Mutagenetix > Incidental Mutation

Incidental Mutation 'R7395:Golga2'

573705

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 #

R7395 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32287384-32307921 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 32305587 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 798 (P798Q)

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

possibly damaging
Transcript: ENSMUST00000081670
AA Change: P728Q

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000080374
Gene: ENSMUSG00000002546
AA Change: P728Q

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

possibly damaging
Transcript: ENSMUST00000100194
AA Change: P798Q

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097768
Gene: ENSMUSG00000002546
AA Change: P798Q

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

possibly damaging
Transcript: ENSMUST00000113377
AA Change: P771Q

PolyPhen 2 Score 0.639 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000109004
Gene: ENSMUSG00000002546
AA Change: P771Q

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: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (92/93)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3830403N18Rik	G	T	X: 56,138,780		probably null	Het
4930433I11Rik	A	T	7: 40,989,678	T13S	probably damaging	Het
Abca13	A	G	11: 9,291,658	I1174V	probably benign	Het
Acoxl	G	A	2: 127,884,416	V237M	probably damaging	Het
Adam33	A	C	2: 131,061,169	W52G	probably benign	Het
Adgrv1	T	C	13: 81,559,348	H1313R	probably damaging	Het
Ap3d1	T	C	10: 80,730,882	T89A	probably benign	Het
Armc8	T	C	9: 99,533,132	E165G	probably damaging	Het
Atp6v1c1	T	C	15: 38,691,705	*383Q	probably null	Het
Atp8b4	A	T	2: 126,375,694	L634Q	possibly damaging	Het
B3glct	A	G	5: 149,725,604		probably null	Het
Bhlhe40	TG	TGG	6: 108,664,857	254	probably null	Het
Bicd2	A	G	13: 49,378,230	D316G	possibly damaging	Het
Bop1	A	T	15: 76,453,841	S610T	probably damaging	Het
Car11	T	A	7: 45,701,321	Y80*	probably null	Het
Ccdc96	T	C	5: 36,485,265	I205T	probably benign	Het
Ces2a	A	G	8: 104,739,641	E390G	probably benign	Het
Cfap54	C	A	10: 92,884,703	V2630L	unknown	Het
Chek2	G	T	5: 110,872,108		probably null	Het
Cntn3	C	T	6: 102,337,394		probably null	Het
Cpne3	A	T	4: 19,528,239	D339E	probably damaging	Het
Crocc2	C	T	1: 93,216,107	Q1403*	probably null	Het
Csnka2ip	G	A	16: 64,479,440	T187I		Het
Ctu1	A	G	7: 43,676,595	H226R	possibly damaging	Het
Cubn	G	T	2: 13,287,064	Q3317K	probably damaging	Het
Cyp17a1	A	G	19: 46,670,695	L169P	probably benign	Het
Dcc	T	A	18: 71,374,569	K911*	probably null	Het
Dcun1d2	G	A	8: 13,278,675	R75*	probably null	Het
Defb19	A	T	2: 152,580,023		probably null	Het
Dffb	A	T	4: 153,969,113	S257R	probably damaging	Het
Dip2c	A	C	13: 9,614,377	N942T	probably damaging	Het
Dnah3	T	A	7: 119,966,251	I169F		Het
Dnah3	T	C	7: 120,060,960	M830V	probably benign	Het
Dnajc5g	G	A	5: 31,111,665	S130N	possibly damaging	Het
Dscaml1	C	A	9: 45,702,405	Q939K	possibly damaging	Het
Evpl	G	C	11: 116,227,079	N761K	possibly damaging	Het
Fbxw8	A	T	5: 118,068,215	I556N	probably damaging	Het
Fry	G	T	5: 150,380,883	M579I	possibly damaging	Het
Ggt7	A	T	2: 155,495,880	M488K	probably benign	Het
Gm6588	A	T	5: 112,450,169	E194V	possibly damaging	Het
Gnpnat1	T	A	14: 45,381,581	H107L	probably benign	Het
Gpr35	G	A	1: 92,983,207	A214T	probably damaging	Het
Greb1	A	T	12: 16,709,430		probably null	Het
Hdac10	G	A	15: 89,128,284	T32I	probably benign	Het
Hkdc1	G	A	10: 62,385,699	T860I	probably damaging	Het
Icam5	C	A	9: 21,035,442	P422Q	possibly damaging	Het
Ispd	A	T	12: 36,501,995	I283F	possibly damaging	Het
Ist1	A	C	8: 109,677,527	S238A	probably benign	Het
Lrig2	T	C	3: 104,497,520	N91D	probably benign	Het
Mapt	A	C	11: 104,328,123	D352A	probably damaging	Het
Micall2	G	A	5: 139,716,369	P373L	possibly damaging	Het
Mocs1	A	G	17: 49,454,557	S560G	possibly damaging	Het
Mpo	A	G	11: 87,801,124	D461G	probably damaging	Het
Myo1a	G	T	10: 127,710,440	V271L	probably damaging	Het
Ncoa1	G	A	12: 4,295,188	P720S	not run	Het
Ncr1	T	A	7: 4,338,151	I47N	probably damaging	Het
Ndufb6	G	A	4: 40,277,730	R66C	probably damaging	Het
Obox5	A	T	7: 15,758,743	S208C	probably damaging	Het
Olfr136	A	T	17: 38,335,864	K236*	probably null	Het
Olfr1494	T	C	19: 13,749,138	S11P	probably damaging	Het
Olfr39	T	A	9: 20,286,530	M285K	probably damaging	Het
Olfr501-ps1	T	A	7: 108,508,404	F116Y	unknown	Het
Padi4	A	C	4: 140,761,672	V152G	probably damaging	Het
Pdzd7	A	T	19: 45,037,011	D348E	probably damaging	Het
Pdzph1	T	A	17: 58,879,159	K1212N	possibly damaging	Het
Piezo2	C	T	18: 63,027,563	G2341R	probably damaging	Het
Plb1	A	G	5: 32,353,684	K1298E	probably benign	Het
Prr14l	A	G	5: 32,828,638	L1171P	probably benign	Het
Rab11fip5	T	C	6: 85,341,868	T680A	probably benign	Het
Rev1	A	T	1: 38,088,065	N371K	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,926		probably benign	Het
Ryr2	A	G	13: 11,785,111	C917R	probably damaging	Het
Sall1	A	T	8: 89,030,921	S852T	possibly damaging	Het
Serpine2	A	G	1: 79,801,555	F296L	probably damaging	Het
Slc12a6	A	T	2: 112,352,542	N754I	probably damaging	Het
Slc39a6	A	T	18: 24,585,275	L575Q	probably damaging	Het
Smarcc2	T	A	10: 128,485,606	L890Q	probably damaging	Het
Smg5	T	A	3: 88,361,071	V1006D	probably damaging	Het
Ssh2	T	C	11: 77,393,073	V51A	probably damaging	Het
St14	T	C	9: 31,096,899	K547E	probably benign	Het
Stag1	T	G	9: 100,796,728	V234G	probably damaging	Het
Stag3	A	T	5: 138,281,945	Q24L	probably benign	Het
Stra6	T	C	9: 58,141,097	Y158H	probably damaging	Het
Tcstv1	A	T	13: 119,894,130		probably null	Het
Tmem196	G	A	12: 120,011,267	C62Y	probably damaging	Het
Tmem265	T	A	7: 127,564,867	F84L		Het
Tph1	C	T	7: 46,657,203		probably null	Het
Ttn	A	G	2: 76,946,490	I1522T	unknown	Het
Ulk4	T	A	9: 121,255,112	Q129L	probably benign	Het
Usp17la	T	A	7: 104,861,585	S466T	probably benign	Het
Vmn2r31	A	T	7: 7,384,745	V609E	probably damaging	Het
Vmn2r52	C	T	7: 10,170,817	C365Y	probably benign	Het
Zbtb4	A	T	11: 69,776,111	T81S	possibly damaging	Het
Zfp605	A	T	5: 110,112,019		probably benign	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
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
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'- TGCCACTTTGTGCCTGGAAG -3'
(R):5'- ATGCAGCAATGTTCAAGCTC -3'

Sequencing Primer
(F):5'- TGGAAGCCAGTGGTCAGTCTC -3'
(R):5'- TCCTGCATGACCTCCAGGAAG -3'

Posted On

2019-09-13