Mutagenetix > Incidental Mutation

Incidental Mutation 'R7352:Gcc2'

570669

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

045438-MU

Accession Numbers

Essential gene?

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

Stock #

R7352 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58091319-58141421 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 58116520 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

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: 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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	C	T	17: 24,508,028 (GRCm39)	W1124*	probably null	Het
Acap3	G	A	4: 155,990,168 (GRCm39)	V783I	possibly damaging	Het
Alkbh8	A	G	9: 3,345,796 (GRCm39)	K172R	probably damaging	Het
Ankrd28	A	G	14: 31,429,998 (GRCm39)	L860P	probably damaging	Het
Arap3	G	A	18: 38,106,331 (GRCm39)	T1504I	probably benign	Het
Atad5	T	C	11: 79,994,169 (GRCm39)		probably null	Het
Atp8a2	A	G	14: 60,028,653 (GRCm39)	V938A	probably benign	Het
AW551984	T	C	9: 39,504,221 (GRCm39)	M582V	probably benign	Het
Axdnd1	C	T	1: 156,210,047 (GRCm39)	V408I	possibly damaging	Het
Babam2	T	A	5: 32,164,594 (GRCm39)	Y326*	probably null	Het
Baiap2l1	T	C	5: 144,261,436 (GRCm39)	M20V	probably benign	Het
Bex6	A	G	16: 32,005,034 (GRCm39)		probably benign	Het
Bicc1	G	T	10: 70,783,730 (GRCm39)	T469K	probably benign	Het
Cad	T	A	5: 31,215,422 (GRCm39)	S78T	probably damaging	Het
Ccdc171	T	A	4: 83,736,260 (GRCm39)	D1210E	possibly damaging	Het
Ccnd1	T	C	7: 144,491,124 (GRCm39)	I161V	possibly damaging	Het
Cdc42bpb	A	T	12: 111,265,745 (GRCm39)	F1396I	probably damaging	Het
Cep170	A	T	1: 176,597,423 (GRCm39)	D373E	probably benign	Het
Chrna4	A	T	2: 180,679,267 (GRCm39)	I60N	probably damaging	Het
Cntn2	T	C	1: 132,450,137 (GRCm39)	T586A	probably benign	Het
Csmd2	G	T	4: 128,451,429 (GRCm39)	V3396F		Het
Cyp3a44	T	A	5: 145,740,498 (GRCm39)	L47F	probably benign	Het
D7Ertd443e	A	T	7: 133,951,123 (GRCm39)	H183Q	probably benign	Het
Ddx27	T	C	2: 166,871,433 (GRCm39)	V510A	probably benign	Het
Dgat1	G	T	15: 76,387,024 (GRCm39)	C396*	probably null	Het
Dmpk	A	G	7: 18,819,997 (GRCm39)	S83G	probably damaging	Het
Dsc2	T	G	18: 20,168,392 (GRCm39)	D689A	probably benign	Het
Eppk1	A	T	15: 75,990,618 (GRCm39)	W2088R	probably benign	Het
Exph5	A	C	9: 53,287,022 (GRCm39)	I1368L	probably benign	Het
Fadd	T	C	7: 144,134,396 (GRCm39)	K163R	probably benign	Het
Fam149a	T	A	8: 45,794,034 (GRCm39)	Q759L	probably damaging	Het
Foxo6	A	T	4: 120,125,448 (GRCm39)	M449K	probably benign	Het
Gad1	T	C	2: 70,425,094 (GRCm39)	F463L	probably benign	Het
Gad2	T	A	2: 22,513,835 (GRCm39)	F91I	probably benign	Het
Gjd3	A	C	11: 102,691,278 (GRCm39)	C242G	probably damaging	Het
Gkn1	T	C	6: 87,325,100 (GRCm39)	E103G	possibly damaging	Het
Gm867	T	C	10: 75,775,670 (GRCm39)	T39A	probably benign	Het
Gpr108	A	G	17: 57,543,944 (GRCm39)	Y421H	probably damaging	Het
Gramd1b	A	C	9: 40,219,289 (GRCm39)	V508G	probably damaging	Het
Grm1	A	T	10: 10,595,237 (GRCm39)	I797N	probably damaging	Het
Ice1	G	A	13: 70,754,221 (GRCm39)	Q622*	probably null	Het
Kcnb2	T	A	1: 15,780,835 (GRCm39)	V569E	probably benign	Het
Ksr2	T	G	5: 117,827,706 (GRCm39)	I495S	probably benign	Het
Litaf	A	T	16: 10,781,217 (GRCm39)	M94K	probably damaging	Het
Lmod2	T	C	6: 24,598,110 (GRCm39)	S77P	possibly damaging	Het
Lrp2	G	T	2: 69,302,741 (GRCm39)	S2996Y	probably benign	Het
Ltf	T	C	9: 110,857,518 (GRCm39)	S436P	probably benign	Het
Map4k4	T	A	1: 40,001,387 (GRCm39)	V58D	unknown	Het
Mapkapk3	C	A	9: 107,134,269 (GRCm39)	D332Y	possibly damaging	Het
Mroh1	C	A	15: 76,335,674 (GRCm39)	P1439Q	probably benign	Het
Ncor1	A	G	11: 62,224,737 (GRCm39)	V841A	probably damaging	Het
Nrxn3	A	G	12: 88,817,063 (GRCm39)	M248V	probably benign	Het
Olig2	A	G	16: 91,023,577 (GRCm39)	D97G	probably benign	Het
Or4a2	C	A	2: 89,248,311 (GRCm39)	G149W	probably damaging	Het
Or4a39	T	C	2: 89,236,806 (GRCm39)	M206V	probably benign	Het
Or4p8	T	A	2: 88,727,062 (GRCm39)	N293I	probably damaging	Het
Or5b95	A	G	19: 12,658,115 (GRCm39)	I214M	possibly damaging	Het
Or5g23	T	C	2: 85,439,128 (GRCm39)	N42S	probably damaging	Het
Or6f2	A	T	7: 139,756,438 (GRCm39)	Y135F	probably damaging	Het
Pcdha11	T	A	18: 37,139,898 (GRCm39)	V509E	probably damaging	Het
Pglyrp3	G	A	3: 91,921,947 (GRCm39)	W5*	probably null	Het
Phf14	A	T	6: 11,961,637 (GRCm39)	N425Y	probably damaging	Het
Phf3	G	T	1: 30,843,407 (GRCm39)	R1851S	possibly damaging	Het
Pigs	A	G	11: 78,219,638 (GRCm39)	T39A	probably damaging	Het
Plin4	A	G	17: 56,411,427 (GRCm39)	M868T	probably benign	Het
Pnma2	A	G	14: 67,153,870 (GRCm39)	Q98R	possibly damaging	Het
Ppp4r3a	G	A	12: 101,008,091 (GRCm39)	T782I	probably damaging	Het
Pramel52-ps	A	T	5: 94,531,743 (GRCm39)	N209I	probably damaging	Het
Prickle2	T	G	6: 92,387,871 (GRCm39)	E566D	probably benign	Het
Pvr	A	G	7: 19,644,541 (GRCm39)	I331T	possibly damaging	Het
Ranbp3l	A	T	15: 8,997,842 (GRCm39)		probably benign	Het
Rapgef4	T	A	2: 72,010,435 (GRCm39)	I331N	probably damaging	Het
Reg3g	C	T	6: 78,443,842 (GRCm39)	W122*	probably null	Het
Rigi	T	A	4: 40,239,668 (GRCm39)	Q10L	probably benign	Het
Rlbp1	A	T	7: 79,031,428 (GRCm39)	I100N	probably damaging	Het
Rnf213	T	A	11: 119,334,405 (GRCm39)	Y3206N		Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,133 (GRCm39)		probably benign	Het
Rtl6	G	T	15: 84,441,181 (GRCm39)	R72S	possibly damaging	Het
Rufy3	T	A	5: 88,785,053 (GRCm39)	D408E	possibly damaging	Het
Scn3a	T	C	2: 65,356,045 (GRCm39)	I230V	possibly damaging	Het
Slc23a4	A	T	6: 34,925,214 (GRCm39)	I507N	possibly damaging	Het
Slc4a8	A	G	15: 100,688,865 (GRCm39)	T392A	probably damaging	Het
Spaca7	T	A	8: 12,635,742 (GRCm39)	I86K	probably benign	Het
Syt10	G	T	15: 89,698,659 (GRCm39)	D228E	probably benign	Het
Tbx3	T	A	5: 119,815,625 (GRCm39)	N308K	probably benign	Het
Telo2	A	G	17: 25,321,043 (GRCm39)	V724A	probably damaging	Het
Tfip11	T	C	5: 112,481,134 (GRCm39)	V370A	probably benign	Het
Thbs3	A	G	3: 89,132,587 (GRCm39)	E843G	probably benign	Het
Tmprss11g	T	C	5: 86,644,401 (GRCm39)	I148V	not run	Het
Trbv14	T	A	6: 41,112,429 (GRCm39)	D75E	possibly damaging	Het
Trio	A	G	15: 27,732,962 (GRCm39)	V2973A	probably damaging	Het
Ttn	T	C	2: 76,624,828 (GRCm39)	D15250G	probably damaging	Het
Ubr2	G	A	17: 47,241,352 (GRCm39)	T1734I	probably benign	Het
Ush2a	G	T	1: 188,198,321 (GRCm39)	A1462S	probably benign	Het
Ushbp1	T	G	8: 71,841,525 (GRCm39)	T435P	possibly damaging	Het
Vps13c	T	C	9: 67,747,728 (GRCm39)	V7A	possibly damaging	Het
Wnk4	T	C	11: 101,155,244 (GRCm39)	V385A	probably damaging	Het
Wnt2b	C	T	3: 104,854,493 (GRCm39)	V322I	probably benign	Het
Zbtb8a	C	T	4: 129,253,874 (GRCm39)	V207M	probably benign	Het
Zc3hav1l	A	G	6: 38,275,916 (GRCm39)	M87T	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
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'- TTCCAAAGTCTTATTATTTGTGTACGG -3'
(R):5'- AGTTTTAATTTGATGAGGCTAACACT -3'

Sequencing Primer
(F):5'- AGTCTTATTATTTGTGTACGGTATGC -3'
(R):5'- TTGATGAGGCTAACACTTTATAAAGG -3'

Posted On

2019-09-13