Incidental Mutation 'R8501:Rcc2'
| ID |
655317 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rcc2
|
| Ensembl Gene |
ENSMUSG00000040945 |
| Gene Name |
regulator of chromosome condensation 2 |
| Synonyms |
2610529N02Rik, 2610510H01Rik, Td60 |
| MMRRC Submission |
067838-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8501 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
140427852-140450531 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 140443237 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 305
(L305P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038144
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038893]
[ENSMUST00000071169]
|
| AlphaFold |
Q8BK67 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038893
AA Change: L305P
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000038144
Gene: ENSMUSG00000040945
AA Change: L305P
| 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: L305P
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000071163
Gene: ENSMUSG00000040945
AA Change: L305P
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031439G07Rik |
C |
T |
15: 84,844,724 (GRCm39) |
V98M |
probably damaging |
Het |
| Agbl2 |
G |
A |
2: 90,627,908 (GRCm39) |
G238R |
probably damaging |
Het |
| Atg2a |
T |
C |
19: 6,304,420 (GRCm39) |
S1146P |
probably damaging |
Het |
| Atg3 |
C |
A |
16: 45,003,294 (GRCm39) |
D207E |
probably damaging |
Het |
| Atp8b3 |
A |
G |
10: 80,355,980 (GRCm39) |
V1244A |
probably benign |
Het |
| Cacna1i |
T |
C |
15: 80,266,247 (GRCm39) |
|
probably null |
Het |
| Ccdc171 |
G |
T |
4: 83,581,895 (GRCm39) |
E675* |
probably null |
Het |
| Cep68 |
A |
T |
11: 20,189,132 (GRCm39) |
S627T |
unknown |
Het |
| Chrnd |
T |
C |
1: 87,120,338 (GRCm39) |
W165R |
probably damaging |
Het |
| Col6a2 |
G |
T |
10: 76,439,391 (GRCm39) |
A791D |
probably damaging |
Het |
| Dlg2 |
C |
A |
7: 92,024,930 (GRCm39) |
S598R |
probably damaging |
Het |
| Elfn2 |
G |
T |
15: 78,558,500 (GRCm39) |
Q16K |
probably benign |
Het |
| Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
| Gpr165 |
C |
A |
X: 95,757,623 (GRCm39) |
D7E |
probably benign |
Het |
| Grm8 |
A |
T |
6: 27,618,540 (GRCm39) |
M434K |
probably damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Igf2 |
G |
C |
7: 142,207,779 (GRCm39) |
P106R |
probably damaging |
Het |
| Klf7 |
T |
C |
1: 64,118,322 (GRCm39) |
S92G |
probably benign |
Het |
| Mme |
T |
A |
3: 63,234,156 (GRCm39) |
M73K |
probably damaging |
Het |
| Musk |
G |
C |
4: 58,367,502 (GRCm39) |
K588N |
probably damaging |
Het |
| Naa30 |
C |
A |
14: 49,410,353 (GRCm39) |
H94N |
possibly damaging |
Het |
| Naip6 |
C |
T |
13: 100,436,784 (GRCm39) |
A580T |
possibly damaging |
Het |
| Nfya |
A |
G |
17: 48,706,017 (GRCm39) |
L52P |
unknown |
Het |
| Or14j5 |
A |
G |
17: 38,161,756 (GRCm39) |
Y91C |
probably damaging |
Het |
| Or1j17 |
A |
G |
2: 36,578,809 (GRCm39) |
N265S |
probably benign |
Het |
| Or51b6 |
T |
A |
7: 103,555,818 (GRCm39) |
H54Q |
|
Het |
| Otogl |
A |
T |
10: 107,626,421 (GRCm39) |
M1481K |
probably benign |
Het |
| P4ha3 |
A |
G |
7: 99,962,562 (GRCm39) |
D440G |
probably damaging |
Het |
| Pcdhb13 |
A |
T |
18: 37,577,493 (GRCm39) |
T624S |
probably damaging |
Het |
| Phf8-ps |
C |
A |
17: 33,286,038 (GRCm39) |
A255S |
probably benign |
Het |
| Piezo2 |
A |
G |
18: 63,178,611 (GRCm39) |
Y1769H |
probably damaging |
Het |
| Plekha6 |
T |
A |
1: 133,215,575 (GRCm39) |
V913E |
probably benign |
Het |
| Rapgefl1 |
A |
G |
11: 98,733,053 (GRCm39) |
E211G |
possibly damaging |
Het |
| Rgs3 |
G |
T |
4: 62,521,193 (GRCm39) |
V47F |
possibly damaging |
Het |
| Scly |
A |
G |
1: 91,246,798 (GRCm39) |
S370G |
probably damaging |
Het |
| Setmar |
T |
A |
6: 108,052,822 (GRCm39) |
D105E |
probably benign |
Het |
| Slc9a9 |
A |
G |
9: 94,737,792 (GRCm39) |
Y233C |
probably damaging |
Het |
| Sp140 |
A |
T |
1: 85,569,461 (GRCm39) |
N357I |
probably damaging |
Het |
| Trim30c |
G |
C |
7: 104,036,677 (GRCm39) |
T227R |
probably benign |
Het |
| Unc79 |
G |
A |
12: 103,058,897 (GRCm39) |
V1014I |
probably damaging |
Het |
| Vmn1r151 |
A |
T |
7: 22,199,034 (GRCm39) |
F24I |
probably damaging |
Het |
| Vmn2r78 |
T |
C |
7: 86,570,094 (GRCm39) |
V204A |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,659,484 (GRCm39) |
D1681G |
probably benign |
Het |
| Vwa2 |
T |
C |
19: 56,897,414 (GRCm39) |
V573A |
probably benign |
Het |
| Wfdc2 |
A |
G |
2: 164,405,279 (GRCm39) |
D44G |
probably damaging |
Het |
| Zfp40 |
T |
A |
17: 23,397,272 (GRCm39) |
N75I |
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 |
|
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 |
|
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'- CGGTGTTAGGTACCAGCTTG -3'
(R):5'- TGCAAGTTGTCTGCAGAGG -3'
Sequencing Primer
(F):5'- CTTGTGAGCAACTGGGCAGAC -3'
(R):5'- TCAGCCAAATGACATAGCTTGAG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation