Mutagenetix > Incidental Mutation

Incidental Mutation 'R7640:Golga2'

590161

Institutional Source

Beutler Lab

Gene Symbol

Golga2

Ensembl Gene

ENSMUSG00000002546

Gene Name

golgi autoantigen, golgin subfamily a, 2

Synonyms

GM130

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.868) question?

Stock #

R7640 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32287384-32307921 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32306239 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 930 (V930A)

Ref Sequence

ENSEMBL: ENSMUSP00000097768 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078352] [ENSMUST00000081670] [ENSMUST00000091089] [ENSMUST00000100194] [ENSMUST00000113350] [ENSMUST00000113352] [ENSMUST00000113365] [ENSMUST00000113377] [ENSMUST00000129156] [ENSMUST00000129193] [ENSMUST00000139624] [ENSMUST00000201433] [ENSMUST00000201440] [ENSMUST00000201494] [ENSMUST00000202578]

AlphaFold

Q921M4

Predicted Effect

probably benign
Transcript: ENSMUST00000078352

SMART Domains

Protein: ENSMUSP00000077461
Gene: ENSMUSG00000026825

Domain	Start	End	E-Value	Type
DYNc	6	245	1.38e-177	SMART
PH	520	627	2.7e-10	SMART
GED	654	745	9.51e-32	SMART
low complexity region	747	761	N/A	INTRINSIC
low complexity region	783	816	N/A	INTRINSIC
low complexity region	819	830	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000081670
AA Change: V860A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000080374
Gene: ENSMUSG00000002546
AA Change: V860A

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: ENSMUST00000091089

SMART Domains

Protein: ENSMUSP00000088618
Gene: ENSMUSG00000026825

Domain	Start	End	E-Value	Type
DYNc	6	245	1.38e-177	SMART
PH	516	623	2.7e-10	SMART
GED	650	741	9.51e-32	SMART
low complexity region	743	757	N/A	INTRINSIC
low complexity region	779	812	N/A	INTRINSIC
low complexity region	815	826	N/A	INTRINSIC
low complexity region	845	860	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000100194
AA Change: V930A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000097768
Gene: ENSMUSG00000002546
AA Change: V930A

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: ENSMUST00000113350

SMART Domains

Protein: ENSMUSP00000108977
Gene: ENSMUSG00000026825

Domain	Start	End	E-Value	Type
DYNc	6	245	1.38e-177	SMART
PH	520	627	2.7e-10	SMART
GED	654	745	9.51e-32	SMART
low complexity region	747	761	N/A	INTRINSIC
low complexity region	783	816	N/A	INTRINSIC
low complexity region	819	830	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113352

SMART Domains

Protein: ENSMUSP00000108979
Gene: ENSMUSG00000026825

Domain	Start	End	E-Value	Type
DYNc	6	245	1.38e-177	SMART
PH	520	627	2.7e-10	SMART
GED	654	745	9.51e-32	SMART
low complexity region	747	761	N/A	INTRINSIC
low complexity region	783	816	N/A	INTRINSIC
low complexity region	819	830	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113365

SMART Domains

Protein: ENSMUSP00000108992
Gene: ENSMUSG00000026825

Domain	Start	End	E-Value	Type
DYNc	6	245	1.38e-177	SMART
PH	520	627	2.7e-10	SMART
GED	654	745	9.51e-32	SMART
low complexity region	747	761	N/A	INTRINSIC
low complexity region	783	816	N/A	INTRINSIC
low complexity region	819	830	N/A	INTRINSIC
low complexity region	851	861	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113377
AA Change: V903A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000109004
Gene: ENSMUSG00000002546
AA Change: V903A

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

probably benign
Transcript: ENSMUST00000129156

SMART Domains

Protein: ENSMUSP00000118914
Gene: ENSMUSG00000026825

Domain	Start	End	E-Value	Type
PH	1	96	2.75e-2	SMART
GED	123	214	9.51e-32	SMART
low complexity region	216	230	N/A	INTRINSIC
low complexity region	239	258	N/A	INTRINSIC

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

probably benign
Transcript: ENSMUST00000131712

SMART Domains

Protein: ENSMUSP00000114169
Gene: ENSMUSG00000002546

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: ENSMUST00000139291

SMART Domains

Protein: ENSMUSP00000115523
Gene: ENSMUSG00000026825

Domain	Start	End	E-Value	Type
Pfam:GED	1	43	3.3e-7	PFAM
low complexity region	45	59	N/A	INTRINSIC
low complexity region	81	114	N/A	INTRINSIC
low complexity region	117	128	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139624

SMART Domains

Protein: ENSMUSP00000122679
Gene: ENSMUSG00000026825

Domain	Start	End	E-Value	Type
DYNc	6	245	1.38e-177	SMART
PH	520	627	2.7e-10	SMART
GED	654	745	9.51e-32	SMART
low complexity region	747	761	N/A	INTRINSIC
low complexity region	783	816	N/A	INTRINSIC
low complexity region	819	830	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000155269

SMART Domains

Protein: ENSMUSP00000116054
Gene: ENSMUSG00000026825

Domain	Start	End	E-Value	Type
GED	1	53	1.63e-1	SMART
low complexity region	55	69	N/A	INTRINSIC
low complexity region	91	124	N/A	INTRINSIC
low complexity region	127	138	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000201433

SMART Domains

Protein: ENSMUSP00000144264
Gene: ENSMUSG00000026825

Domain	Start	End	E-Value	Type
DYNc	6	245	1.38e-177	SMART
PH	520	627	2.7e-10	SMART
GED	654	745	9.51e-32	SMART
low complexity region	747	761	N/A	INTRINSIC
low complexity region	783	816	N/A	INTRINSIC
low complexity region	819	830	N/A	INTRINSIC
low complexity region	851	861	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000201440

SMART Domains

Protein: ENSMUSP00000144309
Gene: ENSMUSG00000026825

Domain	Start	End	E-Value	Type
Pfam:GED	1	41	5.9e-7	PFAM
low complexity region	43	57	N/A	INTRINSIC
low complexity region	66	85	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000201494

SMART Domains

Protein: ENSMUSP00000144145
Gene: ENSMUSG00000026825

Domain	Start	End	E-Value	Type
DYNc	6	245	6.9e-180	SMART
Pfam:Dynamin_M	413	473	2.1e-14	PFAM
PH	491	598	1.2e-12	SMART
GED	625	716	6.1e-34	SMART
low complexity region	718	732	N/A	INTRINSIC
low complexity region	754	787	N/A	INTRINSIC
low complexity region	790	801	N/A	INTRINSIC
low complexity region	822	832	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000202578

SMART Domains

Protein: ENSMUSP00000143955
Gene: ENSMUSG00000026825

Domain	Start	End	E-Value	Type
DYNc	6	245	1.38e-177	SMART
PH	520	627	2.7e-10	SMART
GED	654	745	9.51e-32	SMART
low complexity region	747	761	N/A	INTRINSIC
low complexity region	783	816	N/A	INTRINSIC
low complexity region	819	830	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (68/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	A	T	4: 137,454,594	N20I	probably damaging	Het
1700020D05Rik	T	A	19: 5,503,007	S249C	probably damaging	Het
4930558K02Rik	A	G	1: 161,957,149	S74P	probably benign	Het
4932415D10Rik	T	A	10: 82,294,656	N840I	probably damaging	Het
Abcb6	A	T	1: 75,174,845		probably null	Het
Adamts14	C	A	10: 61,246,057	A234S	probably benign	Het
Ankrd42	A	G	7: 92,619,635	S167P	probably benign	Het
Ap3m1	T	C	14: 21,038,175	I272V	probably benign	Het
Armt1	T	C	10: 4,453,572	F219S	probably damaging	Het
Atr	T	G	9: 95,907,293		probably null	Het
Cep72	G	A	13: 74,058,488	Q72*	probably null	Het
Clock	G	T	5: 76,248,378	L175M	possibly damaging	Het
Cnmd	T	A	14: 79,661,534	Y26F	possibly damaging	Het
Col6a6	A	T	9: 105,785,744	M198K	possibly damaging	Het
Cuta	C	T	17: 26,938,422	V135I	probably benign	Het
Ddx41	A	T	13: 55,534,239	M241K	possibly damaging	Het
Dnajc22	A	G	15: 99,101,114	N60S	probably damaging	Het
Drc3	A	G	11: 60,388,904	M432V	probably benign	Het
Eef1d	C	A	15: 75,902,707	G368C	probably damaging	Het
En2	A	T	5: 28,170,166	K236*	probably null	Het
Fas	A	G	19: 34,307,164	T24A	possibly damaging	Het
Gm13078	T	C	4: 143,726,706	V128A	probably benign	Het
Gprin2	G	T	14: 34,195,753	A20D	probably benign	Het
Ighv14-4	A	T	12: 114,176,444	C115*	probably null	Het
Impdh2	T	C	9: 108,565,181	Y459H	possibly damaging	Het
Klhdc7b	G	T	15: 89,387,260	V124L	possibly damaging	Het
L2hgdh	A	T	12: 69,721,357	Y122*	probably null	Het
Lamc2	A	T	1: 153,136,804	I708N	possibly damaging	Het
Large2	T	C	2: 92,374,705	M1V	probably null	Het
Lrit2	T	C	14: 37,072,124	W382R	probably damaging	Het
Mcee	T	A	7: 64,411,968	V173E	probably damaging	Het
Mcph1	T	A	8: 18,632,326	V493E	probably benign	Het
Mfap4	A	G	11: 61,487,087	N118D	probably damaging	Het
Mknk2	T	C	10: 80,668,566	S301G	probably benign	Het
Mlf1	G	A	3: 67,392,933	M94I	possibly damaging	Het
Mrc2	T	A	11: 105,332,295	S455T	possibly damaging	Het
Mrgprb5	T	G	7: 48,168,259	I243L	probably benign	Het
Muc4	C	A	16: 32,760,105	P360T		Het
Nat10	G	A	2: 103,743,090	A354V	probably damaging	Het
Nts	T	C	10: 102,490,304	Q7R	possibly damaging	Het
Oas1b	T	C	5: 120,821,414	L288P	probably damaging	Het
Olfr1076	A	G	2: 86,508,943	I161M	possibly damaging	Het
Olfr1131	A	G	2: 87,629,092	I94V	probably benign	Het
Olfr1196	T	A	2: 88,700,886	I148L	probably benign	Het
Olfr633	A	T	7: 103,946,943	I126F	probably damaging	Het
Otoa	A	G	7: 121,145,626	E869G	probably damaging	Het
Pcdhac2	T	C	18: 37,144,525	L186P	probably damaging	Het
Plekhh2	A	G	17: 84,610,776	E1271G	possibly damaging	Het
Pmepa1	C	T	2: 173,276,163	A8T	probably benign	Het
Rc3h2	A	G	2: 37,377,849		probably null	Het
Rlf	T	A	4: 121,146,801	M1771L	possibly damaging	Het
Rpap1	G	A	2: 119,764,410	P1372L	possibly damaging	Het
Rragd	A	T	4: 32,983,527	D22V	probably benign	Het
Sema3f	A	T	9: 107,683,575	S644R	probably benign	Het
Sp110	G	A	1: 85,579,092	R417C	probably benign	Het
Specc1l	T	A	10: 75,257,869	N717K	probably damaging	Het
Sphkap	C	T	1: 83,278,928	D367N	possibly damaging	Het
Tbc1d21	C	T	9: 58,361,261	V272M	probably damaging	Het
Tmem132c	A	G	5: 127,563,006	D747G	probably damaging	Het
Tmem56	A	G	3: 121,235,041		probably null	Het
Trim2	C	A	3: 84,190,906	V372F	probably benign	Het
Ttc34	A	G	4: 154,861,384	T292A	probably benign	Het
Ube3b	A	G	5: 114,415,323	T919A	probably benign	Het
Wdr34	T	G	2: 30,031,768	D527A	probably benign	Het
Zfhx4	T	C	3: 5,412,480	I3385T	probably benign	Het
Zfp423	T	C	8: 87,781,277	K813R	probably damaging	Het
Zfp850	T	C	7: 27,989,209	T525A	probably benign	Het
Zfp873	T	C	10: 82,060,275	I280T	possibly damaging	Het
Zkscan7	A	G	9: 122,896,056	T697A	possibly 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
R1522:Golga2	UTSW	2	32302204	missense	probably benign	0.01
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
R8219:Golga2	UTSW	2	32306480	missense	probably damaging	1.00
R8554:Golga2	UTSW	2	32293345	missense	probably damaging	1.00
R9071:Golga2	UTSW	2	32288352	missense	probably damaging	1.00
R9127:Golga2	UTSW	2	32306067	missense
R9214:Golga2	UTSW	2	32305810	missense	probably damaging	1.00
R9537:Golga2	UTSW	2	32288301	unclassified	probably benign
R9643:Golga2	UTSW	2	32303862	missense	probably damaging	0.97
R9716:Golga2	UTSW	2	32299275	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAAGAATACATCAGCCGGC -3'
(R):5'- TATATCGTCAGCCAGGCTCAC -3'

Sequencing Primer
(F):5'- GCTGGCTCAGGACAAGG -3'
(R):5'- CCTCCCTGAGGTCTTTAGAGAAAG -3'

Posted On

2019-10-24