Mutagenetix > Incidental Mutation

Incidental Mutation 'R2058:Gcc2'

228385

Institutional Source

Beutler Lab

Gene Symbol

Gcc2

Ensembl Gene

ENSMUSG00000038039

Gene Name

GRIP and coiled-coil domain containing 2

Synonyms

0610043A03Rik, 2210420P05Rik, 2600014C01Rik

MMRRC Submission

040063-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.198) question?

Stock #

R2058 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58091319-58141421 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58121779 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 1102 (S1102T)

Ref Sequence

ENSEMBL: ENSMUSP00000124152 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000057659
AA Change: S1202T

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000054033
Gene: ENSMUSG00000038039
AA Change: S1202T

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

noncoding transcript
Transcript: ENSMUST00000160636

Predicted Effect

probably benign
Transcript: ENSMUST00000162041
AA Change: S1166T

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000124787
Gene: ENSMUSG00000038039
AA Change: S1166T

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: S1102T

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

SMART Domains

Protein: ENSMUSP00000124152
Gene: ENSMUSG00000038039
AA Change: S1102T

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

Meta Mutation Damage Score

0.0591

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

99% (94/95)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	A	T	8: 25,162,082 (GRCm39)		probably benign	Het
Adgrf5	A	G	17: 43,739,477 (GRCm39)	Y72C	possibly damaging	Het
Alas1	T	C	9: 106,118,489 (GRCm39)	E211G	probably damaging	Het
Alkbh1	C	T	12: 87,490,520 (GRCm39)		probably benign	Het
Ano1	A	G	7: 144,201,789 (GRCm39)	V334A	probably damaging	Het
Arhgap18	C	T	10: 26,730,904 (GRCm39)	T122I	probably benign	Het
Arhgef4	A	G	1: 34,761,458 (GRCm39)	K238R	unknown	Het
Atf6b	A	T	17: 34,867,549 (GRCm39)		probably null	Het
Atp2a1	G	A	7: 126,046,844 (GRCm39)	A847V	possibly damaging	Het
Baz1b	T	A	5: 135,246,079 (GRCm39)	N509K	probably benign	Het
BC051076	A	T	5: 88,111,844 (GRCm39)		noncoding transcript	Het
Cage1	A	G	13: 38,207,356 (GRCm39)	V163A	probably benign	Het
Canx	T	C	11: 50,195,252 (GRCm39)	N272S	probably damaging	Het
Cd302	T	A	2: 60,082,767 (GRCm39)	I186F	possibly damaging	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cep112	T	A	11: 108,410,087 (GRCm39)		probably null	Het
Cmtm4	A	C	8: 105,081,920 (GRCm39)	F156V	probably damaging	Het
Col4a1	T	A	8: 11,260,792 (GRCm39)	D1330V	probably damaging	Het
Ctsa	T	G	2: 164,676,822 (GRCm39)	M136R	probably null	Het
Cyp2d10	T	A	15: 82,288,015 (GRCm39)	I363F	probably damaging	Het
Dmbt1	G	A	7: 130,707,900 (GRCm39)	A1381T	possibly damaging	Het
Dmwd	T	A	7: 18,814,652 (GRCm39)	L434Q	probably damaging	Het
Fat4	T	A	3: 38,945,319 (GRCm39)	M1404K	possibly damaging	Het
Gcm2	T	C	13: 41,263,430 (GRCm39)	M1V	probably null	Het
Gna14	G	C	19: 16,585,505 (GRCm39)		probably benign	Het
Gsk3b	T	A	16: 38,008,271 (GRCm39)	D192E	probably benign	Het
Gulo	A	G	14: 66,228,608 (GRCm39)	V270A	possibly damaging	Het
Hps5	T	A	7: 46,417,475 (GRCm39)	D904V	probably damaging	Het
Il7	A	T	3: 7,638,975 (GRCm39)	N130K	probably damaging	Het
Jak3	A	T	8: 72,138,027 (GRCm39)		probably null	Het
Klhl6	T	G	16: 19,801,681 (GRCm39)	T25P	probably benign	Het
Kremen2	T	C	17: 23,961,691 (GRCm39)	E272G	possibly damaging	Het
Map3k21	A	G	8: 126,665,461 (GRCm39)	K550R	probably benign	Het
Mphosph10	T	A	7: 64,026,499 (GRCm39)	L650F	probably damaging	Het
Mrpl48	T	C	7: 100,198,540 (GRCm39)	E204G	probably damaging	Het
Msh5	A	C	17: 35,248,732 (GRCm39)	V738G	probably damaging	Het
Mybph	G	A	1: 134,127,857 (GRCm39)	C473Y	probably damaging	Het
Nid1	A	C	13: 13,675,058 (GRCm39)	H926P	probably benign	Het
Nlrp9a	T	A	7: 26,256,787 (GRCm39)	I46K	possibly damaging	Het
Notch3	T	C	17: 32,362,618 (GRCm39)	T1336A	probably benign	Het
Nsun4	T	C	4: 115,910,877 (GRCm39)		probably null	Het
Or1e30	A	G	11: 73,678,100 (GRCm39)	N112S	probably benign	Het
Or5m10	A	T	2: 85,717,296 (GRCm39)	T51S	possibly damaging	Het
Osgin1	A	G	8: 120,172,412 (GRCm39)	D402G	possibly damaging	Het
Patl1	A	G	19: 11,909,511 (GRCm39)	E479G	possibly damaging	Het
Pbsn	T	C	X: 76,891,582 (GRCm39)	K72E	probably damaging	Het
Pcdhb13	A	G	18: 37,577,620 (GRCm39)	Q666R	possibly damaging	Het
Pi4k2b	G	A	5: 52,908,022 (GRCm39)	V131I	probably benign	Het
Pkn2	G	A	3: 142,559,232 (GRCm39)	H98Y	possibly damaging	Het
Pms1	A	G	1: 53,314,327 (GRCm39)	Y73H	probably benign	Het
Ppt2	A	T	17: 34,841,818 (GRCm39)		probably benign	Het
Prkdc	A	G	16: 15,545,469 (GRCm39)	T1862A	probably benign	Het
Prl6a1	T	C	13: 27,503,081 (GRCm39)	Y231H	probably benign	Het
Ranbp3l	T	A	15: 9,029,641 (GRCm39)	V41D	probably damaging	Het
Rhobtb2	T	C	14: 70,031,488 (GRCm39)	T546A	possibly damaging	Het
Ripk4	A	T	16: 97,545,342 (GRCm39)	L372*	probably null	Het
Rnf126	A	G	10: 79,594,971 (GRCm39)		probably benign	Het
S100pbp	A	G	4: 129,075,893 (GRCm39)	V144A	probably benign	Het
Saal1	T	C	7: 46,348,880 (GRCm39)	Q317R	probably damaging	Het
Sap25	G	A	5: 137,641,034 (GRCm39)	G277R	probably damaging	Het
Senp2	C	T	16: 21,832,949 (GRCm39)	T79I	probably damaging	Het
Serpinb9c	A	T	13: 33,340,854 (GRCm39)	C81*	probably null	Het
Set	A	G	2: 29,959,048 (GRCm39)	K70E	possibly damaging	Het
Setd3	A	G	12: 108,073,600 (GRCm39)	I559T	probably benign	Het
Sik1	A	G	17: 32,067,771 (GRCm39)	S435P	probably benign	Het
Skint3	A	T	4: 112,112,980 (GRCm39)	K197*	probably null	Het
Skint5	T	A	4: 113,727,897 (GRCm39)	I402F	possibly damaging	Het
Slc18a1	G	A	8: 69,496,613 (GRCm39)	T350M	probably damaging	Het
Slc19a3	A	T	1: 82,992,512 (GRCm39)	I403K	probably damaging	Het
Slc1a7	C	T	4: 107,861,636 (GRCm39)	T225I	probably benign	Het
Slc38a4	T	C	15: 96,906,606 (GRCm39)	I336V	probably benign	Het
Smarcc1	A	G	9: 109,947,411 (GRCm39)		probably benign	Het
St8sia5	A	T	18: 77,342,459 (GRCm39)	I390F	probably damaging	Het
Strc	A	T	2: 121,209,368 (GRCm39)	W290R	probably damaging	Het
Svep1	T	C	4: 58,084,554 (GRCm39)	D1858G	possibly damaging	Het
Sympk	G	A	7: 18,777,454 (GRCm39)	R568Q	probably damaging	Het
Tex44	A	C	1: 86,354,728 (GRCm39)	K212N	probably damaging	Het
Tgm4	T	C	9: 122,890,835 (GRCm39)	I54T	probably damaging	Het
Thrap3	C	T	4: 126,073,967 (GRCm39)	V260I	probably damaging	Het
Thsd7a	A	T	6: 12,318,105 (GRCm39)		probably benign	Het
Trim12c	A	G	7: 103,997,398 (GRCm39)	F53L	possibly damaging	Het
Ttc6	T	A	12: 57,784,479 (GRCm39)	D1849E	probably benign	Het
Ubap2l	A	T	3: 89,938,683 (GRCm39)		probably benign	Het
Umodl1	G	A	17: 31,227,740 (GRCm39)		probably null	Het
Usp17la	A	C	7: 104,510,378 (GRCm39)	T328P	probably damaging	Het
Vmn2r113	T	A	17: 23,177,223 (GRCm39)	L669*	probably null	Het
Vps13b	T	A	15: 35,841,593 (GRCm39)	V2541E	probably damaging	Het
Wnt3	T	C	11: 103,703,111 (GRCm39)	I198T	probably damaging	Het
Zfp316	T	C	5: 143,249,161 (GRCm39)	E158G	unknown	Het
Zfp362	T	G	4: 128,680,780 (GRCm39)	I182L	possibly damaging	Het
Zfp804a	A	G	2: 82,087,710 (GRCm39)	D513G	probably benign	Het
Zfp879	C	T	11: 50,723,428 (GRCm39)	E543K	probably benign	Het
Zfp97	T	A	17: 17,365,018 (GRCm39)	N172K	possibly damaging	Het
Zmym6	A	T	4: 126,982,208 (GRCm39)	K82*	probably null	Het

Other mutations in Gcc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Gcc2	APN	10	58,128,502 (GRCm39)	missense	probably damaging	1.00
IGL00850:Gcc2	APN	10	58,094,070 (GRCm39)	missense	probably benign	0.00
IGL00935:Gcc2	APN	10	58,114,601 (GRCm39)	splice site	probably benign
IGL01551:Gcc2	APN	10	58,134,691 (GRCm39)	splice site	probably benign
IGL01642:Gcc2	APN	10	58,116,434 (GRCm39)	missense	probably benign	0.00
IGL02041:Gcc2	APN	10	58,105,103 (GRCm39)	missense	probably damaging	1.00
IGL02215:Gcc2	APN	10	58,107,458 (GRCm39)	missense	probably benign	0.36
IGL02448:Gcc2	APN	10	58,128,393 (GRCm39)	nonsense	probably null
IGL02698:Gcc2	APN	10	58,107,112 (GRCm39)	missense	possibly damaging	0.76
IGL02888:Gcc2	APN	10	58,130,650 (GRCm39)	missense	probably damaging	1.00
IGL02936:Gcc2	APN	10	58,131,962 (GRCm39)	missense	probably damaging	1.00
IGL03223:Gcc2	APN	10	58,134,556 (GRCm39)	missense	probably damaging	1.00
IGL03249:Gcc2	APN	10	58,106,814 (GRCm39)	nonsense	probably null
R0179:Gcc2	UTSW	10	58,112,472 (GRCm39)	missense	probably benign	0.39
R0528:Gcc2	UTSW	10	58,134,511 (GRCm39)	missense	probably damaging	1.00
R1569:Gcc2	UTSW	10	58,105,993 (GRCm39)	missense	probably benign	0.00
R1606:Gcc2	UTSW	10	58,105,270 (GRCm39)	missense	probably damaging	1.00
R1725:Gcc2	UTSW	10	58,139,937 (GRCm39)	missense	possibly damaging	0.95
R1916:Gcc2	UTSW	10	58,112,485 (GRCm39)	missense	probably damaging	1.00
R1956:Gcc2	UTSW	10	58,121,965 (GRCm39)	missense	possibly damaging	0.66
R2114:Gcc2	UTSW	10	58,105,362 (GRCm39)	nonsense	probably null
R2280:Gcc2	UTSW	10	58,105,502 (GRCm39)	missense	probably benign	0.38
R2435:Gcc2	UTSW	10	58,130,602 (GRCm39)	missense	probably damaging	1.00
R2876:Gcc2	UTSW	10	58,126,124 (GRCm39)	missense	probably damaging	0.99
R4753:Gcc2	UTSW	10	58,126,204 (GRCm39)	missense	probably benign	0.20
R4827:Gcc2	UTSW	10	58,121,953 (GRCm39)	critical splice acceptor site	probably null
R4911:Gcc2	UTSW	10	58,106,261 (GRCm39)	missense	probably damaging	1.00
R5033:Gcc2	UTSW	10	58,114,628 (GRCm39)	missense	probably damaging	0.98
R5224:Gcc2	UTSW	10	58,121,982 (GRCm39)	missense	probably damaging	1.00
R5271:Gcc2	UTSW	10	58,105,517 (GRCm39)	missense	possibly damaging	0.46
R5398:Gcc2	UTSW	10	58,105,329 (GRCm39)	missense	probably benign	0.00
R5411:Gcc2	UTSW	10	58,106,791 (GRCm39)	missense	probably damaging	0.99
R5594:Gcc2	UTSW	10	58,123,064 (GRCm39)	missense	probably damaging	0.99
R5825:Gcc2	UTSW	10	58,130,643 (GRCm39)	missense	probably damaging	1.00
R5974:Gcc2	UTSW	10	58,094,065 (GRCm39)	missense	probably damaging	0.99
R5987:Gcc2	UTSW	10	58,091,669 (GRCm39)	utr 5 prime	probably benign
R6195:Gcc2	UTSW	10	58,106,806 (GRCm39)	missense	probably damaging	0.96
R6198:Gcc2	UTSW	10	58,128,412 (GRCm39)	missense	probably benign	0.26
R6233:Gcc2	UTSW	10	58,106,806 (GRCm39)	missense	probably damaging	0.96
R6331:Gcc2	UTSW	10	58,107,287 (GRCm39)	missense	probably benign
R6349:Gcc2	UTSW	10	58,105,296 (GRCm39)	missense	probably benign	0.01
R6593:Gcc2	UTSW	10	58,107,329 (GRCm39)	missense	probably damaging	1.00
R6632:Gcc2	UTSW	10	58,105,871 (GRCm39)	splice site	probably null
R6647:Gcc2	UTSW	10	58,123,103 (GRCm39)	critical splice donor site	probably null
R6774:Gcc2	UTSW	10	58,117,261 (GRCm39)	missense	possibly damaging	0.94
R6808:Gcc2	UTSW	10	58,094,064 (GRCm39)	missense	probably damaging	0.99
R7072:Gcc2	UTSW	10	58,106,749 (GRCm39)	missense	probably benign	0.02
R7220:Gcc2	UTSW	10	58,116,416 (GRCm39)	missense	probably benign	0.00
R7352:Gcc2	UTSW	10	58,116,520 (GRCm39)	critical splice donor site	probably null
R7384:Gcc2	UTSW	10	58,105,786 (GRCm39)	missense	probably damaging	1.00
R7439:Gcc2	UTSW	10	58,092,723 (GRCm39)	missense	probably benign	0.08
R7441:Gcc2	UTSW	10	58,092,723 (GRCm39)	missense	probably benign	0.08
R7543:Gcc2	UTSW	10	58,107,086 (GRCm39)	missense	probably benign	0.02
R7843:Gcc2	UTSW	10	58,103,843 (GRCm39)	missense	possibly damaging	0.77
R7850:Gcc2	UTSW	10	58,114,703 (GRCm39)	missense	probably damaging	0.96
R7980:Gcc2	UTSW	10	58,114,574 (GRCm39)	splice site	probably null
R8336:Gcc2	UTSW	10	58,108,189 (GRCm39)	missense	probably damaging	0.99
R8785:Gcc2	UTSW	10	58,107,086 (GRCm39)	missense	probably benign	0.02
R8834:Gcc2	UTSW	10	58,121,867 (GRCm39)	critical splice donor site	probably null
R9006:Gcc2	UTSW	10	58,103,801 (GRCm39)	missense	probably damaging	1.00
R9036:Gcc2	UTSW	10	58,106,411 (GRCm39)	missense	possibly damaging	0.63
R9240:Gcc2	UTSW	10	58,106,398 (GRCm39)	nonsense	probably null
R9287:Gcc2	UTSW	10	58,105,217 (GRCm39)	nonsense	probably null
R9370:Gcc2	UTSW	10	58,131,940 (GRCm39)	missense	probably benign	0.00
R9433:Gcc2	UTSW	10	58,106,592 (GRCm39)	missense	probably benign	0.06
R9653:Gcc2	UTSW	10	58,110,822 (GRCm39)	missense	possibly damaging	0.87
X0018:Gcc2	UTSW	10	58,114,636 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGGTGCAGTAAGATTGGCTCTG -3'
(R):5'- TCCTGCAGAAAGAGAGCCATG -3'

Sequencing Primer
(F):5'- AGTAAGATTGGCTCTGTGTTCATAAG -3'
(R):5'- AGAGCCATGGTTAAGTTAAACAC -3'

Posted On

2014-09-17