Incidental Mutation 'R9433:Gcc2'
ID 713112
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 # R9433 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 58091319-58141421 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 58106592 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 609 (H609Q)
Ref Sequence ENSEMBL: ENSMUSP00000054033 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057659] [ENSMUST00000160416] [ENSMUST00000160427] [ENSMUST00000162041] [ENSMUST00000162860] [ENSMUST00000162984]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000057659
AA Change: H609Q

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000054033
Gene: ENSMUSG00000038039
AA Change: H609Q

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
coiled coil region 37 176 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160427
SMART Domains Protein: ENSMUSP00000124411
Gene: ENSMUSG00000038039

DomainStartEndE-ValueType
coiled coil region 32 94 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162041
AA Change: H573Q

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000124787
Gene: ENSMUSG00000038039
AA Change: H573Q

DomainStartEndE-ValueType
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: H509Q

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000124152
Gene: ENSMUSG00000038039
AA Change: H509Q

DomainStartEndE-ValueType
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
Predicted Effect probably benign
Transcript: ENSMUST00000162984
SMART Domains Protein: ENSMUSP00000124988
Gene: ENSMUSG00000038039

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam4 T C 12: 81,466,723 (GRCm39) T633A possibly damaging Het
Adgrv1 A T 13: 81,714,471 (GRCm39) F937L probably benign Het
Adipor2 A T 6: 119,336,486 (GRCm39) F159Y probably damaging Het
Ahcyl1 A G 3: 107,575,645 (GRCm39) V380A probably damaging Het
Akp3 A G 1: 87,053,517 (GRCm39) K157E probably benign Het
Arpc1a T A 5: 145,045,203 (GRCm39) I364N possibly damaging Het
Bach1 C G 16: 87,516,603 (GRCm39) S381R probably benign Het
Brms1l G A 12: 55,912,863 (GRCm39) probably null Het
Camk1d A G 2: 5,680,777 (GRCm39) S6P unknown Het
Ccdc112 C A 18: 46,424,040 (GRCm39) V233L probably benign Het
Ccdc113 A T 8: 96,272,613 (GRCm39) N240I possibly damaging Het
Ccdc168 A T 1: 44,095,668 (GRCm39) V1810E possibly damaging Het
Ccdc6 T C 10: 70,004,951 (GRCm39) V232A possibly damaging Het
Cct5 A G 15: 31,592,883 (GRCm39) I409T possibly damaging Het
Cd96 A G 16: 45,856,298 (GRCm39) Y583H probably damaging Het
Cdh22 C T 2: 164,954,329 (GRCm39) V731M probably benign Het
Clcn1 C T 6: 42,282,494 (GRCm39) P521S probably damaging Het
Clec18a C T 8: 111,808,322 (GRCm39) A27T probably benign Het
Cnnm2 C T 19: 46,750,807 (GRCm39) A199V probably benign Het
Copg1 G A 6: 87,880,478 (GRCm39) A494T possibly damaging Het
Cpsf2 A G 12: 101,948,252 (GRCm39) E16G probably damaging Het
Cyp2j5 T A 4: 96,552,244 (GRCm39) I2F probably benign Het
Dgkg T A 16: 22,384,065 (GRCm39) N463Y probably damaging Het
Dnah11 T C 12: 117,976,007 (GRCm39) D2804G probably damaging Het
Efcab12 T C 6: 115,792,995 (GRCm39) N488D probably benign Het
Etv5 G A 16: 22,254,668 (GRCm39) P64L probably damaging Het
Fbrs A G 7: 127,084,272 (GRCm39) E468G probably benign Het
Fcho1 A T 8: 72,169,468 (GRCm39) M146K probably benign Het
Gad1 A T 2: 70,423,807 (GRCm39) M405L Het
Gm11983 A T 11: 6,786,902 (GRCm39) M75K unknown Het
Gm4353 T A 7: 115,682,871 (GRCm39) I237F probably damaging Het
H1f0 C T 15: 78,912,947 (GRCm39) P9L probably damaging Het
Hcn4 A G 9: 58,731,222 (GRCm39) D143G unknown Het
Id1 T A 2: 152,578,430 (GRCm39) V57D probably damaging Het
Ifna13 T C 4: 88,562,540 (GRCm39) Q28R probably benign Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Lonrf2 G A 1: 38,875,538 (GRCm39) probably benign Het
Magi3 C T 3: 103,922,473 (GRCm39) A1415T probably benign Het
Mia2 A G 12: 59,148,371 (GRCm39) E77G probably damaging Het
Muc16 T A 9: 18,483,937 (GRCm39) Q6945L probably benign Het
Nos2 G A 11: 78,850,490 (GRCm39) R1116H probably damaging Het
Or2w4 C T 13: 21,795,224 (GRCm39) C305Y probably benign Het
Parpbp A C 10: 87,975,858 (GRCm39) V85G probably benign Het
Pcmtd2 C T 2: 181,496,837 (GRCm39) H273Y possibly damaging Het
Pcp4l1 C T 1: 171,001,998 (GRCm39) G54D probably damaging Het
Pkdrej T C 15: 85,704,070 (GRCm39) H622R probably benign Het
Plxnd1 G T 6: 115,945,754 (GRCm39) D906E probably benign Het
Pnpla8 T C 12: 44,330,305 (GRCm39) S286P probably damaging Het
Prss36 C T 7: 127,533,339 (GRCm39) V631I probably benign Het
Ptpn9 A T 9: 56,964,010 (GRCm39) N381I possibly damaging Het
Ranbp9 A T 13: 43,576,041 (GRCm39) I222N probably damaging Het
Rev1 T C 1: 38,092,173 (GRCm39) T1249A probably damaging Het
Ripply2 G T 9: 86,901,715 (GRCm39) W80C probably damaging Het
Rnaseh2b C A 14: 62,602,722 (GRCm39) P235Q probably benign Het
Sacs T A 14: 61,443,997 (GRCm39) F2014L probably damaging Het
Serpinb9f A G 13: 33,518,238 (GRCm39) N246S probably benign Het
Sh3pxd2a A T 19: 47,255,539 (GRCm39) S1088T probably damaging Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Skint3 A G 4: 112,137,432 (GRCm39) I367V probably benign Het
Slc20a2 G T 8: 23,051,211 (GRCm39) E415* probably null Het
Slc5a1 T A 5: 33,310,025 (GRCm39) S418T probably benign Het
Spats2 G T 15: 99,076,446 (GRCm39) G175* probably null Het
Srebf1 A T 11: 60,095,015 (GRCm39) F485L possibly damaging Het
St8sia4 A G 1: 95,555,364 (GRCm39) V222A Het
Stab1 C T 14: 30,865,531 (GRCm39) E1786K probably benign Het
Stat2 A G 10: 128,112,657 (GRCm39) M58V probably benign Het
Stat5a A G 11: 100,765,870 (GRCm39) T319A probably benign Het
Sufu A G 19: 46,385,532 (GRCm39) probably benign Het
Tle6 T A 10: 81,426,880 (GRCm39) I579F probably damaging Het
Tmem131l A T 3: 83,845,459 (GRCm39) D390E probably benign Het
Trim33 T A 3: 103,228,979 (GRCm39) probably null Het
Usp54 A G 14: 20,611,678 (GRCm39) V1046A probably benign Het
Vit G A 17: 78,932,413 (GRCm39) G507R probably damaging Het
Vmn2r59 A G 7: 41,695,590 (GRCm39) I274T probably damaging Het
Vmn2r67 T A 7: 84,804,917 (GRCm39) K65M possibly damaging Het
Vmn2r86 C T 10: 130,282,567 (GRCm39) G683E possibly damaging Het
Vwa8 T C 14: 79,335,871 (GRCm39) probably null Het
Zdhhc14 A G 17: 5,781,779 (GRCm39) D333G probably benign Het
Zup1 G A 10: 33,795,355 (GRCm39) S568L probably damaging Het
Other mutations in Gcc2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- ACTGTGAATCGCCTCCAAG -3'
(R):5'- CCGTCATAGTTTTCATTTGAACCG -3'

Sequencing Primer
(F):5'- TCGCCTCCAAGGAGAAAATG -3'
(R):5'- CATTTGAACCGTAATGCTTTGGTC -3'
Posted On 2022-05-16