Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02090:Gabarapl2'

279434

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 #

IGL02090

Quality Score

Status

Chromosome

Chromosomal Location

112667335-112679547 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 112667831 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 25 (Y25C)

Ref Sequence

ENSEMBL: ENSMUSP00000034428 (fasta)

Gene Model

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

AlphaFold

P60521

Predicted Effect

probably damaging
Transcript: ENSMUST00000034428
AA Change: Y25C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034428
Gene: ENSMUSG00000031950
AA Change: Y25C

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace2	A	G	X: 162,968,701 (GRCm39)	T482A	probably damaging	Het
Adh1	T	C	3: 137,988,546 (GRCm39)	I173T	possibly damaging	Het
Apoa1	T	C	9: 46,140,548 (GRCm39)	S60P	possibly damaging	Het
Blnk	A	G	19: 40,922,929 (GRCm39)	V396A	probably benign	Het
Borcs8	A	G	8: 70,619,030 (GRCm39)	D204G	probably damaging	Het
Calhm5	G	A	10: 33,972,261 (GRCm39)	P58L	probably damaging	Het
Cbfa2t2	A	G	2: 154,373,336 (GRCm39)		probably benign	Het
Cdkal1	T	G	13: 29,701,493 (GRCm39)	I319L	probably benign	Het
Celsr1	T	A	15: 85,791,922 (GRCm39)	T2560S	possibly damaging	Het
Chd8	A	G	14: 52,464,691 (GRCm39)		probably null	Het
Cyp4f39	T	C	17: 32,689,932 (GRCm39)		probably benign	Het
Dnah10	A	G	5: 124,866,876 (GRCm39)	N2265S	probably damaging	Het
Dnah5	C	T	15: 28,240,187 (GRCm39)		probably benign	Het
Epgn	G	A	5: 91,181,816 (GRCm39)	G133E	probably damaging	Het
Fdx2	C	A	9: 20,984,766 (GRCm39)	V13F	probably benign	Het
Gigyf1	G	A	5: 137,523,826 (GRCm39)		probably null	Het
Gm6040	G	A	8: 21,407,169 (GRCm39)		probably benign	Het
Gm8229	T	C	14: 44,604,054 (GRCm39)	L81P	unknown	Het
Gstz1	A	G	12: 87,210,528 (GRCm39)	E137G	probably benign	Het
Htra1	T	C	7: 130,538,108 (GRCm39)	V36A	probably benign	Het
Ifnlr1	T	C	4: 135,432,578 (GRCm39)	V338A	probably benign	Het
Igsf8	A	G	1: 172,140,156 (GRCm39)		probably benign	Het
Khdc1a	T	A	1: 21,421,212 (GRCm39)	F132L	probably benign	Het
Kifc3	G	A	8: 95,829,108 (GRCm39)	S561L	probably damaging	Het
Mpi	T	C	9: 57,457,936 (GRCm39)	T89A	probably benign	Het
Ncor2	A	T	5: 125,111,467 (GRCm39)	M1281K	probably damaging	Het
Or4c117	T	C	2: 88,956,021 (GRCm39)	N18S	probably benign	Het
Or4k49	G	T	2: 111,495,333 (GRCm39)	C254F	probably damaging	Het
Or6c213	T	A	10: 129,574,181 (GRCm39)	I202L	probably benign	Het
Or6c66b	T	C	10: 129,377,176 (GRCm39)	Y257H	probably damaging	Het
Otog	G	A	7: 45,949,571 (GRCm39)	G2403D	probably damaging	Het
Pdgfb	C	A	15: 79,898,184 (GRCm39)	A6S	probably benign	Het
Pfkm	T	C	15: 98,021,121 (GRCm39)		probably null	Het
Plcb4	A	G	2: 135,789,041 (GRCm39)	M274V	probably benign	Het
Ppm1m	A	G	9: 106,074,001 (GRCm39)		probably null	Het
Rptn	A	G	3: 93,304,041 (GRCm39)	D458G	possibly damaging	Het
Sertad3	C	T	7: 27,175,950 (GRCm39)	S128F	probably benign	Het
Sgo2b	A	T	8: 64,380,123 (GRCm39)	L903Q	probably damaging	Het
Slc15a5	C	T	6: 138,020,598 (GRCm39)	R245H	probably benign	Het
Slc24a5	A	T	2: 124,910,218 (GRCm39)	T40S	probably benign	Het
Smchd1	T	C	17: 71,738,248 (GRCm39)	N539S	possibly damaging	Het
Tlr11	A	G	14: 50,600,489 (GRCm39)	D825G	probably damaging	Het
Top3b	T	G	16: 16,709,334 (GRCm39)	V674G	possibly damaging	Het
Urb2	G	A	8: 124,754,976 (GRCm39)	V228I	probably benign	Het
Usp24	C	T	4: 106,268,623 (GRCm39)	A2061V	possibly damaging	Het
Wdr72	C	A	9: 74,062,212 (GRCm39)	H453N	possibly damaging	Het
Xkr9	T	C	1: 13,771,600 (GRCm39)	M372T	probably damaging	Het
Zc3h12d	T	G	10: 7,743,096 (GRCm39)	S289A	probably benign	Het
Zfp607b	A	T	7: 27,398,140 (GRCm39)	M75L	possibly damaging	Het

Other mutations in Gabarapl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03161:Gabarapl2	APN	8	112,669,168 (GRCm39)	missense	probably benign	0.11
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

2015-04-16