Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00340:Gnb2'

6388

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gnb2

Ensembl Gene

ENSMUSG00000029713

Gene Name

guanine nucleotide binding protein (G protein), beta 2

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00340

Quality Score

Status

Chromosome

Chromosomal Location

137526389-137531772 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 137528968 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000128038 (fasta)

Gene Model

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

AlphaFold

P62880

Predicted Effect

unknown
Transcript: ENSMUST00000031726
AA Change: N16D

SMART Domains

Protein: ENSMUSP00000031726
Gene: ENSMUSG00000029713
AA Change: N16D

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 benign
Transcript: ENSMUST00000111020

SMART Domains

Protein: ENSMUSP00000106649
Gene: ENSMUSG00000029713

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 benign
Transcript: ENSMUST00000111023

SMART Domains

Protein: ENSMUSP00000106652
Gene: ENSMUSG00000029713

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

unknown
Transcript: ENSMUST00000111027
AA Change: N58D

SMART Domains

Protein: ENSMUSP00000106656
Gene: ENSMUSG00000029713
AA Change: N58D

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

unknown
Transcript: ENSMUST00000140139
AA Change: N16D

SMART Domains

Protein: ENSMUSP00000121942
Gene: ENSMUSG00000029713
AA Change: N16D

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

noncoding transcript
Transcript: ENSMUST00000142252

Predicted Effect

unknown
Transcript: ENSMUST00000150063
AA Change: N16D

SMART Domains

Protein: ENSMUSP00000129353
Gene: ENSMUSG00000029713
AA Change: N16D

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

unknown
Transcript: ENSMUST00000132525
AA Change: N16D

SMART Domains

Protein: ENSMUSP00000119725
Gene: ENSMUSG00000029713
AA Change: N16D

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

noncoding transcript
Transcript: ENSMUST00000145238

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163194

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185075

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144667

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167225

Predicted Effect

probably benign
Transcript: ENSMUST00000170293

SMART Domains

Protein: ENSMUSP00000128038
Gene: ENSMUSG00000029713

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 benign
Transcript: ENSMUST00000168746

SMART Domains

Protein: ENSMUSP00000132908
Gene: ENSMUSG00000029713

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 benign
Transcript: ENSMUST00000143495

SMART Domains

Protein: ENSMUSP00000126823
Gene: ENSMUSG00000029713

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

Coding Region Coverage

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	G	A	5: 89,849,525 (GRCm39)	H632Y	probably damaging	Het
Adgre5	T	A	8: 84,455,030 (GRCm39)	M221L	probably benign	Het
Apba2	A	T	7: 64,386,689 (GRCm39)	I439F	possibly damaging	Het
Arid1b	C	A	17: 5,371,559 (GRCm39)	N632K	probably damaging	Het
Bcas3	A	T	11: 85,256,417 (GRCm39)	I60L	probably damaging	Het
Brd9	T	C	13: 74,086,666 (GRCm39)	S56P	probably damaging	Het
Ccdc57	T	A	11: 120,751,295 (GRCm39)	D925V	possibly damaging	Het
Ccna1	A	G	3: 54,958,076 (GRCm39)	V143A	probably damaging	Het
Cdhr3	T	C	12: 33,102,208 (GRCm39)	T410A	probably benign	Het
Cimap3	A	G	3: 105,921,824 (GRCm39)	V33A	probably benign	Het
Ddx60	G	T	8: 62,411,680 (GRCm39)	D511Y	probably damaging	Het
Drc7	C	A	8: 95,782,629 (GRCm39)		probably benign	Het
Dysf	A	G	6: 84,118,933 (GRCm39)	E1290G	probably benign	Het
Fam168b	T	C	1: 34,875,883 (GRCm39)	M1V	probably null	Het
Farsa	A	G	8: 85,590,886 (GRCm39)	K208R	probably damaging	Het
Fnip2	A	G	3: 79,425,368 (GRCm39)		probably benign	Het
Gm17535	A	T	9: 3,035,111 (GRCm39)	H170L	probably benign	Het
Gm4553	T	C	7: 141,718,964 (GRCm39)	S155G	unknown	Het
Gm5852	T	C	3: 93,634,501 (GRCm39)		noncoding transcript	Het
Gpr158	A	G	2: 21,373,494 (GRCm39)	N143S	probably damaging	Het
Hcn1	C	A	13: 117,739,513 (GRCm39)	Q92K	unknown	Het
Helb	T	C	10: 119,934,150 (GRCm39)	I678V	possibly damaging	Het
Hnrnpl	C	A	7: 28,512,798 (GRCm39)	A118D	probably damaging	Het
Klhl14	G	A	18: 21,784,921 (GRCm39)	P169S	probably benign	Het
Kndc1	T	C	7: 139,481,904 (GRCm39)		probably benign	Het
Lmod2	A	G	6: 24,598,051 (GRCm39)	E57G	probably damaging	Het
Lrch4	T	C	5: 137,636,009 (GRCm39)	I300T	possibly damaging	Het
Lrp6	A	G	6: 134,433,053 (GRCm39)	V1426A	probably benign	Het
Lrrc39	A	G	3: 116,364,630 (GRCm39)		probably benign	Het
Mamstr	G	A	7: 45,293,709 (GRCm39)	V262I	probably benign	Het
Mob1b	A	T	5: 88,904,014 (GRCm39)	T217S	probably benign	Het
Mocs3	G	A	2: 168,073,411 (GRCm39)	R286H	possibly damaging	Het
Mpo	A	T	11: 87,693,443 (GRCm39)	Q27L	probably benign	Het
Ncdn	A	T	4: 126,640,981 (GRCm39)	D506E	probably benign	Het
Noxa1	A	G	2: 24,984,914 (GRCm39)	I8T	probably benign	Het
Oma1	G	T	4: 103,176,565 (GRCm39)	A110S	probably benign	Het
Or10a48	C	T	7: 108,424,280 (GRCm39)	V309I	probably benign	Het
Or13a18	T	A	7: 140,190,666 (GRCm39)	S196T	probably damaging	Het
Or8b4	A	G	9: 37,830,346 (GRCm39)	Y131C	probably damaging	Het
Pde4a	A	C	9: 21,122,357 (GRCm39)	K694T	probably benign	Het
Phc1	A	G	6: 122,299,958 (GRCm39)		probably benign	Het
Pias1	A	G	9: 62,830,578 (GRCm39)	V187A	probably damaging	Het
Pigf	C	A	17: 87,327,876 (GRCm39)	L130F	probably null	Het
Pkd1	G	T	17: 24,799,069 (GRCm39)	V2763L	probably damaging	Het
Potefam1	G	T	2: 111,051,107 (GRCm39)	L230I	probably damaging	Het
Ppp1r8	T	C	4: 132,561,992 (GRCm39)	Y76C	probably damaging	Het
Ppp6r3	C	A	19: 3,568,324 (GRCm39)	G158V	probably damaging	Het
Ptpn13	A	G	5: 103,698,924 (GRCm39)	I1136V	probably damaging	Het
Ptprq	T	C	10: 107,412,790 (GRCm39)	I1770V	probably damaging	Het
Rhpn2	A	T	7: 35,070,185 (GRCm39)	I148F	probably damaging	Het
Stard3	T	C	11: 98,268,285 (GRCm39)	Y239H	probably damaging	Het
Stau1	T	C	2: 166,792,729 (GRCm39)	Y412C	probably benign	Het
Sucnr1	A	G	3: 59,994,053 (GRCm39)	I194V	probably benign	Het
Tanc1	A	G	2: 59,621,185 (GRCm39)	T335A	possibly damaging	Het
Tmem126a	T	C	7: 90,101,963 (GRCm39)	T79A	probably benign	Het
Trav9-2	A	T	14: 53,828,840 (GRCm39)	Y70F	probably benign	Het
Tspear	A	G	10: 77,709,070 (GRCm39)	E432G	probably benign	Het
Ube2o	T	C	11: 116,435,580 (GRCm39)	R403G	probably benign	Het
Unc80	C	A	1: 66,645,618 (GRCm39)	S1431R	possibly damaging	Het
Usp24	G	A	4: 106,258,336 (GRCm39)	C1578Y	probably damaging	Het
Vsig10	A	T	5: 117,489,652 (GRCm39)	M473L	probably benign	Het
Xpot	T	A	10: 121,441,549 (GRCm39)	M559L	probably benign	Het

Other mutations in Gnb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
ruffian	UTSW	5	137,528,444 (GRCm39)	critical splice donor site	probably null
R2336:Gnb2	UTSW	5	137,527,460 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2012-04-20