Mutagenetix > Incidental Mutations

Incidental Mutation 'R1522:Golga2'

167492

Institutional Source

Beutler Lab

Gene Symbol

Golga2

Ensembl Gene

ENSMUSG00000002546

Gene Name

golgi autoantigen, golgin subfamily a, 2

Synonyms

GM130

MMRRC Submission

040871-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.790) question?

Stock #

R1522 (G1)

Quality Score

201

Status

Not validated

Chromosome

Chromosomal Location

32287384-32307921 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32302204 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 325 (V325A)

Ref Sequence

ENSEMBL: ENSMUSP00000109004 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081670] [ENSMUST00000100194] [ENSMUST00000113377] [ENSMUST00000129193] [ENSMUST00000139494]

Predicted Effect

probably benign
Transcript: ENSMUST00000081670
AA Change: V282A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000080374
Gene: ENSMUSG00000002546
AA Change: V282A

Domain	Start	End	E-Value	Type
low complexity region	33	39	N/A	INTRINSIC
coiled coil region	105	173	N/A	INTRINSIC
low complexity region	189	202	N/A	INTRINSIC
low complexity region	301	313	N/A	INTRINSIC
Pfam:GOLGA2L5	337	955	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100194
AA Change: V352A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000097768
Gene: ENSMUSG00000002546
AA Change: V352A

Domain	Start	End	E-Value	Type
low complexity region	3	11	N/A	INTRINSIC
low complexity region	45	51	N/A	INTRINSIC
low complexity region	98	113	N/A	INTRINSIC
coiled coil region	176	244	N/A	INTRINSIC
low complexity region	260	273	N/A	INTRINSIC
low complexity region	372	384	N/A	INTRINSIC
Pfam:GOLGA2L5	408	1026	2.1e-299	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113377
AA Change: V325A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000109004
Gene: ENSMUSG00000002546
AA Change: V325A

Domain	Start	End	E-Value	Type
low complexity region	3	11	N/A	INTRINSIC
low complexity region	45	51	N/A	INTRINSIC
low complexity region	71	86	N/A	INTRINSIC
coiled coil region	149	217	N/A	INTRINSIC
low complexity region	233	246	N/A	INTRINSIC
low complexity region	345	357	N/A	INTRINSIC
Pfam:GOLGA2L5	381	999	N/A	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126276

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127276

Predicted Effect

probably benign
Transcript: ENSMUST00000129193

SMART Domains

Protein: ENSMUSP00000115003
Gene: ENSMUSG00000002546

Domain	Start	End	E-Value	Type
low complexity region	31	37	N/A	INTRINSIC
low complexity region	57	72	N/A	INTRINSIC
coiled coil region	136	176	N/A	INTRINSIC
low complexity region	192	205	N/A	INTRINSIC
coiled coil region	226	282	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000131712
AA Change: V259A

SMART Domains

Protein: ENSMUSP00000114169
Gene: ENSMUSG00000002546
AA Change: V259A

Domain	Start	End	E-Value	Type
low complexity region	33	39	N/A	INTRINSIC
coiled coil region	106	146	N/A	INTRINSIC
low complexity region	162	175	N/A	INTRINSIC
coiled coil region	196	331	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139494

SMART Domains

Protein: ENSMUSP00000117476
Gene: ENSMUSG00000002546

Domain	Start	End	E-Value	Type
low complexity region	55	61	N/A	INTRINSIC
low complexity region	108	123	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146544

Predicted Effect

probably benign
Transcript: ENSMUST00000147707

SMART Domains

Protein: ENSMUSP00000121886
Gene: ENSMUSG00000002546

Domain	Start	End	E-Value	Type
low complexity region	33	39	N/A	INTRINSIC
low complexity region	86	101	N/A	INTRINSIC
coiled coil region	165	205	N/A	INTRINSIC
low complexity region	221	234	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149141

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This encoded protein has been postulated to play roles in the stacking of Golgi cisternae and in vesicular transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of these variants has not been determined. [provided by RefSeq, Feb 2010]

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	T	C	6: 83,162,586	S498P	probably damaging	Het
3100002H09Rik	A	G	4: 124,610,694	W22R	probably damaging	Het
AA986860	A	G	1: 130,743,094	E351G	probably damaging	Het
Acsl5	T	C	19: 55,280,492	V195A	probably benign	Het
Adamts10	A	G	17: 33,537,319	D312G	probably benign	Het
Adgrb1	A	G	15: 74,580,617	M211V	probably damaging	Het
Ankfy1	C	T	11: 72,755,867	R859*	probably null	Het
Atp8b1	T	A	18: 64,550,432	I742L	probably benign	Het
B3galnt2	T	A	13: 13,970,769	V89E	probably damaging	Het
BC024978	A	G	7: 27,202,680	H244R	probably damaging	Het
Brinp3	A	C	1: 146,901,890	T692P	probably damaging	Het
C9	T	A	15: 6,486,762	F349I	probably damaging	Het
Cacna1a	T	A	8: 84,633,433	M1976K	probably benign	Het
Ccdc180	T	C	4: 45,927,975	V1170A	possibly damaging	Het
Celsr1	A	G	15: 85,931,276	V1846A	probably benign	Het
Ces1f	A	T	8: 93,271,889	Y160N	possibly damaging	Het
Cfap45	A	G	1: 172,540,572	E377G	probably damaging	Het
Clca3a1	T	A	3: 144,755,171	M240L	probably benign	Het
Clnk	G	A	5: 38,794,966	T10M	probably damaging	Het
Cntrl	T	A	2: 35,155,279	I781K	possibly damaging	Het
Col11a2	G	A	17: 34,055,254	G375S	probably damaging	Het
Col6a5	T	A	9: 105,939,994	I373F	unknown	Het
Dmxl1	C	T	18: 49,852,367	A227V	probably benign	Het
Dok5	A	G	2: 170,732,132	N4D	probably benign	Het
Dpysl3	A	T	18: 43,363,557	V138D	probably damaging	Het
Efs	A	T	14: 54,919,715	Y380N	probably damaging	Het
Eme2	G	A	17: 24,892,918	S263F	probably damaging	Het
Farp2	A	G	1: 93,618,553	Q855R	possibly damaging	Het
Fcrls	A	C	3: 87,256,707	S372A	possibly damaging	Het
Gadl1	C	T	9: 115,944,229	A113V	probably damaging	Het
Gatsl2	T	G	5: 134,125,887	S43R	probably damaging	Het
Gda	T	A	19: 21,412,539	E219D	probably benign	Het
Gli1	A	T	10: 127,332,577	M469K	probably damaging	Het
Gm4847	A	T	1: 166,641,650	S148R	probably damaging	Het
Hpf1	A	G	8: 60,896,749	D137G	probably damaging	Het
Htr2a	C	G	14: 74,705,853	S291*	probably null	Het
Itga5	G	A	15: 103,356,782	Q233*	probably null	Het
Jazf1	C	A	6: 52,812,183	R102L	probably damaging	Het
Kif6	T	G	17: 49,714,113	L322R	probably damaging	Het
Ktn1	A	C	14: 47,667,416	K217T	probably damaging	Het
Lig4	A	T	8: 9,973,012	V256E	possibly damaging	Het
Lrp1	G	T	10: 127,567,364	D2113E	probably damaging	Het
Lrp1	A	T	10: 127,575,286	D1399E	probably benign	Het
Mmel1	A	G	4: 154,894,986	E717G	probably damaging	Het
Mndal	G	T	1: 173,871,466	P155H	possibly damaging	Het
Mycbpap	A	G	11: 94,511,623		probably null	Het
Nedd1	T	C	10: 92,719,614	E3G	probably damaging	Het
Nlgn1	A	T	3: 25,435,909	N551K	probably damaging	Het
Nup210	G	A	6: 91,069,166	P595L	possibly damaging	Het
Olfr117	A	T	17: 37,659,770	C188S	probably damaging	Het
Olfr1302	A	T	2: 111,780,348		probably null	Het
Olfr199	T	G	16: 59,215,984	T210P	probably damaging	Het
Olfr477	A	G	7: 107,990,533	H56R	probably benign	Het
Olfr697	A	G	7: 106,741,005	C310R	probably benign	Het
Pank3	G	A	11: 35,781,681	V304M	probably benign	Het
Phf3	G	A	1: 30,805,648	T1410I	probably benign	Het
Ppm1k	A	G	6: 57,525,157	I7T	possibly damaging	Het
Ppp1r12c	T	C	7: 4,497,425	D73G	probably damaging	Het
Prelid2	T	G	18: 41,881,267	M165L	probably benign	Het
Prkd3	A	C	17: 78,952,696	L826R	probably damaging	Het
Ptchd4	A	T	17: 42,503,542	N778I	probably damaging	Het
Ptprm	T	C	17: 66,693,871	D1063G	possibly damaging	Het
Rab27a	C	A	9: 73,075,482	T23N	probably damaging	Het
Rasgrf2	A	T	13: 91,896,086	F949L	probably benign	Het
Rbm33	A	G	5: 28,337,004	N68D	probably damaging	Het
Rgl1	A	T	1: 152,586,533	L109Q	probably damaging	Het
Rnf20	A	G	4: 49,638,197	N103S	possibly damaging	Het
Sbno1	G	A	5: 124,392,612	L875F	probably damaging	Het
Scube1	T	A	15: 83,628,076		probably null	Het
Selenbp1	G	A	3: 94,937,358	V109M	probably damaging	Het
Serpina3c	T	A	12: 104,151,546	I178F	probably damaging	Het
Shisa8	C	T	15: 82,208,501	G63D	probably damaging	Het
Snx14	T	C	9: 88,402,224	R464G	possibly damaging	Het
Snx25	A	T	8: 46,124,082	M1K	probably null	Het
Sorcs3	C	A	19: 48,706,009	T574K	possibly damaging	Het
Syne2	A	G	12: 76,103,783	E6528G	probably damaging	Het
Syt5	T	C	7: 4,540,246	E338G	probably damaging	Het
Tbk1	T	C	10: 121,551,318	K691E	probably benign	Het
Tenm3	G	A	8: 48,395,576	T11I	probably damaging	Het
Thrb	A	G	14: 18,002,597	H87R	probably damaging	Het
Tlr4	T	A	4: 66,839,696	M242K	possibly damaging	Het
Tm4sf19	T	C	16: 32,406,002	M56T	possibly damaging	Het
Tmem212	T	A	3: 27,886,471	R66*	probably null	Het
Tmem39b	G	T	4: 129,684,482	D315E	probably benign	Het
Tnxb	T	C	17: 34,718,638	F3834L	probably damaging	Het
Trim36	A	T	18: 46,186,183	L225*	probably null	Het
Trim42	A	T	9: 97,365,679	H321Q	probably damaging	Het
Trio	G	T	15: 27,732,640	Q3052K	probably benign	Het
Trpm3	T	C	19: 22,978,334	I1091T	probably benign	Het
Tst	T	C	15: 78,399,943	E228G	possibly damaging	Het
Ttn	T	C	2: 76,871,716		probably benign	Het
Uap1	A	C	1: 170,150,941		probably null	Het
Ush2a	T	C	1: 188,797,814	S3267P	possibly damaging	Het
Usp5	T	C	6: 124,825,166	T38A	probably benign	Het
Uvssa	A	T	5: 33,387,808	Q84L	probably damaging	Het
Vmn1r159	T	G	7: 22,843,268	H113P	probably damaging	Het
Vps13d	A	T	4: 145,098,172		probably null	Het
Zfp182	T	A	X: 21,031,560	I166L	probably benign	Het
Zfp811	A	T	17: 32,797,648	Y472N	probably damaging	Het

Other mutations in Golga2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00531:Golga2	APN	2	32305214	missense	probably benign	0.01
IGL01561:Golga2	APN	2	32296677	missense	probably benign	0.00
IGL02396:Golga2	APN	2	32298644	splice site	probably benign
IGL02636:Golga2	APN	2	32296723	critical splice donor site	probably null
IGL02712:Golga2	APN	2	32304213	missense	probably damaging	1.00
IGL03172:Golga2	APN	2	32292156	missense	probably benign	0.04
IGL03193:Golga2	APN	2	32305008	missense	probably damaging	1.00
little	UTSW	2	32305984	nonsense	probably null
R0050:Golga2	UTSW	2	32292127	missense	probably damaging	0.96
R0050:Golga2	UTSW	2	32292127	missense	probably damaging	0.96
R0265:Golga2	UTSW	2	32304952	splice site	probably null
R0440:Golga2	UTSW	2	32302933	missense	probably damaging	1.00
R0644:Golga2	UTSW	2	32297521	missense	probably damaging	1.00
R0825:Golga2	UTSW	2	32304791	missense	probably damaging	1.00
R1179:Golga2	UTSW	2	32303695	missense	possibly damaging	0.50
R1447:Golga2	UTSW	2	32297776	missense	possibly damaging	0.69
R1459:Golga2	UTSW	2	32297795	splice site	probably null
R1517:Golga2	UTSW	2	32305984	nonsense	probably null
R1599:Golga2	UTSW	2	32303173	missense	probably benign	0.00
R1702:Golga2	UTSW	2	32299275	missense	probably damaging	1.00
R1716:Golga2	UTSW	2	32302897	missense	probably damaging	1.00
R1777:Golga2	UTSW	2	32305470	splice site	probably null
R1781:Golga2	UTSW	2	32306576	missense	probably damaging	1.00
R2229:Golga2	UTSW	2	32306465	missense	probably benign	0.06
R2484:Golga2	UTSW	2	32304770	missense	probably benign	0.32
R2972:Golga2	UTSW	2	32305659	missense	probably benign	0.16
R3411:Golga2	UTSW	2	32302942	missense	probably damaging	0.98
R3851:Golga2	UTSW	2	32305611	missense	probably benign	0.30
R3852:Golga2	UTSW	2	32305611	missense	probably benign	0.30
R4130:Golga2	UTSW	2	32288166	missense	probably benign	0.07
R4783:Golga2	UTSW	2	32297156	missense	probably damaging	1.00
R4784:Golga2	UTSW	2	32297156	missense	probably damaging	1.00
R4785:Golga2	UTSW	2	32297156	missense	probably damaging	1.00
R4808:Golga2	UTSW	2	32303214	missense	probably benign	0.00
R5103:Golga2	UTSW	2	32303746	missense	probably benign	0.09
R5261:Golga2	UTSW	2	32304154	missense	probably benign	0.02
R5315:Golga2	UTSW	2	32303761	missense	probably damaging	1.00
R5508:Golga2	UTSW	2	32288187	nonsense	probably null
R5627:Golga2	UTSW	2	32306047	nonsense	probably null
R5921:Golga2	UTSW	2	32297755	missense	probably benign	0.00
R6678:Golga2	UTSW	2	32299060	missense	probably damaging	0.99
R7365:Golga2	UTSW	2	32303001	nonsense	probably null
R7390:Golga2	UTSW	2	32288190	missense
R7395:Golga2	UTSW	2	32305587	missense	possibly damaging	0.94
R7555:Golga2	UTSW	2	32288166	missense	probably benign	0.07
R7640:Golga2	UTSW	2	32306239	missense	probably benign
R8219:Golga2	UTSW	2	32306480	missense	probably damaging	1.00
R8554:Golga2	UTSW	2	32293345	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAGTGTGGAGAGTGGAGACTTAGC -3'
(R):5'- AGGAGGAGGTTCTAAACTGTCCAGC -3'

Sequencing Primer
(F):5'- gccccaggtaactcagtctc -3'
(R):5'- GAGGTTCTAAACTGTCCAGCATTTG -3'

Posted On

2014-04-13