Mutagenetix > Incidental Mutation

Incidental Mutation 'R4784:Golga2'

366789

Institutional Source

Beutler Lab

Gene Symbol

Golga2

Ensembl Gene

ENSMUSG00000002546

Gene Name

golgin A2

Synonyms

GM130

MMRRC Submission

041994-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.846) question?

Stock #

R4784 (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 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: 96.9%
20x: 94.3%

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1a	T	A	14: 66,875,273 (GRCm39)	S83T	probably damaging	Het
Aff1	T	A	5: 103,994,905 (GRCm39)	Y1034*	probably null	Het
Ago3	A	T	4: 126,262,296 (GRCm39)	M418K	probably benign	Het
Alpk1	G	T	3: 127,481,241 (GRCm39)	N175K	possibly damaging	Het
Als2	A	G	1: 59,254,472 (GRCm39)	V295A	probably benign	Het
Arhgap32	A	G	9: 32,040,949 (GRCm39)	D67G	probably damaging	Het
Arhgap32	T	C	9: 32,172,076 (GRCm39)	C1619R	probably damaging	Het
Asns	T	G	6: 7,678,029 (GRCm39)	K350Q	probably benign	Het
Atp8b5	A	T	4: 43,356,980 (GRCm39)	D576V	probably damaging	Het
Atrnl1	A	G	19: 57,617,590 (GRCm39)	I122V	probably damaging	Het
Baz1b	T	G	5: 135,246,267 (GRCm39)	L572R	possibly damaging	Het
C4b	T	C	17: 34,952,380 (GRCm39)	T1220A	probably benign	Het
Carmil3	T	C	14: 55,738,778 (GRCm39)		probably null	Het
Ccndbp1	A	T	2: 120,839,003 (GRCm39)	T5S	probably benign	Het
Chaf1b	T	C	16: 93,681,430 (GRCm39)	V16A	probably damaging	Het
Chd8	C	A	14: 52,442,825 (GRCm39)	C575F	probably damaging	Het
Chrna10	G	A	7: 101,762,426 (GRCm39)	P255S	possibly damaging	Het
Clip1	T	C	5: 123,717,356 (GRCm39)	D1387G	probably damaging	Het
Col12a1	C	A	9: 79,585,776 (GRCm39)	V1228F	possibly damaging	Het
Cxcr5	T	C	9: 44,424,638 (GRCm39)	T340A	probably benign	Het
Cyp2e1	G	A	7: 140,343,821 (GRCm39)	V20I	possibly damaging	Het
Dchs1	A	G	7: 105,415,133 (GRCm39)	Y684H	probably damaging	Het
Dcun1d3	T	C	7: 119,456,887 (GRCm39)	E275G	probably damaging	Het
Dgcr8	G	A	16: 18,076,174 (GRCm39)	R4*	probably null	Het
Dglucy	A	T	12: 100,804,923 (GRCm39)	D168V	probably damaging	Het
Dnah1	T	A	14: 30,985,436 (GRCm39)	K3818N	probably damaging	Het
Dnajc17	T	C	2: 119,009,909 (GRCm39)	D239G	probably benign	Het
Dok2	C	T	14: 71,015,314 (GRCm39)	P347L	probably benign	Het
Elavl2	T	C	4: 91,142,379 (GRCm39)	R265G	probably null	Het
Elf1	T	A	14: 79,818,183 (GRCm39)	N567K	probably benign	Het
Epha8	A	T	4: 136,660,633 (GRCm39)	I695N	probably damaging	Het
Fam178b	C	A	1: 36,671,496 (GRCm39)		probably null	Het
Fam76a	A	T	4: 132,629,428 (GRCm39)		probably null	Het
Fam76a	A	G	4: 132,643,501 (GRCm39)	Y78H	probably damaging	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
Fscn2	T	C	11: 120,258,813 (GRCm39)	F453L	possibly damaging	Het
Gabrb2	T	C	11: 42,488,469 (GRCm39)	C312R	probably damaging	Het
Gba2	A	C	4: 43,568,315 (GRCm39)	L684R	probably damaging	Het
Gpx6	C	T	13: 21,496,434 (GRCm39)	Q3*	probably null	Het
Grin1	T	A	2: 25,182,393 (GRCm39)	H956L	possibly damaging	Het
H2-Q7	T	G	17: 35,658,914 (GRCm39)	C122G	probably damaging	Het
Hcar2	C	G	5: 124,002,513 (GRCm39)	G330A	probably benign	Het
Hes3	A	G	4: 152,372,289 (GRCm39)	S37P	probably damaging	Het
Hs3st3b1	T	C	11: 63,780,086 (GRCm39)	H347R	probably benign	Het
Il1rl1	A	G	1: 40,489,348 (GRCm39)	R367G	probably damaging	Het
Kcnc1	G	T	7: 46,086,711 (GRCm39)	S570I	probably benign	Het
Kctd3	T	C	1: 188,706,665 (GRCm39)	I523M	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Kntc1	T	G	5: 123,954,825 (GRCm39)	M2081R	possibly damaging	Het
Krt87	A	G	15: 101,385,837 (GRCm39)	S253P	probably damaging	Het
Ktn1	T	A	14: 47,930,953 (GRCm39)		probably null	Het
Lair1	T	A	7: 4,012,731 (GRCm39)	M251L	probably benign	Het
Lama3	A	T	18: 12,582,601 (GRCm39)	H631L	probably benign	Het
Lamc1	T	C	1: 153,107,486 (GRCm39)	N1231S	probably damaging	Het
Lin54	A	G	5: 100,607,597 (GRCm39)	I250T	probably damaging	Het
Lrit1	C	T	14: 36,784,193 (GRCm39)	T507M	possibly damaging	Het
Lrp11	A	G	10: 7,479,965 (GRCm39)	H345R	possibly damaging	Het
Lrp6	A	C	6: 134,456,502 (GRCm39)	S921A	probably benign	Het
Lrrc27	A	G	7: 138,822,614 (GRCm39)	T502A	probably benign	Het
Marf1	A	C	16: 13,970,321 (GRCm39)	S133A	probably benign	Het
Mga	C	T	2: 119,733,538 (GRCm39)	P129S	probably damaging	Het
Mgat4e	T	C	1: 134,469,063 (GRCm39)	N327S	probably damaging	Het
Mlh1	A	G	9: 111,068,866 (GRCm39)	Y499H	probably benign	Het
Mrgpra1	A	G	7: 46,985,218 (GRCm39)	S154P	probably damaging	Het
Myo1h	A	G	5: 114,498,660 (GRCm39)	I919V	possibly damaging	Het
Naalad2	T	C	9: 18,262,214 (GRCm39)	R442G	probably damaging	Het
Nat8f4	T	C	6: 85,878,481 (GRCm39)	H14R	probably benign	Het
Nav1	A	G	1: 135,386,477 (GRCm39)	S1184P	probably damaging	Het
Nckap1	T	A	2: 80,337,278 (GRCm39)	N986I	probably benign	Het
Ndufaf2	C	G	13: 108,189,314 (GRCm39)	A145P	probably damaging	Het
Nop9	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	14: 55,983,859 (GRCm39)		probably benign	Het
Nphp4	G	A	4: 152,639,003 (GRCm39)	R878K	probably benign	Het
Nutm1	G	A	2: 112,079,281 (GRCm39)	A878V	probably benign	Het
Or4f56	A	T	2: 111,703,395 (GRCm39)	D268E	possibly damaging	Het
Or52e8b	A	C	7: 104,673,737 (GRCm39)	I150S	probably damaging	Het
Or5k1b	G	T	16: 58,580,911 (GRCm39)	F209L	probably damaging	Het
Orc6	T	A	8: 86,029,579 (GRCm39)	I41K	probably damaging	Het
Pikfyve	A	G	1: 65,307,005 (GRCm39)	T1798A	probably benign	Het
Ppp1r14a	A	T	7: 28,991,486 (GRCm39)	E98V	possibly damaging	Het
Prpf8	T	A	11: 75,383,331 (GRCm39)	D521E	probably damaging	Het
Pudp	A	G	18: 50,701,136 (GRCm39)	V199A	probably damaging	Het
Rab3c	T	C	13: 110,198,434 (GRCm39)	E198G	probably benign	Het
Ramac	T	A	7: 81,418,163 (GRCm39)	W73R	probably damaging	Het
Rbl2	A	G	8: 91,812,196 (GRCm39)	Y255C	probably damaging	Het
Rbm12	T	C	2: 155,938,484 (GRCm39)	D596G	possibly damaging	Het
Sipa1l3	A	G	7: 29,077,066 (GRCm39)	V902A	probably damaging	Het
Slc37a3	T	G	6: 39,314,157 (GRCm39)	Q485P	probably benign	Het
Slc44a3	T	C	3: 121,320,723 (GRCm39)	T93A	possibly damaging	Het
Slc66a1	G	T	4: 139,027,312 (GRCm39)	H343Q	probably benign	Het
Sun3	G	A	11: 8,988,266 (GRCm39)	L19F	probably benign	Het
Tas2r125	A	G	6: 132,886,866 (GRCm39)	I85V	probably benign	Het
Tenm4	A	C	7: 96,423,253 (GRCm39)	K683Q	probably damaging	Het
Tmprss11d	C	T	5: 86,454,140 (GRCm39)	V222M	probably damaging	Het
Tnip1	A	C	11: 54,806,365 (GRCm39)	S570A	possibly damaging	Het
Top1mt	G	A	15: 75,529,552 (GRCm39)	P554S	probably damaging	Het
Top1mt	A	G	15: 75,547,880 (GRCm39)	F69L	possibly damaging	Het
Ttc7	A	G	17: 87,648,325 (GRCm39)	K508R	probably benign	Het
Ttll4	A	T	1: 74,718,166 (GRCm39)	T6S	possibly damaging	Het
Xpo5	T	C	17: 46,533,643 (GRCm39)	Y500H	possibly damaging	Het
Xpot	C	T	10: 121,450,968 (GRCm39)		probably null	Het
Zbbx	T	C	3: 74,992,348 (GRCm39)	I268V	probably benign	Het
Zbtb40	G	A	4: 136,734,408 (GRCm39)	P360S	probably damaging	Het
Zfp324	T	C	7: 12,705,233 (GRCm39)	L474P	probably damaging	Het
Zfp398	A	G	6: 47,817,186 (GRCm39)	T9A	probably benign	Het
Zfp692	A	C	11: 58,200,997 (GRCm39)	S293R	probably null	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
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'- AGCCATGATGCTGGCAATTG -3'
(R):5'- AGCAGAATCTCCTTTCCTGC -3'

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

Posted On

2015-12-29