Mutagenetix > Incidental Mutation

Incidental Mutation 'R7980:Gcc2'

656424

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

046021-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.187) question?

Stock #

R7980 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58091319-58141421 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 58114574 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 null
Transcript: ENSMUST00000057659

SMART Domains

Protein: ENSMUSP00000054033
Gene: ENSMUSG00000038039

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 null
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 null
Transcript: ENSMUST00000162041

SMART Domains

Protein: ENSMUSP00000124787
Gene: ENSMUSG00000038039

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 null
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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (87/87)

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
4930553M12Rik	A	G	4: 88,786,315 (GRCm39)	L101P	unknown	Het
Actn3	G	A	19: 4,917,950 (GRCm39)	P339L	probably damaging	Het
Adamts12	G	A	15: 11,263,423 (GRCm39)	C595Y	probably damaging	Het
Adrm1b	T	A	3: 92,336,406 (GRCm39)	K99*	probably null	Het
Agl	A	T	3: 116,585,830 (GRCm39)	N99K	probably benign	Het
Aplp1	A	T	7: 30,134,992 (GRCm39)	M592K	probably benign	Het
Arhgef11	C	T	3: 87,605,297 (GRCm39)	R251C	probably benign	Het
Arhgef12	A	T	9: 42,882,595 (GRCm39)	C1416*	probably null	Het
Asah1	A	G	8: 41,807,067 (GRCm39)	M119T		Het
Asxl2	A	T	12: 3,546,630 (GRCm39)	Q471H	probably damaging	Het
Atp6v1c2	A	T	12: 17,371,613 (GRCm39)	D61E	probably damaging	Het
Btbd16	C	A	7: 130,426,097 (GRCm39)	P520Q	probably damaging	Het
Cacnb2	A	G	2: 14,609,326 (GRCm39)	E22G	probably benign	Het
Catspere2	G	T	1: 177,830,610 (GRCm39)		probably null	Het
Cdc25a	T	A	9: 109,708,949 (GRCm39)	D124E	probably damaging	Het
Cdc42se1	A	T	3: 95,139,166 (GRCm39)		probably benign	Het
Cdcp3	T	A	7: 130,836,506 (GRCm39)	V400E	probably damaging	Het
Cfap54	T	C	10: 92,817,922 (GRCm39)	K1265E	possibly damaging	Het
Chaf1b	A	G	16: 93,681,415 (GRCm39)	H11R	probably damaging	Het
Chil4	T	C	3: 106,110,060 (GRCm39)	K345E	probably damaging	Het
Cntnap1	A	G	11: 101,079,719 (GRCm39)	I1283V	probably benign	Het
Dagla	C	T	19: 10,229,406 (GRCm39)	C618Y	possibly damaging	Het
Ddx19b	C	T	8: 111,738,077 (GRCm39)	V224M	possibly damaging	Het
Dohh	C	T	10: 81,223,726 (GRCm39)	R260*	probably null	Het
Dsg3	A	T	18: 20,664,417 (GRCm39)	N472Y	probably benign	Het
Duox1	T	A	2: 122,177,801 (GRCm39)	N1528K	possibly damaging	Het
Eml6	A	G	11: 29,783,205 (GRCm39)	Y559H	probably damaging	Het
Esp4	A	G	17: 40,913,192 (GRCm39)	T20A	possibly damaging	Het
Fbxw21	T	C	9: 108,985,639 (GRCm39)		probably null	Het
Grin3b	C	T	10: 79,811,559 (GRCm39)	A715V	possibly damaging	Het
Gxylt2	A	T	6: 100,764,170 (GRCm39)		probably null	Het
Hspa4	A	T	11: 53,171,404 (GRCm39)	S267T	probably benign	Het
Hspd1	A	G	1: 55,117,785 (GRCm39)	V491A	possibly damaging	Het
Idua	A	G	5: 108,828,486 (GRCm39)	E280G	probably benign	Het
Ift172	T	A	5: 31,417,988 (GRCm39)	E1267V	probably benign	Het
Itsn1	T	A	16: 91,702,182 (GRCm39)	V1448E	unknown	Het
Kat6a	A	G	8: 23,416,432 (GRCm39)	M647V	possibly damaging	Het
Kcnq4	A	T	4: 120,568,494 (GRCm39)	D407E	probably benign	Het
Kif1b	A	T	4: 149,354,378 (GRCm39)	F221I	probably damaging	Het
Lama2	G	T	10: 27,239,609 (GRCm39)	D315E	probably damaging	Het
Lrrn4	G	A	2: 132,720,096 (GRCm39)	L235F	probably damaging	Het
Map2k6	T	A	11: 110,390,210 (GRCm39)	I248N		Het
Mgat5	A	G	1: 127,407,248 (GRCm39)	Q638R	probably benign	Het
Mia2	A	G	12: 59,155,651 (GRCm39)	K455E	probably damaging	Het
Mrs2	A	G	13: 25,204,221 (GRCm39)	C3R	possibly damaging	Het
Nprl3	A	G	11: 32,187,357 (GRCm39)	I325T	probably damaging	Het
Nr1h3	T	A	2: 91,021,229 (GRCm39)	Q186L	probably benign	Het
Oas1f	A	G	5: 120,989,538 (GRCm39)	E159G	probably benign	Het
Or2g7	A	T	17: 38,378,412 (GRCm39)	M117L	possibly damaging	Het
Or4k15b	T	A	14: 50,272,252 (GRCm39)	S203C	probably damaging	Het
Or52ae7	T	A	7: 103,119,504 (GRCm39)	F86Y	probably damaging	Het
Or52e19b	T	A	7: 103,032,970 (GRCm39)	I80F	probably damaging	Het
Or52s1b	T	A	7: 102,822,242 (GRCm39)	S201C	probably damaging	Het
Or5m12	A	G	2: 85,734,942 (GRCm39)	F152S	probably benign	Het
Or8g4	T	C	9: 39,662,417 (GRCm39)	I245T	probably damaging	Het
Or9a4	T	A	6: 40,549,154 (GRCm39)	I278N	probably benign	Het
Pbxip1	G	C	3: 89,353,648 (GRCm39)	S267T	probably benign	Het
Pcdhga10	A	T	18: 37,881,645 (GRCm39)	I469F	possibly damaging	Het
Pkd1l1	A	G	11: 8,804,375 (GRCm39)	S1739P	probably damaging	Het
Plcd4	A	C	1: 74,604,464 (GRCm39)	N788T	probably benign	Het
Pms2	T	A	5: 143,867,909 (GRCm39)	W838R	probably damaging	Het
Pnpla6	T	A	8: 3,586,562 (GRCm39)	V926D	probably damaging	Het
Pros1	A	T	16: 62,748,516 (GRCm39)	H663L	possibly damaging	Het
Prss55	T	C	14: 64,316,138 (GRCm39)		probably null	Het
Pum2	T	C	12: 8,763,904 (GRCm39)	Y283H	probably damaging	Het
Rad21	A	G	15: 51,828,422 (GRCm39)	S549P	probably benign	Het
Sap130	T	A	18: 31,781,182 (GRCm39)		probably null	Het
Sertad4	C	T	1: 192,529,189 (GRCm39)	S209N	probably benign	Het
Sez6	A	G	11: 77,844,668 (GRCm39)	T164A	probably benign	Het
Slc22a28	C	T	19: 8,078,837 (GRCm39)	R284Q	probably damaging	Het
Slco4c1	T	C	1: 96,764,650 (GRCm39)	K474R	probably benign	Het
Stx5a	T	C	19: 8,719,802 (GRCm39)	S56P	probably damaging	Het
Svopl	T	C	6: 37,991,744 (GRCm39)	T379A	probably damaging	Het
Sypl2	A	G	3: 108,125,008 (GRCm39)	F118L	probably damaging	Het
Tfrc	G	A	16: 32,435,967 (GRCm39)	V215M	probably benign	Het
Thnsl2	T	C	6: 71,115,652 (GRCm39)	N185S	probably damaging	Het
Tmem104	T	C	11: 115,134,580 (GRCm39)	I372T	probably damaging	Het
Tnfaip6	G	A	2: 51,941,070 (GRCm39)	G204S	probably damaging	Het
Trim12a	C	T	7: 103,953,335 (GRCm39)	E259K	probably benign	Het
Tubgcp6	G	A	15: 88,986,232 (GRCm39)	R1436C	probably benign	Het
Tyrp1	C	T	4: 80,758,864 (GRCm39)	L246F	probably damaging	Het
Ubr4	G	T	4: 139,145,717 (GRCm39)	V216F		Het
Unc5a	A	G	13: 55,147,319 (GRCm39)	I409V	possibly damaging	Het
Vmn1r15	T	C	6: 57,235,399 (GRCm39)	L89P	probably damaging	Het
Vmn1r32	A	T	6: 66,530,305 (GRCm39)	L157*	probably null	Het
Zcchc24	A	G	14: 25,720,185 (GRCm39)	Y160H	probably damaging	Het
Zfp184	A	T	13: 22,144,376 (GRCm39)	H694L	probably damaging	Het
Zfp345	A	C	2: 150,314,723 (GRCm39)	Y271*	probably null	Het
Zranb3	T	C	1: 128,030,671 (GRCm39)		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
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'- CCAAGTGTCTGGTACTTTCTAGGAG -3'
(R):5'- TGTAAGGAAACTGGTCTCTGGG -3'

Sequencing Primer
(F):5'- GTCTGGTACTTTCTAGGAGATTCTC -3'
(R):5'- AAACTGGTCTCTGGGTTGTTCTTAC -3'

Posted On

2020-11-11