Mutagenetix > Incidental Mutation

Incidental Mutation 'R2336:Gnb2'

246547

Institutional Source

Beutler Lab

Gene Symbol

Gnb2

Ensembl Gene

ENSMUSG00000029713

Gene Name

guanine nucleotide binding protein (G protein), beta 2

Synonyms

MMRRC Submission

040323-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2336 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

137526389-137531772 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 137527460 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 125 (W125R)

Ref Sequence

ENSEMBL: ENSMUSP00000128038 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031726] [ENSMUST00000031727] [ENSMUST00000111020] [ENSMUST00000111023] [ENSMUST00000111027] [ENSMUST00000111038] [ENSMUST00000143495] [ENSMUST00000168746] [ENSMUST00000132525] [ENSMUST00000140139] [ENSMUST00000150063] [ENSMUST00000170293]

AlphaFold

P62880

Predicted Effect

probably damaging
Transcript: ENSMUST00000031726
AA Change: W169R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031726
Gene: ENSMUSG00000029713
AA Change: W169R

Domain	Start	End	E-Value	Type
low complexity region	3	17	N/A	INTRINSIC
WD40	44	83	1.05e-7	SMART
WD40	86	125	3.96e-3	SMART
WD40	132	170	1.57e-6	SMART
WD40	173	212	2.98e-7	SMART
WD40	215	254	2.1e-7	SMART
WD40	257	298	1.72e-3	SMART
WD40	301	340	2.04e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000031727

SMART Domains

Protein: ENSMUSP00000031727
Gene: ENSMUSG00000029714

Domain	Start	End	E-Value	Type
low complexity region	17	32	N/A	INTRINSIC
low complexity region	69	87	N/A	INTRINSIC
low complexity region	114	129	N/A	INTRINSIC
low complexity region	253	269	N/A	INTRINSIC
low complexity region	323	352	N/A	INTRINSIC
low complexity region	360	379	N/A	INTRINSIC
coiled coil region	424	450	N/A	INTRINSIC
GYF	477	532	1.6e-25	SMART
low complexity region	534	543	N/A	INTRINSIC
low complexity region	553	576	N/A	INTRINSIC
low complexity region	597	613	N/A	INTRINSIC
coiled coil region	671	735	N/A	INTRINSIC
low complexity region	748	759	N/A	INTRINSIC
low complexity region	826	837	N/A	INTRINSIC
low complexity region	848	877	N/A	INTRINSIC
low complexity region	881	893	N/A	INTRINSIC
coiled coil region	957	984	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111020
AA Change: W125R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106649
Gene: ENSMUSG00000029713
AA Change: W125R

Domain	Start	End	E-Value	Type
WD40	1	39	2.65e-4	SMART
WD40	42	81	3.96e-3	SMART
WD40	88	126	1.57e-6	SMART
WD40	129	168	2.98e-7	SMART
WD40	171	210	2.1e-7	SMART
WD40	213	254	1.72e-3	SMART
WD40	257	296	2.04e-5	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111023
AA Change: W125R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106652
Gene: ENSMUSG00000029713
AA Change: W125R

Domain	Start	End	E-Value	Type
WD40	1	39	2.65e-4	SMART
WD40	42	81	3.96e-3	SMART
WD40	88	126	1.57e-6	SMART
WD40	129	168	2.98e-7	SMART
WD40	171	210	2.1e-7	SMART
WD40	213	254	1.72e-3	SMART
WD40	257	296	2.04e-5	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111027
AA Change: W211R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106656
Gene: ENSMUSG00000029713
AA Change: W211R

Domain	Start	End	E-Value	Type
low complexity region	23	41	N/A	INTRINSIC
low complexity region	45	59	N/A	INTRINSIC
WD40	86	125	1.05e-7	SMART
WD40	128	167	3.96e-3	SMART
WD40	174	212	1.57e-6	SMART
WD40	215	254	2.98e-7	SMART
WD40	257	296	2.1e-7	SMART
WD40	299	340	1.72e-3	SMART
WD40	343	382	2.04e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111038

SMART Domains

Protein: ENSMUSP00000106667
Gene: ENSMUSG00000029711

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:EPO_TPO	30	191	2.8e-69	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125868

Predicted Effect

probably damaging
Transcript: ENSMUST00000143495
AA Change: W69R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126823
Gene: ENSMUSG00000029713
AA Change: W69R

Domain	Start	End	E-Value	Type
Pfam:WD40	1	25	3.8e-3	PFAM
WD40	32	70	1.57e-6	SMART
WD40	73	112	2.98e-7	SMART
WD40	115	154	2.1e-7	SMART
WD40	157	198	1.72e-3	SMART
WD40	201	240	2.04e-5	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000168746
AA Change: W69R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132908
Gene: ENSMUSG00000029713
AA Change: W69R

Domain	Start	End	E-Value	Type
Pfam:WD40	1	25	3.8e-3	PFAM
WD40	32	70	1.57e-6	SMART
WD40	73	112	2.98e-7	SMART
WD40	115	154	2.1e-7	SMART
WD40	157	198	1.72e-3	SMART
WD40	201	240	2.04e-5	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000132525
AA Change: W169R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119725
Gene: ENSMUSG00000029713
AA Change: W169R

Domain	Start	End	E-Value	Type
low complexity region	3	17	N/A	INTRINSIC
WD40	44	83	1.05e-7	SMART
WD40	86	125	3.96e-3	SMART
WD40	132	170	1.57e-6	SMART
WD40	173	212	2.98e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000140139
AA Change: W169R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121942
Gene: ENSMUSG00000029713
AA Change: W169R

Domain	Start	End	E-Value	Type
low complexity region	3	17	N/A	INTRINSIC
WD40	44	83	1.05e-7	SMART
WD40	86	125	3.96e-3	SMART
WD40	132	170	1.57e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000150063
AA Change: W169R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129353
Gene: ENSMUSG00000029713
AA Change: W169R

Domain	Start	End	E-Value	Type
low complexity region	3	17	N/A	INTRINSIC
WD40	44	83	1.05e-7	SMART
WD40	86	125	3.96e-3	SMART
WD40	132	170	1.57e-6	SMART
WD40	173	212	2.98e-7	SMART
WD40	215	254	2.1e-7	SMART
WD40	257	298	1.72e-3	SMART
WD40	301	340	2.04e-5	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000170293
AA Change: W125R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128038
Gene: ENSMUSG00000029713
AA Change: W125R

Domain	Start	End	E-Value	Type
WD40	1	39	2.65e-4	SMART
WD40	42	81	3.96e-3	SMART
WD40	88	126	1.57e-6	SMART
WD40	129	168	2.98e-7	SMART
WD40	171	210	2.1e-7	SMART
WD40	213	254	1.72e-3	SMART
WD40	257	296	2.04e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163194

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185075

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142252

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144667

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145238

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167225

Meta Mutation Damage Score

0.9746

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.2%

Validation Efficiency

100% (38/38)

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. This gene contains a trinucleotide (CCG) repeat length polymorphism in its 5' UTR. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430110L20Rik	T	A	1: 181,055,206 (GRCm39)		noncoding transcript	Het
Arhgap21	G	A	2: 20,884,862 (GRCm39)	R772C	probably damaging	Het
Arid2	A	G	15: 96,260,430 (GRCm39)	E393G	probably damaging	Het
Atrn	C	T	2: 130,799,874 (GRCm39)	T417I	probably damaging	Het
Baiap3	T	C	17: 25,469,378 (GRCm39)	K173R	probably damaging	Het
Bdp1	A	T	13: 100,189,510 (GRCm39)	N1497K	probably damaging	Het
Ceacam5	T	C	7: 17,481,300 (GRCm39)	V349A	probably benign	Het
Chrnd	T	C	1: 87,122,615 (GRCm39)	F132S	probably damaging	Het
Ddx42	A	G	11: 106,121,976 (GRCm39)	M164V	possibly damaging	Het
Dtwd2	A	G	18: 49,833,320 (GRCm39)		probably benign	Het
Eprs1	T	A	1: 185,143,571 (GRCm39)		probably benign	Het
Fut8	A	G	12: 77,459,730 (GRCm39)		probably benign	Het
Gabrr3	C	T	16: 59,250,313 (GRCm39)	T104M	probably damaging	Het
Gcat	G	A	15: 78,915,180 (GRCm39)	R16H	probably benign	Het
Grik4	C	T	9: 42,477,651 (GRCm39)	D512N	probably damaging	Het
Hnf4g	T	C	3: 3,706,284 (GRCm39)	F60L	probably benign	Het
Lrp6	A	G	6: 134,484,546 (GRCm39)	I359T	probably damaging	Het
Lrrfip2	A	G	9: 111,051,283 (GRCm39)	D325G	probably damaging	Het
Mttp	A	T	3: 137,821,856 (GRCm39)	I222K	possibly damaging	Het
Myom1	A	T	17: 71,330,189 (GRCm39)	H107L	possibly damaging	Het
Obi1	G	A	14: 104,716,318 (GRCm39)	P685L	probably damaging	Het
Or10al4	A	T	17: 38,037,689 (GRCm39)	Y258F	probably benign	Het
Or2r11	A	G	6: 42,437,663 (GRCm39)	C97R	probably damaging	Het
Ppfia3	T	C	7: 45,006,121 (GRCm39)		probably null	Het
Prokr2	A	T	2: 132,223,359 (GRCm39)	M61K	probably damaging	Het
Ptk2	A	G	15: 73,137,965 (GRCm39)	C502R	probably damaging	Het
Rbm25	T	A	12: 83,698,192 (GRCm39)	W172R	probably damaging	Het
Rdh16f1	A	G	10: 127,624,624 (GRCm39)	K154R	probably benign	Het
Rnf213	G	A	11: 119,305,430 (GRCm39)	E554K	probably benign	Het
St3gal6	A	T	16: 58,314,067 (GRCm39)	I22K	probably damaging	Het
Tut7	G	T	13: 59,946,868 (GRCm39)	P585Q	probably damaging	Het
Usp43	G	A	11: 67,782,258 (GRCm39)	R387*	probably null	Het
Vmn2r106	T	C	17: 20,488,470 (GRCm39)	N643S	probably benign	Het
Zdbf2	G	T	1: 63,342,623 (GRCm39)	R334L	probably benign	Het
Zfp868	G	T	8: 70,066,558 (GRCm39)		probably null	Het

Other mutations in Gnb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Gnb2	APN	5	137,528,968 (GRCm39)	intron	probably benign
ruffian	UTSW	5	137,528,444 (GRCm39)	critical splice donor site	probably null
R4661:Gnb2	UTSW	5	137,528,515 (GRCm39)	start codon destroyed	probably null	0.30
R5023:Gnb2	UTSW	5	137,528,202 (GRCm39)	splice site	probably null
R5395:Gnb2	UTSW	5	137,526,788 (GRCm39)	missense	probably damaging	1.00
R5465:Gnb2	UTSW	5	137,526,775 (GRCm39)	missense	probably damaging	1.00
R5633:Gnb2	UTSW	5	137,527,454 (GRCm39)	missense	probably benign	0.12
R5794:Gnb2	UTSW	5	137,526,961 (GRCm39)	missense	probably benign	0.03
R7107:Gnb2	UTSW	5	137,528,444 (GRCm39)	critical splice donor site	probably null
R8406:Gnb2	UTSW	5	137,526,865 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGCAAGATTTGGGCCAGAG -3'
(R):5'- GCACACTTCTGAGCACCTAGTC -3'

Sequencing Primer
(F):5'- TTACAGCCACGGCATTGATG -3'
(R):5'- AGTCTTCCCCTCTGCATGGTG -3'

Posted On

2014-10-30