Mutagenetix > Incidental Mutation

Incidental Mutation 'R0747:Gnb5'

70191

Institutional Source

Beutler Lab

Gene Symbol

Gnb5

Ensembl Gene

ENSMUSG00000032192

Gene Name

guanine nucleotide binding protein (G protein), beta 5

Synonyms

Gbeta5, G beta 5

MMRRC Submission

038928-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.199) question?

Stock #

R0747 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75213570-75253158 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 75218752 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 26 (V26I)

Ref Sequence

ENSEMBL: ENSMUSP00000149938 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076889] [ENSMUST00000213990] [ENSMUST00000215002] [ENSMUST00000215875]

AlphaFold

P62881

Predicted Effect

probably benign
Transcript: ENSMUST00000076889
AA Change: V26I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000076155
Gene: ENSMUSG00000032192
AA Change: V26I

Domain	Start	End	E-Value	Type
WD40	94	133	3.52e-9	SMART
WD40	136	175	9.94e-1	SMART
WD40	184	223	9.9e-4	SMART
WD40	226	267	2.42e-7	SMART
WD40	270	309	1.99e-8	SMART
WD40	312	353	5.97e-1	SMART
WD40	356	395	6.04e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000213990
AA Change: V26I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000215002

Predicted Effect

probably benign
Transcript: ENSMUST00000215875

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216737

Meta Mutation Damage Score

0.0865

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 94.8%

Validation Efficiency

100% (50/50)

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. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation are runty and exhibit high preweaning mortality. Survivors are apparently normal, but show prolonged photoresponses and defective adaptation in rod cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	A	T	11: 46,009,322 (GRCm39)		probably null	Het
Anks4b	C	T	7: 119,781,386 (GRCm39)	A139V	probably damaging	Het
Arf1	G	A	11: 59,103,461 (GRCm39)	R149C	probably benign	Het
Axl	A	T	7: 25,463,484 (GRCm39)	C598S	possibly damaging	Het
B3gnt2	T	C	11: 22,786,316 (GRCm39)	I291V	possibly damaging	Het
Ccdc158	T	A	5: 92,781,156 (GRCm39)	H883L	probably benign	Het
Cep15	T	A	14: 12,287,287 (GRCm38)	M16K	probably benign	Het
Col6a3	A	G	1: 90,730,375 (GRCm39)	S1644P	probably damaging	Het
Cspg4	T	C	9: 56,797,564 (GRCm39)	S1343P	probably damaging	Het
D430041D05Rik	G	T	2: 104,060,651 (GRCm39)	H1414Q	probably damaging	Het
Dnah5	C	G	15: 28,444,332 (GRCm39)	I4043M	probably damaging	Het
Dnah5	T	A	15: 28,444,333 (GRCm39)	C4044S	possibly damaging	Het
Dpep3	C	T	8: 106,704,018 (GRCm39)	A267T	probably benign	Het
Dync1h1	A	C	12: 110,578,845 (GRCm39)	H106P	probably benign	Het
Dync1h1	A	C	12: 110,595,718 (GRCm39)	E1466A	probably damaging	Het
Fggy	T	C	4: 95,700,337 (GRCm39)		probably benign	Het
Frmd6	A	G	12: 70,910,830 (GRCm39)	T5A	probably benign	Het
Hephl1	A	T	9: 14,965,297 (GRCm39)		probably benign	Het
Hmmr	C	T	11: 40,612,572 (GRCm39)		probably benign	Het
Hpn	A	T	7: 30,798,971 (GRCm39)	F356Y	probably damaging	Het
Iqgap3	T	C	3: 88,014,810 (GRCm39)		probably benign	Het
Ism2	A	G	12: 87,332,172 (GRCm39)		probably benign	Het
Kansl1	T	A	11: 104,233,802 (GRCm39)	M754L	probably benign	Het
Kcnc4	A	T	3: 107,355,470 (GRCm39)	I326N	probably damaging	Het
Lcn6	G	A	2: 25,567,184 (GRCm39)	V62M	probably damaging	Het
Lrp1b	A	T	2: 40,760,353 (GRCm39)	C2858S	probably damaging	Het
Lyn	G	A	4: 3,745,638 (GRCm39)		probably benign	Het
Mov10	T	A	3: 104,709,812 (GRCm39)	H358L	probably benign	Het
Notch1	A	G	2: 26,362,152 (GRCm39)	V60A	unknown	Het
Or2t6	C	T	14: 14,175,429 (GRCm38)	A218T	probably benign	Het
Pgap2	C	A	7: 101,886,343 (GRCm39)	Y176*	probably null	Het
Pglyrp1	A	G	7: 18,624,200 (GRCm39)	Q161R	possibly damaging	Het
Plod3	A	G	5: 137,017,049 (GRCm39)	N66S	probably benign	Het
Psmc3	A	G	2: 90,884,645 (GRCm39)	E18G	probably benign	Het
Psme3	T	G	11: 101,207,872 (GRCm39)	M9R	probably benign	Het
Rapgef4	A	G	2: 72,053,417 (GRCm39)	N428S	possibly damaging	Het
Rbp3	A	G	14: 33,678,235 (GRCm39)	I728V	possibly damaging	Het
Sall4	A	T	2: 168,596,886 (GRCm39)	H651Q	probably damaging	Het
Skint3	T	A	4: 112,111,102 (GRCm39)	Y76N	probably damaging	Het
Slc13a4	T	C	6: 35,255,263 (GRCm39)	T342A	probably damaging	Het
Slc25a1	G	T	16: 17,744,084 (GRCm39)	T239K	probably damaging	Het
Slc36a2	T	A	11: 55,060,685 (GRCm39)	I242F	probably benign	Het
Tekt2	G	A	4: 126,217,553 (GRCm39)	Q171*	probably null	Het
Tet2	T	G	3: 133,173,231 (GRCm39)	H1677P	possibly damaging	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Trcg1	C	T	9: 57,149,204 (GRCm39)	P259S	probably benign	Het
Ttn	A	C	2: 76,540,942 (GRCm39)	S25688A	probably damaging	Het
Vmn2r117	T	A	17: 23,694,477 (GRCm39)	R457*	probably null	Het
Zbbx	C	T	3: 75,062,734 (GRCm39)	V8I	probably damaging	Het

Other mutations in Gnb5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02937:Gnb5	APN	9	75,247,471 (GRCm39)	missense	probably damaging	1.00
R0080:Gnb5	UTSW	9	75,221,636 (GRCm39)	missense	possibly damaging	0.92
R0961:Gnb5	UTSW	9	75,242,933 (GRCm39)	missense	probably damaging	0.98
R1970:Gnb5	UTSW	9	75,251,932 (GRCm39)	splice site	probably null
R2196:Gnb5	UTSW	9	75,234,511 (GRCm39)	missense	probably damaging	0.99
R2850:Gnb5	UTSW	9	75,234,511 (GRCm39)	missense	probably damaging	0.99
R4577:Gnb5	UTSW	9	75,250,823 (GRCm39)	missense	possibly damaging	0.51
R5633:Gnb5	UTSW	9	75,251,796 (GRCm39)	missense	probably damaging	1.00
R5682:Gnb5	UTSW	9	75,234,523 (GRCm39)	missense	probably damaging	0.96
R7310:Gnb5	UTSW	9	75,221,570 (GRCm39)	missense	probably benign
R7651:Gnb5	UTSW	9	75,250,853 (GRCm39)	missense	probably damaging	1.00
R8055:Gnb5	UTSW	9	75,250,826 (GRCm39)	missense	probably benign	0.35
R8925:Gnb5	UTSW	9	75,252,236 (GRCm39)	missense	possibly damaging	0.57
R8927:Gnb5	UTSW	9	75,252,236 (GRCm39)	missense	possibly damaging	0.57
R8996:Gnb5	UTSW	9	75,251,805 (GRCm39)	missense	probably benign	0.30
R9408:Gnb5	UTSW	9	75,218,696 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GGCTTCCTTGTGGATGCAATGAAC -3'
(R):5'- TGCCCAGGATAGCATGTAGTCCAG -3'

Sequencing Primer
(F):5'- AGAAGTCAGCACTCACTGTG -3'
(R):5'- GACATCAGAGTCTTCCTAGAGCTTG -3'

Posted On

2013-09-30