Mutagenetix > Incidental Mutation

Incidental Mutation 'R0049:Gorasp2'

16179

Institutional Source

Beutler Lab

Gene Symbol

Gorasp2

Ensembl Gene

ENSMUSG00000014959

Gene Name

golgi reassembly stacking protein 2

Synonyms

ENSMUSG00000075299, 9430094F20Rik, GOLPH2, GRASP55, 5730520M13Rik, GRS2, p59

MMRRC Submission

038343-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R0049 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

70491520-70522069 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70521067 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 346 (S346P)

Ref Sequence

ENSEMBL: ENSMUSP00000107820 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028509] [ENSMUST00000112201] [ENSMUST00000112205] [ENSMUST00000133432]

AlphaFold

Q99JX3

Predicted Effect

probably benign
Transcript: ENSMUST00000028509
AA Change: S366P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000028509
Gene: ENSMUSG00000014959
AA Change: S366P

Domain	Start	End	E-Value	Type
PDZ	5	75	8.14e-1	SMART
internal_repeat_1	107	196	4.52e-17	PROSPERO
low complexity region	236	252	N/A	INTRINSIC
low complexity region	307	329	N/A	INTRINSIC
low complexity region	333	358	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112201
AA Change: S346P

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000107820
Gene: ENSMUSG00000014959
AA Change: S346P

Domain	Start	End	E-Value	Type
Pfam:GRASP55_65	1	62	4.6e-11	PFAM
Pfam:GRASP55_65	49	185	1.9e-65	PFAM
low complexity region	216	232	N/A	INTRINSIC
low complexity region	287	309	N/A	INTRINSIC
low complexity region	313	338	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112205

SMART Domains

Protein: ENSMUSP00000107824
Gene: ENSMUSG00000014959

Domain	Start	End	E-Value	Type
PDZ	5	75	3.9e-3	SMART
internal_repeat_1	107	196	7.65e-17	PROSPERO
low complexity region	236	252	N/A	INTRINSIC
low complexity region	307	329	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000133432

SMART Domains

Protein: ENSMUSP00000121549
Gene: ENSMUSG00000014959

Domain	Start	End	E-Value	Type
PDZ	5	75	8.14e-1	SMART
internal_repeat_1	107	196	1.1e-15	PROSPERO
low complexity region	236	252	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136485

Meta Mutation Damage Score

0.0703

Coding Region Coverage

1x: 90.0%
3x: 87.7%
10x: 82.4%
20x: 74.6%

Validation Efficiency

89% (108/122)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Golgi reassembly stacking protein family. These proteins may play a role in the stacking of Golgi cisternae and Golgi ribbon formation, as well as Golgi fragmentation during apoptosis or mitosis. The encoded protein also plays a role in the intracellular transport of transforming growth factor alpha and may function as a molecular chaperone. A pseudogene of this gene is located on the short arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,615,267 (GRCm39)	H9L	possibly damaging	Het
Aars1	T	A	8: 111,779,083 (GRCm39)	I739K	possibly damaging	Het
Acod1	T	A	14: 103,292,643 (GRCm39)	I389K	possibly damaging	Het
Akap1	C	A	11: 88,730,450 (GRCm39)		probably null	Het
Anxa7	T	C	14: 20,512,678 (GRCm39)	D285G	probably damaging	Het
Arhgap1	T	C	2: 91,500,514 (GRCm39)	Y308H	probably damaging	Het
Arhgef11	T	A	3: 87,636,500 (GRCm39)		probably null	Het
Atosb	A	T	4: 43,036,441 (GRCm39)	S97T	probably benign	Het
Atp6v0a4	G	A	6: 38,059,016 (GRCm39)	R256C	probably damaging	Het
Camsap3	C	A	8: 3,648,772 (GRCm39)	S163R	probably benign	Het
Ccdc110	A	T	8: 46,395,663 (GRCm39)	E518V	probably damaging	Het
Ccdc180	G	A	4: 45,930,119 (GRCm39)		probably null	Het
Ccnt1	T	C	15: 98,462,960 (GRCm39)	M71V	probably benign	Het
Celsr2	T	A	3: 108,304,570 (GRCm39)	Y2263F	probably benign	Het
Cfap69	T	C	5: 5,663,734 (GRCm39)	T498A	probably benign	Het
Clstn3	T	A	6: 124,436,812 (GRCm39)	I132F	possibly damaging	Het
Cnot4	A	G	6: 35,028,212 (GRCm39)	V468A	probably benign	Het
Crmp1	T	G	5: 37,422,617 (GRCm39)	D141E	possibly damaging	Het
Cryz	C	A	3: 154,317,189 (GRCm39)	A136D	probably damaging	Het
Dcst2	T	C	3: 89,278,913 (GRCm39)	V550A	probably benign	Het
Dph6	A	G	2: 114,353,525 (GRCm39)	V221A	probably benign	Het
Ecm2	A	T	13: 49,677,922 (GRCm39)	K403*	probably null	Het
Eif3d	T	C	15: 77,843,924 (GRCm39)	N474S	probably benign	Het
F12	T	C	13: 55,574,130 (GRCm39)	D34G	probably benign	Het
Fam228b	A	T	12: 4,798,117 (GRCm39)	F200Y	probably damaging	Het
Fgl2	T	A	5: 21,580,661 (GRCm39)	D334E	possibly damaging	Het
Fras1	T	A	5: 96,924,481 (GRCm39)	F3641I	probably benign	Het
Gabrb2	T	G	11: 42,484,674 (GRCm39)	Y244D	probably damaging	Het
Gcc1	A	T	6: 28,421,268 (GRCm39)	D16E	probably benign	Het
Gm10648	T	C	7: 28,561,202 (GRCm39)		probably benign	Het
Htt	A	C	5: 35,066,006 (GRCm39)	K3060N	probably damaging	Het
Ibsp	C	T	5: 104,450,024 (GRCm39)	L8F	probably damaging	Het
Kif27	A	T	13: 58,451,378 (GRCm39)	D983E	probably damaging	Het
Kif3a	T	A	11: 53,481,560 (GRCm39)		probably benign	Het
Kif3c	A	C	12: 3,417,090 (GRCm39)	K370N	possibly damaging	Het
Loxhd1	T	C	18: 77,468,256 (GRCm39)		probably benign	Het
Maz	A	T	7: 126,623,758 (GRCm39)	D74E	probably damaging	Het
Med21	T	C	6: 146,551,732 (GRCm39)	S128P	probably damaging	Het
Mms19	A	C	19: 41,943,607 (GRCm39)	M374R	probably damaging	Het
Mrpl3	T	C	9: 104,932,872 (GRCm39)	V111A	probably benign	Het
Mtfr2	T	A	10: 20,224,158 (GRCm39)	Y31N	probably damaging	Het
Neb	A	C	2: 52,060,479 (GRCm39)	M2286R	possibly damaging	Het
Ngf	A	T	3: 102,427,661 (GRCm39)	R137*	probably null	Het
Nr1i3	T	A	1: 171,041,982 (GRCm39)	V22E	probably damaging	Het
Nxpe5	T	C	5: 138,249,566 (GRCm39)	V452A	probably damaging	Het
Or11g27	A	T	14: 50,771,151 (GRCm39)	K94M	probably damaging	Het
Pax3	A	G	1: 78,080,141 (GRCm39)	L415P	probably damaging	Het
Pcnt	G	T	10: 76,205,655 (GRCm39)		probably benign	Het
Peg3	G	T	7: 6,714,672 (GRCm39)	D183E	possibly damaging	Het
Pglyrp1	G	T	7: 18,623,313 (GRCm39)	G120V	probably damaging	Het
Pomt1	T	A	2: 32,142,023 (GRCm39)	H584Q	possibly damaging	Het
Prkcq	G	A	2: 11,288,643 (GRCm39)	G532E	probably benign	Het
Pwp1	A	G	10: 85,721,480 (GRCm39)	T361A	possibly damaging	Het
Rab4a	A	T	8: 124,554,081 (GRCm39)	H5L	probably damaging	Het
Ramp1	T	C	1: 91,124,592 (GRCm39)	I51T	possibly damaging	Het
Raph1	G	T	1: 60,565,058 (GRCm39)	T143K	probably benign	Het
Rhpn1	A	G	15: 75,581,088 (GRCm39)	E110G	possibly damaging	Het
Rnf168	A	T	16: 32,117,287 (GRCm39)	T283S	possibly damaging	Het
Ros1	T	A	10: 51,977,857 (GRCm39)	Y1463F	possibly damaging	Het
Rtn4ip1	A	G	10: 43,797,430 (GRCm39)	Q223R	probably null	Het
Rtp4	G	T	16: 23,431,679 (GRCm39)	M70I	probably benign	Het
Sag	C	A	1: 87,762,340 (GRCm39)	T335K	probably damaging	Het
Sgo1	C	T	17: 53,986,691 (GRCm39)	D167N	probably damaging	Het
Slco1a8	T	C	6: 141,936,147 (GRCm39)	T313A	probably benign	Het
St6gal1	G	T	16: 23,139,891 (GRCm39)	A21S	probably damaging	Het
Stard9	C	A	2: 120,530,300 (GRCm39)	L2186I	probably damaging	Het
Sun2	T	A	15: 79,611,810 (GRCm39)		probably benign	Het
Taf4	G	A	2: 179,565,884 (GRCm39)	T849M	probably damaging	Het
Taok2	G	A	7: 126,465,583 (GRCm39)	H404Y	possibly damaging	Het
Tdrd7	A	G	4: 45,987,582 (GRCm39)	I72V	probably damaging	Het
Trav1	T	A	14: 52,666,155 (GRCm39)	S52T	probably damaging	Het
Trim30a	C	T	7: 104,078,559 (GRCm39)		probably null	Het
Tro	T	C	X: 149,437,565 (GRCm39)	N364S	possibly damaging	Het
Tshz3	A	G	7: 36,469,534 (GRCm39)	T508A	probably damaging	Het
Ttc21b	A	G	2: 66,053,908 (GRCm39)	L757P	probably damaging	Het
Vmn1r218	C	T	13: 23,321,225 (GRCm39)	Q111*	probably null	Het
Vmn2r75	G	A	7: 85,797,309 (GRCm39)	Q835*	probably null	Het
Xcr1	T	A	9: 123,684,940 (GRCm39)	D274V	possibly damaging	Het
Ypel5	C	T	17: 73,153,332 (GRCm39)	T12I	probably benign	Het

Other mutations in Gorasp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00928:Gorasp2	APN	2	70,521,208 (GRCm39)	missense	probably benign
IGL01108:Gorasp2	APN	2	70,508,922 (GRCm39)	missense	probably damaging	1.00
IGL01611:Gorasp2	APN	2	70,519,604 (GRCm39)	missense	possibly damaging	0.87
IGL02472:Gorasp2	APN	2	70,506,803 (GRCm39)	splice site	probably benign
IGL02794:Gorasp2	APN	2	70,509,838 (GRCm39)	nonsense	probably null
IGL03132:Gorasp2	APN	2	70,514,379 (GRCm39)	missense	probably benign	0.24
IGL03369:Gorasp2	APN	2	70,513,336 (GRCm39)	missense	probably damaging	1.00
R0049:Gorasp2	UTSW	2	70,521,067 (GRCm39)	missense	possibly damaging	0.83
R0846:Gorasp2	UTSW	2	70,521,298 (GRCm39)	missense	probably benign	0.01
R1112:Gorasp2	UTSW	2	70,521,158 (GRCm39)	missense	probably benign	0.00
R1168:Gorasp2	UTSW	2	70,518,744 (GRCm39)	missense	probably damaging	1.00
R1862:Gorasp2	UTSW	2	70,509,808 (GRCm39)	missense	probably damaging	1.00
R4062:Gorasp2	UTSW	2	70,509,857 (GRCm39)	missense	probably damaging	1.00
R4636:Gorasp2	UTSW	2	70,509,836 (GRCm39)	missense	probably damaging	1.00
R4911:Gorasp2	UTSW	2	70,518,683 (GRCm39)	intron	probably benign
R5215:Gorasp2	UTSW	2	70,519,598 (GRCm39)	missense	probably benign	0.04
R5473:Gorasp2	UTSW	2	70,508,950 (GRCm39)	missense	probably damaging	0.97
R6005:Gorasp2	UTSW	2	70,521,095 (GRCm39)	missense	probably benign	0.01
R6220:Gorasp2	UTSW	2	70,521,134 (GRCm39)	missense	probably damaging	1.00
R6358:Gorasp2	UTSW	2	70,503,104 (GRCm39)	start codon destroyed	probably null	0.00
R7225:Gorasp2	UTSW	2	70,514,391 (GRCm39)	missense	probably damaging	0.98
R7278:Gorasp2	UTSW	2	70,509,849 (GRCm39)	missense	probably damaging	0.96
R7895:Gorasp2	UTSW	2	70,514,442 (GRCm39)	missense	probably benign	0.00
R9421:Gorasp2	UTSW	2	70,509,867 (GRCm39)	missense	probably damaging	1.00
R9440:Gorasp2	UTSW	2	70,541,469 (GRCm39)	critical splice donor site	probably null

Posted On

2013-01-08