Incidental Mutation 'R7020:Cntrob'
| ID |
545575 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntrob
|
| Ensembl Gene |
ENSMUSG00000032782 |
| Gene Name |
centrobin, centrosomal BRCA2 interacting protein |
| Synonyms |
Nip2, 9830165K03Rik, Lip8 |
| MMRRC Submission |
045121-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
R7020 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
69190313-69214601 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 69193918 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134842
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092973]
[ENSMUST00000123176]
[ENSMUST00000130780]
|
| AlphaFold |
Q8CB62 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000092973
|
| SMART Domains |
Protein: ENSMUSP00000090651
Gene: ENSMUSG00000032782
| 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 |
probably null
Transcript: ENSMUST00000130780
|
| SMART Domains |
Protein: ENSMUSP00000134842
Gene: ENSMUSG00000032782
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
64 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176938
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (52/52) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001K19Rik |
C |
T |
12: 110,634,975 (GRCm39) |
G188R |
probably damaging |
Het |
| Abhd3 |
T |
C |
18: 10,645,127 (GRCm39) |
Y384C |
probably damaging |
Het |
| Cd209b |
T |
A |
8: 3,968,783 (GRCm39) |
E282V |
probably damaging |
Het |
| Cep350 |
A |
C |
1: 155,804,077 (GRCm39) |
L1002W |
probably damaging |
Het |
| Clcn1 |
T |
C |
6: 42,275,754 (GRCm39) |
V292A |
probably damaging |
Het |
| Clcn7 |
T |
C |
17: 25,365,325 (GRCm39) |
I107T |
possibly damaging |
Het |
| Crb1 |
A |
T |
1: 139,159,341 (GRCm39) |
S1294T |
possibly damaging |
Het |
| Cst13 |
T |
G |
2: 148,665,129 (GRCm39) |
Y41* |
probably null |
Het |
| Gp1ba |
A |
G |
11: 70,531,139 (GRCm39) |
|
probably benign |
Het |
| Gucy2e |
A |
T |
11: 69,123,619 (GRCm39) |
L427I |
probably benign |
Het |
| Gucy2g |
A |
G |
19: 55,221,482 (GRCm39) |
S340P |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,393,360 (GRCm39) |
T4080A |
probably benign |
Het |
| Iglon5 |
A |
T |
7: 43,126,319 (GRCm39) |
C195S |
probably damaging |
Het |
| Itgae |
A |
G |
11: 73,002,195 (GRCm39) |
T100A |
probably damaging |
Het |
| Jarid2 |
C |
T |
13: 45,038,300 (GRCm39) |
S205L |
probably damaging |
Het |
| Macrod2 |
A |
T |
2: 142,231,795 (GRCm39) |
*424C |
probably null |
Het |
| Map2k6 |
A |
T |
11: 110,397,540 (GRCm39) |
|
probably benign |
Het |
| Muc4 |
A |
T |
16: 32,570,628 (GRCm39) |
K563* |
probably null |
Het |
| Myh7b |
T |
C |
2: 155,473,671 (GRCm39) |
I1568T |
possibly damaging |
Het |
| Myo15b |
G |
A |
11: 115,757,493 (GRCm39) |
W1114* |
probably null |
Het |
| Mypn |
T |
C |
10: 63,028,289 (GRCm39) |
Y258C |
probably damaging |
Het |
| Notch1 |
T |
C |
2: 26,371,586 (GRCm39) |
T288A |
possibly damaging |
Het |
| Npc1 |
C |
T |
18: 12,331,594 (GRCm39) |
G859R |
probably damaging |
Het |
| Olfm2 |
T |
A |
9: 20,579,864 (GRCm39) |
R326W |
probably damaging |
Het |
| Or2a7 |
T |
C |
6: 43,151,096 (GRCm39) |
Y59H |
possibly damaging |
Het |
| Or5al7 |
A |
G |
2: 85,992,363 (GRCm39) |
I310T |
probably benign |
Het |
| Or5g23 |
A |
G |
2: 85,438,976 (GRCm39) |
S93P |
probably benign |
Het |
| Ovol1 |
G |
A |
19: 5,610,261 (GRCm39) |
P23L |
probably damaging |
Het |
| Pappa2 |
C |
A |
1: 158,675,579 (GRCm39) |
V1056F |
probably damaging |
Het |
| Pik3ca |
T |
C |
3: 32,490,428 (GRCm39) |
L25S |
probably damaging |
Het |
| Pla2r1 |
T |
C |
2: 60,277,743 (GRCm39) |
H860R |
possibly damaging |
Het |
| Pms1 |
A |
T |
1: 53,228,541 (GRCm39) |
H902Q |
probably damaging |
Het |
| Ptgs1 |
T |
G |
2: 36,141,041 (GRCm39) |
L496R |
probably damaging |
Het |
| Ralgapa2 |
A |
T |
2: 146,188,638 (GRCm39) |
Y1381* |
probably null |
Het |
| Rtl1 |
T |
C |
12: 109,558,749 (GRCm39) |
Q1030R |
possibly damaging |
Het |
| Ryr3 |
T |
A |
2: 112,583,423 (GRCm39) |
Y2816F |
probably benign |
Het |
| Sh2b2 |
T |
C |
5: 136,253,153 (GRCm39) |
T340A |
possibly damaging |
Het |
| Slc30a5 |
T |
A |
13: 100,961,421 (GRCm39) |
|
probably null |
Het |
| Spta1 |
T |
C |
1: 174,036,918 (GRCm39) |
L1143P |
probably damaging |
Het |
| St8sia5 |
T |
C |
18: 77,333,876 (GRCm39) |
I178T |
probably damaging |
Het |
| Tap2 |
A |
G |
17: 34,433,388 (GRCm39) |
N517S |
possibly damaging |
Het |
| Tcp11 |
A |
G |
17: 28,290,679 (GRCm39) |
Y227H |
possibly damaging |
Het |
| Usp34 |
A |
G |
11: 23,343,954 (GRCm39) |
D1411G |
probably benign |
Het |
| Vmn2r105 |
A |
G |
17: 20,429,336 (GRCm39) |
L580P |
probably damaging |
Het |
| Wdr19 |
A |
G |
5: 65,413,657 (GRCm39) |
E1200G |
probably damaging |
Het |
| Xirp2 |
T |
C |
2: 67,355,913 (GRCm39) |
V3558A |
probably benign |
Het |
| Xpo7 |
T |
C |
14: 70,903,463 (GRCm39) |
N1082S |
probably benign |
Het |
| Zbtb49 |
A |
T |
5: 38,370,711 (GRCm39) |
L390* |
probably null |
Het |
| Zfp639 |
C |
A |
3: 32,574,261 (GRCm39) |
D295E |
probably damaging |
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 |
|
R5903:Cntrob
|
UTSW |
11 |
69,200,201 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
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 |
|
|
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'- AGCCTCTTCAGGTACAGGAG -3'
(R):5'- TTCCTAATGCCAGGCTCTCG -3'
Sequencing Primer
(F):5'- TCTTCAGGTACAGGAGCAGGTC -3'
(R):5'- CTCGGGCTGTCTCGTCTTG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation