Mutagenetix > Incidental Mutation

Incidental Mutation 'R4603:Gabarap'

500688

Institutional Source

Beutler Lab

Gene Symbol

Gabarap

Ensembl Gene

ENSMUSG00000018567

Gene Name

gamma-aminobutyric acid receptor associated protein

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4603 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69882196-69885775 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69885287 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 66 (N66S)

Ref Sequence

ENSEMBL: ENSMUSP00000104233 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018711] [ENSMUST00000018716] [ENSMUST00000101526] [ENSMUST00000108592] [ENSMUST00000108593] [ENSMUST00000153684] [ENSMUST00000135814] [ENSMUST00000133485] [ENSMUST00000138186] [ENSMUST00000141623]

AlphaFold

Q9DCD6

Predicted Effect

silent
Transcript: ENSMUST00000018711

SMART Domains

Protein: ENSMUSP00000018711
Gene: ENSMUSG00000018567

Domain	Start	End	E-Value	Type
Pfam:Atg8	13	116	1.8e-51	PFAM
Pfam:APG12	30	116	6.2e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000018716

SMART Domains

Protein: ENSMUSP00000018716
Gene: ENSMUSG00000018572

Domain	Start	End	E-Value	Type
low complexity region	13	26	N/A	INTRINSIC
low complexity region	147	161	N/A	INTRINSIC
low complexity region	188	196	N/A	INTRINSIC
low complexity region	210	224	N/A	INTRINSIC
low complexity region	225	241	N/A	INTRINSIC
low complexity region	247	261	N/A	INTRINSIC
low complexity region	263	286	N/A	INTRINSIC
PHD	339	383	1.2e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000101526

SMART Domains

Protein: ENSMUSP00000099064
Gene: ENSMUSG00000018572

Domain	Start	End	E-Value	Type
low complexity region	13	26	N/A	INTRINSIC
low complexity region	80	94	N/A	INTRINSIC
low complexity region	121	129	N/A	INTRINSIC
low complexity region	143	157	N/A	INTRINSIC
low complexity region	158	174	N/A	INTRINSIC
low complexity region	180	194	N/A	INTRINSIC
low complexity region	196	219	N/A	INTRINSIC
PHD	272	316	1.2e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108592
AA Change: N66S

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000104233
Gene: ENSMUSG00000018567
AA Change: N66S

Domain	Start	End	E-Value	Type
Pfam:Atg8	13	93	5.4e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108593

SMART Domains

Protein: ENSMUSP00000104234
Gene: ENSMUSG00000018559

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
CPDc	60	212	7.35e-76	SMART
low complexity region	214	224	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123817

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131531

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144443

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146789

Predicted Effect

probably benign
Transcript: ENSMUST00000153684

SMART Domains

Protein: ENSMUSP00000121780
Gene: ENSMUSG00000018572

Domain	Start	End	E-Value	Type
low complexity region	17	31	N/A	INTRINSIC
low complexity region	58	66	N/A	INTRINSIC
low complexity region	80	94	N/A	INTRINSIC
low complexity region	95	111	N/A	INTRINSIC
low complexity region	117	131	N/A	INTRINSIC
low complexity region	133	156	N/A	INTRINSIC
PHD	209	253	1.2e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139007

Predicted Effect

probably benign
Transcript: ENSMUST00000135814

SMART Domains

Protein: ENSMUSP00000120665
Gene: ENSMUSG00000018572

Domain	Start	End	E-Value	Type
low complexity region	17	31	N/A	INTRINSIC
low complexity region	58	66	N/A	INTRINSIC
low complexity region	80	94	N/A	INTRINSIC
low complexity region	95	111	N/A	INTRINSIC
low complexity region	117	131	N/A	INTRINSIC
low complexity region	133	156	N/A	INTRINSIC
PHD	209	253	1.2e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000133485

SMART Domains

Protein: ENSMUSP00000117373
Gene: ENSMUSG00000018572

Domain	Start	End	E-Value	Type
low complexity region	17	31	N/A	INTRINSIC
low complexity region	58	66	N/A	INTRINSIC
low complexity region	80	94	N/A	INTRINSIC
low complexity region	95	111	N/A	INTRINSIC
low complexity region	117	131	N/A	INTRINSIC
low complexity region	133	156	N/A	INTRINSIC
PHD	209	253	1.2e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000138186

SMART Domains

Protein: ENSMUSP00000117635
Gene: ENSMUSG00000018572

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
low complexity region	137	151	N/A	INTRINSIC
low complexity region	178	186	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000141623

SMART Domains

Protein: ENSMUSP00000137199
Gene: ENSMUSG00000018559

Domain	Start	End	E-Value	Type
CPDc	1	79	6.29e-11	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141231

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152226

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138246

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Gamma-aminobutyric acid A receptors [GABA(A) receptors] are ligand-gated chloride channels that mediate inhibitory neurotransmission. This gene encodes GABA(A) receptor-associated protein, which is highly positively charged in its N-terminus and shares sequence similarity with light chain-3 of microtubule-associated proteins 1A and 1B. This protein clusters neurotransmitter receptors by mediating interaction with the cytoskeleton. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a disruption in this gene display a normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810024B03Rik	A	G	2: 127,029,019 (GRCm39)	V60A	probably damaging	Het
AAdacl4fm3	A	G	4: 144,429,798 (GRCm39)	V397A	probably benign	Het
Afg3l1	A	G	8: 124,228,674 (GRCm39)	T747A	probably benign	Het
Aldh4a1	T	C	4: 139,370,740 (GRCm39)	S408P	probably damaging	Het
Ank2	T	C	3: 126,825,665 (GRCm39)	T445A	probably benign	Het
Antxrl	A	G	14: 33,797,792 (GRCm39)	E589G	possibly damaging	Het
Arhgef12	C	T	9: 42,921,489 (GRCm39)	G329R	probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
AY358078	T	A	14: 52,063,532 (GRCm39)	C393S	possibly damaging	Het
Bpnt2	T	C	4: 4,767,878 (GRCm39)	I299M	probably damaging	Het
Brca2	T	A	5: 150,459,630 (GRCm39)	C302S	possibly damaging	Het
Ccdc169	T	A	3: 55,058,226 (GRCm39)	M4K	probably benign	Het
Ccdc66	T	C	14: 27,222,377 (GRCm39)	N122S	probably damaging	Het
Cd226	T	C	18: 89,225,343 (GRCm39)	V80A	probably damaging	Het
Cdc73	T	C	1: 143,553,595 (GRCm39)		probably null	Het
Cfap96	A	T	8: 46,423,505 (GRCm39)	I69N	probably damaging	Het
Cse1l	T	C	2: 166,786,452 (GRCm39)	V604A	probably benign	Het
Cxcr1	G	C	1: 74,231,896 (GRCm39)	T42S	probably benign	Het
Dhx9	TCC	TC	1: 153,342,797 (GRCm39)		probably null	Het
Ercc3	G	A	18: 32,378,624 (GRCm39)	A202T	probably benign	Het
Erp27	A	G	6: 136,896,947 (GRCm39)	V85A	probably damaging	Het
Fam3d	T	A	14: 8,358,429 (GRCm38)	S57C	probably damaging	Het
Fgf8	T	G	19: 45,726,592 (GRCm39)	I137L	probably benign	Het
Fgfrl1	T	A	5: 108,851,401 (GRCm39)	V106D	probably damaging	Het
Gaa	T	C	11: 119,169,784 (GRCm39)	W613R	probably damaging	Het
Gp1bb	A	T	16: 18,439,893 (GRCm39)	L67Q	probably damaging	Het
Gpn1	T	C	5: 31,654,696 (GRCm39)		probably null	Het
Gstt1	T	C	10: 75,629,969 (GRCm39)	Y48C	probably damaging	Het
Iqcg	C	T	16: 32,861,134 (GRCm39)	R194K	probably null	Het
Iqcg	C	G	16: 32,861,133 (GRCm39)		probably null	Het
Kcnj3	C	T	2: 55,336,991 (GRCm39)	R286*	probably null	Het
Klhl38	T	A	15: 58,186,616 (GRCm39)	I38F	possibly damaging	Het
Kmo	C	A	1: 175,479,208 (GRCm39)	P248Q	probably benign	Het
Mbtps1	A	T	8: 120,262,086 (GRCm39)	D354E	probably damaging	Het
Mcpt9	C	T	14: 56,266,049 (GRCm39)	V60M	probably damaging	Het
Mical3	C	A	6: 120,911,799 (GRCm39)	E1083*	probably null	Het
Mprip	T	C	11: 59,622,399 (GRCm39)	V162A	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Myocd	T	C	11: 65,078,571 (GRCm39)	D408G	possibly damaging	Het
Myt1l	A	G	12: 29,892,539 (GRCm39)	T59A	probably benign	Het
Ndufb7	A	G	8: 84,293,494 (GRCm39)	E16G	probably damaging	Het
Ndufs7	T	A	10: 80,092,501 (GRCm39)	Y203*	probably null	Het
Nploc4	C	T	11: 120,276,613 (GRCm39)	V478I	probably benign	Het
Nrap	A	G	19: 56,323,456 (GRCm39)		probably null	Het
Or5e1	A	T	7: 108,354,834 (GRCm39)	Y257F	probably damaging	Het
Or6c207	G	A	10: 129,104,274 (GRCm39)	A306V	probably benign	Het
Pald1	T	C	10: 61,184,395 (GRCm39)	T241A	probably benign	Het
Pdss2	T	C	10: 43,248,197 (GRCm39)	S234P	probably damaging	Het
Pias2	T	A	18: 77,217,803 (GRCm39)	V335E	probably damaging	Het
Ppip5k2	C	A	1: 97,682,861 (GRCm39)	K187N	probably damaging	Het
Ppp3cb	T	C	14: 20,570,714 (GRCm39)	N339S	possibly damaging	Het
Ppp4r1	T	G	17: 66,120,459 (GRCm39)	C181G	probably damaging	Het
Pramel27	T	A	4: 143,579,451 (GRCm39)	H345Q	probably benign	Het
Prkdc	G	A	16: 15,628,688 (GRCm39)	E3478K	probably damaging	Het
Prpf4b	T	C	13: 35,072,147 (GRCm39)		probably benign	Het
Psme3	T	A	11: 101,208,435 (GRCm39)		probably null	Het
Ptpre	C	A	7: 135,269,372 (GRCm39)	Y284*	probably null	Het
Scnn1a	A	G	6: 125,299,123 (GRCm39)	I94V	probably damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Shc2	T	C	10: 79,459,690 (GRCm39)	D418G	probably benign	Het
Sidt1	A	T	16: 44,075,389 (GRCm39)	D661E	probably damaging	Het
Slc35e2	T	C	4: 155,702,106 (GRCm39)	F290S	probably benign	Het
Sorcs1	A	G	19: 50,301,402 (GRCm39)		probably null	Het
Stox2	A	G	8: 47,645,970 (GRCm39)	S497P	probably damaging	Het
Tmem270	C	A	5: 134,930,482 (GRCm39)	E260*	probably null	Het
Tmtc2	T	C	10: 105,249,391 (GRCm39)	Y114C	probably benign	Het
Trim46	A	G	3: 89,150,958 (GRCm39)	F188S	probably benign	Het
Trim7	T	A	11: 48,728,355 (GRCm39)	M1K	probably null	Het
Txnip	A	G	3: 96,465,604 (GRCm39)	E18G	probably benign	Het
Usp34	A	G	11: 23,414,633 (GRCm39)	N2859D	probably damaging	Het
Vmn2r94	T	A	17: 18,477,647 (GRCm39)	I255F	probably benign	Het
Xkr5	T	A	8: 18,983,733 (GRCm39)	N603I	possibly damaging	Het
Zfp512	C	T	5: 31,637,570 (GRCm39)	A497V	probably benign	Het
Zfp518b	T	C	5: 38,830,970 (GRCm39)	N345S	probably damaging	Het

Other mutations in Gabarap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1480:Gabarap	UTSW	11	69,882,551 (GRCm39)	missense	probably damaging	1.00
R1728:Gabarap	UTSW	11	69,882,515 (GRCm39)	unclassified	probably benign
R1729:Gabarap	UTSW	11	69,882,515 (GRCm39)	unclassified	probably benign
R1730:Gabarap	UTSW	11	69,882,515 (GRCm39)	unclassified	probably benign
R1783:Gabarap	UTSW	11	69,882,515 (GRCm39)	unclassified	probably benign
R1784:Gabarap	UTSW	11	69,882,515 (GRCm39)	unclassified	probably benign
R1785:Gabarap	UTSW	11	69,882,515 (GRCm39)	unclassified	probably benign
R2142:Gabarap	UTSW	11	69,882,515 (GRCm39)	unclassified	probably benign
R4832:Gabarap	UTSW	11	69,882,678 (GRCm39)	unclassified	probably benign
R6377:Gabarap	UTSW	11	69,882,630 (GRCm39)	critical splice donor site	probably null
R7331:Gabarap	UTSW	11	69,885,298 (GRCm39)	missense	possibly damaging	0.85
R8293:Gabarap	UTSW	11	69,883,498 (GRCm39)	missense	possibly damaging	0.87
R9311:Gabarap	UTSW	11	69,882,549 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTCCGGTTCTTAAGTTGCC -3'
(R):5'- GAGGCTGTATCTACCATTACCC -3'

Sequencing Primer
(F):5'- AAGTTGCCTTGGTAGCCTTTAC -3'
(R):5'- CTCAAACATTAAGTGCAGGTCCTG -3'

Posted On

2017-12-01