Mutagenetix > Incidental Mutations

Incidental Mutation 'R7072:Gcc2'

548974

Institutional Source

Beutler Lab

Gene Symbol

Gcc2

Ensembl Gene

ENSMUSG00000038039

Gene Name

GRIP and coiled-coil domain containing 2

Synonyms

2600014C01Rik, 0610043A03Rik, 2210420P05Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.386) question?

Stock #

R7072 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58255497-58305599 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58270927 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 662 (T662A)

Ref Sequence

ENSEMBL: ENSMUSP00000054033 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057659] [ENSMUST00000160416] [ENSMUST00000160427] [ENSMUST00000162041] [ENSMUST00000162860] [ENSMUST00000162984]

Predicted Effect

probably benign
Transcript: ENSMUST00000057659
AA Change: T662A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000054033
Gene: ENSMUSG00000038039
AA Change: T662A

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
coiled coil region	33	282	N/A	INTRINSIC
internal_repeat_2	353	378	3.94e-5	PROSPERO
internal_repeat_2	382	406	3.94e-5	PROSPERO
coiled coil region	790	882	N/A	INTRINSIC
low complexity region	939	964	N/A	INTRINSIC
internal_repeat_1	1093	1111	1.93e-5	PROSPERO
low complexity region	1115	1132	N/A	INTRINSIC
low complexity region	1179	1190	N/A	INTRINSIC
coiled coil region	1441	1470	N/A	INTRINSIC
internal_repeat_1	1554	1572	1.93e-5	PROSPERO
Grip	1608	1655	4.37e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000160416

SMART Domains

Protein: ENSMUSP00000123873
Gene: ENSMUSG00000038039

Domain	Start	End	E-Value	Type
coiled coil region	37	176	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160427

SMART Domains

Protein: ENSMUSP00000124411
Gene: ENSMUSG00000038039

Domain	Start	End	E-Value	Type
coiled coil region	32	94	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162041
AA Change: T626A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000124787
Gene: ENSMUSG00000038039
AA Change: T626A

Domain	Start	End	E-Value	Type
coiled coil region	32	246	N/A	INTRINSIC
internal_repeat_2	317	342	3.28e-5	PROSPERO
internal_repeat_2	346	370	3.28e-5	PROSPERO
coiled coil region	754	846	N/A	INTRINSIC
low complexity region	903	928	N/A	INTRINSIC
internal_repeat_1	1057	1075	1.6e-5	PROSPERO
low complexity region	1079	1096	N/A	INTRINSIC
low complexity region	1143	1154	N/A	INTRINSIC
coiled coil region	1405	1434	N/A	INTRINSIC
internal_repeat_1	1518	1536	1.6e-5	PROSPERO
Grip	1572	1619	4.37e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162860
AA Change: T562A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000124152
Gene: ENSMUSG00000038039
AA Change: T562A

Domain	Start	End	E-Value	Type
coiled coil region	46	182	N/A	INTRINSIC
internal_repeat_2	253	278	4.17e-5	PROSPERO
internal_repeat_2	282	306	4.17e-5	PROSPERO
coiled coil region	690	782	N/A	INTRINSIC
low complexity region	839	864	N/A	INTRINSIC
internal_repeat_1	993	1011	2.06e-5	PROSPERO
low complexity region	1015	1032	N/A	INTRINSIC
low complexity region	1079	1090	N/A	INTRINSIC
coiled coil region	1341	1370	N/A	INTRINSIC
internal_repeat_1	1450	1468	2.06e-5	PROSPERO
Grip	1504	1551	4.37e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162984

SMART Domains

Protein: ENSMUSP00000124988
Gene: ENSMUSG00000038039

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (73/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a peripheral membrane protein localized to the trans-Golgi network. It is sensitive to brefeldin A. This encoded protein contains a GRIP domain which is thought to be used in targeting. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 122,173,943	L2214Q	probably damaging	Het
Acbd3	T	C	1: 180,726,369	F90L	probably benign	Het
Ahnak2	T	A	12: 112,788,166	Q23L		Het
Anpep	A	T	7: 79,835,379	L620I	possibly damaging	Het
Bpi	T	C	2: 158,272,078	S299P	probably damaging	Het
Bpifa2	A	G	2: 154,011,373	D132G	probably damaging	Het
Brd7	T	A	8: 88,346,987	E258D	probably benign	Het
Btc	T	C	5: 91,402,937		probably benign	Het
Cacna1c	A	G	6: 118,596,106	V2039A		Het
Calm4	T	A	13: 3,838,275	V127E	probably benign	Het
Casp8ap2	T	A	4: 32,644,766	S1280T	probably damaging	Het
Cc2d2b	T	C	19: 40,760,359	V80A	unknown	Het
Ccdc33	A	G	9: 58,111,984	*279R	probably null	Het
Cercam	T	A	2: 29,881,924	H585Q	probably benign	Het
Cnnm1	A	G	19: 43,440,857	D138G	probably benign	Het
Cox4i2	T	C	2: 152,760,653	F89S	probably damaging	Het
Crb1	G	A	1: 139,237,275	T1098I	probably damaging	Het
Csnk1e	C	T	15: 79,438,767		probably null	Het
Ctsj	C	A	13: 61,003,083	E187*	probably null	Het
D730001G18Rik	C	T	15: 74,772,270	V66M		Het
Dagla	A	T	19: 10,256,295		probably null	Het
Dnah7a	G	A	1: 53,419,753	T3742I	probably benign	Het
Dnajc6	A	C	4: 101,615,615	H381P	probably damaging	Het
Dyrk3	A	T	1: 131,129,728	L236Q	probably damaging	Het
Edc4	T	A	8: 105,888,002	D105E	probably damaging	Het
Frmd5	A	T	2: 121,557,870	L241Q	probably damaging	Het
Gins1	C	T	2: 150,909,751		probably null	Het
Gli3	T	A	13: 15,725,695	N1222K	possibly damaging	Het
Gm15922	C	G	7: 3,737,320	A301P	probably damaging	Het
Gm4302	G	T	10: 100,341,659	Q268H	unknown	Het
Grin2d	A	T	7: 45,857,498	W518R	probably damaging	Het
Grm5	A	T	7: 88,074,304	I601F	probably damaging	Het
Gtpbp10	A	T	5: 5,546,365	N193K	probably benign	Het
Igdcc4	T	G	9: 65,130,731	V798G	probably damaging	Het
Igkv8-19	A	T	6: 70,341,412	F13I	probably benign	Het
Kctd11	T	A	11: 69,879,795	N139I	probably benign	Het
Lmo7	G	A	14: 101,898,700		probably null	Het
Lrrk2	A	T	15: 91,801,920	M2155L	probably benign	Het
Mettl24	A	C	10: 40,683,513	H53P	probably benign	Het
Mier2	A	G	10: 79,540,299	M264T	unknown	Het
Mplkip	T	C	13: 17,695,537	I18T	unknown	Het
Mtmr2	T	C	9: 13,788,620	V101A	probably benign	Het
Nbeal2	G	T	9: 110,626,051	T2593K	probably benign	Het
Neu3	A	T	7: 99,814,197	C106*	probably null	Het
Nutm1	T	C	2: 112,251,847	T295A	probably benign	Het
Olfr753-ps1	A	G	17: 37,170,378	I90T	probably benign	Het
Pcdhga7	G	T	18: 37,717,276	V779L	probably benign	Het
Pde10a	A	G	17: 8,943,026	E231G	probably benign	Het
Plcg2	T	A	8: 117,589,835		probably null	Het
Pofut2	T	C	10: 77,259,429	L36P	probably benign	Het
Pou6f2	T	C	13: 18,125,169	N635S		Het
Pramef17	A	C	4: 143,994,128	I81R	probably damaging	Het
Ptpra	T	C	2: 130,553,430	Y818H	probably damaging	Het
Rad18	T	C	6: 112,681,440	E168G	probably benign	Het
Rev1	C	A	1: 38,067,545	E634*	probably null	Het
Sec24d	A	G	3: 123,330,351	D403G	probably damaging	Het
Sema5a	C	A	15: 32,574,959	H404Q	possibly damaging	Het
Shank1	A	G	7: 44,344,946	S844G	unknown	Het
Slc32a1	T	A	2: 158,611,496	Y85*	probably null	Het
Slc39a4	T	C	15: 76,613,258	T485A	probably damaging	Het
Sp5	A	C	2: 70,476,730	Q253P	probably benign	Het
Sspo	A	T	6: 48,454,979	D709V	probably damaging	Het
Sucnr1	A	G	3: 60,086,183	Y44C	probably damaging	Het
Taar8b	A	G	10: 24,091,978	L106P	possibly damaging	Het
Tbc1d9	A	G	8: 83,264,865	D922G	probably damaging	Het
Tbx6	A	T	7: 126,784,740	D322V	probably benign	Het
Tex15	T	A	8: 33,575,431	S1630T	possibly damaging	Het
Ube2o	G	A	11: 116,541,501	P880S	probably benign	Het
Uck1	C	T	2: 32,258,166	R182Q	probably damaging	Het
Utrn	T	A	10: 12,465,213	H2840L	probably damaging	Het
Vps8	A	G	16: 21,581,579	T1266A	probably benign	Het
Wnk1	A	T	6: 119,937,861	I1909N	unknown	Het
Zfp352	C	T	4: 90,224,424	T267I	probably benign	Het
Zfp773	A	T	7: 7,132,875	C241S	probably benign	Het
Zfp934	T	C	13: 62,520,525	D8G	probably damaging	Het

Other mutations in Gcc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Gcc2	APN	10	58292680	missense	probably damaging	1.00
IGL00850:Gcc2	APN	10	58258248	missense	probably benign	0.00
IGL00935:Gcc2	APN	10	58278779	splice site	probably benign
IGL01551:Gcc2	APN	10	58298869	splice site	probably benign
IGL01642:Gcc2	APN	10	58280612	missense	probably benign	0.00
IGL02041:Gcc2	APN	10	58269281	missense	probably damaging	1.00
IGL02215:Gcc2	APN	10	58271636	missense	probably benign	0.36
IGL02448:Gcc2	APN	10	58292571	nonsense	probably null
IGL02698:Gcc2	APN	10	58271290	missense	possibly damaging	0.76
IGL02888:Gcc2	APN	10	58294828	missense	probably damaging	1.00
IGL02936:Gcc2	APN	10	58296140	missense	probably damaging	1.00
IGL03223:Gcc2	APN	10	58298734	missense	probably damaging	1.00
IGL03249:Gcc2	APN	10	58270992	nonsense	probably null
R0179:Gcc2	UTSW	10	58276650	missense	probably benign	0.39
R0528:Gcc2	UTSW	10	58298689	missense	probably damaging	1.00
R1569:Gcc2	UTSW	10	58270171	missense	probably benign	0.00
R1606:Gcc2	UTSW	10	58269448	missense	probably damaging	1.00
R1725:Gcc2	UTSW	10	58304115	missense	possibly damaging	0.95
R1916:Gcc2	UTSW	10	58276663	missense	probably damaging	1.00
R1956:Gcc2	UTSW	10	58286143	missense	possibly damaging	0.66
R2058:Gcc2	UTSW	10	58285957	missense	probably benign	0.10
R2114:Gcc2	UTSW	10	58269540	nonsense	probably null
R2280:Gcc2	UTSW	10	58269680	missense	probably benign	0.38
R2435:Gcc2	UTSW	10	58294780	missense	probably damaging	1.00
R2876:Gcc2	UTSW	10	58290302	missense	probably damaging	0.99
R4753:Gcc2	UTSW	10	58290382	missense	probably benign	0.20
R4827:Gcc2	UTSW	10	58286131	critical splice acceptor site	probably null
R4911:Gcc2	UTSW	10	58270439	missense	probably damaging	1.00
R5033:Gcc2	UTSW	10	58278806	missense	probably damaging	0.98
R5224:Gcc2	UTSW	10	58286160	missense	probably damaging	1.00
R5271:Gcc2	UTSW	10	58269695	missense	possibly damaging	0.46
R5398:Gcc2	UTSW	10	58269507	missense	probably benign	0.00
R5411:Gcc2	UTSW	10	58270969	missense	probably damaging	0.99
R5594:Gcc2	UTSW	10	58287242	missense	probably damaging	0.99
R5825:Gcc2	UTSW	10	58294821	missense	probably damaging	1.00
R5974:Gcc2	UTSW	10	58258243	missense	probably damaging	0.99
R5987:Gcc2	UTSW	10	58255847	utr 5 prime	probably benign
R6195:Gcc2	UTSW	10	58270984	missense	probably damaging	0.96
R6198:Gcc2	UTSW	10	58292590	missense	probably benign	0.26
R6233:Gcc2	UTSW	10	58270984	missense	probably damaging	0.96
R6331:Gcc2	UTSW	10	58271465	missense	probably benign
R6349:Gcc2	UTSW	10	58269474	missense	probably benign	0.01
R6593:Gcc2	UTSW	10	58271507	missense	probably damaging	1.00
R6632:Gcc2	UTSW	10	58270049	splice site	probably null
R6647:Gcc2	UTSW	10	58287281	critical splice donor site	probably null
R6774:Gcc2	UTSW	10	58281439	missense	possibly damaging	0.94
R6808:Gcc2	UTSW	10	58258242	missense	probably damaging	0.99
R7220:Gcc2	UTSW	10	58280594	missense	probably benign	0.00
R7352:Gcc2	UTSW	10	58280698	critical splice donor site	probably null
R7384:Gcc2	UTSW	10	58269964	missense	probably damaging	1.00
R7439:Gcc2	UTSW	10	58256901	missense	probably benign	0.08
R7441:Gcc2	UTSW	10	58256901	missense	probably benign	0.08
R7543:Gcc2	UTSW	10	58271264	missense	probably benign	0.02
R7843:Gcc2	UTSW	10	58268021	missense	possibly damaging	0.77
R7850:Gcc2	UTSW	10	58278881	missense	probably damaging	0.96
R7980:Gcc2	UTSW	10	58278752	splice site	probably null
R8336:Gcc2	UTSW	10	58272367	missense	probably damaging	0.99
X0018:Gcc2	UTSW	10	58278814	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CATGTACTTAGCCAGTCTTGGTC -3'
(R):5'- GGAGTTTCTTTTCGAATTCAGCAAC -3'

Sequencing Primer
(F):5'- GCCAGTCTTGGTCAAAAAGATAC -3'
(R):5'- CAGCAACATGTTCTTTATGGGC -3'

Posted On

2019-05-15