Mutagenetix > Incidental Mutation

Incidental Mutation 'R8406:Gnb2'

652407

Institutional Source

Beutler Lab

Gene Symbol

Gnb2

Ensembl Gene

ENSMUSG00000029713

Gene Name

guanine nucleotide binding protein (G protein), beta 2

Synonyms

MMRRC Submission

067765-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8406 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

137526389-137531772 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 137526865 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 308 (L308P)

Ref Sequence

ENSEMBL: ENSMUSP00000031726 (fasta)

Gene Model

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

AlphaFold

P62880

Predicted Effect

probably damaging
Transcript: ENSMUST00000031726
AA Change: L308P

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

SMART Domains

Protein: ENSMUSP00000031726
Gene: ENSMUSG00000029713
AA Change: L308P

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: L264P

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

SMART Domains

Protein: ENSMUSP00000106649
Gene: ENSMUSG00000029713
AA Change: L264P

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: L264P

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

SMART Domains

Protein: ENSMUSP00000106652
Gene: ENSMUSG00000029713
AA Change: L264P

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: L350P

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

SMART Domains

Protein: ENSMUSP00000106656
Gene: ENSMUSG00000029713
AA Change: L350P

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

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: 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

Predicted Effect

probably damaging
Transcript: ENSMUST00000143495
AA Change: L208P

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

SMART Domains

Protein: ENSMUSP00000126823
Gene: ENSMUSG00000029713
AA Change: L208P

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: ENSMUST00000150063
AA Change: L308P

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

SMART Domains

Protein: ENSMUSP00000129353
Gene: ENSMUSG00000029713
AA Change: L308P

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: ENSMUST00000168746
AA Change: L208P

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

SMART Domains

Protein: ENSMUSP00000132908
Gene: ENSMUSG00000029713
AA Change: L208P

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: ENSMUST00000170293
AA Change: L264P

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

SMART Domains

Protein: ENSMUSP00000128038
Gene: ENSMUSG00000029713
AA Change: L264P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	G	11: 109,977,343 (GRCm39)	F139L	probably damaging	Het
Adgrg6	A	T	10: 14,343,082 (GRCm39)	D288E	probably benign	Het
Agbl1	A	G	7: 76,068,415 (GRCm39)	E327G		Het
Aipl1	T	A	11: 71,922,332 (GRCm39)	M126L	possibly damaging	Het
Alkal2	G	T	12: 30,934,850 (GRCm39)	G23V	probably damaging	Het
Arl3	A	T	19: 46,530,823 (GRCm39)	S157T	probably benign	Het
Armc3	A	T	2: 19,240,365 (GRCm39)	I41F	probably damaging	Het
Atg9a	A	C	1: 75,167,028 (GRCm39)	Y8D	probably damaging	Het
Atp10b	T	G	11: 43,093,984 (GRCm39)	H509Q	probably benign	Het
Cabyr	C	A	18: 12,883,804 (GRCm39)	T97K	probably benign	Het
Ccdc91	T	C	6: 147,438,920 (GRCm39)	F174S	possibly damaging	Het
Cep350	A	T	1: 155,798,164 (GRCm39)	H1207Q	probably benign	Het
Clstn3	A	T	6: 124,439,136 (GRCm39)	N40K	probably damaging	Het
Col4a4	G	A	1: 82,501,611 (GRCm39)	P381S	unknown	Het
Cpne5	A	T	17: 29,428,455 (GRCm39)	F116Y	probably benign	Het
Csf2rb2	T	C	15: 78,171,216 (GRCm39)	T457A	probably benign	Het
Cyb5d2	T	C	11: 72,679,959 (GRCm39)	E112G	probably benign	Het
Cyp2b13	T	C	7: 25,781,223 (GRCm39)	F212L	probably benign	Het
Dlx6	T	G	6: 6,863,779 (GRCm39)	S134A	probably benign	Het
Egln1	A	G	8: 125,638,489 (GRCm39)	Y380H	probably benign	Het
Fbxl13	A	T	5: 21,728,652 (GRCm39)	I479N	probably damaging	Het
Fhip1a	G	T	3: 85,580,027 (GRCm39)	P726Q	probably benign	Het
Fis1	A	G	5: 136,991,865 (GRCm39)	K20E	probably benign	Het
Foxk1	G	T	5: 142,387,528 (GRCm39)	V84L	unknown	Het
Gdf5	C	A	2: 155,784,272 (GRCm39)	G227W	probably damaging	Het
Ghrh	T	A	2: 157,175,656 (GRCm39)	T13S	probably benign	Het
Grik2	A	T	10: 49,148,863 (GRCm39)	V574D	probably damaging	Het
Hydin	A	T	8: 111,336,543 (GRCm39)	I5107F	possibly damaging	Het
Kl	A	T	5: 150,906,229 (GRCm39)	Y533F	probably benign	Het
Man2b1	G	T	8: 85,822,907 (GRCm39)	R816L	probably damaging	Het
Myo5c	T	C	9: 75,182,823 (GRCm39)	Y821H	probably damaging	Het
Myo7b	A	T	18: 32,092,866 (GRCm39)	C2076S	probably damaging	Het
Naip6	C	T	13: 100,436,784 (GRCm39)	A580T	possibly damaging	Het
Nectin2	A	T	7: 19,472,275 (GRCm39)	V38E	probably damaging	Het
Or13a24	A	T	7: 140,154,044 (GRCm39)		probably benign	Het
Osbpl9	T	C	4: 108,921,770 (GRCm39)	Y536C	possibly damaging	Het
Pcdh18	T	G	3: 49,710,998 (GRCm39)	I106L	probably damaging	Het
Pde4dip	T	C	3: 97,606,428 (GRCm39)	K2149E	probably benign	Het
Pds5a	A	T	5: 65,803,681 (GRCm39)	C588S	probably benign	Het
Phf8-ps	C	A	17: 33,286,038 (GRCm39)	A255S	probably benign	Het
Pop1	T	C	15: 34,529,316 (GRCm39)	M812T	probably benign	Het
Pou2f3	T	C	9: 43,051,153 (GRCm39)	T178A	probably damaging	Het
Rab44	C	T	17: 29,359,294 (GRCm39)	A494V	unknown	Het
Ros1	G	C	10: 51,977,941 (GRCm39)	T1456S	possibly damaging	Het
Rubcnl	T	G	14: 75,289,425 (GRCm39)	F644L	probably damaging	Het
Saraf	C	T	8: 34,632,602 (GRCm39)	P227L	probably benign	Het
Sh3glb1	T	G	3: 144,397,198 (GRCm39)	E383D	probably damaging	Het
Sh3rf3	T	C	10: 58,919,407 (GRCm39)	V508A	probably damaging	Het
Sirt6	A	T	10: 81,458,328 (GRCm39)	H308Q	probably benign	Het
Slc29a1	T	A	17: 45,900,706 (GRCm39)	I119F	probably damaging	Het
Smtnl1	C	T	2: 84,648,742 (GRCm39)	E171K	probably benign	Het
Spg11	T	A	2: 121,923,923 (GRCm39)	E799D	probably damaging	Het
Tecpr1	A	T	5: 144,137,658 (GRCm39)	W894R	probably damaging	Het
Tiam2	A	C	17: 3,558,065 (GRCm39)	I1230L	possibly damaging	Het
Tnfrsf8	A	G	4: 145,019,265 (GRCm39)	L190P	probably damaging	Het
Trim35	C	T	14: 66,534,724 (GRCm39)	T69M	possibly damaging	Het
Ttll7	T	C	3: 146,645,779 (GRCm39)	Y546H	probably benign	Het
Ubash3b	C	T	9: 40,940,971 (GRCm39)	G389R	probably damaging	Het
Vma21-ps	C	T	4: 52,497,034 (GRCm39)	V71I	probably damaging	Het
Vmn1r43	T	A	6: 89,847,414 (GRCm39)	H24L	possibly damaging	Het
Vps37c	T	A	19: 10,687,719 (GRCm39)	L60Q	probably damaging	Het
Ythdf2	A	G	4: 131,931,946 (GRCm39)	W405R	probably damaging	Het
Zfp775	T	C	6: 48,597,637 (GRCm39)	C504R	probably damaging	Het
Zfp82	A	G	7: 29,761,652 (GRCm39)		probably null	Het
Zpr1	T	A	9: 46,185,400 (GRCm39)	I127N	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- AGGAACCAAACCTGGGTATG -3'
(R):5'- ACATCATCTGCGGCATCACC -3'

Sequencing Primer
(F):5'- TTGGCACATGTACCCAGC -3'
(R):5'- GCATCACCTCGGTTGCC -3'

Posted On

2020-10-20