Mutagenetix > Incidental Mutation

Incidental Mutation 'R7793:Gabbr1'

600084

Institutional Source

Beutler Lab

Gene Symbol

Gabbr1

Ensembl Gene

ENSMUSG00000024462

Gene Name

gamma-aminobutyric acid type B receptor subunit 1

Synonyms

GABAB1, GABAbR1

MMRRC Submission

045849-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.631) question?

Stock #

R7793 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37356888-37385197 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 37358393 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 44 (G44S)

Ref Sequence

ENSEMBL: ENSMUSP00000025338 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025338] [ENSMUST00000172789] [ENSMUST00000172792] [ENSMUST00000173823] [ENSMUST00000174347] [ENSMUST00000174456]

AlphaFold

Q9WV18

Predicted Effect

probably benign
Transcript: ENSMUST00000025338
AA Change: G44S

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000025338
Gene: ENSMUSG00000024462
AA Change: G44S

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
CCP	29	95	8.72e0	SMART
CCP	99	156	3.03e-10	SMART
Pfam:Peripla_BP_6	168	538	1.6e-23	PFAM
Pfam:ANF_receptor	186	542	4.3e-73	PFAM
Pfam:7tm_3	602	858	9.8e-49	PFAM
coiled coil region	877	922	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000172789
AA Change: G44S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000134580
Gene: ENSMUSG00000024462
AA Change: G44S

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
CCP	29	95	8.72e0	SMART
CCP	99	156	3.03e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172792

SMART Domains

Protein: ENSMUSP00000134268
Gene: ENSMUSG00000024462

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
low complexity region	30	51	N/A	INTRINSIC
Pfam:Peripla_BP_6	52	428	7.8e-24	PFAM
Pfam:ANF_receptor	70	426	5.7e-68	PFAM
Pfam:7tm_3	484	743	1.1e-50	PFAM
coiled coil region	761	806	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000173823
AA Change: G44S

SMART Domains

Protein: ENSMUSP00000133797
Gene: ENSMUSG00000024462
AA Change: G44S

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Sushi	29	95	1.6e-6	PFAM
low complexity region	159	176	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174347

SMART Domains

Protein: ENSMUSP00000134346
Gene: ENSMUSG00000024462

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
low complexity region	30	51	N/A	INTRINSIC
Pfam:ANF_receptor	102	213	1e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000174456
AA Change: G44S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000134409
Gene: ENSMUSG00000024462
AA Change: G44S

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
CCP	29	95	8.72e0	SMART
CCP	99	156	3.03e-10	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (94/94)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a receptor for gamma-aminobutyric acid (GABA), which is the main inhibitory neurotransmitter in the mammalian central nervous system. This receptor functions as a heterodimer with GABA(B) receptor 2. Defects in this gene may underlie brain disorders such as schizophrenia and epilepsy. Alternative splicing generates multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jan 2016]
PHENOTYPE: Phenotypes of null mice vary depending on strain background and allele. Homozygous null mice may display seizures, premature death, and abnormal nervous system electrophysiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002J24Rik	T	G	7: 30,399,368 (GRCm39)	I54S	probably damaging	Het
2310002L09Rik	C	T	4: 73,861,172 (GRCm39)	V143M	probably benign	Het
Abca1	T	C	4: 53,042,367 (GRCm39)	I1902V	not run	Het
Apob	A	C	12: 8,058,124 (GRCm39)	D2202A	probably damaging	Het
Arhgap44	T	A	11: 64,900,750 (GRCm39)	S623C	probably damaging	Het
Arhgef7	T	A	8: 11,874,507 (GRCm39)	W713R	possibly damaging	Het
Axdnd1	A	C	1: 156,166,313 (GRCm39)		probably null	Het
Bcl9l	C	A	9: 44,420,994 (GRCm39)	H1467N	probably damaging	Het
Bcl9l	T	C	9: 44,420,263 (GRCm39)	M1223T	probably benign	Het
Bltp2	C	T	11: 78,164,031 (GRCm39)	P1124L	possibly damaging	Het
Brinp3	A	G	1: 146,622,306 (GRCm39)	N236S	probably benign	Het
Cckbr	T	G	7: 105,082,798 (GRCm39)	L54V	probably benign	Het
Cd6	G	A	19: 10,775,722 (GRCm39)	Q246*	probably null	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Ces3a	T	A	8: 105,782,293 (GRCm39)		probably null	Het
Cgnl1	T	A	9: 71,632,917 (GRCm39)	N145Y	probably damaging	Het
Col6a5	T	C	9: 105,775,934 (GRCm39)	D1707G	probably damaging	Het
Cyp2w1	A	G	5: 139,341,895 (GRCm39)	T103A	probably damaging	Het
Dip2a	A	T	10: 76,114,417 (GRCm39)	I1021N	probably benign	Het
Dnah2	T	C	11: 69,386,040 (GRCm39)	T981A	probably benign	Het
Dnah8	A	G	17: 31,074,918 (GRCm39)	I4546V	probably benign	Het
E2f8	A	C	7: 48,527,823 (GRCm39)	F106L	probably benign	Het
Ecpas	T	C	4: 58,853,150 (GRCm39)	N395S	probably damaging	Het
Eif4g1	G	A	16: 20,507,364 (GRCm39)	V1413I	probably benign	Het
Epha10	G	A	4: 124,808,246 (GRCm39)	V688I	probably benign	Het
Exoc2	A	T	13: 31,095,161 (GRCm39)	V245D	probably benign	Het
Eya4	T	A	10: 23,102,714 (GRCm39)	E23D	probably benign	Het
Fbxw10	T	A	11: 62,738,213 (GRCm39)	W36R	possibly damaging	Het
Gabrg3	T	A	7: 56,829,328 (GRCm39)	Q143L	probably benign	Het
Gm14412	A	C	2: 177,007,660 (GRCm39)	I78M	possibly damaging	Het
Gm7298	T	C	6: 121,737,563 (GRCm39)		probably null	Het
Hpse2	A	T	19: 43,376,509 (GRCm39)	L81Q	probably damaging	Het
Il18r1	A	G	1: 40,510,924 (GRCm39)	H3R	probably benign	Het
Kansl1l	T	C	1: 66,817,173 (GRCm39)	K396E	probably damaging	Het
Kbtbd3	T	A	9: 4,331,221 (GRCm39)	S532T	probably damaging	Het
Lrrtm4	T	C	6: 79,999,841 (GRCm39)	Y418H	probably damaging	Het
Mfng	G	A	15: 78,657,265 (GRCm39)	R70C	probably damaging	Het
Mx2	T	A	16: 97,348,083 (GRCm39)	I236K	probably damaging	Het
Mysm1	T	C	4: 94,853,369 (GRCm39)	Q410R	probably damaging	Het
Nlrp12	T	C	7: 3,294,030 (GRCm39)	N100S	probably benign	Het
Nlrp4b	T	A	7: 10,459,001 (GRCm39)	H773Q	probably benign	Het
Nlrp5	T	A	7: 23,123,343 (GRCm39)	S735T	possibly damaging	Het
Nt5c2	G	A	19: 46,880,020 (GRCm39)	R363W	probably benign	Het
Or12k8	A	G	2: 36,974,933 (GRCm39)	F276L	possibly damaging	Het
Or3a10	T	A	11: 73,935,614 (GRCm39)	H162L	possibly damaging	Het
Otud7b	A	T	3: 96,062,528 (GRCm39)	Y589F	probably benign	Het
P2rx1	T	A	11: 72,900,079 (GRCm39)	C165*	probably null	Het
Pax8	T	C	2: 24,319,609 (GRCm39)	D354G	possibly damaging	Het
Pdcd11	G	A	19: 47,094,871 (GRCm39)	V552I	probably benign	Het
Pde6c	G	T	19: 38,148,201 (GRCm39)	C485F	possibly damaging	Het
Pex5	T	C	6: 124,376,300 (GRCm39)	Y434C	probably benign	Het
Ppargc1a	T	C	5: 51,619,851 (GRCm39)		probably null	Het
Prss2	A	T	6: 41,501,886 (GRCm39)	D224V	possibly damaging	Het
Psd2	A	G	18: 36,136,032 (GRCm39)	N440S	probably benign	Het
Psmb3	T	A	11: 97,603,265 (GRCm39)	D159E	probably benign	Het
Ptgr2	T	G	12: 84,354,575 (GRCm39)	L252R	probably damaging	Het
Ptpro	A	T	6: 137,393,818 (GRCm39)	N829Y	probably damaging	Het
Rhobtb2	C	A	14: 70,034,280 (GRCm39)	R315L	probably benign	Het
Rimbp2	A	T	5: 128,866,759 (GRCm39)	V520D	possibly damaging	Het
Schip1	A	T	3: 68,401,911 (GRCm39)	Y24F	probably benign	Het
Sdha	A	T	13: 74,479,555 (GRCm39)	V432E	probably damaging	Het
Sez6	T	C	11: 77,868,426 (GRCm39)	L929P	probably damaging	Het
Shcbp1l	A	G	1: 153,323,571 (GRCm39)	I466V	probably benign	Het
Skor1	T	C	9: 63,052,167 (GRCm39)	S601G	probably damaging	Het
Slc6a7	A	C	18: 61,138,851 (GRCm39)	L219R	probably damaging	Het
Smok2a	T	C	17: 13,444,513 (GRCm39)	M30T	possibly damaging	Het
Sp8	A	G	12: 118,813,144 (GRCm39)	D333G	probably damaging	Het
Spp1	G	A	5: 104,588,200 (GRCm39)	D201N	probably damaging	Het
Sstr3	A	T	15: 78,424,588 (GRCm39)	L53Q	probably damaging	Het
Tacc2	T	A	7: 130,224,843 (GRCm39)	N509K	probably benign	Het
Tdrd1	T	C	19: 56,852,809 (GRCm39)	V1030A	probably damaging	Het
Tfrc	A	G	16: 32,437,985 (GRCm39)	K346R	probably benign	Het
Tgm3	G	A	2: 129,854,330 (GRCm39)		probably null	Het
Tomm5	C	A	4: 45,106,651 (GRCm39)	L88F	unknown	Het
Trak1	T	A	9: 121,245,264 (GRCm39)	C46*	probably null	Het
Trim8	A	T	19: 46,504,053 (GRCm39)	D535V	probably damaging	Het
Trpm7	A	T	2: 126,665,995 (GRCm39)	Y870*	probably null	Het
Tspoap1	T	C	11: 87,655,136 (GRCm39)	L286P	probably benign	Het
Ttll3	AAGTA	AAGTAGAGTA	6: 113,376,120 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,562,389 (GRCm39)	I28819F	probably damaging	Het
Twf2	T	C	9: 106,089,079 (GRCm39)	S89P	probably damaging	Het
Ulk4	C	T	9: 121,092,734 (GRCm39)	E168K	possibly damaging	Het
Unc13b	T	A	4: 43,172,737 (GRCm39)	N1188K	unknown	Het
Utp6	C	T	11: 79,828,556 (GRCm39)	V528I	probably benign	Het
Vmn1r78	T	C	7: 11,887,241 (GRCm39)	F284S	probably benign	Het
Vmn2r54	T	A	7: 12,366,196 (GRCm39)	Q246L	probably damaging	Het
Vmn2r87	A	G	10: 130,313,413 (GRCm39)	M451T	probably benign	Het
Vwf	C	T	6: 125,663,483 (GRCm39)	P2808L		Het
Wdr97	T	C	15: 76,243,307 (GRCm39)	L989P		Het
Wwc1	T	C	11: 35,759,936 (GRCm39)	Q693R	probably benign	Het
Zfp582	C	T	7: 6,356,886 (GRCm39)	S233L	probably damaging	Het
Zfp658	T	A	7: 43,224,108 (GRCm39)	H794Q	possibly damaging	Het
Zfp882	A	G	8: 72,666,985 (GRCm39)	D8G	probably damaging	Het

Other mutations in Gabbr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Gabbr1	APN	17	37,359,335 (GRCm39)	nonsense	probably null
IGL01309:Gabbr1	APN	17	37,359,499 (GRCm39)	critical splice donor site	probably null
IGL01413:Gabbr1	APN	17	37,373,598 (GRCm39)	missense	possibly damaging	0.93
IGL01568:Gabbr1	APN	17	37,381,561 (GRCm39)	missense	probably damaging	1.00
IGL01845:Gabbr1	APN	17	37,359,306 (GRCm39)	splice site	probably benign
IGL02083:Gabbr1	APN	17	37,380,957 (GRCm39)	missense	possibly damaging	0.84
IGL02302:Gabbr1	APN	17	37,365,689 (GRCm39)	missense	probably damaging	1.00
IGL02430:Gabbr1	APN	17	37,367,200 (GRCm39)	nonsense	probably null
IGL02533:Gabbr1	APN	17	37,383,039 (GRCm39)	missense	probably damaging	1.00
IGL02810:Gabbr1	APN	17	37,373,654 (GRCm39)	missense	probably damaging	1.00
H8562:Gabbr1	UTSW	17	37,382,841 (GRCm39)	missense	probably damaging	1.00
PIT4449001:Gabbr1	UTSW	17	37,367,242 (GRCm39)	missense	probably damaging	1.00
R0025:Gabbr1	UTSW	17	37,378,102 (GRCm39)	intron	probably benign
R0420:Gabbr1	UTSW	17	37,357,654 (GRCm39)	missense	possibly damaging	0.68
R0464:Gabbr1	UTSW	17	37,361,726 (GRCm39)	unclassified	probably benign
R1306:Gabbr1	UTSW	17	37,366,882 (GRCm39)	splice site	probably null
R1412:Gabbr1	UTSW	17	37,365,805 (GRCm39)	splice site	probably null
R1495:Gabbr1	UTSW	17	37,366,832 (GRCm39)	missense	possibly damaging	0.68
R1612:Gabbr1	UTSW	17	37,381,561 (GRCm39)	missense	probably damaging	1.00
R1658:Gabbr1	UTSW	17	37,358,399 (GRCm39)	missense	probably damaging	0.96
R1763:Gabbr1	UTSW	17	37,365,659 (GRCm39)	missense	probably damaging	1.00
R1779:Gabbr1	UTSW	17	37,365,771 (GRCm39)	missense	probably damaging	1.00
R1964:Gabbr1	UTSW	17	37,359,351 (GRCm39)	missense	probably damaging	1.00
R1996:Gabbr1	UTSW	17	37,380,112 (GRCm39)	missense	probably damaging	1.00
R2014:Gabbr1	UTSW	17	37,367,674 (GRCm39)	splice site	probably null
R2255:Gabbr1	UTSW	17	37,382,758 (GRCm39)	missense	probably damaging	1.00
R4299:Gabbr1	UTSW	17	37,366,792 (GRCm39)	nonsense	probably null
R4458:Gabbr1	UTSW	17	37,378,667 (GRCm39)	critical splice acceptor site	probably null
R4510:Gabbr1	UTSW	17	37,380,103 (GRCm39)	missense	probably damaging	1.00
R4511:Gabbr1	UTSW	17	37,380,103 (GRCm39)	missense	probably damaging	1.00
R4571:Gabbr1	UTSW	17	37,365,128 (GRCm39)	nonsense	probably null
R4597:Gabbr1	UTSW	17	37,367,791 (GRCm39)	missense	possibly damaging	0.74
R5109:Gabbr1	UTSW	17	37,382,920 (GRCm39)	intron	probably benign
R5119:Gabbr1	UTSW	17	37,359,330 (GRCm39)	missense	probably damaging	0.99
R5227:Gabbr1	UTSW	17	37,380,958 (GRCm39)	missense	possibly damaging	0.93
R5253:Gabbr1	UTSW	17	37,366,805 (GRCm39)	missense	possibly damaging	0.87
R5443:Gabbr1	UTSW	17	37,381,648 (GRCm39)	missense	probably damaging	1.00
R5485:Gabbr1	UTSW	17	37,367,767 (GRCm39)	missense	possibly damaging	0.83
R5839:Gabbr1	UTSW	17	37,378,760 (GRCm39)	missense	probably damaging	1.00
R5976:Gabbr1	UTSW	17	37,378,754 (GRCm39)	missense	probably damaging	1.00
R6156:Gabbr1	UTSW	17	37,359,319 (GRCm39)	missense	probably benign	0.01
R6167:Gabbr1	UTSW	17	37,374,271 (GRCm39)	missense	probably damaging	1.00
R6214:Gabbr1	UTSW	17	37,380,257 (GRCm39)	missense	probably damaging	1.00
R6215:Gabbr1	UTSW	17	37,380,257 (GRCm39)	missense	probably damaging	1.00
R6348:Gabbr1	UTSW	17	37,367,791 (GRCm39)	missense	possibly damaging	0.94
R6721:Gabbr1	UTSW	17	37,365,084 (GRCm39)	missense	probably damaging	0.98
R7028:Gabbr1	UTSW	17	37,375,629 (GRCm39)	nonsense	probably null
R7317:Gabbr1	UTSW	17	37,380,305 (GRCm39)	missense	probably damaging	1.00
R7786:Gabbr1	UTSW	17	37,380,955 (GRCm39)	missense	probably damaging	0.98
R7833:Gabbr1	UTSW	17	37,367,861 (GRCm39)	missense	possibly damaging	0.88
R8110:Gabbr1	UTSW	17	37,359,475 (GRCm39)	missense	probably benign	0.10
R8318:Gabbr1	UTSW	17	37,373,435 (GRCm39)	missense	probably benign	0.23
R8774:Gabbr1	UTSW	17	37,382,749 (GRCm39)	missense	probably damaging	1.00
R8774-TAIL:Gabbr1	UTSW	17	37,382,749 (GRCm39)	missense	probably damaging	1.00
R8890:Gabbr1	UTSW	17	37,358,436 (GRCm39)	missense	probably benign	0.02
R9144:Gabbr1	UTSW	17	37,362,049 (GRCm39)	missense	probably benign
R9292:Gabbr1	UTSW	17	37,366,784 (GRCm39)	missense	possibly damaging	0.94
R9359:Gabbr1	UTSW	17	37,381,605 (GRCm39)	missense	probably damaging	1.00
X0010:Gabbr1	UTSW	17	37,381,672 (GRCm39)	missense	probably damaging	0.99
Z1177:Gabbr1	UTSW	17	37,359,316 (GRCm39)	missense	possibly damaging	0.57

Predicted Primers

PCR Primer
(F):5'- TGGGGTTCTTAACTGTTCCCAC -3'
(R):5'- TGGTCTGCAACTGAGAATGG -3'

Sequencing Primer
(F):5'- CCAGCTTCCAGTCGTGTG -3'
(R):5'- TCTGCAACTGAGAATGGAAGGG -3'

Posted On

2019-11-26