Mutagenetix > Incidental Mutation

Incidental Mutation 'R5840:Rcc2'

450366

Institutional Source

Beutler Lab

Gene Symbol

Rcc2

Ensembl Gene

ENSMUSG00000040945

Gene Name

regulator of chromosome condensation 2

Synonyms

2610529N02Rik, 2610510H01Rik, Td60

MMRRC Submission

044060-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5840 (G1)

Quality Score

103

Status

Validated

Chromosome

Chromosomal Location

140427852-140450531 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 140439449 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 175 (N175K)

Ref Sequence

ENSEMBL: ENSMUSP00000071163 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038893] [ENSMUST00000071169] [ENSMUST00000138808]

AlphaFold

Q8BK67

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038893
AA Change: N175K

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000038144
Gene: ENSMUSG00000040945
AA Change: N175K

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

possibly damaging
Transcript: ENSMUST00000071169
AA Change: N175K

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000071163
Gene: ENSMUSG00000040945
AA Change: N175K

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

probably benign
Transcript: ENSMUST00000138808

SMART Domains

Protein: ENSMUSP00000117448
Gene: ENSMUSG00000040945

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
low complexity region	144	155	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175330

Meta Mutation Damage Score

0.9222

Coding Region Coverage

1x: 99.8%
3x: 99.3%
10x: 96.5%
20x: 88.1%

Validation Efficiency

99% (75/76)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	G	A	2: 25,323,371 (GRCm39)	R113Q	probably benign	Het
Aip	G	A	19: 4,166,010 (GRCm39)	P147L	possibly damaging	Het
Anapc1	A	C	2: 128,448,957 (GRCm39)		probably benign	Het
Arhgap42	C	T	9: 9,046,518 (GRCm39)	V240I	possibly damaging	Het
Axdnd1	T	C	1: 156,176,528 (GRCm39)	E684G	probably damaging	Het
BC005624	G	A	2: 30,871,869 (GRCm39)	R2W	probably benign	Het
Cd177	T	G	7: 24,457,495 (GRCm39)	Q182P	probably damaging	Het
Cdca5	G	A	19: 6,140,399 (GRCm39)	E187K	possibly damaging	Het
Chmp1a	T	C	8: 123,934,839 (GRCm39)	Q39R	probably benign	Het
Dab2ip	A	G	2: 35,617,511 (GRCm39)	I1079V	probably damaging	Het
Dip2c	A	T	13: 9,556,712 (GRCm39)	E85D	possibly damaging	Het
Elmo2	A	T	2: 165,137,472 (GRCm39)	S497R	possibly damaging	Het
Ephb6	C	T	6: 41,592,507 (GRCm39)	A339V	possibly damaging	Het
Foxred1	T	C	9: 35,121,435 (GRCm39)	K38E	probably damaging	Het
Frem2	T	A	3: 53,555,342 (GRCm39)	T1732S	probably damaging	Het
Fto	A	G	8: 92,393,068 (GRCm39)		probably benign	Het
Gm17430	T	A	18: 9,726,528 (GRCm39)	Q48L	probably damaging	Het
Gng2	A	G	14: 19,925,882 (GRCm39)	I70T	probably damaging	Het
Gtf2a2	A	G	9: 69,922,575 (GRCm39)		probably benign	Het
Invs	A	G	4: 48,396,284 (GRCm39)	D263G	probably damaging	Het
Itga2b	C	T	11: 102,352,157 (GRCm39)	V475M	probably damaging	Het
Kansl1l	A	G	1: 66,809,374 (GRCm39)		probably benign	Het
Klhl25	T	C	7: 75,516,440 (GRCm39)	F449L	possibly damaging	Het
Lamb1	T	A	12: 31,316,755 (GRCm39)	C83S	probably damaging	Het
Loxl4	G	T	19: 42,587,154 (GRCm39)	T648K	probably damaging	Het
Lrit2	T	C	14: 36,790,962 (GRCm39)	F214L	possibly damaging	Het
N4bp2	T	G	5: 65,965,437 (GRCm39)	L1162R	probably damaging	Het
Naa40	A	T	19: 7,207,373 (GRCm39)	I117N	probably benign	Het
Ncapd3	T	C	9: 27,006,054 (GRCm39)	S1492P	probably benign	Het
Nf2	T	A	11: 4,766,146 (GRCm39)	D128V	probably benign	Het
Nox4	T	C	7: 87,010,001 (GRCm39)	S401P	probably benign	Het
Nt5c1b	T	C	12: 10,427,171 (GRCm39)	V323A	probably damaging	Het
Or52a33	C	T	7: 103,288,463 (GRCm39)	V295I	probably benign	Het
Or52s19	T	A	7: 103,007,576 (GRCm39)	H275L	probably damaging	Het
Or5b118	G	A	19: 13,449,242 (GRCm39)	V303I	probably benign	Het
Pcdhb14	T	C	18: 37,581,803 (GRCm39)	V303A	probably benign	Het
Pde8a	C	A	7: 80,863,713 (GRCm39)	H17Q	probably benign	Het
Pfkl	C	T	10: 77,824,558 (GRCm39)	V716I	probably benign	Het
Phc3	G	A	3: 30,990,732 (GRCm39)	S495L	possibly damaging	Het
Psg18	A	G	7: 18,080,527 (GRCm39)		probably benign	Het
Rhot2	G	A	17: 26,059,032 (GRCm39)	T276I	probably benign	Het
Rnase9	A	T	14: 51,276,445 (GRCm39)	Y178N	probably benign	Het
Sema4b	T	C	7: 79,868,697 (GRCm39)	C297R	probably damaging	Het
Slc35d2	T	C	13: 64,266,227 (GRCm39)		probably null	Het
Sptlc3	A	T	2: 139,389,126 (GRCm39)	N169Y	probably damaging	Het
Srsf9	T	G	5: 115,469,524 (GRCm39)	M29R	probably benign	Het
Stip1	C	A	19: 6,999,436 (GRCm39)	D449Y	possibly damaging	Het
Syne2	T	A	12: 75,927,065 (GRCm39)		probably null	Het
Tgm5	A	G	2: 120,916,141 (GRCm39)		probably null	Het
Thbs2	A	T	17: 14,901,692 (GRCm39)		probably null	Het
Trak2	T	C	1: 58,958,432 (GRCm39)	E283G	probably damaging	Het
Trbv21	A	G	6: 41,179,792 (GRCm39)	Y36C	probably damaging	Het
Trpm7	A	T	2: 126,664,531 (GRCm39)	Y949*	probably null	Het
Ubqln5	T	C	7: 103,778,161 (GRCm39)	D221G	possibly damaging	Het
Ubxn4	T	A	1: 128,187,262 (GRCm39)	V85D	possibly damaging	Het
Vmn1r172	T	A	7: 23,359,600 (GRCm39)	W162R	probably benign	Het
Vrk2	A	G	11: 26,484,314 (GRCm39)		probably benign	Het
Zc3h8	A	C	2: 128,771,824 (GRCm39)	D276E	probably benign	Het
Zfp369	C	T	13: 65,445,092 (GRCm39)	T745I	possibly damaging	Het
Zfp608	T	C	18: 55,031,978 (GRCm39)	K654R	probably damaging	Het

Other mutations in Rcc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02040:Rcc2	APN	4	140,447,902 (GRCm39)	missense	possibly damaging	0.85
IGL02486:Rcc2	APN	4	140,437,673 (GRCm39)	missense	probably damaging	1.00
PIT4445001:Rcc2	UTSW	4	140,448,460 (GRCm39)	missense	possibly damaging	0.84
R0637:Rcc2	UTSW	4	140,445,055 (GRCm39)	splice site	probably benign
R1856:Rcc2	UTSW	4	140,447,915 (GRCm39)	missense	probably benign	0.17
R2107:Rcc2	UTSW	4	140,448,496 (GRCm39)	missense	probably damaging	1.00
R2152:Rcc2	UTSW	4	140,444,428 (GRCm39)	missense	probably damaging	1.00
R4809:Rcc2	UTSW	4	140,444,353 (GRCm39)	missense	probably damaging	1.00
R5004:Rcc2	UTSW	4	140,444,977 (GRCm39)	missense	possibly damaging	0.86
R5229:Rcc2	UTSW	4	140,444,340 (GRCm39)	missense	probably damaging	1.00
R5384:Rcc2	UTSW	4	140,447,877 (GRCm39)	nonsense	probably null
R5767:Rcc2	UTSW	4	140,443,230 (GRCm39)	missense	probably damaging	1.00
R5909:Rcc2	UTSW	4	140,444,379 (GRCm39)	missense	probably damaging	1.00
R6056:Rcc2	UTSW	4	140,444,335 (GRCm39)	missense	possibly damaging	0.73
R6698:Rcc2	UTSW	4	140,429,586 (GRCm39)	missense	probably benign	0.00
R7086:Rcc2	UTSW	4	140,435,280 (GRCm39)	missense	probably benign	0.20
R7252:Rcc2	UTSW	4	140,429,586 (GRCm39)	missense	probably benign	0.00
R7393:Rcc2	UTSW	4	140,444,341 (GRCm39)	missense	probably damaging	1.00
R8054:Rcc2	UTSW	4	140,429,586 (GRCm39)	missense	probably benign	0.00
R8055:Rcc2	UTSW	4	140,429,586 (GRCm39)	missense	probably benign	0.00
R8056:Rcc2	UTSW	4	140,429,586 (GRCm39)	missense	probably benign	0.00
R8057:Rcc2	UTSW	4	140,429,586 (GRCm39)	missense	probably benign	0.00
R8058:Rcc2	UTSW	4	140,429,586 (GRCm39)	missense	probably benign	0.00
R8501:Rcc2	UTSW	4	140,443,237 (GRCm39)	missense	probably damaging	0.97
R9200:Rcc2	UTSW	4	140,445,664 (GRCm39)	missense	probably benign	0.00
R9337:Rcc2	UTSW	4	140,445,689 (GRCm39)	missense	probably damaging	1.00
R9380:Rcc2	UTSW	4	140,429,702 (GRCm39)	missense	probably benign	0.07
R9767:Rcc2	UTSW	4	140,435,331 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATTTCCTGGAGTAACACGGTGTAG -3'
(R):5'- ACTGGCTGAAGTGCTCACTC -3'

Sequencing Primer
(F):5'- TAACACGGTGTAGGGACGGC -3'
(R):5'- TGAAGTGCTCACTCCCAGAC -3'

Posted On

2016-12-20