Mutagenetix > Incidental Mutation

Incidental Mutation 'R5767:Rcc2'

446321

Institutional Source

Beutler Lab

Gene Symbol

Rcc2

Ensembl Gene

ENSMUSG00000040945

Gene Name

regulator of chromosome condensation 2

Synonyms

Td60, 2610529N02Rik, 2610510H01Rik

MMRRC Submission

043367-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5767 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140700541-140723220 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 140715919 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 303 (C303S)

Ref Sequence

ENSEMBL: ENSMUSP00000071163 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038893] [ENSMUST00000071169]

AlphaFold

Q8BK67

Predicted Effect

probably damaging
Transcript: ENSMUST00000038893
AA Change: C303S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000038144
Gene: ENSMUSG00000040945
AA Change: C303S

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000071169
AA Change: C303S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000071163
Gene: ENSMUSG00000040945
AA Change: C303S

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000129838

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138682

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175330

Meta Mutation Damage Score

0.2469

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

98% (52/53)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr6	A	T	10: 89,726,755	D87E	probably damaging	Het
AI429214	TCCCTGATGAAC	TC	8: 36,994,229		probably null	Het
Ano3	A	T	2: 110,661,271	Y887N	probably damaging	Het
Arid4a	A	G	12: 71,060,093	D313G	probably damaging	Het
Armc2	A	G	10: 42,011,927	V20A	probably benign	Het
C2	T	A	17: 34,876,456	N171I	possibly damaging	Het
Cdh1	C	A	8: 106,668,555	N865K	probably damaging	Het
Cep89	T	A	7: 35,417,645	V224E	probably damaging	Het
Dennd2d	C	T	3: 106,487,815		probably benign	Het
Diaph1	T	A	18: 37,853,355	K1157N	probably damaging	Het
Dsg4	T	A	18: 20,462,492	L584*	probably null	Het
Exoc4	G	A	6: 33,918,432	A795T	probably benign	Het
Fbln5	A	T	12: 101,765,209	I242N	probably damaging	Het
Gls2	A	G	10: 128,205,221	H394R	probably damaging	Het
Gm27013	C	T	6: 130,675,958	C847Y	possibly damaging	Het
Ifna5	C	A	4: 88,835,799	T92K	possibly damaging	Het
Ireb2	A	G	9: 54,900,516	M674V	probably benign	Het
Itga2	C	T	13: 114,839,570	V1089M	possibly damaging	Het
Kctd16	A	T	18: 40,258,869	Y170F	probably benign	Het
Kif15	A	G	9: 123,013,974	N45D	possibly damaging	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Mink1	A	G	11: 70,606,075	K420E	possibly damaging	Het
Ms4a14	G	T	19: 11,302,027	Q1056K	probably benign	Het
Olfr1053	T	A	2: 86,314,398	E296V	probably damaging	Het
Olfr175-ps1	T	C	16: 58,823,953	Y252C	probably benign	Het
Olfr738	T	C	14: 50,413,778	V78A	possibly damaging	Het
Ovch2	T	C	7: 107,781,978	E571G	probably benign	Het
Pmel	T	C	10: 128,714,381	V95A	probably damaging	Het
Ptger2	G	T	14: 44,989,142	G60C	probably benign	Het
Ranbp2	T	G	10: 58,476,825	S1122R	probably benign	Het
Rasal2	T	C	1: 157,176,162	D309G	probably damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Serpini1	C	T	3: 75,613,081		probably benign	Het
Sgo2a	G	T	1: 58,019,660	E1133*	probably null	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Smarcc1	G	A	9: 110,132,183		probably benign	Het
Tbcd	A	G	11: 121,592,692	E749G	probably benign	Het
Tmc3	G	A	7: 83,599,982	A260T	probably benign	Het
Tnfrsf21	A	G	17: 43,037,659	Y54C	probably damaging	Het
Uhrf1bp1l	A	G	10: 89,787,199	D312G	possibly damaging	Het
Urb1	T	A	16: 90,776,163	M994L	probably benign	Het
Usp14	A	T	18: 10,009,935		probably benign	Het
Vps13a	T	C	19: 16,664,564	Y2233C	probably damaging	Het
Wdr66	G	A	5: 123,298,521	V1038I	probably benign	Het
Wnt2	G	T	6: 17,990,028	A290E	probably damaging	Het
Zc3h8	A	T	2: 128,930,892	C225*	probably null	Het

Other mutations in Rcc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R8056: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
R8501:Rcc2	UTSW	4	140715926	missense	probably damaging	0.97
R9200:Rcc2	UTSW	4	140718353	missense	probably benign	0.00
R9337:Rcc2	UTSW	4	140718378	missense	probably damaging	1.00
R9380:Rcc2	UTSW	4	140702391	missense	probably benign	0.07
R9767:Rcc2	UTSW	4	140708020	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGGTGTTAGGTACCAGCTTG -3'
(R):5'- GTCTGCAAGTTGTCTGCAGAGG -3'

Sequencing Primer
(F):5'- CTTGTGAGCAACTGGGCAGAC -3'
(R):5'- TCAGCCAAATGACATAGCTTGAG -3'

Posted On

2016-11-21