Mutagenetix > Incidental Mutation

Incidental Mutation 'R9414:Gdap2'

711928

Institutional Source

Beutler Lab

Gene Symbol

Gdap2

Ensembl Gene

ENSMUSG00000027865

Gene Name

ganglioside-induced differentiation-associated-protein 2

Synonyms

D3Ertd801e

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9414 (G1)

Quality Score

223.009

Status

Validated

Chromosome

Chromosomal Location

100162381-100206981 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 100182755 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000029459 (fasta)

Gene Model

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

AlphaFold

Q9DBL2

Predicted Effect

probably null
Transcript: ENSMUST00000029459

SMART Domains

Protein: ENSMUSP00000029459
Gene: ENSMUSG00000027865

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

SMART Domains

Protein: ENSMUSP00000102610
Gene: ENSMUSG00000027865

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

0.9503

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.7%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	T	11: 110,144,274	I689K	probably damaging	Het
Agtpbp1	G	T	13: 59,462,088	T1076K	probably damaging	Het
Ammecr1l	A	G	18: 31,771,909	T68A	probably benign	Het
Arvcf	A	G	16: 18,397,715	E264G	probably damaging	Het
Cacna1b	C	T	2: 24,648,502	D1542N	probably damaging	Het
Cacna2d2	A	G	9: 107,515,196	T512A	probably damaging	Het
Crebbp	A	G	16: 4,107,492	C1213R	probably damaging	Het
Cybrd1	G	T	2: 71,118,223	R35L	probably damaging	Het
Dcaf1	G	A	9: 106,879,959	W1412*	probably null	Het
Eif4e	T	A	3: 138,547,734	D67E	probably benign	Het
Epb41	G	A	4: 131,974,851	T491I	probably damaging	Het
Fez1	G	A	9: 36,867,951	S308N	probably benign	Het
Fgfr3	A	G	5: 33,729,954	S206G	possibly damaging	Het
Flcn	A	T	11: 59,794,172	N484K	possibly damaging	Het
Gfpt1	T	A	6: 87,085,283	D541E	probably benign	Het
Gm38394	T	C	1: 133,657,277	D774G	probably damaging	Het
Gm5089	A	G	14: 122,436,192	F39S	unknown	Het
Gm7694	C	T	1: 170,302,604	G75D	probably benign	Het
Gpr15	A	G	16: 58,718,153	L191S	probably benign	Het
Hmcn1	T	G	1: 150,669,436	T2807P	probably damaging	Het
Iqgap2	T	C	13: 95,646,841	T1276A		Het
Itgae	G	T	11: 73,111,803	A129S	possibly damaging	Het
Kcns1	T	C	2: 164,168,458	E127G	probably damaging	Het
Kmt2b	T	C	7: 30,582,882	E1118G	probably damaging	Het
Lair1	T	C	7: 4,010,820	I143V	probably benign	Het
Lcmt2	T	C	2: 121,140,140	D154G	possibly damaging	Het
Ly9	T	C	1: 171,599,707	T427A	probably damaging	Het
Man2c1	A	G	9: 57,136,746	T281A	possibly damaging	Het
Map4k2	T	C	19: 6,344,485	F332L	probably benign	Het
Mmp10	A	T	9: 7,502,488	D32V	probably benign	Het
Mroh2a	C	T	1: 88,251,374	R1110W	probably benign	Het
Naip2	T	A	13: 100,161,735	S598C	probably damaging	Het
Npnt	T	C	3: 132,906,355	N300S	probably benign	Het
Olfr1443	T	C	19: 12,680,348	V80A	probably benign	Het
Olfr178	G	A	16: 58,890,202	T6I	probably benign	Het
Olfr53	C	A	7: 140,652,350	R124S	probably damaging	Het
Pacsin1	T	C	17: 27,708,011	V387A	probably damaging	Het
Pald1	G	T	10: 61,343,153	A489E	probably benign	Het
Pcnx	G	T	12: 81,918,204	G382W	probably damaging	Het
Pde6b	T	A	5: 108,419,726	M294K	possibly damaging	Het
Phf20	T	C	2: 156,294,247	V662A	probably benign	Het
Plcg1	T	C	2: 160,761,356	I1149T	possibly damaging	Het
Prdx2	T	C	8: 84,970,567	S79P	probably damaging	Het
Rab19	T	C	6: 39,383,921	M1T	probably null	Het
Retn	T	G	8: 3,656,908	F44C	probably damaging	Het
Rp1	A	T	1: 4,243,618	W507R	unknown	Het
Rsf1	A	C	7: 97,664,558		probably null	Het
Ryr3	C	T	2: 112,670,666	E3561K	possibly damaging	Het
Scaf1	T	A	7: 45,003,292	Y1220F	unknown	Het
Sowahc	A	G	10: 59,222,669	K209R	probably benign	Het
Supt20	T	A	3: 54,703,083	I103N	probably damaging	Het
Tenm4	A	G	7: 96,896,160	E2498G	probably benign	Het
Tet1	T	C	10: 62,839,156	N1047S	probably benign	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,160,856		probably null	Het
Tldc1	A	T	8: 119,768,342	S226T	probably benign	Het
Tub	T	A	7: 109,027,058	I267N	probably damaging	Het
Uggt1	T	C	1: 36,184,426	E594G	probably benign	Het
Vmn2r104	T	A	17: 20,029,988	I674F	probably damaging	Het
Zcchc4	T	C	5: 52,796,622	S215P	probably benign	Het
Zfc3h1	T	G	10: 115,414,011	S1177A	possibly damaging	Het
Zfp646	G	A	7: 127,881,878	A1076T	probably damaging	Het
Zfp735	T	A	11: 73,711,197	Y322*	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
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
R9562:Gdap2	UTSW	3	100191690	missense	possibly damaging	0.74
R9599:Gdap2	UTSW	3	100170948	missense	probably damaging	1.00
R9691:Gdap2	UTSW	3	100202125	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TGGGTAATTGAGCAGAGCC -3'
(R):5'- TGGACTTGGCAACCAGTACAG -3'

Sequencing Primer
(F):5'- TGGGTAATTGAGCAGAGCCTGATG -3'
(R):5'- ACCAGTACAGCGTGGTTTAC -3'

Posted On

2022-05-16