Mutagenetix > Incidental Mutation

Incidental Mutation 'R7439:Gcc2'

576831

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

Essential gene?

Probably non essential (E-score: 0.216) question?

Stock #

R7439 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58255497-58305599 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58256901 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 48 (T48A)

Ref Sequence

ENSEMBL: ENSMUSP00000054033 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000057659
AA Change: T48A

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000054033
Gene: ENSMUSG00000038039
AA Change: T48A

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: ENSMUST00000160427
AA Change: T12A

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

SMART Domains

Protein: ENSMUSP00000124411
Gene: ENSMUSG00000038039
AA Change: T12A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000162041
AA Change: T12A

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000124787
Gene: ENSMUSG00000038039
AA Change: T12A

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

SMART Domains

Protein: ENSMUSP00000124152
Gene: ENSMUSG00000038039

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: 99.8%
20x: 99.4%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530003J23Rik	G	A	10: 117,238,697		probably benign	Het
Acacb	T	C	5: 114,195,642	V542A	possibly damaging	Het
Adprhl1	C	T	8: 13,223,069	V1230I	probably benign	Het
Agpat1	T	A	17: 34,610,909	Y77N	probably damaging	Het
Apc	T	A	18: 34,312,073	I674K	probably damaging	Het
Arpc5	T	C	1: 152,771,436	S97P	probably damaging	Het
Arrdc5	A	G	17: 56,297,931	F119L	probably benign	Het
Asap1	A	G	15: 64,130,256	V402A	probably damaging	Het
Aspg	T	C	12: 112,124,821	V479A	possibly damaging	Het
B3galnt2	G	A	13: 13,994,485	V368M	probably benign	Het
Bcl3	T	C	7: 19,822,611	T23A	probably benign	Het
Bpifb5	A	G	2: 154,228,933	K215E	possibly damaging	Het
Coa4	T	A	7: 100,539,271	C64S	probably damaging	Het
Dcun1d4	T	C	5: 73,491,536		probably null	Het
Dnaaf5	T	G	5: 139,166,113	C506W	probably damaging	Het
Dock3	A	G	9: 107,023,732	Y345H	probably damaging	Het
Dscaml1	A	G	9: 45,710,326	N1024S	possibly damaging	Het
Dsp	T	C	13: 38,176,502		probably null	Het
Dsp	A	G	13: 38,195,449	T2057A	probably benign	Het
Dync1h1	T	G	12: 110,636,453	L2176R	probably damaging	Het
Eif5b	A	C	1: 38,051,637	D1192A	probably benign	Het
Epn2	A	T	11: 61,546,848		probably benign	Het
Exoc1	T	A	5: 76,545,348	N360K	probably benign	Het
Fam135b	A	T	15: 71,463,680	V555E	probably damaging	Het
Fam208a	T	A	14: 27,471,645	V934E	probably damaging	Het
Fmn1	A	T	2: 113,441,611	Q108L	unknown	Het
Gm438	T	C	4: 144,777,762	D273G	probably damaging	Het
Gm6619	T	G	6: 131,490,391	I73S	possibly damaging	Het
Gm8267	T	A	14: 44,722,940	D116V	probably damaging	Het
Hapln3	T	A	7: 79,117,269	T341S	probably benign	Het
Lamb3	C	A	1: 193,332,166	D544E	possibly damaging	Het
Lhx5	T	A	5: 120,440,284	S390T	probably benign	Het
Lrrc63	A	G	14: 75,126,257	S145P	possibly damaging	Het
Lrriq1	T	C	10: 103,214,519	M791V	probably benign	Het
Lyg2	A	G	1: 37,911,137	Y37H	possibly damaging	Het
Nrbp1	T	A	5: 31,244,956	M172K	probably damaging	Het
Olfr1044	T	A	2: 86,171,010	D269V	probably damaging	Het
Olfr1261	A	G	2: 89,993,839	I149V	probably benign	Het
Olfr168	T	G	16: 19,530,900	S7R	probably benign	Het
Pcyt2	A	T	11: 120,611,383	Y308N	possibly damaging	Het
Peg10	C	CTCA	6: 4,756,453		probably benign	Het
Phf21b	A	G	15: 84,804,903	S141P	probably damaging	Het
Pigh	G	A	12: 79,089,550	P24S	probably benign	Het
Plekhg3	A	G	12: 76,576,485	D834G	probably damaging	Het
Plekhg5	T	A	4: 152,113,935	V860D	probably benign	Het
Pon1	A	G	6: 5,177,399	I170T	probably damaging	Het
Ptpn9	T	A	9: 57,027,433	Y160*	probably null	Het
Ptprj	T	C	2: 90,449,819	K1045R	possibly damaging	Het
Rilpl2	T	A	5: 124,463,788	H196L	probably benign	Het
Rnf112	C	T	11: 61,451,028	V317I	possibly damaging	Het
Rundc3a	G	T	11: 102,400,046		probably null	Het
Sgsm1	T	C	5: 113,274,321	Y489C	probably damaging	Het
Sis	G	A	3: 72,909,041	H1531Y	possibly damaging	Het
Slc26a9	A	G	1: 131,762,818	Y520C	probably damaging	Het
Smc5	A	G	19: 23,242,700	V467A	probably damaging	Het
Spata20	G	A	11: 94,484,041	A245V	probably benign	Het
Steap3	A	C	1: 120,241,518	F350V	probably benign	Het
Sucnr1	A	G	3: 60,086,696	Q215R	probably benign	Het
Supv3l1	G	A	10: 62,430,615	A594V	probably damaging	Het
Swt1	A	T	1: 151,411,064	F226I	probably benign	Het
Taar7f	A	G	10: 24,049,987	T160A	possibly damaging	Het
Tada2a	A	T	11: 84,126,986		probably null	Het
Taok3	C	A	5: 117,250,909	Q460K	probably damaging	Het
Twf2	A	G	9: 106,214,398	E268G	probably damaging	Het
Upf2	A	T	2: 6,018,932	I698F	unknown	Het
Vmn2r35	T	A	7: 7,817,014	N86Y	probably damaging	Het
Vmn2r84	T	C	10: 130,392,113	T85A	possibly damaging	Het
Vps13d	A	G	4: 145,105,856	S2833P		Het
Xrn1	T	C	9: 96,051,629	S1584P	probably benign	Het
Zfp354b	T	C	11: 50,922,397	Y567C	probably damaging	Het
Zfp52	A	T	17: 21,560,870	R327*	probably null	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
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
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
R8785:Gcc2	UTSW	10	58271264	missense	probably benign	0.02
R8834:Gcc2	UTSW	10	58286045	critical splice donor site	probably null
R9006:Gcc2	UTSW	10	58267979	missense	probably damaging	1.00
R9036:Gcc2	UTSW	10	58270589	missense	possibly damaging	0.63
R9240:Gcc2	UTSW	10	58270576	nonsense	probably null
R9287:Gcc2	UTSW	10	58269395	nonsense	probably null
R9370:Gcc2	UTSW	10	58296118	missense	probably benign	0.00
R9433:Gcc2	UTSW	10	58270770	missense	probably benign	0.06
R9653:Gcc2	UTSW	10	58275000	missense	possibly damaging	0.87
X0018:Gcc2	UTSW	10	58278814	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GGTTTTCGGCAGACACTGTG -3'
(R):5'- TGGAGGATTACACCTTGTGC -3'

Sequencing Primer
(F):5'- CGGCAGACACTGTGTTTCTTTTG -3'
(R):5'- TGGTGGCTCACAACTGTAAC -3'

Posted On

2019-10-07