Incidental Mutation 'R5903:Cntrob'
ID |
508668 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntrob
|
Ensembl Gene |
ENSMUSG00000032782 |
Gene Name |
centrobin, centrosomal BRCA2 interacting protein |
Synonyms |
Nip2, 9830165K03Rik, Lip8 |
MMRRC Submission |
044101-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.175)
|
Stock # |
R5903 (G1)
|
Quality Score |
55 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
69190313-69214601 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 69200201 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 564
(S564R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000090651
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092973]
[ENSMUST00000123176]
|
AlphaFold |
Q8CB62 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092973
AA Change: S564R
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000090651 Gene: ENSMUSG00000032782 AA Change: S564R
Domain | Start | End | E-Value | Type |
coiled coil region
|
191 |
218 |
N/A |
INTRINSIC |
coiled coil region
|
249 |
557 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123176
|
Predicted Effect |
unknown
Transcript: ENSMUST00000135979
AA Change: S22R
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148490
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156175
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176938
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.8%
|
Validation Efficiency |
98% (58/59) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a centrosomal protein that interacts with BRCA2, and is required for centriole duplication and cytokinesis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130230L23Rik |
A |
G |
5: 66,145,661 (GRCm39) |
V150A |
unknown |
Het |
Abraxas1 |
T |
C |
5: 100,965,824 (GRCm39) |
|
probably null |
Het |
Actl7a |
G |
T |
4: 56,743,827 (GRCm39) |
R118L |
probably damaging |
Het |
Atg2b |
T |
C |
12: 105,605,618 (GRCm39) |
D1449G |
possibly damaging |
Het |
Atg7 |
G |
A |
6: 114,683,254 (GRCm39) |
W439* |
probably null |
Het |
Atp6v0a2 |
T |
A |
5: 124,789,343 (GRCm39) |
I370N |
probably damaging |
Het |
B4galt1 |
T |
C |
4: 40,807,760 (GRCm39) |
D347G |
probably damaging |
Het |
Baz2b |
C |
T |
2: 59,790,233 (GRCm39) |
C660Y |
probably damaging |
Het |
Ccdc88c |
T |
C |
12: 100,896,801 (GRCm39) |
Y1390C |
probably damaging |
Het |
Cdcp1 |
G |
A |
9: 123,002,837 (GRCm39) |
Q745* |
probably null |
Het |
Cep97 |
G |
A |
16: 55,739,889 (GRCm39) |
S185L |
probably damaging |
Het |
Clec4d |
A |
G |
6: 123,244,020 (GRCm39) |
H43R |
probably damaging |
Het |
Cntn3 |
T |
A |
6: 102,219,094 (GRCm39) |
M509L |
probably benign |
Het |
Cyp2j8 |
T |
A |
4: 96,395,514 (GRCm39) |
N37I |
possibly damaging |
Het |
Edc4 |
A |
G |
8: 106,617,219 (GRCm39) |
T1029A |
probably benign |
Het |
Fhip2b |
A |
T |
14: 70,829,121 (GRCm39) |
V64E |
probably damaging |
Het |
Fmnl1 |
G |
T |
11: 103,062,270 (GRCm39) |
|
probably null |
Het |
Fzd6 |
T |
A |
15: 38,870,783 (GRCm39) |
M1K |
probably null |
Het |
Gle1 |
C |
A |
2: 29,830,293 (GRCm39) |
T283N |
probably benign |
Het |
Hsd17b14 |
T |
C |
7: 45,215,386 (GRCm39) |
V161A |
probably damaging |
Het |
Hsf2 |
T |
C |
10: 57,380,819 (GRCm39) |
S218P |
probably benign |
Het |
Ipo7 |
T |
A |
7: 109,650,020 (GRCm39) |
C736S |
probably damaging |
Het |
Itpkb |
G |
T |
1: 180,241,540 (GRCm39) |
V737L |
probably damaging |
Het |
Itpr1 |
T |
C |
6: 108,466,758 (GRCm39) |
|
probably benign |
Het |
Kcnh8 |
G |
T |
17: 53,110,364 (GRCm39) |
V192L |
possibly damaging |
Het |
Kctd10 |
G |
A |
5: 114,518,523 (GRCm39) |
|
probably benign |
Het |
Kdm3a |
C |
A |
6: 71,609,234 (GRCm39) |
|
probably benign |
Het |
Kif5a |
T |
A |
10: 127,066,447 (GRCm39) |
M990L |
probably benign |
Het |
Klf12 |
A |
G |
14: 100,260,124 (GRCm39) |
S202P |
probably damaging |
Het |
Krt81 |
T |
G |
15: 101,358,083 (GRCm39) |
Q390P |
probably damaging |
Het |
Lrig3 |
T |
C |
10: 125,844,347 (GRCm39) |
S604P |
probably damaging |
Het |
Ms4a1 |
A |
T |
19: 11,235,612 (GRCm39) |
V48D |
probably damaging |
Het |
Mta1 |
C |
T |
12: 113,100,239 (GRCm39) |
P688L |
probably damaging |
Het |
Oas1h |
T |
C |
5: 121,009,040 (GRCm39) |
V250A |
probably damaging |
Het |
Or10c1 |
A |
T |
17: 37,521,912 (GRCm39) |
Y277* |
probably null |
Het |
Or52z13 |
G |
T |
7: 103,247,128 (GRCm39) |
G202* |
probably null |
Het |
P2rx3 |
T |
C |
2: 84,831,071 (GRCm39) |
E265G |
possibly damaging |
Het |
Pdzd8 |
A |
G |
19: 59,333,718 (GRCm39) |
I101T |
possibly damaging |
Het |
Psme4 |
A |
T |
11: 30,791,589 (GRCm39) |
N1148I |
probably benign |
Het |
Rnf213 |
T |
C |
11: 119,312,195 (GRCm39) |
L874P |
probably damaging |
Het |
Sart3 |
T |
C |
5: 113,889,300 (GRCm39) |
Y508C |
probably damaging |
Het |
Sez6l2 |
T |
C |
7: 126,569,305 (GRCm39) |
|
probably benign |
Het |
Slc9b1 |
C |
T |
3: 135,098,655 (GRCm39) |
|
probably benign |
Het |
Stmn3 |
T |
C |
2: 180,950,573 (GRCm39) |
K78E |
possibly damaging |
Het |
Thsd4 |
T |
A |
9: 60,301,389 (GRCm39) |
N302I |
possibly damaging |
Het |
Trdv5 |
A |
T |
14: 54,386,242 (GRCm39) |
H74Q |
probably benign |
Het |
Tubb4b |
C |
T |
2: 25,113,993 (GRCm39) |
R77H |
probably benign |
Het |
Ugt1a6a |
C |
T |
1: 88,142,845 (GRCm39) |
P113L |
probably damaging |
Het |
Unc5a |
T |
A |
13: 55,147,503 (GRCm39) |
C438S |
possibly damaging |
Het |
Zan |
C |
A |
5: 137,440,396 (GRCm39) |
C1946F |
unknown |
Het |
|
Other mutations in Cntrob |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02975:Cntrob
|
APN |
11 |
69,210,199 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL03173:Cntrob
|
APN |
11 |
69,200,853 (GRCm39) |
missense |
possibly damaging |
0.90 |
groats
|
UTSW |
11 |
69,200,317 (GRCm39) |
nonsense |
probably null |
|
BB005:Cntrob
|
UTSW |
11 |
69,191,121 (GRCm39) |
missense |
probably damaging |
0.97 |
BB015:Cntrob
|
UTSW |
11 |
69,191,121 (GRCm39) |
missense |
probably damaging |
0.97 |
R0270:Cntrob
|
UTSW |
11 |
69,202,167 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0501:Cntrob
|
UTSW |
11 |
69,213,694 (GRCm39) |
missense |
probably damaging |
1.00 |
R1749:Cntrob
|
UTSW |
11 |
69,213,700 (GRCm39) |
missense |
probably damaging |
0.99 |
R1775:Cntrob
|
UTSW |
11 |
69,211,693 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1900:Cntrob
|
UTSW |
11 |
69,198,880 (GRCm39) |
missense |
probably benign |
0.27 |
R1967:Cntrob
|
UTSW |
11 |
69,211,789 (GRCm39) |
missense |
probably damaging |
0.97 |
R2495:Cntrob
|
UTSW |
11 |
69,213,749 (GRCm39) |
missense |
probably damaging |
0.96 |
R3121:Cntrob
|
UTSW |
11 |
69,213,526 (GRCm39) |
nonsense |
probably null |
|
R3780:Cntrob
|
UTSW |
11 |
69,193,708 (GRCm39) |
missense |
probably damaging |
0.97 |
R4449:Cntrob
|
UTSW |
11 |
69,196,375 (GRCm39) |
missense |
probably benign |
0.29 |
R4696:Cntrob
|
UTSW |
11 |
69,211,714 (GRCm39) |
missense |
probably damaging |
1.00 |
R4841:Cntrob
|
UTSW |
11 |
69,206,220 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4842:Cntrob
|
UTSW |
11 |
69,206,220 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4908:Cntrob
|
UTSW |
11 |
69,211,732 (GRCm39) |
missense |
probably damaging |
0.97 |
R4982:Cntrob
|
UTSW |
11 |
69,202,188 (GRCm39) |
splice site |
probably null |
|
R5168:Cntrob
|
UTSW |
11 |
69,190,816 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5187:Cntrob
|
UTSW |
11 |
69,212,717 (GRCm39) |
missense |
possibly damaging |
0.62 |
R5307:Cntrob
|
UTSW |
11 |
69,205,576 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5473:Cntrob
|
UTSW |
11 |
69,213,579 (GRCm39) |
missense |
possibly damaging |
0.81 |
R6643:Cntrob
|
UTSW |
11 |
69,202,248 (GRCm39) |
missense |
possibly damaging |
0.46 |
R6742:Cntrob
|
UTSW |
11 |
69,213,749 (GRCm39) |
missense |
probably damaging |
0.96 |
R6964:Cntrob
|
UTSW |
11 |
69,200,317 (GRCm39) |
nonsense |
probably null |
|
R7020:Cntrob
|
UTSW |
11 |
69,193,918 (GRCm39) |
critical splice donor site |
probably null |
|
R7425:Cntrob
|
UTSW |
11 |
69,205,560 (GRCm39) |
nonsense |
probably null |
|
R7928:Cntrob
|
UTSW |
11 |
69,191,121 (GRCm39) |
missense |
probably damaging |
0.97 |
R7946:Cntrob
|
UTSW |
11 |
69,206,047 (GRCm39) |
missense |
possibly damaging |
0.82 |
R8348:Cntrob
|
UTSW |
11 |
69,190,679 (GRCm39) |
missense |
unknown |
|
R8448:Cntrob
|
UTSW |
11 |
69,190,679 (GRCm39) |
missense |
unknown |
|
R8539:Cntrob
|
UTSW |
11 |
69,211,652 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9259:Cntrob
|
UTSW |
11 |
69,211,665 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9415:Cntrob
|
UTSW |
11 |
69,193,741 (GRCm39) |
missense |
possibly damaging |
0.66 |
R9553:Cntrob
|
UTSW |
11 |
69,205,679 (GRCm39) |
missense |
probably benign |
0.00 |
R9626:Cntrob
|
UTSW |
11 |
69,202,167 (GRCm39) |
missense |
possibly damaging |
0.66 |
R9628:Cntrob
|
UTSW |
11 |
69,213,782 (GRCm39) |
missense |
possibly damaging |
0.66 |
R9801:Cntrob
|
UTSW |
11 |
69,212,233 (GRCm39) |
missense |
possibly damaging |
0.82 |
Z1177:Cntrob
|
UTSW |
11 |
69,202,275 (GRCm39) |
missense |
possibly damaging |
0.66 |
Z1186:Cntrob
|
UTSW |
11 |
69,198,882 (GRCm39) |
missense |
probably benign |
0.23 |
Z1186:Cntrob
|
UTSW |
11 |
69,196,404 (GRCm39) |
missense |
probably benign |
|
Z1187:Cntrob
|
UTSW |
11 |
69,198,882 (GRCm39) |
missense |
probably benign |
0.23 |
Z1187:Cntrob
|
UTSW |
11 |
69,196,404 (GRCm39) |
missense |
probably benign |
|
Z1188:Cntrob
|
UTSW |
11 |
69,198,882 (GRCm39) |
missense |
probably benign |
0.23 |
Z1188:Cntrob
|
UTSW |
11 |
69,196,404 (GRCm39) |
missense |
probably benign |
|
Z1189:Cntrob
|
UTSW |
11 |
69,198,882 (GRCm39) |
missense |
probably benign |
0.23 |
Z1189:Cntrob
|
UTSW |
11 |
69,196,404 (GRCm39) |
missense |
probably benign |
|
Z1190:Cntrob
|
UTSW |
11 |
69,198,882 (GRCm39) |
missense |
probably benign |
0.23 |
Z1190:Cntrob
|
UTSW |
11 |
69,196,404 (GRCm39) |
missense |
probably benign |
|
Z1191:Cntrob
|
UTSW |
11 |
69,198,882 (GRCm39) |
missense |
probably benign |
0.23 |
Z1191:Cntrob
|
UTSW |
11 |
69,196,404 (GRCm39) |
missense |
probably benign |
|
Z1192:Cntrob
|
UTSW |
11 |
69,198,882 (GRCm39) |
missense |
probably benign |
0.23 |
Z1192:Cntrob
|
UTSW |
11 |
69,196,404 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TAGTCATTATCTCACCAAACTAGTACC -3'
(R):5'- TTCAGGTCTGATACTGCACCC -3'
Sequencing Primer
(F):5'- CTAGTACCACATATTCATTCACATGC -3'
(R):5'- AAAGCTCGCCAGTTTGACTG -3'
|
Posted On |
2018-03-23 |