Mutagenetix > Incidental Mutation

Incidental Mutation 'R4783:Golga2'

366689

Institutional Source

Beutler Lab

Gene Symbol

Golga2

Ensembl Gene

ENSMUSG00000002546

Gene Name

golgin A2

Synonyms

GM130

MMRRC Submission

042416-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.875) question?

Stock #

R4783 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32178299-32197925 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32187168 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 89 (N89K)

Ref Sequence

ENSEMBL: ENSMUSP00000080374 (fasta)

Gene Model

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

AlphaFold

Q921M4

Predicted Effect

probably damaging
Transcript: ENSMUST00000081670
AA Change: N89K

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

SMART Domains

Protein: ENSMUSP00000080374
Gene: ENSMUSG00000002546
AA Change: N89K

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 damaging
Transcript: ENSMUST00000100194
AA Change: N159K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097768
Gene: ENSMUSG00000002546
AA Change: N159K

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 damaging
Transcript: ENSMUST00000113377
AA Change: N132K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109004
Gene: ENSMUSG00000002546
AA Change: N132K

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 damaging
Transcript: ENSMUST00000129193
AA Change: N118K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000115003
Gene: ENSMUSG00000002546
AA Change: N118K

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: N93K

SMART Domains

Protein: ENSMUSP00000114169
Gene: ENSMUSG00000002546
AA Change: N93K

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

unknown
Transcript: ENSMUST00000147707
AA Change: N146K

SMART Domains

Protein: ENSMUSP00000121886
Gene: ENSMUSG00000002546
AA Change: N146K

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

unknown
Transcript: ENSMUST00000139494
AA Change: N169K

SMART Domains

Protein: ENSMUSP00000117476
Gene: ENSMUSG00000002546
AA Change: N169K

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

Meta Mutation Damage Score

0.1029

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

100% (99/99)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082J24Rik	G	A	5: 30,310,198 (GRCm39)	R54*	probably null	Het
Acsl6	A	T	11: 54,227,819 (GRCm39)	M350L	probably damaging	Het
Adgrv1	T	C	13: 81,243,564 (GRCm39)	T6279A	probably damaging	Het
Ago3	A	T	4: 126,262,296 (GRCm39)	M418K	probably benign	Het
Ascc2	G	A	11: 4,596,653 (GRCm39)	R58H	probably benign	Het
Brinp3	A	G	1: 146,603,378 (GRCm39)		probably benign	Het
Carmil3	T	C	14: 55,738,778 (GRCm39)		probably null	Het
Ccdc47	T	A	11: 106,094,430 (GRCm39)	H7L	probably benign	Het
Ccndbp1	A	T	2: 120,839,003 (GRCm39)	T5S	probably benign	Het
Cdr2	A	T	7: 120,557,644 (GRCm39)	F294I	probably benign	Het
Chd8	C	A	14: 52,442,825 (GRCm39)	C575F	probably damaging	Het
Ctsll3	G	A	13: 60,948,209 (GRCm39)	T156I	probably damaging	Het
Dgcr8	G	A	16: 18,076,174 (GRCm39)	R4*	probably null	Het
Dnah1	T	A	14: 30,985,436 (GRCm39)	K3818N	probably damaging	Het
Dok2	C	T	14: 71,015,314 (GRCm39)	P347L	probably benign	Het
Elf1	T	A	14: 79,818,183 (GRCm39)	N567K	probably benign	Het
Emsy	T	C	7: 98,295,686 (GRCm39)	N72S	possibly damaging	Het
Fam76a	A	G	4: 132,643,501 (GRCm39)	Y78H	probably damaging	Het
Fam76a	A	T	4: 132,629,428 (GRCm39)		probably null	Het
Fbn1	A	T	2: 125,166,839 (GRCm39)	C2026S	probably damaging	Het
Fbxo4	T	C	15: 3,998,523 (GRCm39)	T312A	probably benign	Het
Fhip1a	G	T	3: 85,595,877 (GRCm39)	T115K	probably damaging	Het
Flnb	A	T	14: 7,905,701 (GRCm38)	E1150D	probably benign	Het
Galt	T	C	4: 41,758,189 (GRCm39)	V318A	probably damaging	Het
Git1	T	G	11: 77,390,663 (GRCm39)	L133R	probably damaging	Het
Gm11168	G	A	9: 3,006,915 (GRCm39)	M213I	probably benign	Het
Gm7233	A	G	14: 43,037,423 (GRCm39)	E25G	probably benign	Het
Grin1	T	A	2: 25,182,393 (GRCm39)	H956L	possibly damaging	Het
Hlcs	C	T	16: 94,069,398 (GRCm39)	V164I	possibly damaging	Het
Hmgcr	G	A	13: 96,802,701 (GRCm39)	T66M	probably damaging	Het
Ifi206	A	T	1: 173,308,432 (GRCm39)	H521Q	probably benign	Het
Lgals3bp	G	A	11: 118,284,340 (GRCm39)	T413I	probably damaging	Het
Lrrc7	A	G	3: 157,832,850 (GRCm39)		probably null	Het
Mapk11	T	C	15: 89,033,691 (GRCm39)	Y9C	probably damaging	Het
Mccc1	C	A	3: 36,030,022 (GRCm39)	M429I	probably damaging	Het
Metrnl	A	G	11: 121,598,750 (GRCm39)	E40G	probably benign	Het
Mrgpra1	A	G	7: 46,985,218 (GRCm39)	S154P	probably damaging	Het
Myh13	A	T	11: 67,232,096 (GRCm39)	I459F	probably damaging	Het
Nalf1	T	C	8: 9,258,026 (GRCm39)	Y374C	probably damaging	Het
Nedd4l	C	A	18: 65,305,998 (GRCm39)	D424E	probably damaging	Het
Nid1	C	T	13: 13,674,326 (GRCm39)	R902W	probably damaging	Het
Nphp4	G	A	4: 152,639,003 (GRCm39)	R878K	probably benign	Het
Numa1	A	G	7: 101,662,773 (GRCm39)	T1997A	probably damaging	Het
Nutm1	G	A	2: 112,079,281 (GRCm39)	A878V	probably benign	Het
Nxf1	G	A	19: 8,744,162 (GRCm39)	A339T	probably benign	Het
Oas1b	C	A	5: 120,952,578 (GRCm39)	Q90K	probably benign	Het
Optn	T	C	2: 5,059,438 (GRCm39)	M27V	probably benign	Het
Or1r1	A	G	11: 73,874,834 (GRCm39)	F200S	probably damaging	Het
Or2t35	A	C	14: 14,407,729 (GRCm38)	Y167S	possibly damaging	Het
Or4f56	A	T	2: 111,703,395 (GRCm39)	D268E	possibly damaging	Het
Or5ac17	G	T	16: 59,036,222 (GRCm39)	F251L	probably damaging	Het
Or5d45	A	G	2: 88,153,500 (GRCm39)	I183T	probably damaging	Het
Or5g29	A	G	2: 85,421,282 (GRCm39)	T133A	probably benign	Het
Or5h18	G	T	16: 58,848,260 (GRCm39)	D3E	probably benign	Het
Oxgr1	T	C	14: 120,259,776 (GRCm39)	I144V	probably benign	Het
Pax5	T	A	4: 44,570,086 (GRCm39)	T127S	probably damaging	Het
Pcsk2	T	C	2: 143,529,599 (GRCm39)		probably null	Het
Pdxk	A	G	10: 78,300,626 (GRCm39)	V19A	possibly damaging	Het
Pik3c2a	A	T	7: 116,017,060 (GRCm39)	S232R	probably damaging	Het
Ppip5k1	T	C	2: 121,171,329 (GRCm39)	D620G	possibly damaging	Het
Ppp4r4	T	A	12: 103,557,117 (GRCm39)		probably null	Het
Psmd1	A	G	1: 86,006,434 (GRCm39)	N267D	probably damaging	Het
Pudp	A	G	18: 50,701,136 (GRCm39)	V199A	probably damaging	Het
Rasal3	T	A	17: 32,615,755 (GRCm39)	D361V	probably damaging	Het
Rbm12	T	C	2: 155,938,484 (GRCm39)	D596G	possibly damaging	Het
Rbm6	T	C	9: 107,730,102 (GRCm39)	D182G	probably damaging	Het
Rif1	T	C	2: 52,002,759 (GRCm39)	V2071A	probably damaging	Het
Rilp	C	T	11: 75,401,467 (GRCm39)	A110V	possibly damaging	Het
Rprd2	A	G	3: 95,681,645 (GRCm39)	V332A	probably benign	Het
Sbpl	T	A	17: 24,172,304 (GRCm39)	D205V	unknown	Het
Scn9a	T	C	2: 66,370,967 (GRCm39)	I538V	probably benign	Het
Serpina1d	T	C	12: 103,734,083 (GRCm39)	S74G	possibly damaging	Het
Serpina3n	T	C	12: 104,375,369 (GRCm39)	I147T	possibly damaging	Het
Serpinb8	A	G	1: 107,532,472 (GRCm39)	N188S	probably benign	Het
Sipa1l3	A	G	7: 29,077,066 (GRCm39)	V902A	probably damaging	Het
Slc25a47	T	A	12: 108,821,260 (GRCm39)	L123Q	probably damaging	Het
Slc30a2	A	T	4: 134,071,317 (GRCm39)		probably null	Het
Slc66a1	G	T	4: 139,027,312 (GRCm39)	H343Q	probably benign	Het
Snx13	T	A	12: 35,148,285 (GRCm39)	D271E	probably damaging	Het
Tbc1d9b	A	G	11: 50,062,125 (GRCm39)	N1211S	probably benign	Het
Tdrd3	T	A	14: 87,709,537 (GRCm39)	I67N	probably damaging	Het
Thbs1	T	C	2: 117,945,273 (GRCm39)	V282A	probably benign	Het
Tmc8	A	G	11: 117,682,431 (GRCm39)		probably null	Het
Trim11	T	A	11: 58,879,750 (GRCm39)	F284Y	probably null	Het
Ttn	G	T	2: 76,552,141 (GRCm39)	Y29419*	probably null	Het
Ttn	A	G	2: 76,599,947 (GRCm39)	Y19076H	probably damaging	Het
Ubr4	T	C	4: 139,149,044 (GRCm39)	S448P	possibly damaging	Het
Ugt2b34	T	C	5: 87,039,332 (GRCm39)	E443G	probably damaging	Het
Usp29	A	G	7: 6,964,390 (GRCm39)	T78A	probably damaging	Het
Vmn1r227	A	G	17: 20,955,396 (GRCm39)		noncoding transcript	Het
Vmn1r85	A	T	7: 12,818,788 (GRCm39)	W119R	probably damaging	Het
Vmn2r12	A	T	5: 109,234,379 (GRCm39)	V611E	probably damaging	Het
Vmn2r97	A	T	17: 19,149,550 (GRCm39)	M313L	probably benign	Het
Zap70	T	C	1: 36,818,254 (GRCm39)	Y314H	probably damaging	Het
Zfp667	T	A	7: 6,308,684 (GRCm39)	F451I	possibly damaging	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
R1459:Golga2	UTSW	2	32,187,807 (GRCm39)	splice site	probably null
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
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'- TACAGAGCCATGATGCTGGC -3'
(R):5'- AGCAGAATCTCCTTTCCTGC -3'

Sequencing Primer
(F):5'- GCAATTGCTCTAACCTCATGGAGG -3'
(R):5'- GCTCAACAGCTGTCACCTC -3'

Posted On

2015-12-29