Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02698:Gcc2'

304036

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gcc2

Ensembl Gene

ENSMUSG00000038039

Gene Name

GRIP and coiled-coil domain containing 2

Synonyms

2600014C01Rik, 0610043A03Rik, 2210420P05Rik

Accession Numbers

Is this an essential gene?

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

Stock #

IGL02698

Quality Score

Status

Chromosome

Chromosomal Location

58255497-58305599 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58271290 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 683 (K683E)

Ref Sequence

ENSEMBL: ENSMUSP00000124152 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057659
AA Change: K783E

PolyPhen 2 Score 0.756 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000054033
Gene: ENSMUSG00000038039
AA Change: K783E

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

noncoding transcript
Transcript: ENSMUST00000160677

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161570

Predicted Effect

probably benign
Transcript: ENSMUST00000162041
AA Change: K747E

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000124787
Gene: ENSMUSG00000038039
AA Change: K747E

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

possibly damaging
Transcript: ENSMUST00000162860
AA Change: K683E

PolyPhen 2 Score 0.756 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000124152
Gene: ENSMUSG00000038039
AA Change: K683E

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

Validation Efficiency

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arpp21	T	A	9: 112,185,744		probably benign	Het
Car8	A	T	4: 8,185,598	I186N	probably benign	Het
Ccdc174	G	A	6: 91,890,853	S183N	probably benign	Het
Ccdc66	T	A	14: 27,490,792	K525*	probably null	Het
Cebpz	A	G	17: 78,935,574	V217A	probably benign	Het
Cfap36	C	A	11: 29,247,014		probably null	Het
Cpne4	T	C	9: 105,032,785	V527A	probably damaging	Het
Crh	T	G	3: 19,694,190	D96A	possibly damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dcp1a	A	T	14: 30,505,542		probably benign	Het
Ddhd1	A	T	14: 45,605,206		probably benign	Het
Dis3l2	C	T	1: 87,048,829		probably benign	Het
Dopey1	T	C	9: 86,524,359		probably benign	Het
Etv3	A	G	3: 87,536,578	T490A	possibly damaging	Het
Fastkd2	A	G	1: 63,747,999	T531A	probably benign	Het
Fat1	C	T	8: 45,023,164	A1749V	probably benign	Het
Fgfr1	T	A	8: 25,573,608	L761*	probably null	Het
Gm17677	T	C	9: 35,741,120		probably benign	Het
Gm5117	C	T	8: 31,739,739		noncoding transcript	Het
Hif1a	T	C	12: 73,930,771		probably null	Het
Inha	A	G	1: 75,509,883	E274G	probably damaging	Het
Itih2	G	T	2: 10,130,501	P26H	probably damaging	Het
Kif23	G	A	9: 61,925,001	T620I	possibly damaging	Het
Klhl30	T	C	1: 91,353,707	F10S	probably damaging	Het
Kmt2b	T	C	7: 30,578,693		probably benign	Het
Lmf2	A	C	15: 89,354,154	L174R	probably damaging	Het
Med13l	T	C	5: 118,762,829	L2216P	probably damaging	Het
Mmp1b	T	A	9: 7,384,877	L257F	probably damaging	Het
Net1	A	G	13: 3,887,569		probably null	Het
Nfasc	A	G	1: 132,634,737	V100A	probably benign	Het
Nr4a2	A	G	2: 57,108,160	F535S	probably damaging	Het
Ntn4	G	T	10: 93,644,659	A45S	probably benign	Het
Olfr1141	T	A	2: 87,753,844	K50*	probably null	Het
Olfr1197	T	A	2: 88,729,471	I43F	probably damaging	Het
Olfr1386	T	A	11: 49,470,863	F237L	probably benign	Het
Olfr243	T	C	7: 103,717,278	V228A	probably damaging	Het
Olfr25	A	G	9: 38,330,210	T208A	probably benign	Het
Pappa	A	T	4: 65,181,020	E592V	probably damaging	Het
Pi4ka	A	T	16: 17,291,168	I1630N	probably damaging	Het
Ptprb	A	G	10: 116,363,280	D1997G	probably benign	Het
Rc3h2	A	T	2: 37,405,300	S235T	probably damaging	Het
S1pr1	T	A	3: 115,712,097	K283*	probably null	Het
Scn5a	T	A	9: 119,521,097	T904S	probably damaging	Het
Sema6d	T	C	2: 124,653,723	L30P	possibly damaging	Het
Slc26a7	A	C	4: 14,593,867	S83A	possibly damaging	Het
Slco1a6	C	A	6: 142,103,011	G348*	probably null	Het
Srgap3	C	T	6: 112,746,928	V524I	probably damaging	Het
Stxbp3-ps	A	T	19: 9,558,324		noncoding transcript	Het
Sv2b	C	T	7: 75,140,978		probably null	Het
Sympk	T	C	7: 19,045,634	I663T	probably benign	Het
Ttn	C	A	2: 76,944,771	V1976L	probably damaging	Het
Uqcrc1	T	C	9: 108,947,943		probably null	Het
Vmn2r111	T	C	17: 22,571,245	Y260C	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
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
R7072:Gcc2	UTSW	10	58270927	missense	probably benign	0.02
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

Posted On

2015-04-16