Mutagenetix > Incidental Mutation

Incidental Mutation 'R8056:Rcc2'

619363

Institutional Source

Beutler Lab

Gene Symbol

Rcc2

Ensembl Gene

ENSMUSG00000040945

Gene Name

regulator of chromosome condensation 2

Synonyms

2610529N02Rik, 2610510H01Rik, Td60

MMRRC Submission

067493-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8056 (G1)

Quality Score

82.0076

Status

Not validated

Chromosome

Chromosomal Location

140427852-140450531 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 140429586 bp (GRCm39)

Zygosity

Heterozygous

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]

AlphaFold

Q8BK67

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

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 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

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

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (75/75)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	T	C	11: 48,910,909 (GRCm39)	E508G	probably benign	Het
Acsl3	C	T	1: 78,659,611 (GRCm39)	L88F	probably damaging	Het
Adamtsl1	C	T	4: 86,260,269 (GRCm39)	P835S	possibly damaging	Het
Agrn	A	G	4: 156,254,868 (GRCm39)	V1616A	probably benign	Het
Bmerb1	T	A	16: 13,856,180 (GRCm39)		probably benign	Het
Brca2	T	C	5: 150,492,771 (GRCm39)	V3262A	possibly damaging	Het
Bsn	T	C	9: 107,982,506 (GRCm39)	D977G		Het
Cic	G	T	7: 24,990,366 (GRCm39)	A1956S	possibly damaging	Het
Clip4	C	A	17: 72,110,587 (GRCm39)	T189K	probably damaging	Het
Col12a1	T	C	9: 79,507,220 (GRCm39)	E279G		Het
Col24a1	A	C	3: 145,019,925 (GRCm39)	I99L	possibly damaging	Het
Cpne3	A	G	4: 19,532,426 (GRCm39)	V329A	possibly damaging	Het
Cyp17a1	T	C	19: 46,659,030 (GRCm39)	I204V	possibly damaging	Het
Cyp2c66	A	G	19: 39,130,485 (GRCm39)	I107V	probably benign	Het
Dennd4c	A	G	4: 86,763,213 (GRCm39)	R1840G	probably null	Het
Dhx36	A	T	3: 62,396,012 (GRCm39)	L465Q	possibly damaging	Het
Edc4	A	G	8: 106,617,116 (GRCm39)		probably benign	Het
Efcab3	A	G	11: 104,799,896 (GRCm39)	T2931A	probably damaging	Het
Fam133b	A	T	5: 3,615,744 (GRCm39)	R215S	unknown	Het
Fbh1	G	A	2: 11,748,441 (GRCm39)	T985I	probably benign	Het
Fras1	A	G	5: 96,892,633 (GRCm39)	D2911G	probably damaging	Het
Gm13889	A	T	2: 93,787,020 (GRCm39)	D151E	probably damaging	Het
Gosr2	C	A	11: 103,588,530 (GRCm39)		probably benign	Het
Igkv8-26	T	A	6: 70,170,706 (GRCm39)	L99H	probably damaging	Het
Inhca	A	G	9: 103,143,423 (GRCm39)	C438R	probably damaging	Het
Kif16b	A	G	2: 142,554,762 (GRCm39)	F679L	probably damaging	Het
Kif1a	G	C	1: 92,982,423 (GRCm39)		probably benign	Het
Kif3b	G	C	2: 153,171,979 (GRCm39)	R716S	possibly damaging	Het
Lilra6	A	T	7: 3,915,551 (GRCm39)	C395S	probably damaging	Het
Lrp5	A	G	19: 3,647,337 (GRCm39)	F1302L	probably damaging	Het
Map2	T	G	1: 66,454,779 (GRCm39)	V1223G	probably damaging	Het
Mical1	T	A	10: 41,357,168 (GRCm39)	N324K	probably damaging	Het
Morc3	T	A	16: 93,642,064 (GRCm39)	H94Q	probably benign	Het
Mpped1	T	C	15: 83,720,663 (GRCm39)	V199A	possibly damaging	Het
Msx1	G	A	5: 37,981,544 (GRCm39)	T45I	probably benign	Het
Myh7	G	A	14: 55,210,776 (GRCm39)	Q1714*	probably null	Het
Narf	T	C	11: 121,136,170 (GRCm39)	V182A	possibly damaging	Het
Ncapd2	G	A	6: 125,148,006 (GRCm39)	T1107M	probably damaging	Het
Nek3	A	G	8: 22,619,359 (GRCm39)		probably null	Het
Neurog1	G	T	13: 56,399,223 (GRCm39)	P175T	probably damaging	Het
Nlrp9c	T	C	7: 26,085,112 (GRCm39)	T156A	probably damaging	Het
Or1ad1	T	A	11: 50,876,368 (GRCm39)	V280E	probably damaging	Het
Or2a20	A	T	6: 43,193,978 (GRCm39)	I44F	probably damaging	Het
Or6c3	G	A	10: 129,309,061 (GRCm39)	A167T	probably benign	Het
Orm3	A	G	4: 63,277,594 (GRCm39)	E194G	probably benign	Het
Pga5	A	C	19: 10,654,161 (GRCm39)		probably benign	Het
Pik3r2	G	T	8: 71,225,011 (GRCm39)	P151T	probably benign	Het
Pkp2	T	C	16: 16,031,264 (GRCm39)	C10R	probably benign	Het
Plxdc1	T	A	11: 97,869,343 (GRCm39)	R82W	probably damaging	Het
Polr2c	G	A	8: 95,586,895 (GRCm39)	A54T	probably benign	Het
Rab31	T	C	17: 66,024,503 (GRCm39)	I59V	probably benign	Het
Rasgrf2	T	C	13: 92,167,321 (GRCm39)	M251V	probably damaging	Het
Rfc1	A	C	5: 65,451,436 (GRCm39)		probably benign	Het
Rhag	T	C	17: 41,139,679 (GRCm39)	I137T	probably damaging	Het
Rnf216	T	C	5: 142,978,616 (GRCm39)	M841V	probably benign	Het
Scaf11	C	A	15: 96,312,698 (GRCm39)	E1448*	probably null	Het
Septin11	T	C	5: 93,315,435 (GRCm39)	L388P	unknown	Het
Serpina1b	A	T	12: 103,784,137 (GRCm39)		probably benign	Het
Skint10	A	G	4: 112,573,010 (GRCm39)	I262T	probably benign	Het
Slc13a4	C	T	6: 35,245,887 (GRCm39)	G586E	probably damaging	Het
Slc8a1	C	T	17: 81,955,352 (GRCm39)	G562E	probably damaging	Het
Slc8b1	T	A	5: 120,658,682 (GRCm39)	L126Q	probably damaging	Het
Smg1	A	G	7: 117,759,589 (GRCm39)	Y2086H	unknown	Het
Spmip10	A	G	18: 56,727,763 (GRCm39)	N79S		Het
Taf1c	A	T	8: 120,330,202 (GRCm39)	D47E	probably benign	Het
Tbx5	A	C	5: 119,991,678 (GRCm39)	M250L	probably benign	Het
Tekt3	T	C	11: 62,974,785 (GRCm39)		probably null	Het
Topors	T	C	4: 40,262,221 (GRCm39)	I354M	probably benign	Het
Ttn	C	A	2: 76,778,574 (GRCm39)	G1309V	unknown	Het
Ttyh1	C	T	7: 4,127,622 (GRCm39)		probably benign	Het
Ubac1	A	G	2: 25,897,909 (GRCm39)	I237T	probably benign	Het
Vmn1r197	T	A	13: 22,512,388 (GRCm39)	V103D	probably damaging	Het
Zfp184	T	C	13: 22,143,008 (GRCm39)	F238S	probably damaging	Het
Zfp445	A	G	9: 122,681,032 (GRCm39)	F970L	possibly damaging	Het
Zfp90	A	T	8: 107,151,112 (GRCm39)	E275V	probably damaging	Het
Zscan12	C	G	13: 21,553,492 (GRCm39)	Q439E	probably benign	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
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
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'- ACGAAAGTTCCTCTTTTCGCG -3'
(R):5'- ACTGGCTCCCCGGAGTTC -3'

Sequencing Primer
(F):5'- CGTGCTCGCAGGTGCTTG -3'
(R):5'- TCCCCGGAGTTCCCCCG -3'

Posted On

2020-01-23