Mutagenetix > Incidental Mutation

Incidental Mutation 'R7331:Gabarap'

569245

Institutional Source

Beutler Lab

Gene Symbol

Gabarap

Ensembl Gene

ENSMUSG00000018567

Gene Name

gamma-aminobutyric acid receptor associated protein

Synonyms

MMRRC Submission

045424-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7331 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69882196-69885775 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69885298 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 101 (E101G)

Ref Sequence

ENSEMBL: ENSMUSP00000018711 (fasta)

Gene Model

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

AlphaFold

Q9DCD6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018711
AA Change: E101G

PolyPhen 2 Score 0.849 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000018711
Gene: ENSMUSG00000018567
AA Change: E101G

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: K70E

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000104233
Gene: ENSMUSG00000018567
AA Change: K70E

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

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: 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: 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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (48/48)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,331,728 (GRCm39)	H47L	possibly damaging	Het
Adgrf5	T	C	17: 43,748,484 (GRCm39)	S438P	probably damaging	Het
Atg16l2	C	A	7: 100,948,255 (GRCm39)	K96N	probably damaging	Het
Bglap2	A	T	3: 88,285,567 (GRCm39)	M35K	possibly damaging	Het
Btbd1	T	A	7: 81,465,720 (GRCm39)	I209L	probably damaging	Het
Cdc34	T	C	10: 79,521,146 (GRCm39)	Y148H	probably damaging	Het
Clcc1	A	G	3: 108,575,394 (GRCm39)	D157G	probably damaging	Het
Csmd2	A	T	4: 128,458,021 (GRCm39)		probably null	Het
Ctsj	G	A	13: 61,151,645 (GRCm39)	S90L	probably benign	Het
Cycs	A	G	6: 50,542,532 (GRCm39)	F37L	probably benign	Het
Dync2li1	T	A	17: 84,955,086 (GRCm39)	C248*	probably null	Het
Dzank1	A	T	2: 144,332,190 (GRCm39)	I382N	probably benign	Het
Eif4a3l2	G	A	6: 116,529,130 (GRCm39)	V336I	probably benign	Het
Enpp2	T	C	15: 54,739,066 (GRCm39)	I406V	probably damaging	Het
Ero1b	A	G	13: 12,615,015 (GRCm39)	E282G	probably damaging	Het
Fastkd5	A	T	2: 130,457,647 (GRCm39)	N314K	possibly damaging	Het
Fbh1	A	T	2: 11,768,797 (GRCm39)	C300S	probably benign	Het
Fchsd1	T	C	18: 38,101,823 (GRCm39)	I49V	possibly damaging	Het
Foxn1	A	G	11: 78,249,615 (GRCm39)	Y637H	probably damaging	Het
Gm7247	A	G	14: 51,601,792 (GRCm39)	R22G	probably damaging	Het
Gm7694	A	T	1: 170,129,180 (GRCm39)	D116E	possibly damaging	Het
Gm9508	A	G	10: 77,532,629 (GRCm39)	C147R	unknown	Het
Gpr152	A	G	19: 4,192,608 (GRCm39)	M50V	probably damaging	Het
Hunk	T	A	16: 90,269,450 (GRCm39)	N331K	possibly damaging	Het
Il1r2	A	G	1: 40,162,409 (GRCm39)	T351A	probably benign	Het
Iqub	A	G	6: 24,500,393 (GRCm39)	V287A	possibly damaging	Het
Lix1	A	T	17: 17,647,474 (GRCm39)	T47S	probably benign	Het
Lrp1b	A	T	2: 40,553,622 (GRCm39)		probably null	Het
Nup107	G	A	10: 117,606,103 (GRCm39)	T500I	probably damaging	Het
Phf21b	G	C	15: 84,675,295 (GRCm39)	R405G	probably benign	Het
Piezo2	A	G	18: 63,241,101 (GRCm39)	V709A	probably damaging	Het
Psme3ip1	T	A	8: 95,309,564 (GRCm39)	K143*	probably null	Het
Rfc1	T	C	5: 65,468,387 (GRCm39)	T109A	probably damaging	Het
Rpa1	A	G	11: 75,203,941 (GRCm39)	V302A	probably damaging	Het
Ryr2	A	G	13: 11,760,517 (GRCm39)	I1522T	probably benign	Het
Ryr3	C	A	2: 112,594,010 (GRCm39)	R2578L	possibly damaging	Het
Scgb2b18	C	T	7: 32,872,681 (GRCm39)	W41*	probably null	Het
Sdccag8	C	G	1: 176,695,856 (GRCm39)	Q387E	possibly damaging	Het
Slc25a17	G	A	15: 81,213,346 (GRCm39)	T119M	probably damaging	Het
Slc45a4	G	T	15: 73,477,489 (GRCm39)	Q16K	probably benign	Het
Slc4a1	G	A	11: 102,252,245 (GRCm39)		probably benign	Het
Slc7a14	T	C	3: 31,311,880 (GRCm39)	T47A	probably benign	Het
Stard6	A	G	18: 70,616,553 (GRCm39)	R71G	probably damaging	Het
Tecr	A	G	8: 84,298,564 (GRCm39)	V321A	probably damaging	Het
Ttc3	T	A	16: 94,195,218 (GRCm39)	F290L	probably benign	Het
Uqcc1	A	G	2: 155,753,731 (GRCm39)	V48A	probably benign	Het
V1rd19	T	A	7: 23,703,308 (GRCm39)	I258N	probably damaging	Het
Zar1	T	A	5: 72,737,655 (GRCm39)	E249V	possibly damaging	Het
Zfp101	T	C	17: 33,601,559 (GRCm39)	T66A	possibly damaging	Het
Zyx	A	G	6: 42,328,593 (GRCm39)	H230R	probably benign	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
R4603:Gabarap	UTSW	11	69,885,287 (GRCm39)	missense	probably benign	0.04
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
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'- CCGGTTCTTAAGTTGCCTTG -3'
(R):5'- GAGGCTGTATCTACCATTACCCC -3'

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

Posted On

2019-09-13