Mutagenetix > Incidental Mutation

Incidental Mutation 'R1716:Golga2'

190985

Institutional Source

Beutler Lab

Gene Symbol

Golga2

Ensembl Gene

ENSMUSG00000002546

Gene Name

golgin A2

Synonyms

GM130

MMRRC Submission

039749-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.875) question?

Stock #

R1716 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32178299-32197925 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32192909 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 409 (L409Q)

Ref Sequence

ENSEMBL: ENSMUSP00000097768 (fasta)

Gene Model

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

AlphaFold

Q921M4

Predicted Effect

probably damaging
Transcript: ENSMUST00000081670
AA Change: L339Q

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000080374
Gene: ENSMUSG00000002546
AA Change: L339Q

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: L409Q

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

SMART Domains

Protein: ENSMUSP00000097768
Gene: ENSMUSG00000002546
AA Change: L409Q

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: L382Q

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109004
Gene: ENSMUSG00000002546
AA Change: L382Q

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

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 damaging
Transcript: ENSMUST00000131712
AA Change: L316Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000114169
Gene: ENSMUSG00000002546
AA Change: L316Q

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

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

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	A	G	7: 78,731,946 (GRCm39)	T2A	unknown	Het
Adgrf3	T	A	5: 30,402,549 (GRCm39)	Q493L	probably benign	Het
Ak6	T	C	13: 100,792,177 (GRCm39)	S207P	probably benign	Het
Ang	A	G	14: 51,338,937 (GRCm39)	D26G	probably benign	Het
Ang	T	C	14: 51,338,957 (GRCm39)	F33L	probably damaging	Het
Arhgef38	T	A	3: 132,846,598 (GRCm39)	Y389F	probably benign	Het
Arhgef7	C	A	8: 11,858,713 (GRCm39)		probably null	Het
Bicd2	C	A	13: 49,531,786 (GRCm39)	H343N	probably benign	Het
Casp4	G	A	9: 5,308,919 (GRCm39)		probably null	Het
Cd22	A	G	7: 30,577,103 (GRCm39)	F68S	probably damaging	Het
Cd46	T	A	1: 194,760,117 (GRCm39)	Q245L	probably benign	Het
Cntnap2	A	T	6: 47,084,826 (GRCm39)	R1096*	probably null	Het
Cntnap3	A	G	13: 64,909,816 (GRCm39)	V763A	probably damaging	Het
Cyp3a11	T	C	5: 145,805,776 (GRCm39)	T171A	probably benign	Het
Defa30	A	G	8: 21,625,431 (GRCm39)	Y65C	probably damaging	Het
Defb18	A	T	1: 18,306,875 (GRCm39)	M27K	probably benign	Het
Dnah17	A	G	11: 117,923,424 (GRCm39)	S4071P	probably benign	Het
Dnah7b	T	A	1: 46,230,943 (GRCm39)	D1400E	probably damaging	Het
Dpysl5	C	T	5: 30,935,338 (GRCm39)	T147I	probably benign	Het
Dsg4	C	T	18: 20,595,518 (GRCm39)	R574*	probably null	Het
Entrep2	A	T	7: 64,426,633 (GRCm39)		probably null	Het
Epm2a	A	G	10: 11,324,580 (GRCm39)	E223G	probably benign	Het
Etl4	T	C	2: 20,748,492 (GRCm39)	S75P	probably damaging	Het
Fbxw15	T	A	9: 109,386,204 (GRCm39)	M312L	probably benign	Het
Fcgr4	C	T	1: 170,847,672 (GRCm39)	T90I	probably damaging	Het
Fras1	T	A	5: 96,700,584 (GRCm39)	D201E	probably benign	Het
Gadl1	A	T	9: 115,835,576 (GRCm39)	K335*	probably null	Het
Gcsam	T	G	16: 45,440,356 (GRCm39)	V133G	probably damaging	Het
Gml	G	T	15: 74,685,665 (GRCm39)	L107I	possibly damaging	Het
Gtf2a1l	A	T	17: 89,002,008 (GRCm39)	Q241L	probably benign	Het
Gtf3c3	A	G	1: 54,438,419 (GRCm39)	Y799H	probably damaging	Het
Guca1b	T	G	17: 47,702,126 (GRCm39)		probably benign	Het
Igdcc4	C	A	9: 65,034,179 (GRCm39)	H617Q	probably damaging	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Itga2b	A	C	11: 102,351,603 (GRCm39)	I574S	probably benign	Het
Kcnk7	A	T	19: 5,756,859 (GRCm39)	I283F	probably damaging	Het
Kirrel3	T	A	9: 34,934,843 (GRCm39)	L450M	probably damaging	Het
Lmntd1	A	T	6: 145,365,600 (GRCm39)	S176R	probably damaging	Het
Lrrc39	C	T	3: 116,373,216 (GRCm39)	T292I	probably benign	Het
Ltbp1	A	T	17: 75,622,019 (GRCm39)	H801L	probably benign	Het
Macf1	T	A	4: 123,295,196 (GRCm39)	Q3318L	probably damaging	Het
Man1b1	T	A	2: 25,235,032 (GRCm39)	N282K	probably benign	Het
Map2k6	A	T	11: 110,388,727 (GRCm39)	E223V	probably damaging	Het
Marf1	C	A	16: 13,960,450 (GRCm39)	R531S	possibly damaging	Het
Mfge8	G	A	7: 78,792,191 (GRCm39)	R245C	probably damaging	Het
Mogat1	T	G	1: 78,514,681 (GRCm39)	N318K	probably benign	Het
Myh4	T	A	11: 67,141,135 (GRCm39)	S732R	possibly damaging	Het
Myt1l	T	A	12: 29,861,537 (GRCm39)	D106E	unknown	Het
Ndc1	T	C	4: 107,241,992 (GRCm39)	F302L	probably damaging	Het
Ndrg4	C	T	8: 96,438,956 (GRCm39)	A290V	probably benign	Het
Nfia	A	T	4: 97,951,365 (GRCm39)	K397N	probably damaging	Het
Nlrp4e	A	T	7: 23,020,458 (GRCm39)	Q315L	possibly damaging	Het
Oga	C	A	19: 45,740,613 (GRCm39)	K907N	probably benign	Het
Or10p22	A	C	10: 128,826,721 (GRCm39)	*313C	probably null	Het
Or1ad8	T	A	11: 50,898,679 (GRCm39)	N293K	probably damaging	Het
Peg3	T	C	7: 6,710,780 (GRCm39)	I1481V	possibly damaging	Het
Phldb2	C	T	16: 45,595,413 (GRCm39)	G883D	probably benign	Het
Pik3c2b	T	A	1: 133,022,564 (GRCm39)	Y1169N	probably damaging	Het
Plcl1	A	T	1: 55,734,997 (GRCm39)	I113F	probably damaging	Het
Pomt2	T	C	12: 87,171,610 (GRCm39)	I457V	probably benign	Het
Ppil1	T	C	17: 29,480,809 (GRCm39)	N38S	possibly damaging	Het
Prf1	A	G	10: 61,136,231 (GRCm39)	N169S	probably benign	Het
Prmt8	A	C	6: 127,703,486 (GRCm39)		probably null	Het
Ptprg	T	A	14: 12,154,360 (GRCm38)	S694T	probably benign	Het
Rab12	A	T	17: 66,807,315 (GRCm39)	M138K	possibly damaging	Het
Reln	T	C	5: 22,160,093 (GRCm39)	T2159A	probably damaging	Het
Retsat	A	T	6: 72,583,063 (GRCm39)	Y36F	probably damaging	Het
Rgs14	A	T	13: 55,526,696 (GRCm39)	Q116L	probably damaging	Het
Rlbp1	A	T	7: 79,025,684 (GRCm39)	N252K	probably damaging	Het
Rtraf	A	G	14: 19,862,242 (GRCm39)	L215P	probably damaging	Het
Sec1	A	T	7: 45,328,789 (GRCm39)	M86K	probably benign	Het
Sec24b	A	T	3: 129,834,665 (GRCm39)	S42T	possibly damaging	Het
Serpinb9d	T	C	13: 33,380,500 (GRCm39)	S129P	probably damaging	Het
Slc35f5	T	G	1: 125,512,269 (GRCm39)	D356E	possibly damaging	Het
Smpd4	T	C	16: 17,460,365 (GRCm39)	S694P	probably damaging	Het
Spag6	G	T	2: 18,750,420 (GRCm39)		probably null	Het
Spata31d1c	T	C	13: 65,181,030 (GRCm39)	I43T	possibly damaging	Het
Ssh1	T	C	5: 114,090,081 (GRCm39)	D314G	possibly damaging	Het
Tnfrsf17	G	A	16: 11,137,595 (GRCm39)	D111N	probably benign	Het
Ttn	A	G	2: 76,553,635 (GRCm39)	I30994T	probably damaging	Het
Ttn	A	T	2: 76,614,320 (GRCm39)	F8737L	probably damaging	Het
Ush1c	G	T	7: 45,845,152 (GRCm39)	F890L	probably benign	Het
Usp36	C	T	11: 118,162,957 (GRCm39)		probably null	Het
Vmn2r115	T	C	17: 23,566,795 (GRCm39)	Y436H	probably benign	Het
Vmn2r94	T	A	17: 18,477,635 (GRCm39)	M259L	probably benign	Het
Wwp1	T	C	4: 19,659,698 (GRCm39)	T197A	probably benign	Het
Zbtb37	T	A	1: 160,847,814 (GRCm39)	M398L	probably benign	Het
Zfp804b	C	T	5: 6,819,673 (GRCm39)	C1130Y	probably benign	Het
Zfp9	A	G	6: 118,441,712 (GRCm39)	C317R	probably damaging	Het
Zscan20	T	C	4: 128,480,334 (GRCm39)	H719R	probably 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
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'- AGGTTGTCATCCTAGCTCGCACTC -3'
(R):5'- ACCACGCTGATGCTCAGGAAAAG -3'

Sequencing Primer
(F):5'- CACTCTTGTGGGGAGCACTG -3'
(R):5'- CTGATGCTCAGGAAAAGCAAAGAC -3'

Posted On

2014-05-14