Mutagenetix > Incidental Mutation

Incidental Mutation 'R7365:Golga2'

571676

Institutional Source

Beutler Lab

Gene Symbol

Golga2

Ensembl Gene

ENSMUSG00000002546

Gene Name

golgin A2

Synonyms

GM130

MMRRC Submission

045449-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.875) question?

Stock #

R7365 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32178299-32197925 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 32193013 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 444 (Q444*)

Ref Sequence

ENSEMBL: ENSMUSP00000097768 (fasta)

Gene Model

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

AlphaFold

Q921M4

Predicted Effect

probably null
Transcript: ENSMUST00000081670
AA Change: Q374*

SMART Domains

Protein: ENSMUSP00000080374
Gene: ENSMUSG00000002546
AA Change: Q374*

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: Q444*

SMART Domains

Protein: ENSMUSP00000097768
Gene: ENSMUSG00000002546
AA Change: Q444*

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: Q417*

SMART Domains

Protein: ENSMUSP00000109004
Gene: ENSMUSG00000002546
AA Change: Q417*

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: 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: 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

0.9701

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (96/96)

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	C	5: 138,561,198 (GRCm39)	S155G	probably benign	Het
Abcc4	T	C	14: 118,865,066 (GRCm39)	N320S	probably damaging	Het
Akr1c19	G	A	13: 4,287,069 (GRCm39)	R96H	probably benign	Het
Ankrd17	T	C	5: 90,439,010 (GRCm39)	D451G	possibly damaging	Het
Ano8	T	A	8: 71,937,754 (GRCm39)	D36V	probably damaging	Het
Aqp3	A	G	4: 41,098,003 (GRCm39)	V36A	probably benign	Het
Atf7ip	A	G	6: 136,537,708 (GRCm39)	T314A	probably benign	Het
Atp2c1	A	T	9: 105,300,198 (GRCm39)	D700E	probably damaging	Het
Axin2	G	A	11: 108,830,202 (GRCm39)	V341M	possibly damaging	Het
Bin3	A	G	14: 70,371,976 (GRCm39)	Q139R	probably damaging	Het
Brca2	A	G	5: 150,455,802 (GRCm39)	D181G	probably damaging	Het
Capn3	A	G	2: 120,325,295 (GRCm39)	E466G	probably damaging	Het
Ccdc14	T	A	16: 34,543,989 (GRCm39)	Y830*	probably null	Het
Cdk12	T	C	11: 98,111,910 (GRCm39)	F723L	unknown	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Cip2a	T	A	16: 48,822,016 (GRCm39)	S215T	probably benign	Het
Clca3a2	T	A	3: 144,804,545 (GRCm39)	I61F	probably damaging	Het
Clca4b	T	C	3: 144,628,529 (GRCm39)	T393A	not run	Het
Cldn5	G	A	16: 18,595,845 (GRCm39)	A34T	probably damaging	Het
Cobll1	A	T	2: 64,928,717 (GRCm39)	S870T	probably damaging	Het
Col12a1	T	C	9: 79,613,642 (GRCm39)	K68E	probably damaging	Het
Crnn	A	T	3: 93,055,841 (GRCm39)	Q209L	probably damaging	Het
Cwf19l1	A	T	19: 44,120,579 (GRCm39)	F45I	probably damaging	Het
Cyfip2	T	A	11: 46,098,267 (GRCm39)	K1052*	probably null	Het
D930020B18Rik	G	A	10: 121,503,716 (GRCm39)		probably null	Het
Dcc	G	A	18: 71,959,194 (GRCm39)	P193S	probably damaging	Het
Dda1	T	A	8: 71,927,137 (GRCm39)	C48S	probably benign	Het
Disc1	A	G	8: 125,881,780 (GRCm39)	R572G	probably damaging	Het
Dnah7a	A	T	1: 53,536,297 (GRCm39)	M2582K	probably benign	Het
Dsel	C	T	1: 111,789,303 (GRCm39)	G411S	probably damaging	Het
Dynlrb2	T	C	8: 117,241,696 (GRCm39)	V80A	probably benign	Het
Eif3a	A	T	19: 60,755,082 (GRCm39)	D1033E	unknown	Het
Enam	C	A	5: 88,649,347 (GRCm39)	H285Q	possibly damaging	Het
Ep400	T	C	5: 110,867,480 (GRCm39)	D980G	unknown	Het
Epha7	C	T	4: 28,871,937 (GRCm39)	S422L	probably benign	Het
Erc2	A	C	14: 27,762,346 (GRCm39)	D703A	probably damaging	Het
Ezh2	G	T	6: 47,510,692 (GRCm39)	S639*	probably null	Het
Fbn1	G	A	2: 125,193,969 (GRCm39)	H1333Y	probably damaging	Het
Flad1	A	G	3: 89,315,972 (GRCm39)	S197P	possibly damaging	Het
Foxl3	A	G	5: 138,806,736 (GRCm39)	H82R	probably damaging	Het
Gfm2	G	T	13: 97,279,529 (GRCm39)	C26F	probably benign	Het
Gp5	A	T	16: 30,127,426 (GRCm39)	V416D	probably damaging	Het
Gpat2	A	G	2: 127,268,901 (GRCm39)		probably null	Het
Gpr137c	A	G	14: 45,516,471 (GRCm39)	D353G	probably damaging	Het
Hoxa13	A	C	6: 52,236,862 (GRCm39)	W133G	probably damaging	Het
Hydin	A	T	8: 111,284,294 (GRCm39)	I3189F	probably damaging	Het
Hydin	A	T	8: 111,327,905 (GRCm39)	K4804M	probably damaging	Het
Ice2	T	C	9: 69,307,794 (GRCm39)	F26S	probably damaging	Het
Ints11	T	C	4: 155,956,687 (GRCm39)		probably null	Het
Ipo5	A	G	14: 121,157,497 (GRCm39)	I112V	probably benign	Het
Itgax	T	A	7: 127,734,481 (GRCm39)	S346R	probably damaging	Het
Kcnj13	T	A	1: 87,316,739 (GRCm39)	M125L	probably damaging	Het
Lmbrd1	T	A	1: 24,783,948 (GRCm39)	V359E	possibly damaging	Het
Lrrc7	T	G	3: 157,903,798 (GRCm39)	K287N	probably damaging	Het
Mau2	C	T	8: 70,481,884 (GRCm39)	A191T	possibly damaging	Het
Mkx	C	A	18: 7,000,747 (GRCm39)	R65L	possibly damaging	Het
Mroh4	T	A	15: 74,482,220 (GRCm39)	K746*	probably null	Het
Myh4	A	G	11: 67,133,674 (GRCm39)	T238A	probably damaging	Het
Nlrp9c	T	A	7: 26,070,822 (GRCm39)	N920Y	possibly damaging	Het
Nr4a3	T	G	4: 48,051,290 (GRCm39)	S15A	possibly damaging	Het
Ntn4	T	C	10: 93,480,666 (GRCm39)	L130P	probably damaging	Het
Or2ag13	A	G	7: 106,313,171 (GRCm39)	V239A	probably benign	Het
Or4a68	A	G	2: 89,270,542 (GRCm39)	V27A	probably benign	Het
Or4f59	A	T	2: 111,873,359 (GRCm39)	V6E	possibly damaging	Het
Or56a42-ps1	T	A	7: 104,777,552 (GRCm39)	I21F	probably benign	Het
Or8d23	A	T	9: 38,842,072 (GRCm39)	I202F	probably damaging	Het
Otog	T	C	7: 45,947,732 (GRCm39)	L110P	probably damaging	Het
Platr25	G	A	13: 62,848,719 (GRCm39)	H48Y	probably benign	Het
Plcxd2	T	C	16: 45,800,789 (GRCm39)	E145G	probably damaging	Het
Pltp	A	T	2: 164,696,242 (GRCm39)	N143K	probably damaging	Het
Pnpt1	T	C	11: 29,111,334 (GRCm39)	Y735H	probably damaging	Het
Prom1	A	G	5: 44,178,173 (GRCm39)	Y520H	probably damaging	Het
Rag2	A	G	2: 101,461,118 (GRCm39)	Y476C	probably damaging	Het
Rdh16f2	A	G	10: 127,712,893 (GRCm39)	Y297C	probably damaging	Het
Ryr1	T	C	7: 28,785,180 (GRCm39)	E1844G	probably benign	Het
Ryr2	A	G	13: 11,655,161 (GRCm39)	C3679R	probably damaging	Het
Sirt1	A	G	10: 63,157,782 (GRCm39)	I544T	probably benign	Het
Slc26a10	A	T	10: 127,012,716 (GRCm39)	I382N	possibly damaging	Het
Sox2	C	A	3: 34,705,121 (GRCm39)	P186Q	possibly damaging	Het
Spata31e5	A	T	1: 28,819,233 (GRCm39)	M16K	probably benign	Het
Tnpo3	A	G	6: 29,556,995 (GRCm39)	L752P	probably damaging	Het
Top2b	T	A	14: 16,416,649 (GRCm38)	N1136K	probably benign	Het
Tpsg1	G	T	17: 25,592,184 (GRCm39)	G86V	probably damaging	Het
Ttf2	C	A	3: 100,870,618 (GRCm39)	D152Y	possibly damaging	Het
Txndc15	T	C	13: 55,862,601 (GRCm39)	L4P	unknown	Het
Unc5a	T	C	13: 55,144,386 (GRCm39)	V237A	possibly damaging	Het
Urb1	CACTTAC	CAC	16: 90,569,461 (GRCm39)		probably benign	Het
Vav3	C	A	3: 109,535,415 (GRCm39)	P616T	possibly damaging	Het
Vmn2r15	T	A	5: 109,441,105 (GRCm39)	D251V	probably benign	Het
Vmn2r15	A	G	5: 109,445,388 (GRCm39)	L12S	probably benign	Het
Wfs1	A	C	5: 37,125,076 (GRCm39)	I605S	probably benign	Het
Wif1	G	A	10: 120,919,814 (GRCm39)	R187Q	possibly damaging	Het
Yipf1	A	G	4: 107,207,738 (GRCm39)		probably null	Het
Zdhhc20	G	T	14: 58,111,377 (GRCm39)	F74L	possibly damaging	Het
Zfp507	T	C	7: 35,475,843 (GRCm39)	T303A	unknown	Het
Zfp763	A	T	17: 33,252,352 (GRCm39)		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
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
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
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'- ACCCATGTTAGCCAGGTGTG -3'
(R):5'- TGACAGAGACCTTTTGCCCC -3'

Sequencing Primer
(F):5'- GCATGACCCCAGATGGC -3'
(R):5'- AGAGACCTTTTGCCCCATTACAATG -3'

Posted On

2019-09-13