Mutagenetix > Incidental Mutation

Incidental Mutation 'R9370:Gcc2'

709273

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

068964-MU

Accession Numbers

Essential gene?

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

Stock #

R9370 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58091319-58141421 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58131940 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1550 (N1550S)

Ref Sequence

ENSEMBL: ENSMUSP00000054033 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000057659
AA Change: N1550S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000054033
Gene: ENSMUSG00000038039
AA Change: N1550S

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: ENSMUST00000162041
AA Change: N1514S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000124787
Gene: ENSMUSG00000038039
AA Change: N1514S

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: N1446S

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

SMART Domains

Protein: ENSMUSP00000124152
Gene: ENSMUSG00000038039
AA Change: N1446S

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: 100.0%
10x: 99.8%
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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1d1	T	A	6: 37,544,099 (GRCm39)	*326R	probably null	Het
Cntn5	T	A	9: 9,833,520 (GRCm39)	I344F	probably benign	Het
Cyp2t4	G	A	7: 26,854,717 (GRCm39)	V66M	possibly damaging	Het
Eln	C	T	5: 134,741,476 (GRCm39)	V563I	unknown	Het
Epb41l5	T	C	1: 119,561,312 (GRCm39)	Y83C	probably damaging	Het
Epha8	T	C	4: 136,673,511 (GRCm39)	D91G	possibly damaging	Het
Fscn3	T	C	6: 28,434,535 (GRCm39)	V370A	probably benign	Het
Gck	T	C	11: 5,852,244 (GRCm39)	D365G	possibly damaging	Het
Hhatl	C	T	9: 121,617,836 (GRCm39)	G251E	possibly damaging	Het
Hspa12a	A	G	19: 58,813,708 (GRCm39)	F139S	probably damaging	Het
Ikzf2	T	C	1: 69,578,018 (GRCm39)	D497G	probably damaging	Het
Ino80	A	G	2: 119,232,848 (GRCm39)	S1157P	probably damaging	Het
Jmjd6	A	G	11: 116,729,952 (GRCm39)	I315T	probably benign	Het
Jup	C	T	11: 100,270,391 (GRCm39)	C372Y	probably damaging	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Lyst	C	T	13: 13,935,333 (GRCm39)	H3601Y	probably damaging	Het
Mars2	T	C	1: 55,276,624 (GRCm39)	S76P	probably benign	Het
Mtmr10	A	G	7: 63,969,249 (GRCm39)	E337G	probably benign	Het
Myo5b	A	G	18: 74,760,246 (GRCm39)	D254G	possibly damaging	Het
Nell1	A	T	7: 49,770,292 (GRCm39)	E117V	probably damaging	Het
Pcdhgb7	T	C	18: 37,884,937 (GRCm39)	S36P	possibly damaging	Het
Rps6kc1	A	C	1: 190,531,222 (GRCm39)	L927V	probably damaging	Het
Sacs	T	A	14: 61,441,080 (GRCm39)	I1042N	probably damaging	Het
Skint2	A	G	4: 112,481,259 (GRCm39)	N41D	possibly damaging	Het
Slc5a11	A	G	7: 122,834,855 (GRCm39)	T5A	probably benign	Het
Tbc1d22a	C	T	15: 86,123,441 (GRCm39)	T194I	probably benign	Het
Tmem234	T	A	4: 129,500,922 (GRCm39)	V93D	probably damaging	Het
Trim43b	T	C	9: 88,971,559 (GRCm39)	E199G	probably benign	Het
Ttc24	A	T	3: 87,980,136 (GRCm39)	V148E	probably benign	Het
Utp15	A	G	13: 98,387,119 (GRCm39)	F434L	probably damaging	Het
Vmn2r81	A	G	10: 79,104,424 (GRCm39)	Y349C	probably damaging	Het
Xpo5	T	A	17: 46,546,844 (GRCm39)	V865E	probably damaging	Het
Zfhx3	C	T	8: 109,521,340 (GRCm39)	R821C	probably damaging	Het
Zfp90	A	G	8: 107,145,791 (GRCm39)	D41G	probably damaging	Het
Zzef1	T	A	11: 72,744,148 (GRCm39)	C835S	probably damaging	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
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'- CTGCAGCAGAAATTCAGTCTTACTG -3'
(R):5'- AGCTTGTAAATGCGGCACAC -3'

Sequencing Primer
(F):5'- CAGAAATTCAGTCTTACTGGTGCTGC -3'
(R):5'- TTGTAAATGCGGCACACATACAC -3'

Posted On

2022-04-18