Mutagenetix > Incidental Mutation

Incidental Mutation 'R3498:Gnb1'

273648

Institutional Source

Beutler Lab

Gene Symbol

Gnb1

Ensembl Gene

ENSMUSG00000029064

Gene Name

guanine nucleotide binding protein (G protein), beta 1

Synonyms

MMRRC Submission

040661-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3498 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

155491361-155559269 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 155555026 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 237 (N237K)

Ref Sequence

ENSEMBL: ENSMUSP00000135492 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030940] [ENSMUST00000105616] [ENSMUST00000165335] [ENSMUST00000176637] [ENSMUST00000177094]

AlphaFold

P62874

Predicted Effect

probably benign
Transcript: ENSMUST00000030940
AA Change: N237K

PolyPhen 2 Score 0.345 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000030940
Gene: ENSMUSG00000029064
AA Change: N237K

Domain	Start	End	E-Value	Type
WD40	44	83	1.05e-7	SMART
WD40	86	125	1.06e-3	SMART
WD40	132	170	1.93e-6	SMART
WD40	173	212	1.23e-8	SMART
WD40	215	254	5.06e-10	SMART
WD40	257	298	1.88e-4	SMART
WD40	301	340	3.55e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105616
AA Change: N237K

PolyPhen 2 Score 0.345 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000101241
Gene: ENSMUSG00000029064
AA Change: N237K

Domain	Start	End	E-Value	Type
WD40	44	83	1.05e-7	SMART
WD40	86	125	1.06e-3	SMART
WD40	132	170	1.93e-6	SMART
WD40	173	212	1.23e-8	SMART
WD40	215	254	5.06e-10	SMART
WD40	257	298	1.88e-4	SMART
WD40	301	340	3.55e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165335
AA Change: N237K

PolyPhen 2 Score 0.345 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000130123
Gene: ENSMUSG00000029064
AA Change: N237K

Domain	Start	End	E-Value	Type
WD40	44	83	1.05e-7	SMART
WD40	86	125	1.06e-3	SMART
WD40	132	170	1.93e-6	SMART
WD40	173	212	1.23e-8	SMART
WD40	215	254	5.06e-10	SMART
WD40	257	298	1.88e-4	SMART
WD40	301	340	3.55e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175705

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176308

Predicted Effect

probably benign
Transcript: ENSMUST00000176637
AA Change: N237K

PolyPhen 2 Score 0.345 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000135091
Gene: ENSMUSG00000029064
AA Change: N237K

Domain	Start	End	E-Value	Type
WD40	44	83	1.05e-7	SMART
WD40	86	125	1.06e-3	SMART
WD40	132	170	1.93e-6	SMART
WD40	173	212	1.23e-8	SMART
WD40	215	254	5.06e-10	SMART
WD40	257	298	1.88e-4	SMART
WD40	301	340	3.55e-5	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000177094
AA Change: N237K

PolyPhen 2 Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000135492
Gene: ENSMUSG00000029064
AA Change: N237K

Domain	Start	End	E-Value	Type
WD40	44	83	1.05e-7	SMART
WD40	86	125	1.06e-3	SMART
WD40	132	170	1.93e-6	SMART
WD40	173	212	1.23e-8	SMART
WD40	215	254	5.06e-10	SMART

Meta Mutation Damage Score

0.1720

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (43/43)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
PHENOTYPE: Heterozygous null mice have an abnormal retina morphology with progressive degeneration. Mice homozygous for a mutation of this gene show prenatal or perinatal lethality with exencephaly and/or small brain. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001C19Rik	AC	A	17: 47,433,423		probably benign	Het
A3galt2	T	C	4: 128,755,557	F6L	probably benign	Het
Aurkc	A	G	7: 7,000,030	I175V	probably damaging	Het
Azi2	A	G	9: 118,049,407	D105G	probably damaging	Het
Bcat1	A	G	6: 145,019,342	V45A	probably damaging	Het
Cass4	C	T	2: 172,432,558	P753L	probably damaging	Het
Ddx42	A	G	11: 106,231,193	E178G	possibly damaging	Het
Dmpk	T	C	7: 19,086,381	I101T	probably damaging	Het
Dnah17	C	T	11: 118,080,849		probably benign	Het
Fosb	C	T	7: 19,306,632	R161H	probably damaging	Het
Gm6729	T	C	10: 86,540,718		noncoding transcript	Het
Gpr35	A	G	1: 92,983,391	Y275C	probably damaging	Het
Hmcn1	A	T	1: 150,605,102	I4441N	probably damaging	Het
Ighe	G	A	12: 113,271,374	Q389*	probably null	Het
Kcnj11	T	C	7: 46,099,602	D23G	probably damaging	Het
Lats2	G	T	14: 57,722,466	A191E	possibly damaging	Het
Lyplal1	A	G	1: 186,088,660	S197P	possibly damaging	Het
Map4	G	T	9: 110,035,212	V502L	probably benign	Het
Mgat5	A	G	1: 127,384,834	M237V	possibly damaging	Het
Mindy4	A	G	6: 55,216,525	R68G	probably benign	Het
Nell1	T	A	7: 50,258,179	V362E	possibly damaging	Het
Olfr1031	T	A	2: 85,992,430	F204L	probably benign	Het
Olfr792	T	A	10: 129,540,909	I124N	probably damaging	Het
P4ha2	T	C	11: 54,119,253	Y279H	probably benign	Het
Pcid2	A	G	8: 13,100,413	V13A	possibly damaging	Het
Polr2j	T	C	5: 136,122,770	I116T	probably benign	Het
Prdm9	A	G	17: 15,562,945		probably benign	Het
Prr5	T	A	15: 84,703,144	V365E	probably benign	Het
Ptprf	A	T	4: 118,224,930	I1037N	probably damaging	Het
Ranbp17	GCCTGGATACTGACC	GCC	11: 33,219,203		probably benign	Het
Sde2	T	A	1: 180,858,185	C101S	probably damaging	Het
Sec1	T	C	7: 45,679,239	H128R	probably damaging	Het
Serpinb6a	A	T	13: 33,918,781	M253K	probably damaging	Het
Slc1a4	A	T	11: 20,313,973	I248N	probably damaging	Het
Slc22a4	T	G	11: 53,992,053	K328N	probably benign	Het
Slc24a4	A	T	12: 102,234,692	K278N	probably benign	Het
Slc6a21	T	A	7: 45,280,842	W222R	probably damaging	Het
Slc7a2	A	G	8: 40,912,530	E466G	probably benign	Het
Sspo	A	G	6: 48,467,980	T2133A	possibly damaging	Het
Taco1	A	G	11: 106,072,538	M172V	probably benign	Het
Tmem127	T	A	2: 127,256,120	H36Q	probably benign	Het
Tmem229b-ps	C	T	10: 53,475,127		noncoding transcript	Het
Vac14	A	G	8: 110,671,090	D479G	probably benign	Het
Vmn1r176	T	A	7: 23,835,242	K162I	probably benign	Het

Other mutations in Gnb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01405:Gnb1	APN	4	155543188	missense	probably damaging	1.00
IGL02052:Gnb1	APN	4	155533691	splice site	probably benign
IGL02164:Gnb1	APN	4	155557174	splice site	probably null
IGL02470:Gnb1	APN	4	155527513	splice site	probably benign
IGL02928:Gnb1	APN	4	155553406	missense	probably benign
IGL03293:Gnb1	APN	4	155540547	splice site	probably benign
R0034:Gnb1	UTSW	4	155551689	missense	probably benign	0.03
R0325:Gnb1	UTSW	4	155551683	missense	probably benign	0.21
R1538:Gnb1	UTSW	4	155551714	missense	probably benign	0.00
R4177:Gnb1	UTSW	4	155540656	intron	probably benign
R4746:Gnb1	UTSW	4	155543074	missense	probably damaging	1.00
R4833:Gnb1	UTSW	4	155543067	missense	possibly damaging	0.57
R5727:Gnb1	UTSW	4	155555102	missense	probably benign	0.00
R6958:Gnb1	UTSW	4	155543194	critical splice donor site	probably null
R7022:Gnb1	UTSW	4	155553456	missense	probably damaging	1.00
R8321:Gnb1	UTSW	4	155555025	missense	possibly damaging	0.83
R9217:Gnb1	UTSW	4	155540576	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGACCTTGAATTCACTATGTGCCTG -3'
(R):5'- GCTTTGAGTGCATCCCAGAC -3'

Sequencing Primer
(F):5'- CTGAAGGCTGTGTACTCTATTCCATG -3'
(R):5'- GAGTGCATCCCAGACATTACAGTTG -3'

Posted On

2015-04-02