Mutagenetix > Incidental Mutation

Incidental Mutation 'R5119:Gabbr1'

392877

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

042707-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.631) question?

Stock #

R5119 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37356888-37385197 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37359330 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 102 (S102P)

Ref Sequence

ENSEMBL: ENSMUSP00000134409 (fasta)

Gene Model

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

AlphaFold

Q9WV18

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025338
AA Change: S102P

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025338
Gene: ENSMUSG00000024462
AA Change: S102P

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: S102P

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

SMART Domains

Protein: ENSMUSP00000134580
Gene: ENSMUSG00000024462
AA Change: S102P

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

noncoding transcript
Transcript: ENSMUST00000173564

Predicted Effect

probably benign
Transcript: ENSMUST00000173823

SMART Domains

Protein: ENSMUSP00000133797
Gene: ENSMUSG00000024462

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: S102P

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

SMART Domains

Protein: ENSMUSP00000134409
Gene: ENSMUSG00000024462
AA Change: S102P

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

noncoding transcript
Transcript: ENSMUST00000174826

Meta Mutation Damage Score

0.2567

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

100% (127/127)

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: 120 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930470P17Rik	C	A	2: 170,421,505 (GRCm39)	G125V	unknown	Het
Actr6	A	T	10: 89,561,717 (GRCm39)	L143Q	probably damaging	Het
Adamts18	A	G	8: 114,425,642 (GRCm39)	Y1207H	probably benign	Het
Adamts5	T	A	16: 85,696,466 (GRCm39)	R230S	probably benign	Het
Adat2	A	T	10: 13,432,650 (GRCm39)	N51Y	probably damaging	Het
Adgrv1	T	C	13: 81,567,546 (GRCm39)	Y5209C	possibly damaging	Het
Ahnak	G	T	19: 8,991,008 (GRCm39)	M4097I	probably benign	Het
Akap13	A	G	7: 75,337,000 (GRCm39)	T820A	probably damaging	Het
Als2cl	C	T	9: 110,719,887 (GRCm39)	R492C	probably damaging	Het
Aox3	G	A	1: 58,227,683 (GRCm39)		probably null	Het
Arid4b	G	A	13: 14,338,866 (GRCm39)	V446M	probably benign	Het
Armc2	A	G	10: 41,798,144 (GRCm39)	L794P	probably damaging	Het
Atp6v0a1	T	A	11: 100,911,341 (GRCm39)	M80K	probably benign	Het
Aup1	T	C	6: 83,032,115 (GRCm39)	V94A	probably damaging	Het
Bank1	A	T	3: 135,940,443 (GRCm39)	I180K	possibly damaging	Het
Becn1	A	G	11: 101,182,221 (GRCm39)	L116P	probably damaging	Het
Bsg	A	G	10: 79,546,057 (GRCm39)		probably benign	Het
Camk2a	A	T	18: 61,076,208 (GRCm39)		probably benign	Het
Ccdc180	A	G	4: 45,914,603 (GRCm39)	E706G	possibly damaging	Het
Cdk8	A	T	5: 146,220,437 (GRCm39)		probably null	Het
Cpne4	A	G	9: 104,778,720 (GRCm39)		probably null	Het
Cspp1	T	A	1: 10,196,688 (GRCm39)	N900K	probably damaging	Het
Cyp2c38	C	A	19: 39,449,065 (GRCm39)	G96V	probably damaging	Het
Dhx40	A	G	11: 86,667,462 (GRCm39)	I261T	probably damaging	Het
Dnah10	T	C	5: 124,856,322 (GRCm39)	F2038L	probably damaging	Het
Dnah7a	A	T	1: 53,737,851 (GRCm39)	D27E	probably benign	Het
Dock10	A	T	1: 80,545,711 (GRCm39)		probably null	Het
Dst	A	T	1: 34,235,050 (GRCm39)	K3710*	probably null	Het
Dtl	G	T	1: 191,273,618 (GRCm39)	A430D	probably damaging	Het
Ece2	T	C	16: 20,437,381 (GRCm39)	L241P	probably damaging	Het
Ecel1	T	A	1: 87,078,861 (GRCm39)	Y526F	probably benign	Het
Enpp2	T	A	15: 54,733,701 (GRCm39)	R420*	probably null	Het
Epb41	A	C	4: 131,664,747 (GRCm39)		probably benign	Het
Eppin	T	C	2: 164,431,371 (GRCm39)	Y85C	probably damaging	Het
Fam171a2	G	A	11: 102,329,559 (GRCm39)	A400V	probably damaging	Het
Fem1c	A	C	18: 46,639,436 (GRCm39)	C189G	probably damaging	Het
Frmd4b	A	G	6: 97,277,275 (GRCm39)	V560A	probably benign	Het
Fsip2	A	T	2: 82,818,535 (GRCm39)	D4756V	probably damaging	Het
Garin3	G	A	11: 46,297,863 (GRCm39)	G389D	probably damaging	Het
Gm28042	G	A	2: 119,865,124 (GRCm39)	A250T	probably damaging	Het
Gm30275	T	C	14: 54,312,978 (GRCm39)		probably benign	Het
Gm9762	A	T	3: 78,873,707 (GRCm39)		noncoding transcript	Het
Gpr183	G	T	14: 122,192,275 (GRCm39)	T82N	possibly damaging	Het
Gps2	A	G	11: 69,805,617 (GRCm39)	K45R	probably benign	Het
Gramd2a	A	G	9: 59,621,603 (GRCm39)		probably benign	Het
Grap2	G	A	15: 80,530,345 (GRCm39)	R155Q	possibly damaging	Het
Hsdl1	T	A	8: 120,292,606 (GRCm39)	Y203F	possibly damaging	Het
Ifi204	A	T	1: 173,583,234 (GRCm39)	I328N	probably damaging	Het
Igsf3	T	A	3: 101,346,677 (GRCm39)		probably null	Het
Il1rap	T	C	16: 26,442,949 (GRCm39)	I15T	probably benign	Het
Il23r	A	T	6: 67,443,300 (GRCm39)	C268S	probably damaging	Het
Irx4	A	G	13: 73,417,040 (GRCm39)	T479A	probably benign	Het
Kcnk7	G	A	19: 5,756,352 (GRCm39)	V193I	probably benign	Het
Kcnt1	G	T	2: 25,799,334 (GRCm39)		probably benign	Het
Kif13b	T	G	14: 64,994,902 (GRCm39)	C885G	probably benign	Het
Kif21b	C	A	1: 136,090,838 (GRCm39)	D1215E	probably benign	Het
Klhdc2	A	G	12: 69,343,736 (GRCm39)		probably benign	Het
Kmt2d	G	A	15: 98,745,075 (GRCm39)		probably benign	Het
Lama4	A	G	10: 38,924,050 (GRCm39)	N486S	probably benign	Het
Ldah	G	A	12: 8,277,237 (GRCm39)	A58T	probably benign	Het
Lrrc24	T	C	15: 76,600,200 (GRCm39)	Q313R	probably benign	Het
Luzp1	A	G	4: 136,270,708 (GRCm39)	D977G	possibly damaging	Het
Meak7	A	C	8: 120,494,882 (GRCm39)	L292R	probably damaging	Het
Mrgpra4	A	G	7: 47,631,466 (GRCm39)	L45P	probably damaging	Het
Mrps28	C	T	3: 8,988,756 (GRCm39)	G34D	possibly damaging	Het
Myh8	A	G	11: 67,189,184 (GRCm39)	E1120G	probably damaging	Het
Myt1l	A	G	12: 29,882,302 (GRCm39)	E499G	unknown	Het
Ncan	C	T	8: 70,567,675 (GRCm39)	E146K	probably damaging	Het
Nlgn1	A	T	3: 25,487,958 (GRCm39)	D763E	probably damaging	Het
Or11g26	T	C	14: 50,752,966 (GRCm39)	F102L	probably benign	Het
Or13c7c	G	T	4: 43,836,433 (GRCm39)	A19D	probably benign	Het
Or1e17	A	T	11: 73,831,378 (GRCm39)	Y102F	possibly damaging	Het
Or4c12	A	T	2: 89,774,147 (GRCm39)	I104N	possibly damaging	Het
Or5b118	C	T	19: 13,448,910 (GRCm39)	T192I	probably benign	Het
Or6c8b	T	A	10: 128,882,711 (GRCm39)	I74F	possibly damaging	Het
Pak6	A	T	2: 118,525,029 (GRCm39)	I552F	probably damaging	Het
Pcbp1	G	A	6: 86,501,897 (GRCm39)	A334V	probably damaging	Het
Pclaf	T	C	9: 65,798,062 (GRCm39)	V32A	probably benign	Het
Pga5	T	A	19: 10,654,053 (GRCm39)	H50L	probably benign	Het
Phyhipl	A	T	10: 70,404,904 (GRCm39)	D56E	probably damaging	Het
Pik3ap1	C	T	19: 41,270,415 (GRCm39)	R758H	probably benign	Het
Plekha1	A	G	7: 130,507,094 (GRCm39)		probably benign	Het
Plekhm1	A	T	11: 103,278,141 (GRCm39)	N318K	possibly damaging	Het
Ppargc1b	G	A	18: 61,440,725 (GRCm39)	A731V	probably benign	Het
Pptc7	T	C	5: 122,451,844 (GRCm39)	V100A	possibly damaging	Het
Prl7a1	A	T	13: 27,817,564 (GRCm39)	H233Q	possibly damaging	Het
Prpf40a	A	G	2: 53,034,861 (GRCm39)	F776L	probably damaging	Het
Prrc2c	T	C	1: 162,533,009 (GRCm39)		probably benign	Het
Psmb1	T	C	17: 15,718,524 (GRCm39)	M1V	probably null	Het
Ptpn3	A	G	4: 57,218,513 (GRCm39)	F650S	possibly damaging	Het
Ranbp17	A	T	11: 33,354,181 (GRCm39)	*577R	probably null	Het
Reln	T	A	5: 22,176,868 (GRCm39)	N1933Y	probably benign	Het
Rgl2	T	A	17: 34,156,094 (GRCm39)	H727Q	probably benign	Het
Rhpn2	A	G	7: 35,070,549 (GRCm39)	T160A	probably damaging	Het
Rlf	G	A	4: 121,004,652 (GRCm39)	H1443Y	probably damaging	Het
Rpgrip1l	T	C	8: 92,007,444 (GRCm39)	E382G	probably damaging	Het
Rxrb	T	C	17: 34,252,562 (GRCm39)	S50P	probably benign	Het
Scn4b	A	T	9: 45,059,056 (GRCm39)	E109V	probably damaging	Het
Scrib	C	T	15: 75,923,602 (GRCm39)		probably null	Het
Slc22a29	A	T	19: 8,195,194 (GRCm39)	V147D	probably damaging	Het
Slc4a4	A	T	5: 89,102,721 (GRCm39)	E53V	probably null	Het
Slx4	A	G	16: 3,819,063 (GRCm39)	S37P	possibly damaging	Het
Spag9	G	A	11: 94,013,548 (GRCm39)	G1127D	probably damaging	Het
Srek1	T	A	13: 103,889,064 (GRCm39)		probably benign	Het
Supt5	G	T	7: 28,015,795 (GRCm39)	P849Q	probably damaging	Het
Tex14	T	C	11: 87,324,639 (GRCm39)	S2P	probably damaging	Het
Them7	A	G	2: 105,209,153 (GRCm39)	T158A	probably benign	Het
Tll2	A	G	19: 41,118,948 (GRCm39)	V260A	possibly damaging	Het
Tlr6	A	G	5: 65,111,644 (GRCm39)	V421A	probably benign	Het
Tmc3	T	G	7: 83,264,218 (GRCm39)	C649G	probably damaging	Het
Tnn	A	G	1: 159,948,122 (GRCm39)	W864R	probably damaging	Het
Tsc2	A	C	17: 24,822,254 (GRCm39)	V1095G	probably benign	Het
Vmn1r124	C	T	7: 20,994,172 (GRCm39)	G124D	probably damaging	Het
Vmn2r116	T	C	17: 23,606,138 (GRCm39)	V350A	probably benign	Het
Vps13d	A	G	4: 144,832,468 (GRCm39)	S2813P	possibly damaging	Het
Wrap53	T	A	11: 69,454,758 (GRCm39)	M204L	possibly damaging	Het
Zfp277	A	G	12: 40,378,687 (GRCm39)	V390A	possibly damaging	Het
Zfp687	A	T	3: 94,918,987 (GRCm39)	S262T	probably benign	Het
Zfp831	T	A	2: 174,547,103 (GRCm39)	S1429T	probably benign	Het
Znfx1	G	A	2: 166,907,307 (GRCm39)		probably benign	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
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
R7793:Gabbr1	UTSW	17	37,358,393 (GRCm39)	missense	probably benign	0.13
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'- TCTGATAGGAATGTGAATACTGGG -3'
(R):5'- AACCAAGTCTGAGGCAGGTG -3'

Sequencing Primer
(F):5'- TAGGGCTGGGGAGAACG -3'
(R):5'- GTGGTGTAAAGATAGGTTTCACC -3'

Posted On

2016-06-15