Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03161:Gabarapl2'

411429

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gabarapl2

Ensembl Gene

ENSMUSG00000031950

Gene Name

GABA type A receptor associated protein like 2

Synonyms

Gef2, GATE-16, 2900019O08Rik, 0610012F20Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03161

Quality Score

Status

Chromosome

Chromosomal Location

112667335-112679547 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 112669168 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 42 (V42D)

Ref Sequence

ENSEMBL: ENSMUSP00000034428 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034428]

AlphaFold

P60521

Predicted Effect

probably benign
Transcript: ENSMUST00000034428
AA Change: V42D

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000034428
Gene: ENSMUSG00000031950
AA Change: V42D

Domain	Start	End	E-Value	Type
Pfam:Atg8	13	116	6.1e-53	PFAM
Pfam:APG12	28	116	7.8e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130808

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133628

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579G24Rik	T	C	3: 79,536,493 (GRCm39)		probably benign	Het
Abtb2	G	T	2: 103,397,799 (GRCm39)	R243L	probably benign	Het
Adamts12	A	G	15: 11,292,168 (GRCm39)	E871G	possibly damaging	Het
Ascc3	A	T	10: 50,494,168 (GRCm39)	N201I	probably damaging	Het
Aste1	A	T	9: 105,273,871 (GRCm39)	H37L	probably damaging	Het
Atp1a2	T	A	1: 172,106,429 (GRCm39)		probably benign	Het
Cand2	C	A	6: 115,769,698 (GRCm39)	T836K	probably benign	Het
Dnah7c	G	A	1: 46,506,456 (GRCm39)	A178T	probably benign	Het
Dnm2	A	G	9: 21,397,020 (GRCm39)		probably benign	Het
Dock3	T	C	9: 106,900,987 (GRCm39)	D326G	probably damaging	Het
Fignl1	A	C	11: 11,752,680 (GRCm39)	M125R	probably benign	Het
Hivep2	T	C	10: 14,019,100 (GRCm39)	V1957A	probably damaging	Het
Hps1	T	C	19: 42,755,710 (GRCm39)	E172G	probably damaging	Het
Il16	T	C	7: 83,371,707 (GRCm39)	D33G	probably damaging	Het
Lamb1	A	G	12: 31,376,255 (GRCm39)	N1542D	probably benign	Het
Mllt6	T	C	11: 97,557,977 (GRCm39)	Y179H	probably benign	Het
Muc4	T	C	16: 32,570,766 (GRCm39)	S609P	possibly damaging	Het
Nacad	G	A	11: 6,550,378 (GRCm39)	Q938*	probably null	Het
Odad3	A	G	9: 21,913,611 (GRCm39)	S54P	probably benign	Het
Or4k45	T	C	2: 111,395,676 (GRCm39)	I38V	possibly damaging	Het
Or4p22	G	A	2: 88,317,792 (GRCm39)	A239T	probably benign	Het
Pik3c3	C	T	18: 30,426,760 (GRCm39)	T292I	probably benign	Het
Prss3b	A	T	6: 41,011,240 (GRCm39)	H47Q	probably damaging	Het
Slit3	T	C	11: 35,591,241 (GRCm39)	V1351A	probably benign	Het
Spg7	T	C	8: 123,814,070 (GRCm39)	M443T	probably damaging	Het
Spmip9	T	C	6: 70,890,519 (GRCm39)	E91G	probably benign	Het
Tcof1	A	G	18: 60,966,560 (GRCm39)	S344P	possibly damaging	Het
Tm4sf5	T	A	11: 70,401,098 (GRCm39)	S105T	probably benign	Het
Tmem119	A	G	5: 113,932,961 (GRCm39)	V280A	possibly damaging	Het
Trbv20	A	T	6: 41,165,757 (GRCm39)	I61L	probably benign	Het
Trip12	T	C	1: 84,738,853 (GRCm39)		probably benign	Het
Vmn1r32	T	A	6: 66,530,204 (GRCm39)	M191L	possibly damaging	Het
Vta1	A	T	10: 14,543,716 (GRCm39)	H219Q	possibly damaging	Het

Other mutations in Gabarapl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02090:Gabarapl2	APN	8	112,667,831 (GRCm39)	missense	probably damaging	1.00
IGL03162:Gabarapl2	APN	8	112,669,168 (GRCm39)	missense	probably benign	0.11
R0743:Gabarapl2	UTSW	8	112,669,137 (GRCm39)	missense	probably damaging	0.99
R0884:Gabarapl2	UTSW	8	112,669,137 (GRCm39)	missense	probably damaging	0.99
R3916:Gabarapl2	UTSW	8	112,679,028 (GRCm39)	missense	probably benign	0.05
R3917:Gabarapl2	UTSW	8	112,679,028 (GRCm39)	missense	probably benign	0.05
R4646:Gabarapl2	UTSW	8	112,669,185 (GRCm39)	missense	probably damaging	0.97
R4685:Gabarapl2	UTSW	8	112,669,150 (GRCm39)	missense	probably benign	0.01
R5289:Gabarapl2	UTSW	8	112,669,227 (GRCm39)	missense	probably damaging	0.99
R6939:Gabarapl2	UTSW	8	112,669,201 (GRCm39)	nonsense	probably null

Posted On

2016-08-02