V266A	probably damaging	Het
Als2cl	C	A	9: 110,888,742	P301H	probably damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Cpsf1	A	T	15: 76,603,737	N53K	possibly damaging	Het
Ctsll3	C	T	13: 60,800,935	G69R	possibly damaging	Het
F2	C	T	2: 91,628,348	R539Q	probably damaging	Het
Fam78b	G	A	1: 167,078,650	G126D	probably damaging	Het
Fancd2	A	G	6: 113,591,159	I1332V	possibly damaging	Het
Flg2	C	T	3: 93,201,937	S424L	probably damaging	Het
Fpr1	T	C	17: 17,877,209	T173A	possibly damaging	Het
Gas2l3	A	G	10: 89,414,098	V386A	probably benign	Het
Gm16432	C	T	1: 178,015,911		probably benign	Het
Igf2bp2	T	A	16: 22,079,608		probably null	Het
Ipo11	T	C	13: 106,879,610		probably null	Het
Itpr2	G	T	6: 146,111,678	P2667Q	probably benign	Het
Itsn2	G	T	12: 4,633,044		probably benign	Het
Jakmip2	A	G	18: 43,565,930	L488P	probably damaging	Het
Lrp1b	A	T	2: 41,375,846	C248S	probably damaging	Het
Lrrc17	A	T	5: 21,575,048	D340V	probably damaging	Het
Megf9	T	C	4: 70,433,442	T481A	probably damaging	Het
Mrc1	T	C	2: 14,244,204	S184P	possibly damaging	Het
Msh4	A	T	3: 153,867,835	Y533*	probably null	Het
Mug1	A	G	6: 121,870,499	N612S	probably benign	Het
Nectin2	G	T	7: 19,730,614	S288R	probably damaging	Het
Neurog2	A	T	3: 127,634,105	H126L	probably damaging	Het
Nol10	A	T	12: 17,373,584	E310V	probably damaging	Het
Olfr1209	A	G	2: 88,910,178	S72P	probably damaging	Het
Olfr1366	T	G	13: 21,537,252	K251T	probably damaging	Het
Olfr191	T	A	16: 59,085,586	K299I	probably benign	Het
Olfr573-ps1	A	T	7: 102,942,471	F35L	probably benign	Het
Pappa	A	C	4: 65,156,445	D412A	probably damaging	Het
Pcdhb7	T	A	18: 37,343,282	F490L	probably benign	Het
Pcsk1	T	A	13: 75,112,534		probably benign	Het
Plekhn1	T	A	4: 156,221,882	D577V	probably damaging	Het
Prrc2c	C	A	1: 162,710,334		probably benign	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Pzp	G	A	6: 128,488,047	T1288M	probably damaging	Het
Radil	A	C	5: 142,506,963	H63Q	probably benign	Het
Rai1	T	C	11: 60,187,596	S829P	probably benign	Het
Rd3	A	G	1: 191,983,527	I88V	probably damaging	Het
Rfesd	T	C	13: 76,008,125	D54G	probably damaging	Het
Rnf213	A	C	11: 119,415,070	K568T	probably damaging	Het
Scaper	T	A	9: 55,743,639	K913N	probably damaging	Het
Serpina3c	T	C	12: 104,149,369		probably null	Het
Serpinb6d	A	T	13: 33,666,374	K61N	probably benign	Het
Skint4	A	T	4: 112,086,986		probably null	Het
Sod1	T	C	16: 90,220,913	I19T	possibly damaging	Het
Stfa3	C	A	16: 36,450,680	G81*	probably null	Het
Ubr4	A	G	4: 139,410,649	T1106A	probably benign	Het
Uggt2	T	A	14: 119,019,505	N1106Y	probably damaging	Het
Vmn1r217	G	A	13: 23,114,544	Q63*	probably null	Het
Vmn2r-ps159	A	T	4: 156,338,378		noncoding transcript	Het
Vps13b	C	A	15: 35,792,188	P2201T	probably damaging	Het
Vps13b	C	A	15: 35,792,189	P2201Q	probably damaging	Het
Vps13d	G	T	4: 145,087,323		probably benign	Het
Zer1	A	G	2: 30,104,875	C503R	probably damaging	Het
Zfp369	T	C	13: 65,296,948	V635A	probably benign	Het
Zfp608	A	T	18: 54,898,053	Y938*	probably null	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
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
R9414:Gdap2	UTSW	3	100182755	critical splice donor site	probably null

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