Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02040:Rcc2'

184694

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rcc2

Ensembl Gene

ENSMUSG00000040945

Gene Name

regulator of chromosome condensation 2

Synonyms

2610529N02Rik, 2610510H01Rik, Td60

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02040

Quality Score

Status

Chromosome

Chromosomal Location

140427852-140450531 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140447902 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 476 (V476A)

Ref Sequence

ENSEMBL: ENSMUSP00000071163 (fasta)

Gene Model

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

AlphaFold

Q8BK67

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038893
AA Change: V476A

PolyPhen 2 Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000038144
Gene: ENSMUSG00000040945
AA Change: V476A

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: V476A

PolyPhen 2 Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000071163
Gene: ENSMUSG00000040945
AA Change: V476A

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

Coding Region Coverage

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	T	G	5: 3,630,405 (GRCm39)	F107C	probably damaging	Het
4930590J08Rik	T	C	6: 91,895,091 (GRCm39)	V262A	probably benign	Het
A830018L16Rik	T	A	1: 12,003,822 (GRCm39)		probably benign	Het
Adgrb1	T	C	15: 74,413,424 (GRCm39)	V536A	possibly damaging	Het
Ano6	T	G	15: 95,853,825 (GRCm39)	I667R	probably benign	Het
Ap3b1	T	A	13: 94,545,353 (GRCm39)		probably null	Het
Azin2	G	T	4: 128,844,451 (GRCm39)	L37M	possibly damaging	Het
Caap1	A	G	4: 94,438,667 (GRCm39)	I174T	probably damaging	Het
Cacna1h	A	G	17: 25,616,585 (GRCm39)	V46A	probably benign	Het
Chrna6	T	C	8: 27,897,289 (GRCm39)	D196G	probably damaging	Het
Col19a1	A	G	1: 24,351,126 (GRCm39)		probably null	Het
Defb22	G	T	2: 152,331,976 (GRCm39)	T19K	possibly damaging	Het
Dhx36	T	C	3: 62,408,436 (GRCm39)	D134G	probably benign	Het
Dync1h1	A	G	12: 110,603,558 (GRCm39)	I2211V	probably benign	Het
Ecel1	A	C	1: 87,082,645 (GRCm39)	C23G	probably benign	Het
Elmod2	A	G	8: 84,048,126 (GRCm39)	V112A	probably damaging	Het
Enpp1	T	C	10: 24,531,754 (GRCm39)	K510E	probably damaging	Het
Erbb4	A	T	1: 68,081,694 (GRCm39)	S1113R	probably damaging	Het
Esf1	A	T	2: 139,971,181 (GRCm39)	D653E	possibly damaging	Het
Exd1	A	G	2: 119,370,546 (GRCm39)	V54A	possibly damaging	Het
Fam227b	A	T	2: 125,963,004 (GRCm39)		probably benign	Het
Fnbp1l	A	G	3: 122,364,602 (GRCm39)		probably benign	Het
Foxf1	A	G	8: 121,812,084 (GRCm39)	N316S	probably damaging	Het
Gpaa1	T	C	15: 76,218,495 (GRCm39)	V426A	probably benign	Het
Gpc2	A	G	5: 138,274,844 (GRCm39)		probably null	Het
Hnrnpab	A	G	11: 51,492,622 (GRCm39)		probably benign	Het
Hsf4	T	G	8: 106,002,299 (GRCm39)		probably benign	Het
Inpp4a	G	T	1: 37,435,166 (GRCm39)	R179L	probably damaging	Het
Jakmip2	T	A	18: 43,704,919 (GRCm39)	M361L	probably benign	Het
Kif15	A	C	9: 122,846,450 (GRCm39)	Y117S	probably damaging	Het
Lnpep	T	C	17: 17,765,167 (GRCm39)	H761R	probably benign	Het
Masp2	G	T	4: 148,688,270 (GRCm39)	C180F	probably damaging	Het
Mical2	A	G	7: 111,910,613 (GRCm39)	E261G	probably damaging	Het
Mtmr7	T	C	8: 41,013,926 (GRCm39)	I211V	probably benign	Het
Nsd2	T	C	5: 34,024,915 (GRCm39)		probably benign	Het
Or4c121	A	G	2: 89,023,907 (GRCm39)	I157T	probably benign	Het
Or51q1c	A	G	7: 103,652,614 (GRCm39)	N44S	probably damaging	Het
Or8d1b	T	C	9: 38,887,910 (GRCm39)		probably benign	Het
Or8j3c	A	G	2: 86,253,336 (GRCm39)	I228T	probably damaging	Het
Oxct1	G	A	15: 4,056,250 (GRCm39)		probably benign	Het
Pira13	A	G	7: 3,824,516 (GRCm39)		probably benign	Het
Plbd2	C	T	5: 120,625,507 (GRCm39)	S430N	probably damaging	Het
Postn	A	G	3: 54,270,110 (GRCm39)	K63R	probably benign	Het
Pramel19	G	A	4: 101,798,331 (GRCm39)	V101I	possibly damaging	Het
Proc	A	T	18: 32,267,913 (GRCm39)	V75E	probably benign	Het
Ptprt	T	C	2: 162,079,992 (GRCm39)	Y269C	probably damaging	Het
Recql5	A	G	11: 115,823,623 (GRCm39)	V41A	possibly damaging	Het
Ros1	T	A	10: 51,992,018 (GRCm39)	I1402F	probably damaging	Het
Rpgrip1	C	T	14: 52,358,476 (GRCm39)	T194I	possibly damaging	Het
Scin	T	C	12: 40,119,452 (GRCm39)		probably benign	Het
Skint4	T	C	4: 112,003,679 (GRCm39)		probably benign	Het
Sptan1	T	A	2: 29,903,725 (GRCm39)	S1545T	probably benign	Het
Tpra1	A	T	6: 88,887,164 (GRCm39)	H168L	possibly damaging	Het
Trim47	T	C	11: 115,998,734 (GRCm39)	E295G	probably damaging	Het
Ttc28	T	A	5: 111,040,802 (GRCm39)	C63*	probably null	Het
Usp45	G	A	4: 21,830,433 (GRCm39)	R696H	probably benign	Het
Zfyve27	G	A	19: 42,167,830 (GRCm39)	R124Q	probably damaging	Het

Other mutations in Rcc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R5840:Rcc2	UTSW	4	140,439,449 (GRCm39)	missense	possibly damaging	0.95
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

Posted On

2014-05-07