Mutagenetix > Incidental Mutation

Incidental Mutation 'R1459:Golga2'

161938

Institutional Source

Beutler Lab

Gene Symbol

Golga2

Ensembl Gene

ENSMUSG00000002546

Gene Name

golgin A2

Synonyms

GM130

MMRRC Submission

039514-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.875) question?

Stock #

R1459 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32178299-32197925 bp(+) (GRCm39)

Type of Mutation

splice site (19 bp from exon)

DNA Base Change (assembly)

T to G at 32187807 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117476 (fasta)

Gene Model

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

AlphaFold

Q921M4

Predicted Effect

probably null
Transcript: ENSMUST00000081670
AA Change: Y127*

SMART Domains

Protein: ENSMUSP00000080374
Gene: ENSMUSG00000002546
AA Change: Y127*

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 null
Transcript: ENSMUST00000100194
AA Change: Y197*

SMART Domains

Protein: ENSMUSP00000097768
Gene: ENSMUSG00000002546
AA Change: Y197*

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 null
Transcript: ENSMUST00000113377
AA Change: Y170*

SMART Domains

Protein: ENSMUSP00000109004
Gene: ENSMUSG00000002546
AA Change: Y170*

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

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 null
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

noncoding transcript
Transcript: ENSMUST00000149141

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.5%

Validation Efficiency

96% (87/91)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	C	T	4: 62,450,578 (GRCm39)	R51W	probably damaging	Het
Abcb1a	T	A	5: 8,752,920 (GRCm39)	L557Q	probably damaging	Het
Abcb4	T	C	5: 8,968,662 (GRCm39)	F334L	possibly damaging	Het
Adamts14	T	A	10: 61,034,583 (GRCm39)	T1102S	probably benign	Het
Adamtsl1	T	C	4: 86,344,102 (GRCm39)	Y1719H	probably damaging	Het
Adcyap1	T	C	17: 93,507,550 (GRCm39)		probably null	Het
Ankrd13c	T	A	3: 157,677,947 (GRCm39)	L219Q	probably damaging	Het
Ano3	C	A	2: 110,711,174 (GRCm39)	A97S	probably benign	Het
Apaf1	T	C	10: 90,898,022 (GRCm39)	N245S	probably benign	Het
Apob	A	G	12: 8,056,047 (GRCm39)	T1510A	probably benign	Het
Apob	A	G	12: 8,061,937 (GRCm39)	D3473G	possibly damaging	Het
Arfgap3	G	A	15: 83,191,138 (GRCm39)	T12I	probably benign	Het
Bend4	A	G	5: 67,557,418 (GRCm39)	V466A	probably damaging	Het
Bend7	G	A	2: 4,749,239 (GRCm39)	E119K	probably damaging	Het
Capn5	G	T	7: 97,781,049 (GRCm39)	R243S	possibly damaging	Het
Cd84	A	G	1: 171,679,510 (GRCm39)	I63V	probably benign	Het
Cd86	T	A	16: 36,449,350 (GRCm39)	T16S	probably benign	Het
Cdc42bpb	A	G	12: 111,262,734 (GRCm39)		probably benign	Het
Cep20	G	A	16: 14,122,380 (GRCm39)	T128I	possibly damaging	Het
Cep95	C	T	11: 106,708,781 (GRCm39)	S26L	probably damaging	Het
Cldn19	C	T	4: 119,112,810 (GRCm39)	A14V	probably damaging	Het
Cluap1	T	A	16: 3,755,453 (GRCm39)	M356K	probably damaging	Het
Coq7	C	T	7: 118,109,260 (GRCm39)	G263S	unknown	Het
Ctnnd2	A	C	15: 30,847,445 (GRCm39)	T679P	probably damaging	Het
Dnah10	A	G	5: 124,820,750 (GRCm39)	D528G	possibly damaging	Het
Dvl1	T	A	4: 155,938,476 (GRCm39)	N133K	probably damaging	Het
Efcab7	T	G	4: 99,769,744 (GRCm39)	H550Q	probably null	Het
Fastkd5	C	T	2: 130,456,717 (GRCm39)	M624I	probably damaging	Het
Fbxo42	T	C	4: 140,895,073 (GRCm39)	V12A	probably benign	Het
Gabarapl1	T	A	6: 129,515,635 (GRCm39)	M91K	possibly damaging	Het
Gas7	A	G	11: 67,552,902 (GRCm39)	N154S	probably damaging	Het
Gm21814	T	A	6: 149,483,650 (GRCm39)		noncoding transcript	Het
Gnl3	G	A	14: 30,739,803 (GRCm39)	R12C	probably damaging	Het
Grk3	T	A	5: 113,062,878 (GRCm39)	R656S	probably benign	Het
Gsap	T	A	5: 21,412,236 (GRCm39)		probably benign	Het
H60c	T	C	10: 3,210,240 (GRCm39)	Q103R	probably benign	Het
Hnrnpr	T	A	4: 136,056,755 (GRCm39)	S252T	probably damaging	Het
Itgb4	A	T	11: 115,869,937 (GRCm39)	T40S	probably benign	Het
Krtap27-1	T	C	16: 88,468,302 (GRCm39)	N81D	probably benign	Het
Lilrb4a	T	A	10: 51,367,683 (GRCm39)	L75Q	probably benign	Het
Lrp2	T	A	2: 69,313,738 (GRCm39)	D2331V	probably damaging	Het
Lrp2	T	A	2: 69,290,821 (GRCm39)	E3546D	probably damaging	Het
Lzts2	T	A	19: 45,009,893 (GRCm39)	V9E	probably damaging	Het
Matr3	T	A	18: 35,717,709 (GRCm39)	D302E	probably benign	Het
Mcoln2	A	G	3: 145,897,979 (GRCm39)		probably null	Het
Metap2	T	C	10: 93,704,811 (GRCm39)	D272G	probably damaging	Het
Mitf	A	G	6: 97,987,428 (GRCm39)	D337G	probably damaging	Het
Mrtfb	T	C	16: 13,219,433 (GRCm39)	V693A	possibly damaging	Het
Msh2	A	G	17: 87,985,771 (GRCm39)	E116G	probably benign	Het
Nlrp10	T	A	7: 108,523,555 (GRCm39)	M642L	probably benign	Het
Noxa1	G	T	2: 24,982,558 (GRCm39)	Q86K	probably benign	Het
Nrap	T	C	19: 56,372,562 (GRCm39)	T48A	probably benign	Het
Nup160	T	A	2: 90,520,494 (GRCm39)	H308Q	probably damaging	Het
Osbpl11	T	C	16: 33,056,699 (GRCm39)	L711P	probably damaging	Het
Osbpl6	A	G	2: 76,385,409 (GRCm39)	N281S	probably benign	Het
Pcnp	C	T	16: 55,844,703 (GRCm39)	E66K	possibly damaging	Het
Phf11	T	A	14: 59,482,227 (GRCm39)	E175D	probably damaging	Het
Pik3cg	A	G	12: 32,254,983 (GRCm39)	Y335H	probably damaging	Het
Plekhg4	T	C	8: 106,108,431 (GRCm39)	L1053S	probably damaging	Het
Plekhh2	G	T	17: 84,918,203 (GRCm39)	E1271*	probably null	Het
Ppp2r2b	T	A	18: 42,871,055 (GRCm39)	Y82F	probably damaging	Het
Prkd3	T	C	17: 79,278,796 (GRCm39)	D430G	probably damaging	Het
Prl7d1	C	T	13: 27,893,240 (GRCm39)	D224N	possibly damaging	Het
Ptpdc1	A	T	13: 48,740,173 (GRCm39)	N419K	possibly damaging	Het
Serinc5	T	A	13: 92,797,695 (GRCm39)		probably null	Het
Sipa1	A	G	19: 5,701,692 (GRCm39)	L981P	probably damaging	Het
Slc16a7	A	T	10: 125,066,489 (GRCm39)	C383*	probably null	Het
Slc19a1	C	G	10: 76,878,369 (GRCm39)	Y301*	probably null	Het
Slc22a14	A	T	9: 119,052,827 (GRCm39)	V14E	possibly damaging	Het
Slpi	C	A	2: 164,196,837 (GRCm39)	C95F	probably damaging	Het
Smurf2	G	A	11: 106,743,333 (GRCm39)	H225Y	possibly damaging	Het
Son	T	C	16: 91,452,230 (GRCm39)	S326P	possibly damaging	Het
Sptb	T	A	12: 76,658,657 (GRCm39)	K1262M	probably benign	Het
Sugp2	T	A	8: 70,696,714 (GRCm39)		probably benign	Het
Tatdn2	T	A	6: 113,687,031 (GRCm39)	H747Q	probably damaging	Het
Tcn2	C	A	11: 3,877,516 (GRCm39)	R44L	probably benign	Het
Tenm3	G	A	8: 48,689,006 (GRCm39)	R2194C	probably damaging	Het
Tnks2	T	A	19: 36,822,931 (GRCm39)		probably benign	Het
Top3a	A	T	11: 60,650,188 (GRCm39)	I120N	probably damaging	Het
Umodl1	T	A	17: 31,201,232 (GRCm39)		probably benign	Het
Umodl1	T	C	17: 31,205,478 (GRCm39)	V662A	probably benign	Het
Ush2a	T	C	1: 188,595,048 (GRCm39)	S3827P	probably benign	Het
Vasn	T	A	16: 4,466,473 (GRCm39)		probably null	Het
Vmn2r69	A	T	7: 85,055,908 (GRCm39)	C743*	probably null	Het
Vmn2r79	C	A	7: 86,687,002 (GRCm39)	H794Q	probably benign	Het

Other mutations in Golga2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00531:Golga2	APN	2	32,195,226 (GRCm39)	missense	probably benign	0.01
IGL01561:Golga2	APN	2	32,186,689 (GRCm39)	missense	probably benign	0.00
IGL02396:Golga2	APN	2	32,188,656 (GRCm39)	splice site	probably benign
IGL02636:Golga2	APN	2	32,186,735 (GRCm39)	critical splice donor site	probably null
IGL02712:Golga2	APN	2	32,194,225 (GRCm39)	missense	probably damaging	1.00
IGL03172:Golga2	APN	2	32,182,168 (GRCm39)	missense	probably benign	0.04
IGL03193:Golga2	APN	2	32,195,020 (GRCm39)	missense	probably damaging	1.00
little	UTSW	2	32,195,996 (GRCm39)	nonsense	probably null
R0050:Golga2	UTSW	2	32,182,139 (GRCm39)	missense	probably damaging	0.96
R0050:Golga2	UTSW	2	32,182,139 (GRCm39)	missense	probably damaging	0.96
R0265:Golga2	UTSW	2	32,194,964 (GRCm39)	splice site	probably null
R0440:Golga2	UTSW	2	32,192,945 (GRCm39)	missense	probably damaging	1.00
R0644:Golga2	UTSW	2	32,187,533 (GRCm39)	missense	probably damaging	1.00
R0825:Golga2	UTSW	2	32,194,803 (GRCm39)	missense	probably damaging	1.00
R1179:Golga2	UTSW	2	32,193,707 (GRCm39)	missense	possibly damaging	0.50
R1447:Golga2	UTSW	2	32,187,788 (GRCm39)	missense	possibly damaging	0.69
R1517:Golga2	UTSW	2	32,195,996 (GRCm39)	nonsense	probably null
R1522:Golga2	UTSW	2	32,192,216 (GRCm39)	missense	probably benign	0.01
R1599:Golga2	UTSW	2	32,193,185 (GRCm39)	missense	probably benign	0.00
R1702:Golga2	UTSW	2	32,189,287 (GRCm39)	missense	probably damaging	1.00
R1716:Golga2	UTSW	2	32,192,909 (GRCm39)	missense	probably damaging	1.00
R1777:Golga2	UTSW	2	32,195,482 (GRCm39)	splice site	probably null
R1781:Golga2	UTSW	2	32,196,588 (GRCm39)	missense	probably damaging	1.00
R2229:Golga2	UTSW	2	32,196,477 (GRCm39)	missense	probably benign	0.06
R2484:Golga2	UTSW	2	32,194,782 (GRCm39)	missense	probably benign	0.32
R2972:Golga2	UTSW	2	32,195,671 (GRCm39)	missense	probably benign	0.16
R3411:Golga2	UTSW	2	32,192,954 (GRCm39)	missense	probably damaging	0.98
R3851:Golga2	UTSW	2	32,195,623 (GRCm39)	missense	probably benign	0.30
R3852:Golga2	UTSW	2	32,195,623 (GRCm39)	missense	probably benign	0.30
R4130:Golga2	UTSW	2	32,178,178 (GRCm39)	missense	probably benign	0.07
R4783:Golga2	UTSW	2	32,187,168 (GRCm39)	missense	probably damaging	1.00
R4784:Golga2	UTSW	2	32,187,168 (GRCm39)	missense	probably damaging	1.00
R4785:Golga2	UTSW	2	32,187,168 (GRCm39)	missense	probably damaging	1.00
R4808:Golga2	UTSW	2	32,193,226 (GRCm39)	missense	probably benign	0.00
R5103:Golga2	UTSW	2	32,193,758 (GRCm39)	missense	probably benign	0.09
R5261:Golga2	UTSW	2	32,194,166 (GRCm39)	missense	probably benign	0.02
R5315:Golga2	UTSW	2	32,193,773 (GRCm39)	missense	probably damaging	1.00
R5508:Golga2	UTSW	2	32,178,199 (GRCm39)	nonsense	probably null
R5627:Golga2	UTSW	2	32,196,059 (GRCm39)	nonsense	probably null
R5921:Golga2	UTSW	2	32,187,767 (GRCm39)	missense	probably benign	0.00
R6678:Golga2	UTSW	2	32,189,072 (GRCm39)	missense	probably damaging	0.99
R7365:Golga2	UTSW	2	32,193,013 (GRCm39)	nonsense	probably null
R7390:Golga2	UTSW	2	32,178,202 (GRCm39)	missense
R7395:Golga2	UTSW	2	32,195,599 (GRCm39)	missense	possibly damaging	0.94
R7555:Golga2	UTSW	2	32,178,178 (GRCm39)	missense	probably benign	0.07
R7640:Golga2	UTSW	2	32,196,251 (GRCm39)	missense	probably benign
R8219:Golga2	UTSW	2	32,196,492 (GRCm39)	missense	probably damaging	1.00
R8554:Golga2	UTSW	2	32,183,357 (GRCm39)	missense	probably damaging	1.00
R9071:Golga2	UTSW	2	32,178,364 (GRCm39)	missense	probably damaging	1.00
R9127:Golga2	UTSW	2	32,196,079 (GRCm39)	missense
R9214:Golga2	UTSW	2	32,195,822 (GRCm39)	missense	probably damaging	1.00
R9537:Golga2	UTSW	2	32,178,313 (GRCm39)	unclassified	probably benign
R9643:Golga2	UTSW	2	32,193,874 (GRCm39)	missense	probably damaging	0.97
R9716:Golga2	UTSW	2	32,189,287 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTACATCCTACATCAACGGGGAGG -3'
(R):5'- AGAGCCACAAGATCCATGCTGC -3'

Sequencing Primer
(F):5'- TCTTCCAACATGAAGGAACTGG -3'
(R):5'- ATGCTCTATGCTCTGGGTGC -3'

Posted On

2014-03-14