Mutagenetix > Incidental Mutation

Incidental Mutation 'R5289:Gabarapl2'

424600

Institutional Source

Beutler Lab

Gene Symbol

Gabarapl2

Ensembl Gene

ENSMUSG00000031950

Gene Name

GABA type A receptor associated protein like 2

Synonyms

Gef2, GATE-16, 2900019O08Rik, 0610012F20Rik

MMRRC Submission

042872-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5289 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

112667335-112679547 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 112669227 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 62 (W62R)

Ref Sequence

ENSEMBL: ENSMUSP00000034428 (fasta)

Gene Model

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

AlphaFold

P60521

Predicted Effect

probably damaging
Transcript: ENSMUST00000034428
AA Change: W62R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034428
Gene: ENSMUSG00000031950
AA Change: W62R

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

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,669,203 (GRCm39)	V1731A	probably benign	Het
Ahcyl1	A	G	3: 107,577,206 (GRCm39)		probably null	Het
Aox1	T	A	1: 58,131,717 (GRCm39)	M1042K	probably damaging	Het
Atp10d	C	A	5: 72,412,466 (GRCm39)	Q590K	probably benign	Het
Atp8b1	G	T	18: 64,679,158 (GRCm39)	N774K	possibly damaging	Het
Atrnl1	C	T	19: 57,645,514 (GRCm39)	T458M	probably damaging	Het
Bltp1	C	A	3: 37,054,258 (GRCm39)	Q3126K	probably damaging	Het
Cnr1	T	A	4: 33,943,910 (GRCm39)	C99*	probably null	Het
Cnr2	A	G	4: 135,644,318 (GRCm39)	Y132C	probably damaging	Het
Commd9	C	T	2: 101,729,239 (GRCm39)	A115V	probably benign	Het
Diaph3	A	G	14: 87,219,114 (GRCm39)	F426S	probably damaging	Het
Diras1	G	A	10: 80,858,078 (GRCm39)	Q58*	probably null	Het
Dnaaf6rt	A	T	1: 31,262,608 (GRCm39)	I197F	probably benign	Het
Dpy19l2	A	G	9: 24,607,293 (GRCm39)	L56P	probably benign	Het
Dsc1	A	T	18: 20,234,910 (GRCm39)	V248D	possibly damaging	Het
Frem3	A	G	8: 81,338,948 (GRCm39)	M414V	probably benign	Het
Frmd4b	G	T	6: 97,279,309 (GRCm39)		probably null	Het
Glt1d1	A	G	5: 127,721,420 (GRCm39)	R36G	probably benign	Het
Grb10	T	C	11: 11,894,924 (GRCm39)		silent	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Hc	A	G	2: 34,886,026 (GRCm39)		probably null	Het
Hgd	A	G	16: 37,448,913 (GRCm39)	E379G	possibly damaging	Het
Ifi30	A	T	8: 71,219,245 (GRCm39)		probably benign	Het
Iqgap1	T	C	7: 80,388,472 (GRCm39)	I842V	possibly damaging	Het
Iqsec3	T	A	6: 121,363,659 (GRCm39)		probably null	Het
Kalrn	A	G	16: 34,072,711 (GRCm39)	S724P	possibly damaging	Het
Lama2	C	A	10: 27,088,069 (GRCm39)	G903*	probably null	Het
Lrrc10	T	C	10: 116,881,392 (GRCm39)	V22A	probably benign	Het
Lzts3	T	C	2: 130,478,021 (GRCm39)	E245G	probably benign	Het
Man2a1	A	G	17: 64,958,222 (GRCm39)	T246A	probably damaging	Het
Mfsd13a	A	G	19: 46,356,719 (GRCm39)	E240G	probably benign	Het
Mtor	T	C	4: 148,550,549 (GRCm39)	I735T	possibly damaging	Het
Naa15	A	T	3: 51,363,315 (GRCm39)	H333L	probably damaging	Het
Nes	C	A	3: 87,885,725 (GRCm39)	T1284K	probably damaging	Het
Nexn	T	G	3: 151,953,709 (GRCm39)	H173P	probably benign	Het
Nid2	T	C	14: 19,855,379 (GRCm39)	V1173A	possibly damaging	Het
Npepps	A	G	11: 97,131,753 (GRCm39)		probably null	Het
Pgm1	T	A	4: 99,824,266 (GRCm39)	M313K	probably damaging	Het
Plag1	T	A	4: 3,905,545 (GRCm39)	K48N	probably damaging	Het
Prok1	G	C	3: 107,146,935 (GRCm39)	L11V	probably benign	Het
Ptpn9	T	C	9: 56,967,347 (GRCm39)		probably null	Het
Skint8	C	A	4: 111,807,390 (GRCm39)	L359M	probably damaging	Het
Slc38a4	A	T	15: 96,908,229 (GRCm39)	F171I	possibly damaging	Het
Sycp1	A	T	3: 102,841,569 (GRCm39)	N78K	possibly damaging	Het
Tas2r110	T	C	6: 132,844,972 (GRCm39)	M1T	probably null	Het
Thoc2l	G	A	5: 104,667,523 (GRCm39)	V682I	probably benign	Het
Tmem260	G	A	14: 48,724,267 (GRCm39)	V182M	possibly damaging	Het
Tmem30a	A	T	9: 79,683,436 (GRCm39)	N144K	probably damaging	Het
Vmn2r108	A	G	17: 20,691,866 (GRCm39)	L219P	probably damaging	Het
Vmn2r57	A	G	7: 41,049,398 (GRCm39)	S784P	probably damaging	Het
Vwf	T	C	6: 125,644,473 (GRCm39)		probably benign	Het
Wdr62	A	C	7: 29,967,300 (GRCm39)	V318G	probably damaging	Het
Zfp398	T	A	6: 47,840,115 (GRCm39)	S115T	probably benign	Het
Zfp62	T	A	11: 49,107,975 (GRCm39)	C689S	probably damaging	Het
Zmynd15	C	G	11: 70,356,830 (GRCm39)	P580R	unknown	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
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
R6939:Gabarapl2	UTSW	8	112,669,201 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCAAGCCCTGTGGGTAAGTG -3'
(R):5'- GAAGAAGTTGTACTAAGAACACCTC -3'

Sequencing Primer
(F):5'- TAAGTGCTGGAGCTCGCTCTC -3'
(R):5'- AGAACACCTCCTATGGTTTGAG -3'

Posted On

2016-08-04