Incidental Mutation 'R8056:Rcc2'
ID619363
Institutional Source Beutler Lab
Gene Symbol Rcc2
Ensembl Gene ENSMUSG00000040945
Gene Nameregulator of chromosome condensation 2
SynonymsTd60, 2610529N02Rik, 2610510H01Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R8056 (G1)
Quality Score82.0076
Status Not validated
Chromosome4
Chromosomal Location140700541-140723220 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 140702275 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 40 (C40Y)
Ref Sequence ENSEMBL: ENSMUSP00000117448 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038893] [ENSMUST00000071169] [ENSMUST00000138808]
Predicted Effect probably benign
Transcript: ENSMUST00000038893
AA Change: C40Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000038144
Gene: ENSMUSG00000040945
AA Change: C40Y

DomainStartEndE-ValueType
low complexity region 19 39 N/A INTRINSIC
low complexity region 41 50 N/A INTRINSIC
low complexity region 65 87 N/A INTRINSIC
Pfam:RCC1_2 148 179 6.5e-8 PFAM
Pfam:RCC1 166 215 2.7e-18 PFAM
Pfam:RCC1_2 202 231 5.4e-10 PFAM
Pfam:RCC1 218 267 8.5e-14 PFAM
Pfam:RCC1 270 343 2.9e-13 PFAM
Pfam:RCC1_2 330 359 6.2e-9 PFAM
Pfam:RCC1 347 397 1.1e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000071169
AA Change: C40Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000071163
Gene: ENSMUSG00000040945
AA Change: C40Y

DomainStartEndE-ValueType
low complexity region 19 39 N/A INTRINSIC
low complexity region 41 50 N/A INTRINSIC
low complexity region 65 87 N/A INTRINSIC
Pfam:RCC1_2 148 179 6.1e-8 PFAM
Pfam:RCC1 166 215 4.1e-19 PFAM
Pfam:RCC1_2 202 231 5.1e-10 PFAM
Pfam:RCC1 218 267 1.6e-12 PFAM
Pfam:RCC1 270 343 7.5e-13 PFAM
Pfam:RCC1_2 330 359 1.3e-8 PFAM
Pfam:RCC1 347 397 2.7e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138808
AA Change: C40Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000117448
Gene: ENSMUSG00000040945
AA Change: C40Y

DomainStartEndE-ValueType
low complexity region 19 39 N/A INTRINSIC
low complexity region 41 50 N/A INTRINSIC
low complexity region 65 87 N/A INTRINSIC
low complexity region 144 155 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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 guanine exchange factor that is active on RalA, a small GTPase. The encoded protein and RalA are both essential for proper kinetochore-microtubule function in early mitosis. This protein has been shown to be a biomarker for colorectal cancer. [provided by RefSeq, Oct 2016]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1300017J02Rik A G 9: 103,266,224 C438R probably damaging Het
9930111J21Rik2 T C 11: 49,020,082 E508G probably benign Het
Acsl3 C T 1: 78,681,894 L88F probably damaging Het
Adamtsl1 C T 4: 86,342,032 P835S possibly damaging Het
Agrn A G 4: 156,170,411 V1616A probably benign Het
Brca2 T C 5: 150,569,306 V3262A possibly damaging Het
Bsn T C 9: 108,105,307 D977G Het
Cic G T 7: 25,290,941 A1956S possibly damaging Het
Clip4 C A 17: 71,803,592 T189K probably damaging Het
Col12a1 T C 9: 79,599,938 E279G Het
Col24a1 A C 3: 145,314,164 I99L possibly damaging Het
Cpne3 A G 4: 19,532,426 V329A possibly damaging Het
Cyp17a1 T C 19: 46,670,591 I204V possibly damaging Het
Cyp2c66 A G 19: 39,142,041 I107V probably benign Het
Dennd4c A G 4: 86,844,976 R1840G probably null Het
Dhx36 A T 3: 62,488,591 L465Q possibly damaging Het
Fam133b A T 5: 3,565,744 R215S unknown Het
Fbxo18 G A 2: 11,743,630 T985I probably benign Het
Fras1 A G 5: 96,744,774 D2911G probably damaging Het
Gm11639 A G 11: 104,909,070 T2931A probably damaging Het
Gm13889 A T 2: 93,956,675 D151E probably damaging Het
Gosr2 C A 11: 103,697,704 probably benign Het
Igkv8-26 T A 6: 70,193,722 L99H probably damaging Het
Kif16b A G 2: 142,712,842 F679L probably damaging Het
Kif3b G C 2: 153,330,059 R716S possibly damaging Het
Lilra6 A T 7: 3,912,552 C395S probably damaging Het
Lrp5 A G 19: 3,597,337 F1302L probably damaging Het
Map2 T G 1: 66,415,620 V1223G probably damaging Het
Mical1 T A 10: 41,481,172 N324K probably damaging Het
Morc3 T A 16: 93,845,176 H94Q probably benign Het
Mpped1 T C 15: 83,836,462 V199A possibly damaging Het
Msx1 G A 5: 37,824,200 T45I probably benign Het
Myh7 G A 14: 54,973,319 Q1714* probably null Het
Narf T C 11: 121,245,344 V182A possibly damaging Het
Ncapd2 G A 6: 125,171,043 T1107M probably damaging Het
Nek3 A G 8: 22,129,343 probably null Het
Neurog1 G T 13: 56,251,410 P175T probably damaging Het
Nlrp9c T C 7: 26,385,687 T156A probably damaging Het
Olfr1377 T A 11: 50,985,541 V280E probably damaging Het
Olfr434 A T 6: 43,217,044 I44F probably damaging Het
Olfr788 G A 10: 129,473,192 A167T probably benign Het
Orm3 A G 4: 63,359,357 E194G probably benign Het
Pik3r2 G T 8: 70,772,367 P151T probably benign Het
Pkp2 T C 16: 16,213,400 C10R probably benign Het
Plxdc1 T A 11: 97,978,517 R82W probably damaging Het
Polr2c G A 8: 94,860,267 A54T probably benign Het
Rab31 T C 17: 65,717,508 I59V probably benign Het
Rasgrf2 T C 13: 92,030,813 M251V probably damaging Het
Rhag T C 17: 40,828,788 I137T probably damaging Het
Rnf216 T C 5: 142,992,861 M841V probably benign Het
Scaf11 C A 15: 96,414,817 E1448* probably null Het
Sept11 T C 5: 93,167,576 L388P unknown Het
Skint10 A G 4: 112,715,813 I262T probably benign Het
Slc13a4 C T 6: 35,268,952 G586E probably damaging Het
Slc8a1 C T 17: 81,647,923 G562E probably damaging Het
Slc8b1 T A 5: 120,520,617 L126Q probably damaging Het
Smg1 A G 7: 118,160,366 Y2086H unknown Het
Taf1c A T 8: 119,603,463 D47E probably benign Het
Tbx5 A C 5: 119,853,613 M250L probably benign Het
Tekt3 T C 11: 63,083,959 probably null Het
Tex43 A G 18: 56,594,691 N79S Het
Topors T C 4: 40,262,221 I354M probably benign Het
Ttn C A 2: 76,948,230 G1309V unknown Het
Ubac1 A G 2: 26,007,897 I237T probably benign Het
Vmn1r197 T A 13: 22,328,218 V103D probably damaging Het
Zfp184 T C 13: 21,958,838 F238S probably damaging Het
Zfp445 A G 9: 122,851,967 F970L possibly damaging Het
Zfp90 A T 8: 106,424,480 E275V probably damaging Het
Zscan12 C G 13: 21,369,322 Q439E probably benign Het
Other mutations in Rcc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02040:Rcc2 APN 4 140720591 missense possibly damaging 0.85
IGL02486:Rcc2 APN 4 140710362 missense probably damaging 1.00
PIT4445001:Rcc2 UTSW 4 140721149 missense possibly damaging 0.84
R0637:Rcc2 UTSW 4 140717744 splice site probably benign
R1856:Rcc2 UTSW 4 140720604 missense probably benign 0.17
R2107:Rcc2 UTSW 4 140721185 missense probably damaging 1.00
R2152:Rcc2 UTSW 4 140717117 missense probably damaging 1.00
R4809:Rcc2 UTSW 4 140717042 missense probably damaging 1.00
R5004:Rcc2 UTSW 4 140717666 missense possibly damaging 0.86
R5229:Rcc2 UTSW 4 140717029 missense probably damaging 1.00
R5384:Rcc2 UTSW 4 140720566 nonsense probably null
R5767:Rcc2 UTSW 4 140715919 missense probably damaging 1.00
R5840:Rcc2 UTSW 4 140712138 missense possibly damaging 0.95
R5909:Rcc2 UTSW 4 140717068 missense probably damaging 1.00
R6056:Rcc2 UTSW 4 140717024 missense possibly damaging 0.73
R6698:Rcc2 UTSW 4 140702275 missense probably benign 0.00
R7086:Rcc2 UTSW 4 140707969 missense probably benign 0.20
R7252:Rcc2 UTSW 4 140702275 missense probably benign 0.00
R7393:Rcc2 UTSW 4 140717030 missense probably damaging 1.00
R8054:Rcc2 UTSW 4 140702275 missense probably benign 0.00
R8055:Rcc2 UTSW 4 140702275 missense probably benign 0.00
R8057:Rcc2 UTSW 4 140702275 missense probably benign 0.00
R8058:Rcc2 UTSW 4 140702275 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACGAAAGTTCCTCTTTTCGCG -3'
(R):5'- ACTGGCTCCCCGGAGTTC -3'

Sequencing Primer
(F):5'- CGTGCTCGCAGGTGCTTG -3'
(R):5'- TCCCCGGAGTTCCCCCG -3'
Posted On2020-01-23