Mutagenetix > Incidental Mutation

Incidental Mutation 'R7681:Gnb4'

592743

Institutional Source

Beutler Lab

Gene Symbol

Gnb4

Ensembl Gene

ENSMUSG00000027669

Gene Name

guanine nucleotide binding protein (G protein), beta 4

Synonyms

6720453A21Rik

MMRRC Submission

045747-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7681 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32634481-32670734 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 32641902 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 242 (A242S)

Ref Sequence

ENSEMBL: ENSMUSP00000103869 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108234] [ENSMUST00000155737] [ENSMUST00000184130] [ENSMUST00000193050]

AlphaFold

P29387

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108234
AA Change: A242S

PolyPhen 2 Score 0.515 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000103869
Gene: ENSMUSG00000027669
AA Change: A242S

Domain	Start	End	E-Value	Type
low complexity region	3	17	N/A	INTRINSIC
WD40	44	83	2.26e-7	SMART
WD40	86	125	3.22e-3	SMART
WD40	132	170	1.11e-6	SMART
WD40	173	212	1.96e-7	SMART
WD40	215	254	9.16e-8	SMART
WD40	257	298	2.8e-3	SMART
WD40	301	340	1.44e-5	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000155737
AA Change: A242S

PolyPhen 2 Score 0.515 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000121127
Gene: ENSMUSG00000027669
AA Change: A242S

Domain	Start	End	E-Value	Type
low complexity region	3	17	N/A	INTRINSIC
WD40	44	83	2.26e-7	SMART
WD40	86	125	3.22e-3	SMART
WD40	132	170	1.11e-6	SMART
WD40	173	212	1.96e-7	SMART
WD40	215	254	9.16e-8	SMART
WD40	257	298	2.8e-3	SMART
WD40	301	340	1.44e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000184130

SMART Domains

Protein: ENSMUSP00000138886
Gene: ENSMUSG00000027669

Domain	Start	End	E-Value	Type
coiled coil region	1	33	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000193050

SMART Domains

Protein: ENSMUSP00000141196
Gene: ENSMUSG00000027669

Domain	Start	End	E-Value	Type
low complexity region	3	17	N/A	INTRINSIC
PDB:4KFM\|B	18	68	8e-24	PDB
SCOP:d1g72a_	36	68	4e-3	SMART
Blast:WD40	44	72	2e-11	BLAST

Meta Mutation Damage Score

0.3703

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (58/60)

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. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	C	T	5: 8,899,619 (GRCm39)	A963V	probably benign	Het
Agbl1	T	C	7: 76,094,649 (GRCm39)	V760A	unknown	Het
Akap13	T	C	7: 75,378,544 (GRCm39)	F347L	possibly damaging	Het
Anapc5	A	T	5: 122,940,202 (GRCm39)	F356L	probably benign	Het
Bmp6	A	G	13: 38,530,171 (GRCm39)	H88R	probably damaging	Het
Cblb	C	A	16: 52,025,001 (GRCm39)	S921R	probably damaging	Het
Ccs	T	A	19: 4,882,858 (GRCm39)		probably null	Het
Cyp20a1	A	G	1: 60,392,192 (GRCm39)	T83A	probably benign	Het
Defa25	T	A	8: 21,574,535 (GRCm39)	D26E	probably benign	Het
Dmwd	T	A	7: 18,815,007 (GRCm39)	N552K	probably benign	Het
Dnah17	C	T	11: 117,916,012 (GRCm39)	V4297M	probably damaging	Het
Fam135a	A	T	1: 24,106,996 (GRCm39)	S47R	probably benign	Het
Fbxo41	A	T	6: 85,455,461 (GRCm39)	C574*	probably null	Het
Fgb	T	C	3: 82,957,139 (GRCm39)		probably benign	Het
Fgfr1	C	T	8: 26,045,677 (GRCm39)	T82I	probably damaging	Het
Fhod3	T	A	18: 25,123,095 (GRCm39)	L262M	probably damaging	Het
Galnt16	A	T	12: 80,637,413 (GRCm39)	Q380L	probably damaging	Het
Glp2r	C	T	11: 67,600,505 (GRCm39)	G448D	probably benign	Het
Golim4	T	C	3: 75,794,331 (GRCm39)		probably null	Het
Grik2	G	T	10: 49,120,476 (GRCm39)	N604K	probably damaging	Het
Hnf1b	T	G	11: 83,779,972 (GRCm39)	I435S	probably damaging	Het
Hoxa11	C	T	6: 52,222,099 (GRCm39)	G201S	probably benign	Het
Hpse	A	G	5: 100,839,257 (GRCm39)	S364P	possibly damaging	Het
Kif16b	A	T	2: 142,598,046 (GRCm39)	N525K	probably damaging	Het
Kif1a	A	T	1: 92,982,666 (GRCm39)	C704S	probably benign	Het
Limk2	A	G	11: 3,303,354 (GRCm39)	S322P	probably damaging	Het
Lrp1b	A	T	2: 40,765,011 (GRCm39)	C2938*	probably null	Het
Malrd1	A	G	2: 16,222,913 (GRCm39)	R2071G	unknown	Het
Man2a2	T	A	7: 80,001,497 (GRCm39)	I1137F	possibly damaging	Het
Map2k6	C	T	11: 110,388,729 (GRCm39)	R224*	probably null	Het
Map3k4	G	A	17: 12,537,430 (GRCm39)	P29L	unknown	Het
Morn5	A	T	2: 35,947,156 (GRCm39)	N145Y	possibly damaging	Het
Muc20	T	C	16: 32,613,989 (GRCm39)	T463A	probably benign	Het
Myh10	C	T	11: 68,662,762 (GRCm39)	T642I	probably damaging	Het
Myh14	C	A	7: 44,273,572 (GRCm39)	R1362L	possibly damaging	Het
Nup88	C	A	11: 70,860,711 (GRCm39)	V23L	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or13p8	A	G	4: 118,583,761 (GRCm39)	I106V	probably benign	Het
Or4c116	A	C	2: 88,941,935 (GRCm39)	V307G	probably benign	Het
Or5p56	T	C	7: 107,590,355 (GRCm39)	M261T	possibly damaging	Het
Pabpn1	T	C	14: 55,135,499 (GRCm39)	Y299H	probably damaging	Het
Pak4	T	C	7: 28,259,655 (GRCm39)	E514G	probably damaging	Het
Ppp1r12b	A	C	1: 134,793,673 (GRCm39)	S564A	probably benign	Het
Psmc2	T	C	5: 22,008,272 (GRCm39)		probably null	Het
Psme4	A	G	11: 30,741,975 (GRCm39)	Y146C	possibly damaging	Het
Rb1cc1	A	G	1: 6,310,547 (GRCm39)	D315G	probably damaging	Het
Rilpl1	A	G	5: 124,668,976 (GRCm39)	V24A	possibly damaging	Het
Rtel1	A	T	2: 180,964,187 (GRCm39)	H62L	probably damaging	Het
Ruvbl1	G	A	6: 88,444,635 (GRCm39)		probably null	Het
Scn5a	A	G	9: 119,359,043 (GRCm39)	V668A	probably benign	Het
Slc22a6	G	A	19: 8,603,493 (GRCm39)	G519E	probably benign	Het
Slc43a2	T	A	11: 75,454,499 (GRCm39)	I348N	probably benign	Het
Slc6a16	T	A	7: 44,910,338 (GRCm39)	L347Q	probably damaging	Het
Smg6	T	A	11: 74,822,531 (GRCm39)	L658H	probably damaging	Het
Spata31e4	C	T	13: 50,856,290 (GRCm39)	P643S	possibly damaging	Het
Spidr	C	A	16: 15,713,488 (GRCm39)	G832W	probably damaging	Het
Ssrp1	G	A	2: 84,876,092 (GRCm39)	G616E	probably benign	Het
Sult1b1	G	A	5: 87,678,495 (GRCm39)	L110F	probably damaging	Het
Tfec	T	A	6: 16,834,235 (GRCm39)	H224L	probably benign	Het
Ttn	C	T	2: 76,539,295 (GRCm39)	E34564K	probably benign	Het
Washc2	A	G	6: 116,237,618 (GRCm39)	D1285G	probably damaging	Het
Zfp870	T	C	17: 33,101,664 (GRCm39)	E555G	probably benign	Het

Other mutations in Gnb4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00962:Gnb4	APN	3	32,647,318 (GRCm39)	missense	probably benign	0.01
IGL02527:Gnb4	APN	3	32,644,015 (GRCm39)	missense	probably benign	0.01
IGL02589:Gnb4	APN	3	32,643,998 (GRCm39)	missense	probably damaging	1.00
IGL02640:Gnb4	APN	3	32,645,374 (GRCm39)	missense	probably benign	0.09
IGL02966:Gnb4	APN	3	32,639,372 (GRCm39)	missense	probably benign	0.19
IGL03225:Gnb4	APN	3	32,641,881 (GRCm39)	missense	probably damaging	0.98
IGL03248:Gnb4	APN	3	32,639,324 (GRCm39)	missense	probably damaging	1.00
R0619:Gnb4	UTSW	3	32,645,356 (GRCm39)	missense	probably benign	0.04
R0620:Gnb4	UTSW	3	32,645,356 (GRCm39)	missense	probably benign	0.04
R0621:Gnb4	UTSW	3	32,645,356 (GRCm39)	missense	probably benign	0.04
R1278:Gnb4	UTSW	3	32,641,886 (GRCm39)	missense	probably damaging	1.00
R1661:Gnb4	UTSW	3	32,644,188 (GRCm39)	nonsense	probably null
R1665:Gnb4	UTSW	3	32,644,188 (GRCm39)	nonsense	probably null
R1970:Gnb4	UTSW	3	32,652,290 (GRCm39)	missense	probably damaging	1.00
R4915:Gnb4	UTSW	3	32,639,236 (GRCm39)	utr 3 prime	probably benign
R5452:Gnb4	UTSW	3	32,643,994 (GRCm39)	missense	probably benign	0.06
R5618:Gnb4	UTSW	3	32,645,356 (GRCm39)	missense	probably benign	0.04
R6603:Gnb4	UTSW	3	32,639,295 (GRCm39)	missense	probably damaging	1.00
R7791:Gnb4	UTSW	3	32,644,192 (GRCm39)	missense	possibly damaging	0.84
R7822:Gnb4	UTSW	3	32,650,480 (GRCm39)	missense	probably damaging	1.00
R8221:Gnb4	UTSW	3	32,644,184 (GRCm39)	missense	possibly damaging	0.48

Predicted Primers

PCR Primer
(F):5'- CAAGAGGCATCAGTGTGTGG -3'
(R):5'- GGTTCGACTTTAAGCATCTCACC -3'

Sequencing Primer
(F):5'- GCCTAAAAACAGAGCCTGTCTTGG -3'
(R):5'- ACCTCCTACCCCAGGTGC -3'

Posted On

2019-11-12