Mutagenetix > Incidental Mutation

Incidental Mutation 'R9653:Gcc2'

727208

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

Accession Numbers

Essential gene?

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

Stock #

R9653 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58091319-58141421 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58110822 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 1001 (M1001T)

Ref Sequence

ENSEMBL: ENSMUSP00000054033 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057659
AA Change: M1001T

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000054033
Gene: ENSMUSG00000038039
AA Change: M1001T

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

possibly damaging
Transcript: ENSMUST00000160416
AA Change: M15T

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000123873
Gene: ENSMUSG00000038039
AA Change: M15T

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162041
AA Change: M965T

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124787
Gene: ENSMUSG00000038039
AA Change: M965T

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: M901T

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124152
Gene: ENSMUSG00000038039
AA Change: M901T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,243,741 (GRCm39)	P1868L	probably benign	Het
Abcc1	T	C	16: 14,214,257 (GRCm39)	Y191H	probably damaging	Het
Adamtsl5	C	T	10: 80,180,763 (GRCm39)	G100R	probably damaging	Het
Adgrg5	C	T	8: 95,663,864 (GRCm39)	P235S		Het
Anks1b	T	G	10: 90,346,524 (GRCm39)	L608R	probably damaging	Het
Ano10	C	G	9: 122,080,221 (GRCm39)	A597P	possibly damaging	Het
Calb2	T	C	8: 110,881,374 (GRCm39)	M58V	probably benign	Het
Ccdc180	T	C	4: 45,923,495 (GRCm39)	I1092T	probably damaging	Het
Ces3b	G	T	8: 105,812,257 (GRCm39)	A169S	probably damaging	Het
Chmp2a	A	T	7: 12,766,456 (GRCm39)	F129I	probably damaging	Het
Clasp2	T	A	9: 113,670,993 (GRCm39)	W365R	probably benign	Het
Col12a1	T	C	9: 79,584,556 (GRCm39)	K1344R	probably benign	Het
Col3a1	A	G	1: 45,360,728 (GRCm39)	I53V	unknown	Het
Coro2b	T	C	9: 62,335,259 (GRCm39)	Y309C	probably damaging	Het
Cramp1	C	A	17: 25,201,783 (GRCm39)	K566N	probably damaging	Het
Crygs	T	A	16: 22,625,304 (GRCm39)	T46S	probably benign	Het
Ctbp2	C	G	7: 132,615,933 (GRCm39)	R334P	probably damaging	Het
Dcstamp	A	T	15: 39,623,792 (GRCm39)	D469V	probably benign	Het
Dhdh	T	C	7: 45,128,551 (GRCm39)	D209G	probably damaging	Het
Dnah7b	T	C	1: 46,252,544 (GRCm39)	V1742A	possibly damaging	Het
Dnaja2	T	C	8: 86,265,982 (GRCm39)	T368A	probably benign	Het
Dscaml1	T	C	9: 45,643,466 (GRCm39)		probably null	Het
Eps8l1	A	T	7: 4,481,886 (GRCm39)	K704M	unknown	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Fgd4	T	A	16: 16,254,461 (GRCm39)	H524L	probably benign	Het
Fktn	T	A	4: 53,731,273 (GRCm39)	F103I	probably benign	Het
Gm4847	T	C	1: 166,467,582 (GRCm39)	S205G	possibly damaging	Het
Grid2	A	T	6: 63,907,968 (GRCm39)	N203Y	possibly damaging	Het
Hif3a	G	A	7: 16,782,641 (GRCm39)	A308V	probably damaging	Het
Htr5a	A	G	5: 28,047,838 (GRCm39)	N131S	possibly damaging	Het
Igfn1	G	A	1: 135,883,323 (GRCm39)	Q2728*	probably null	Het
Ighv5-16	C	A	12: 113,802,313 (GRCm39)	K62N	possibly damaging	Het
Ip6k3	A	T	17: 27,367,588 (GRCm39)	Y203N	possibly damaging	Het
Itga2	G	A	13: 115,020,991 (GRCm39)	P120L	probably benign	Het
Itpkb	G	T	1: 180,160,056 (GRCm39)	E61*	probably null	Het
Kcnj3	G	A	2: 55,484,864 (GRCm39)	V321M	probably damaging	Het
Kmt2c	A	G	5: 25,507,819 (GRCm39)	L3206P	probably damaging	Het
Krtap5-4	T	C	7: 141,857,908 (GRCm39)	C193R	unknown	Het
Large1	G	T	8: 73,564,106 (GRCm39)	H553Q	probably benign	Het
Lrfn5	T	A	12: 61,890,418 (GRCm39)	V569D	probably damaging	Het
Luzp2	A	G	7: 54,702,580 (GRCm39)	T48A	probably damaging	Het
Lypd6	A	T	2: 50,080,758 (GRCm39)	T149S	probably benign	Het
Map3k1	T	C	13: 111,890,296 (GRCm39)	N1301S	possibly damaging	Het
Ndufv2	C	T	17: 66,396,251 (GRCm39)	W91*	probably null	Het
Nisch	A	T	14: 30,893,628 (GRCm39)	V1315E	probably damaging	Het
Npas1	T	C	7: 16,190,146 (GRCm39)	I467V	probably benign	Het
Nucb1	A	G	7: 45,144,202 (GRCm39)	M337T	probably benign	Het
Oog3	T	G	4: 143,884,489 (GRCm39)	R482S	probably benign	Het
Or10d4b	T	C	9: 39,535,154 (GRCm39)	L243P	probably damaging	Het
Or4f14c	A	T	2: 111,941,261 (GRCm39)	M112K	probably damaging	Het
Or51ag1	C	T	7: 103,155,727 (GRCm39)	R142H	probably benign	Het
Or56a42-ps1	A	T	7: 104,775,985 (GRCm39)	N164K	probably benign	Het
Padi2	T	C	4: 140,662,036 (GRCm39)		probably null	Het
Pam	C	T	1: 97,768,469 (GRCm39)	V660M	possibly damaging	Het
Phc2	C	T	4: 128,641,012 (GRCm39)	L700F	probably damaging	Het
Plekha1	T	C	7: 130,479,494 (GRCm39)	V4A	possibly damaging	Het
Rai1	A	G	11: 60,080,142 (GRCm39)	E1402G	probably benign	Het
Recql5	G	A	11: 115,788,032 (GRCm39)	A429V	probably benign	Het
Rere	A	G	4: 150,516,010 (GRCm39)	N101S	probably benign	Het
Robo1	T	G	16: 72,821,330 (GRCm39)	S1357A	possibly damaging	Het
Rsl1	T	A	13: 67,330,106 (GRCm39)	Y185N	probably damaging	Het
Rsph3a	T	C	17: 8,165,074 (GRCm39)	S145P	possibly damaging	Het
Sall1	T	C	8: 89,757,506 (GRCm39)	E866G	probably damaging	Het
Sall3	A	T	18: 81,016,228 (GRCm39)	S567T	probably benign	Het
Sap30	G	A	8: 57,938,156 (GRCm39)	Q154*	probably null	Het
Sbf2	T	C	7: 110,040,702 (GRCm39)	Q375R	possibly damaging	Het
Scn8a	A	G	15: 100,937,947 (GRCm39)	E1772G	probably damaging	Het
Scube3	C	T	17: 28,375,772 (GRCm39)	A169V	probably damaging	Het
Sema6c	T	C	3: 95,080,525 (GRCm39)	S940P	probably benign	Het
Sertad4	C	T	1: 192,528,836 (GRCm39)	D327N	probably damaging	Het
Shisal2b	A	G	13: 105,000,296 (GRCm39)		probably benign	Het
Skp1	A	G	11: 52,134,514 (GRCm39)	T82A	possibly damaging	Het
Slc39a14	G	T	14: 70,547,248 (GRCm39)	T366K	probably damaging	Het
Snrnp200	G	T	2: 127,067,959 (GRCm39)	V819L	probably damaging	Het
Sntg1	T	A	1: 8,433,749 (GRCm39)	T501S	unknown	Het
Srsf12	T	C	4: 33,231,249 (GRCm39)	S253P	possibly damaging	Het
Sycp2l	A	G	13: 41,295,381 (GRCm39)	S315G	probably benign	Het
Tars2	T	C	3: 95,655,379 (GRCm39)	Y337C	probably damaging	Het
Thbs4	T	C	13: 92,898,022 (GRCm39)	D599G	probably benign	Het
Tmem200c	A	G	17: 69,149,181 (GRCm39)	H588R	probably benign	Het
Tmem255b	T	A	8: 13,506,005 (GRCm39)	V204E	probably damaging	Het
Usp24	T	A	4: 106,204,564 (GRCm39)	M261K	probably benign	Het
Utrn	T	A	10: 12,497,123 (GRCm39)	I2429F	probably benign	Het
Utrn	C	T	10: 12,539,189 (GRCm39)	A1943T	probably benign	Het
Vmn2r85	A	T	10: 130,261,694 (GRCm39)	D214E	probably damaging	Het
Wdr81	G	T	11: 75,340,213 (GRCm39)	P183T		Het
Zfp28	G	A	7: 6,395,623 (GRCm39)	R134H		Het
Zfp532	T	A	18: 65,756,308 (GRCm39)	D80E	possibly damaging	Het
Zfyve26	T	C	12: 79,334,418 (GRCm39)	D200G	probably benign	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
R2058:Gcc2	UTSW	10	58,121,779 (GRCm39)	missense	probably benign	0.10
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
X0018:Gcc2	UTSW	10	58,114,636 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GTAAGATAAAACTAGTTGCTGTGAAAG -3'
(R):5'- ATGCAACCAAAGACTAACCTTTTATGT -3'

Sequencing Primer
(F):5'- GATTCTAACAGGAAAGAGGTAAGGC -3'
(R):5'- GCCAAAACAACGGATTTTATG -3'

Posted On

2022-10-06