Mutagenetix > Incidental Mutation

Incidental Mutation 'R7225:Gorasp2'

562076

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

045297-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R7225 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70491520-70522069 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70514391 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 256 (L256Q)

Ref Sequence

ENSEMBL: ENSMUSP00000028509 (fasta)

Gene Model

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

AlphaFold

Q99JX3

Predicted Effect

probably damaging
Transcript: ENSMUST00000028509
AA Change: L256Q

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028509
Gene: ENSMUSG00000014959
AA Change: L256Q

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: L236Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000107820
Gene: ENSMUSG00000014959
AA Change: L236Q

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: L256Q

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000107824
Gene: ENSMUSG00000014959
AA Change: L256Q

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
AA Change: L256Q

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000121549
Gene: ENSMUSG00000014959
AA Change: L256Q

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

0.4426

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (62/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	T	C	12: 110,637,299 (GRCm39)		probably benign	Het
5730480H06Rik	T	A	5: 48,537,575 (GRCm39)		probably null	Het
Actn4	A	T	7: 28,598,124 (GRCm39)	V492D	probably damaging	Het
Alpk2	T	C	18: 65,438,270 (GRCm39)	E1041G	probably benign	Het
Asap1	G	A	15: 64,002,099 (GRCm39)	T404M	probably damaging	Het
Cd22	C	T	7: 30,577,059 (GRCm39)	A83T	not run	Het
Cdan1	T	C	2: 120,555,393 (GRCm39)	T783A	probably benign	Het
Cdh9	C	T	15: 16,856,159 (GRCm39)	S733F	probably damaging	Het
Cfap54	A	G	10: 92,740,236 (GRCm39)	F2282S	unknown	Het
Chst9	T	C	18: 15,585,718 (GRCm39)	K282E	probably damaging	Het
Clcn1	G	A	6: 42,270,396 (GRCm39)	D232N	probably damaging	Het
Clpb	T	A	7: 101,360,672 (GRCm39)	L234Q	probably damaging	Het
Cluh	T	G	11: 74,557,232 (GRCm39)		probably null	Het
Cnp	C	T	11: 100,471,413 (GRCm39)	Q352*	probably null	Het
Cyfip1	AGTGT	AGT	7: 55,577,937 (GRCm39)		probably null	Het
Dtx3	C	T	10: 127,027,358 (GRCm39)	C272Y	probably damaging	Het
Dync2h1	A	G	9: 7,142,756 (GRCm39)	I1156T	probably benign	Het
Epg5	T	A	18: 78,055,917 (GRCm39)	V1697E	probably benign	Het
Exoc3l4	A	G	12: 111,390,058 (GRCm39)	D211G	probably benign	Het
Fank1	A	G	7: 133,454,988 (GRCm39)	K36R	probably benign	Het
Fat4	T	C	3: 39,034,325 (GRCm39)	I2659T	possibly damaging	Het
Fer1l5	T	C	1: 36,460,033 (GRCm39)	W1893R	possibly damaging	Het
Gpc5	T	G	14: 115,789,710 (GRCm39)	V528G	probably damaging	Het
Gria2	T	A	3: 80,709,938 (GRCm39)		probably benign	Het
Htatip2	A	G	7: 49,420,604 (GRCm39)	E150G	possibly damaging	Het
Jak3	C	A	8: 72,138,155 (GRCm39)	Q869K	probably benign	Het
Jmjd1c	T	C	10: 67,061,844 (GRCm39)	V1218A	probably benign	Het
Kcnf1	A	G	12: 17,225,694 (GRCm39)	C176R	possibly damaging	Het
Kcnq4	A	G	4: 120,604,111 (GRCm39)	V88A	probably benign	Het
Lmod3	T	A	6: 97,224,345 (GRCm39)	D492V	probably benign	Het
Lurap1l	A	C	4: 80,829,718 (GRCm39)	S43R	probably benign	Het
Mamdc4	T	C	2: 25,455,558 (GRCm39)	H890R	possibly damaging	Het
Mertk	T	G	2: 128,643,482 (GRCm39)	N960K	possibly damaging	Het
Nudt9	C	A	5: 104,212,966 (GRCm39)	D346E	probably benign	Het
Obi1	T	C	14: 104,717,294 (GRCm39)	T360A	probably benign	Het
Opa1	A	G	16: 29,432,857 (GRCm39)		probably null	Het
Or5an1	A	T	19: 12,260,831 (GRCm39)	T140S	probably benign	Het
Oxr1	C	T	15: 41,677,004 (GRCm39)	P187L	not run	Het
Paxbp1	T	C	16: 90,823,956 (GRCm39)	E564G	probably damaging	Het
Pcdhb13	C	T	18: 37,577,490 (GRCm39)	R623C	possibly damaging	Het
Pkhd1l1	G	T	15: 44,410,337 (GRCm39)	V2615F	probably damaging	Het
Plin3	T	C	17: 56,593,541 (GRCm39)	T58A	possibly damaging	Het
Por	A	G	5: 135,761,441 (GRCm39)	D309G	probably benign	Het
Ppp2r5e	T	C	12: 75,515,353 (GRCm39)	K261R	probably damaging	Het
Ptpn18	C	T	1: 34,511,927 (GRCm39)	T366I	possibly damaging	Het
Ptprz1	G	A	6: 23,000,928 (GRCm39)	G1006E	possibly damaging	Het
Rpl12	C	T	2: 32,851,909 (GRCm39)		probably benign	Het
Rpsa	T	G	9: 119,960,222 (GRCm39)	F262V	probably benign	Het
Sh3pxd2a	G	T	19: 47,255,828 (GRCm39)	N991K	probably damaging	Het
Shank2	T	A	7: 143,838,762 (GRCm39)	N19K	probably benign	Het
Sik1	T	C	17: 32,073,274 (GRCm39)	T61A	probably benign	Het
Sipa1l3	A	C	7: 29,098,853 (GRCm39)	V472G	probably damaging	Het
Sirt6	A	G	10: 81,458,315 (GRCm39)	S313P	probably benign	Het
Slc12a7	A	G	13: 73,912,081 (GRCm39)		probably benign	Het
Sox13	A	T	1: 133,314,862 (GRCm39)	V266E	probably benign	Het
Spag9	T	C	11: 93,988,184 (GRCm39)	C833R	probably damaging	Het
Tcof1	T	C	18: 60,961,520 (GRCm39)	T812A	unknown	Het
Tnfsf4	A	G	1: 161,244,821 (GRCm39)	D170G	possibly damaging	Het
Tshz3	A	G	7: 36,469,082 (GRCm39)	N357S	probably damaging	Het
Txk	C	T	5: 72,858,057 (GRCm39)	D418N	probably damaging	Het
Ube2j2	A	G	4: 156,033,773 (GRCm39)		probably null	Het
Vmn2r84	G	A	10: 130,222,552 (GRCm39)	P556L	probably damaging	Het
Zfp1007	T	C	5: 109,825,015 (GRCm39)	H145R	possibly damaging	Het
Zfp442	T	C	2: 150,250,925 (GRCm39)	N326D	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
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
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'- CATTTGAGGAGGTCAGAGCC -3'
(R):5'- TGGCAGACTATGGAAGCCAG -3'

Sequencing Primer
(F):5'- AGGTCAGAGCCTTGAGATTGG -3'
(R):5'- TGGGGCAATGAAGTTAGTTGTATAAC -3'

Posted On

2019-06-26