Mutagenetix > Incidental Mutation

Incidental Mutation 'R5023:Gnb2'

391104

Institutional Source

Beutler Lab

Gene Symbol

Gnb2

Ensembl Gene

ENSMUSG00000029713

Gene Name

guanine nucleotide binding protein (G protein), beta 2

Synonyms

MMRRC Submission

042614-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5023 (G1)

Quality Score

220

Status

Validated

Chromosome

Chromosomal Location

137526389-137531772 bp(-) (GRCm39)

Type of Mutation

splice site (2005 bp from exon)

DNA Base Change (assembly)

G to A at 137528202 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000031727 (fasta)

Gene Model

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

AlphaFold

P62880

Predicted Effect

probably benign
Transcript: ENSMUST00000031726

SMART Domains

Protein: ENSMUSP00000031726
Gene: ENSMUSG00000029713

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 null
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

probably benign
Transcript: ENSMUST00000111027

SMART Domains

Protein: ENSMUSP00000106656
Gene: ENSMUSG00000029713

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

noncoding transcript
Transcript: ENSMUST00000142252

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163194

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145238

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167225

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144667

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185075

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

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: ENSMUST00000132525

SMART Domains

Protein: ENSMUSP00000119725
Gene: ENSMUSG00000029713

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 benign
Transcript: ENSMUST00000150063

SMART Domains

Protein: ENSMUSP00000129353
Gene: ENSMUSG00000029713

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: 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: ENSMUST00000140139

SMART Domains

Protein: ENSMUSP00000121942
Gene: ENSMUSG00000029713

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (127/129)

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: 124 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	A	T	11: 72,057,581 (GRCm39)	H739Q	probably benign	Het
Abca3	C	T	17: 24,593,274 (GRCm39)	R224C	probably damaging	Het
Abca8b	A	G	11: 109,865,814 (GRCm39)		probably null	Het
Adam1b	C	T	5: 121,639,222 (GRCm39)	V608M	probably damaging	Het
Ank2	A	G	3: 126,735,520 (GRCm39)		probably benign	Het
Ankrd17	A	C	5: 90,430,727 (GRCm39)	L1019R	probably damaging	Het
Arih1	T	C	9: 59,393,515 (GRCm39)	N39S	unknown	Het
Best3	G	A	10: 116,824,647 (GRCm39)	V38I	probably benign	Het
Bicc1	A	G	10: 70,783,713 (GRCm39)	S393P	possibly damaging	Het
C1d	T	A	11: 17,216,674 (GRCm39)	N135K	probably benign	Het
Cage1	G	T	13: 38,195,387 (GRCm39)	S778*	probably null	Het
Capn7	T	A	14: 31,074,383 (GRCm39)	V262E	probably damaging	Het
Ccdc190	A	G	1: 169,760,656 (GRCm39)	R95G	probably damaging	Het
Cd163	C	T	6: 124,302,247 (GRCm39)	T937I	probably damaging	Het
Cdh18	G	A	15: 23,259,752 (GRCm39)	S194N	probably damaging	Het
Ceacam23	A	T	7: 17,636,631 (GRCm39)	D236V	probably damaging	Het
Clec4b2	A	T	6: 123,177,915 (GRCm39)	S77C	probably null	Het
Ctsw	T	A	19: 5,516,077 (GRCm39)	D237V	probably damaging	Het
Cyp2c68	G	A	19: 39,700,951 (GRCm39)	T289I	probably benign	Het
Cyp4f39	A	G	17: 32,700,078 (GRCm39)	Y133C	probably damaging	Het
Dlg5	T	C	14: 24,186,690 (GRCm39)	E1847G	probably damaging	Het
Dnah7a	C	A	1: 53,686,407 (GRCm39)	E248*	probably null	Het
Eef2kmt	T	A	16: 5,065,463 (GRCm39)	D248V	probably damaging	Het
Ewsr1	T	C	11: 5,038,054 (GRCm39)	T113A	possibly damaging	Het
Fbxo4	A	G	15: 4,007,238 (GRCm39)		probably null	Het
Fbxo43	A	T	15: 36,163,075 (GRCm39)	M44K	probably benign	Het
Fchsd1	A	G	18: 38,097,863 (GRCm39)	I340T	possibly damaging	Het
Fgf5	C	A	5: 98,409,874 (GRCm39)	A141E	probably damaging	Het
Gfm1	T	C	3: 67,380,877 (GRCm39)	V664A	probably damaging	Het
Glp2r	T	C	11: 67,631,858 (GRCm39)	T121A	possibly damaging	Het
Gm10803	A	C	2: 93,394,517 (GRCm39)	L96F	probably damaging	Het
Gm14569	T	C	X: 35,694,470 (GRCm39)	D1413G	probably benign	Het
Gm15455	T	C	1: 33,876,432 (GRCm39)		noncoding transcript	Het
Gm1818	G	C	12: 48,602,318 (GRCm39)		noncoding transcript	Het
Gpc4	G	A	X: 51,163,440 (GRCm39)	R148C	probably damaging	Het
Gpx5	C	T	13: 21,472,915 (GRCm39)	V140I	probably damaging	Het
Gtpbp1	A	T	15: 79,603,422 (GRCm39)	Q637L	possibly damaging	Het
H2-T9	A	G	17: 36,420,307 (GRCm39)		probably benign	Het
Herc1	A	T	9: 66,377,608 (GRCm39)	K3458M	possibly damaging	Het
Hhat	A	T	1: 192,409,647 (GRCm39)	L138Q	probably damaging	Het
Hipk1	G	T	3: 103,684,823 (GRCm39)	T264N	probably damaging	Het
Hjurp	A	T	1: 88,202,772 (GRCm39)	Y71N	possibly damaging	Het
Hnf4g	G	T	3: 3,709,647 (GRCm39)	A144S	probably damaging	Het
Hook3	TAGAG	TAG	8: 26,522,047 (GRCm39)		probably null	Het
Ifi204	G	A	1: 173,579,306 (GRCm39)	T513I	possibly damaging	Het
Ino80b	G	T	6: 83,102,023 (GRCm39)	S26R	probably damaging	Het
Ints9	T	A	14: 65,217,677 (GRCm39)	L68H	probably damaging	Het
Isx	C	T	8: 75,619,342 (GRCm39)	T178I	probably benign	Het
Kel	A	G	6: 41,665,045 (GRCm39)	L255P	probably damaging	Het
Klf11	T	A	12: 24,705,358 (GRCm39)	S271T	probably benign	Het
Klhl20	A	C	1: 160,936,790 (GRCm39)		probably null	Het
Lama2	G	A	10: 27,066,500 (GRCm39)	T1127I	probably damaging	Het
Larp1b	T	A	3: 40,988,420 (GRCm39)	N81K	possibly damaging	Het
Lsm11	T	C	11: 45,835,666 (GRCm39)	D25G	probably damaging	Het
Map3k20	T	A	2: 72,232,689 (GRCm39)		probably benign	Het
Mbd6	C	T	10: 127,122,310 (GRCm39)	V173I	probably benign	Het
Milr1	A	G	11: 106,657,791 (GRCm39)	D131G	possibly damaging	Het
Mybpc1	T	G	10: 88,379,636 (GRCm39)	D635A	probably damaging	Het
Myh7b	G	C	2: 155,474,293 (GRCm39)	R1669S	possibly damaging	Het
Ndufa7	A	G	17: 34,043,577 (GRCm39)		probably benign	Het
Ndufs3	C	A	2: 90,729,004 (GRCm39)	A161S	probably benign	Het
Neo1	T	C	9: 58,897,554 (GRCm39)	D134G	probably damaging	Het
Nme4	G	A	17: 26,312,642 (GRCm39)	T129I	probably benign	Het
Npffr2	A	T	5: 89,730,546 (GRCm39)	T159S	probably benign	Het
Nup153	A	T	13: 46,834,585 (GRCm39)		probably benign	Het
Or3a10	T	A	11: 73,935,881 (GRCm39)	D73V	probably damaging	Het
Or51ac3	A	C	7: 103,214,378 (GRCm39)	M36R	possibly damaging	Het
Pate2	T	C	9: 35,597,407 (GRCm39)		probably benign	Het
Pcca	A	G	14: 123,027,810 (GRCm39)	N73D	probably damaging	Het
Pip5k1c	G	A	10: 81,146,723 (GRCm39)		probably null	Het
Pkhd1l1	A	T	15: 44,391,587 (GRCm39)	H1551L	probably benign	Het
Pkhd1l1	G	A	15: 44,445,623 (GRCm39)	M3768I	probably benign	Het
Ppa2	A	G	3: 133,076,195 (GRCm39)	M275V	probably benign	Het
Ptpn23	G	A	9: 110,217,624 (GRCm39)	T744I	probably benign	Het
Ptprv	A	T	1: 135,052,244 (GRCm39)		noncoding transcript	Het
Rad17	A	T	13: 100,781,571 (GRCm39)	H75Q	possibly damaging	Het
Rbm44	T	C	1: 91,096,820 (GRCm39)		probably null	Het
Rbpj	C	T	5: 53,806,757 (GRCm39)	R201W	probably damaging	Het
Rbpjl	C	A	2: 164,252,209 (GRCm39)	L215I	probably damaging	Het
Ror1	A	G	4: 100,283,129 (GRCm39)	E398G	probably benign	Het
Scamp3	T	A	3: 89,089,600 (GRCm39)		probably benign	Het
Selenot	CATGTATG	CATGTATGTATG	3: 58,495,874 (GRCm39)		probably null	Het
Siglec15	A	G	18: 78,091,890 (GRCm39)	C104R	probably damaging	Het
Sis	T	C	3: 72,841,455 (GRCm39)	I787V	probably benign	Het
Slc17a8	T	C	10: 89,412,422 (GRCm39)	D521G	probably benign	Het
Slc7a10	T	A	7: 34,896,780 (GRCm39)	M172K	possibly damaging	Het
Slco4c1	G	A	1: 96,768,953 (GRCm39)	P303L	probably damaging	Het
Slitrk3	T	C	3: 72,957,981 (GRCm39)	T264A	probably benign	Het
Smg8	A	C	11: 86,976,963 (GRCm39)	V206G	probably damaging	Het
Smg9	A	G	7: 24,105,297 (GRCm39)	K137R	possibly damaging	Het
Srrm2	C	A	17: 24,038,291 (GRCm39)		probably benign	Het
Sult2a2	T	A	7: 13,468,785 (GRCm39)	Y84N	possibly damaging	Het
Syngr2	A	T	11: 117,703,336 (GRCm39)	I34F	probably benign	Het
Tank	G	A	2: 61,408,979 (GRCm39)		probably benign	Het
Tead4	T	C	6: 128,271,134 (GRCm39)		probably benign	Het
Tesl1	G	A	X: 23,773,480 (GRCm39)	G327E	probably damaging	Het
Tex36	A	T	7: 133,197,019 (GRCm39)	C33S	probably benign	Het
Timd5	T	A	11: 46,419,359 (GRCm39)	D58E	probably damaging	Het
Timm21	C	A	18: 84,967,539 (GRCm39)	V112L	possibly damaging	Het
Tmem240	T	A	4: 155,824,131 (GRCm39)	L92Q	probably damaging	Het
Tmem268	C	G	4: 63,486,777 (GRCm39)	S100C	probably damaging	Het
Tmod3	G	A	9: 75,418,488 (GRCm39)	P183S	probably damaging	Het
Trappc10	G	T	10: 78,052,994 (GRCm39)	F260L	possibly damaging	Het
Trim16	A	T	11: 62,727,638 (GRCm39)	Y233F	probably benign	Het
Trmt112	T	C	19: 6,888,121 (GRCm39)	V91A	probably benign	Het
Ttc3	A	G	16: 94,230,218 (GRCm39)	E450G	probably benign	Het
Ttk	A	G	9: 83,745,594 (GRCm39)	D647G	probably damaging	Het
Ubash3b	A	G	9: 40,948,755 (GRCm39)	C187R	possibly damaging	Het
Vmn1r29	T	A	6: 58,285,052 (GRCm39)	Y257*	probably null	Het
Vmn1r33	T	C	6: 66,589,089 (GRCm39)	N155S	probably benign	Het
Vmn2r28	T	A	7: 5,489,463 (GRCm39)	I459L	probably benign	Het
Vps16	A	G	2: 130,281,372 (GRCm39)	S235G	probably benign	Het
Vwde	T	C	6: 13,192,641 (GRCm39)	I421V	possibly damaging	Het
Xiap	T	C	X: 41,183,342 (GRCm39)	F23L	probably benign	Het
Xkr7	A	G	2: 152,896,300 (GRCm39)	T385A	probably benign	Het
Zbtb11	A	G	16: 55,826,428 (GRCm39)	Y819C	probably damaging	Het
Zfp112	A	G	7: 23,825,909 (GRCm39)	T624A	probably damaging	Het
Zfp592	A	G	7: 80,674,095 (GRCm39)	D353G	probably damaging	Het
Zfp62	T	A	11: 49,106,556 (GRCm39)	S216T	probably damaging	Het
Zfp677	A	T	17: 21,618,056 (GRCm39)	H371L	probably damaging	Het
Zfp780b	T	C	7: 27,662,873 (GRCm39)	K561E	possibly damaging	Het
Zfp936	G	A	7: 42,836,681 (GRCm39)	D31N	probably damaging	Het
Znfx1	T	C	2: 166,881,746 (GRCm39)	Y217C	probably damaging	Het
Zpbp	C	T	11: 11,365,248 (GRCm39)	E200K	probably benign	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
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
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'- AGGCCACAAAGTTCCCTGAG -3'
(R):5'- CCCCTGCTTTAGTATGTCTAGG -3'

Sequencing Primer
(F):5'- CGTAGGCACAGGTCATGAC -3'
(R):5'- CCCTGCTTTAGTATGTCTAGGTTCTG -3'

Posted On

2016-06-06