Mutagenetix > Incidental Mutation

Incidental Mutation 'R5473:Gorasp2'

433907

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

043034-MU

Accession Numbers

Essential gene?

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

Stock #

R5473 (G1)

Quality Score

224

Status

Validated

Chromosome

Chromosomal Location

70491520-70522069 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 70508950 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 123 (M123L)

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: M143L

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000028509
Gene: ENSMUSG00000014959
AA Change: M143L

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

probably damaging
Transcript: ENSMUST00000112201
AA Change: M123L

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107820
Gene: ENSMUSG00000014959
AA Change: M123L

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
AA Change: M143L

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000107824
Gene: ENSMUSG00000014959
AA Change: M143L

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

noncoding transcript
Transcript: ENSMUST00000130970

Predicted Effect

probably benign
Transcript: ENSMUST00000133432
AA Change: M143L

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000121549
Gene: ENSMUSG00000014959
AA Change: M143L

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

Meta Mutation Damage Score

0.0974

Coding Region Coverage

1x: 98.2%
3x: 97.3%
10x: 95.2%
20x: 90.6%

Validation Efficiency

100% (66/66)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	T	C	7: 119,312,173 (GRCm39)	Y549H	probably damaging	Het
Adamtsl4	G	T	3: 95,587,303 (GRCm39)	Q758K	probably damaging	Het
Anapc1	G	T	2: 128,449,115 (GRCm39)		probably benign	Het
Ankrd26	A	T	6: 118,492,797 (GRCm39)	C1316S	probably benign	Het
Birc5	T	C	11: 117,743,533 (GRCm39)	V89A	possibly damaging	Het
Camk2d	G	T	3: 126,391,048 (GRCm39)		probably benign	Het
Ccdc47	A	T	11: 106,095,855 (GRCm39)	S280R	probably damaging	Het
Cntnap5a	T	A	1: 116,016,986 (GRCm39)	F193Y	probably benign	Het
Cntrob	G	T	11: 69,213,579 (GRCm39)	D70E	possibly damaging	Het
Col24a1	A	C	3: 145,243,016 (GRCm39)	M1519L	probably benign	Het
Col2a1	G	T	15: 97,885,370 (GRCm39)	A491D	unknown	Het
Crat	A	G	2: 30,297,726 (GRCm39)	L266P	probably damaging	Het
Dlgap1	A	T	17: 70,824,025 (GRCm39)		probably benign	Het
Dnaaf10	T	C	11: 17,174,591 (GRCm39)	V153A	probably damaging	Het
Eya4	T	A	10: 23,039,351 (GRCm39)	H104L	probably benign	Het
Fam83b	T	C	9: 76,398,782 (GRCm39)	K774E	probably damaging	Het
Fgd6	T	C	10: 93,880,538 (GRCm39)	I464T	probably benign	Het
H2-M10.3	A	T	17: 36,678,261 (GRCm39)	V188E	probably damaging	Het
Hnrnpk	A	T	13: 58,541,913 (GRCm39)	W333R	probably damaging	Het
Hrh4	T	C	18: 13,154,985 (GRCm39)	Y175H	probably benign	Het
Igf2r	G	T	17: 12,914,201 (GRCm39)	T1756K	probably benign	Het
Kcnq5	A	G	1: 21,527,626 (GRCm39)		probably null	Het
Kiz	G	T	2: 146,811,915 (GRCm39)	E675*	probably null	Het
Mcm3ap	T	G	10: 76,338,593 (GRCm39)	L1407R	probably damaging	Het
Mdc1	A	G	17: 36,158,952 (GRCm39)	D444G	probably benign	Het
Myl3	C	A	9: 110,597,026 (GRCm39)	H129N	probably damaging	Het
Neo1	T	C	9: 58,788,126 (GRCm39)	N1309S	possibly damaging	Het
Nrxn1	A	T	17: 90,897,520 (GRCm39)	Y269N	probably damaging	Het
Nsd1	A	G	13: 55,395,585 (GRCm39)	N1165S	probably damaging	Het
Nuf2	T	C	1: 169,334,856 (GRCm39)	D302G	probably benign	Het
Olfr908	A	G	9: 38,427,508 (GRCm39)	Y60C	probably damaging	Het
Or10j3	G	C	1: 173,031,732 (GRCm39)	G270R	probably benign	Het
Or14j1	T	C	17: 38,146,630 (GRCm39)	F247L	probably benign	Het
Or5d38	A	T	2: 87,954,981 (GRCm39)	M116K	possibly damaging	Het
Oxsm	A	T	14: 16,242,045 (GRCm38)	S241R	probably damaging	Het
Pde1a	G	T	2: 79,736,372 (GRCm39)	S87R	probably damaging	Het
Plagl2	A	T	2: 153,074,114 (GRCm39)	C262*	probably null	Het
Plcg2	A	G	8: 118,361,140 (GRCm39)	K1233R	probably benign	Het
Pon3	A	T	6: 5,256,177 (GRCm39)	I17K	possibly damaging	Het
Ppfia1	A	T	7: 144,045,229 (GRCm39)	M951K	probably benign	Het
Pramel12	A	G	4: 143,145,874 (GRCm39)	R448G	probably damaging	Het
Prpf31	A	G	7: 3,642,824 (GRCm39)	K438E	probably benign	Het
Pum3	C	A	19: 27,396,248 (GRCm39)	V328F	probably damaging	Het
Ralgapa1	T	C	12: 55,723,495 (GRCm39)	E1677G	probably benign	Het
Rpf2	A	G	10: 40,103,627 (GRCm39)	V96A	possibly damaging	Het
Rsrc2	C	T	5: 123,869,150 (GRCm39)	A98T	probably damaging	Het
Saraf	G	A	8: 34,628,412 (GRCm39)	R86Q	probably damaging	Het
Scara5	T	A	14: 65,977,788 (GRCm39)	D349E	possibly damaging	Het
Slc30a1	T	C	1: 191,641,734 (GRCm39)	V460A	possibly damaging	Het
Tdrd7	G	T	4: 46,020,877 (GRCm39)	V768L	possibly damaging	Het
Tshz2	T	C	2: 169,725,718 (GRCm39)	S105P	probably benign	Het
Ufsp2	A	G	8: 46,445,258 (GRCm39)	I362M	probably damaging	Het
Ugt1a7c	T	A	1: 88,023,159 (GRCm39)	I106K	probably benign	Het
Zdhhc5	A	G	2: 84,520,810 (GRCm39)	Y456H	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- GGTTCTTCAGACGCTATAGCTCC -3'
(R):5'- GGTGCATGATGGACAAGTGC -3'

Sequencing Primer
(F):5'- CGAGCTGTCACTCTTAACGCG -3'
(R):5'- GTGCAAGGATCCCATGGTTTCC -3'

Posted On

2016-10-06