Mutagenetix > Incidental Mutation

Incidental Mutation 'R0884:Gabarapl2'

81059

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

039051-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0884 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

112667335-112679547 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 112669137 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 32 (I32F)

Ref Sequence

ENSEMBL: ENSMUSP00000034428 (fasta)

Gene Model

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

AlphaFold

P60521

Predicted Effect

probably damaging
Transcript: ENSMUST00000034428
AA Change: I32F

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000034428
Gene: ENSMUSG00000031950
AA Change: I32F

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: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	T	14: 118,790,700 (GRCm39)	I844N	possibly damaging	Het
Acbd3	CGAGGAGGAGGAGGAGGA	CGAGGAGGAGGAGGA	1: 180,574,624 (GRCm39)		probably benign	Het
Adam6b	A	T	12: 113,454,615 (GRCm39)	R477S	probably damaging	Het
Aqp7	T	A	4: 41,034,929 (GRCm39)	T175S	possibly damaging	Het
Bclaf1	A	T	10: 20,197,822 (GRCm39)	R22*	probably null	Het
Bend7	A	T	2: 4,749,055 (GRCm39)	K57N	probably damaging	Het
Bicc1	A	C	10: 70,794,677 (GRCm39)	V160G	probably damaging	Het
Cacna2d4	C	T	6: 119,284,247 (GRCm39)	R745W	probably damaging	Het
Cep72	A	G	13: 74,203,000 (GRCm39)		probably null	Het
Cobl	A	G	11: 12,325,908 (GRCm39)	I196T	possibly damaging	Het
Cux1	T	G	5: 136,336,689 (GRCm39)	D941A	probably damaging	Het
Cyp2a12	T	C	7: 26,731,967 (GRCm39)	I236T	probably benign	Het
Dennd2b	A	G	7: 109,156,552 (GRCm39)	L66P	probably damaging	Het
Depdc5	T	A	5: 33,075,322 (GRCm39)	V500D	possibly damaging	Het
Dhx35	T	C	2: 158,673,631 (GRCm39)	I354T	probably damaging	Het
Dnase1l2	A	G	17: 24,660,854 (GRCm39)	V170A	possibly damaging	Het
Eif4g3	C	A	4: 137,879,087 (GRCm39)	N588K	possibly damaging	Het
Epsti1	A	T	14: 78,168,715 (GRCm39)	R117S	probably damaging	Het
Fam53a	T	C	5: 33,758,160 (GRCm39)	E321G	probably benign	Het
Fat4	C	A	3: 39,037,007 (GRCm39)	T3553K	possibly damaging	Het
Fer1l4	T	C	2: 155,861,233 (GRCm39)	T1978A	possibly damaging	Het
Gje1	G	T	10: 14,592,484 (GRCm39)	S99R	possibly damaging	Het
Gosr1	A	G	11: 76,620,972 (GRCm39)	I239T	probably benign	Het
Gpnmb	T	C	6: 49,024,847 (GRCm39)	V293A	possibly damaging	Het
Hyi	T	A	4: 118,217,414 (GRCm39)	I62N	probably damaging	Het
Il4ra	A	G	7: 125,173,835 (GRCm39)	I267V	probably damaging	Het
Kcnd2	A	T	6: 21,216,540 (GRCm39)	Q81H	probably benign	Het
Ksr1	A	T	11: 78,912,329 (GRCm39)	H675Q	possibly damaging	Het
Lpcat4	A	G	2: 112,073,077 (GRCm39)	N208S	probably damaging	Het
Muc17	T	A	5: 137,171,146 (GRCm39)	T162S	possibly damaging	Het
Mup3	T	A	4: 62,005,411 (GRCm39)	I20F	possibly damaging	Het
Nebl	A	C	2: 17,415,929 (GRCm39)	S327A	probably benign	Het
Nfatc4	A	C	14: 56,064,101 (GRCm39)	D126A	probably damaging	Het
Nmt2	A	T	2: 3,315,822 (GRCm39)	R271*	probably null	Het
Nol7	G	A	13: 43,554,091 (GRCm39)	V133I	probably benign	Het
Or1e1c	A	T	11: 73,265,715 (GRCm39)	I47F	probably benign	Het
Or51ag1	C	T	7: 103,156,069 (GRCm39)	W28*	probably null	Het
Pde4d	A	T	13: 110,087,474 (GRCm39)	I670L	probably damaging	Het
Phlpp1	T	A	1: 106,317,395 (GRCm39)		probably null	Het
Pigz	A	G	16: 31,760,794 (GRCm39)		probably null	Het
Pramel21	A	G	4: 143,341,754 (GRCm39)	D61G	probably benign	Het
Prrg4	A	T	2: 104,669,707 (GRCm39)	Y137N	probably damaging	Het
Rbm28	A	T	6: 29,155,153 (GRCm39)	S217T	possibly damaging	Het
Ryr2	T	C	13: 11,569,415 (GRCm39)	D4963G	probably damaging	Het
Slc35b2	T	A	17: 45,877,751 (GRCm39)	F293I	probably damaging	Het
Slc35f1	A	T	10: 52,965,443 (GRCm39)	Y286F	probably damaging	Het
Slc6a18	G	T	13: 73,815,156 (GRCm39)	A384D	probably damaging	Het
Syt9	A	G	7: 107,035,768 (GRCm39)	I262V	probably damaging	Het
Tln2	C	A	9: 67,278,015 (GRCm39)	R333L	probably damaging	Het
Tnrc6b	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAG	15: 80,786,756 (GRCm39)		probably benign	Het
Ttn	G	A	2: 76,581,410 (GRCm39)	T14834I	possibly damaging	Het
Uggt1	T	C	1: 36,214,159 (GRCm39)	S177G	probably benign	Het
Zfp454	A	G	11: 50,764,764 (GRCm39)	S223P	probably benign	Het
Zmat4	A	G	8: 24,505,143 (GRCm39)	T128A	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- GCTGTGCTTCTCTTACAAACGCTG -3'
(R):5'- CCACAAACAGGAAGATGGCCTTCTC -3'

Sequencing Primer
(F):5'- TGAGGAATATCAGTCAGCTCTG -3'
(R):5'- CTTCTCGGAGGGAAGCTG -3'

Posted On

2013-11-07