Incidental Mutation 'R6742:Cntrob'
| ID |
530500 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntrob
|
| Ensembl Gene |
ENSMUSG00000032782 |
| Gene Name |
centrobin, centrosomal BRCA2 interacting protein |
| Synonyms |
Nip2, 9830165K03Rik, Lip8 |
| MMRRC Submission |
044859-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
R6742 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
69190313-69214601 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 69213749 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 14
(P14S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090651
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018614]
[ENSMUST00000060956]
[ENSMUST00000092973]
[ENSMUST00000102601]
[ENSMUST00000102602]
[ENSMUST00000108662]
[ENSMUST00000123176]
|
| AlphaFold |
Q8CB62 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018614
|
| SMART Domains |
Protein: ENSMUSP00000018614
Gene: ENSMUSG00000018470
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
65 |
N/A |
INTRINSIC |
|
Pfam:Aldo_ket_red
|
92 |
396 |
1.6e-70 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060956
|
| SMART Domains |
Protein: ENSMUSP00000050153
Gene: ENSMUSG00000049299
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sybindin
|
3 |
109 |
2.2e-33 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092973
AA Change: P14S
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000090651
Gene: ENSMUSG00000032782
AA Change: P14S
| 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: ENSMUST00000102601
|
| SMART Domains |
Protein: ENSMUSP00000099661
Gene: ENSMUSG00000049299
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sybindin
|
3 |
137 |
1.4e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102602
|
| SMART Domains |
Protein: ENSMUSP00000099662
Gene: ENSMUSG00000049299
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sybindin
|
3 |
137 |
1.4e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108662
|
| SMART Domains |
Protein: ENSMUSP00000104302
Gene: ENSMUSG00000049299
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sybindin
|
3 |
127 |
2.2e-42 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123176
AA Change: P14S
PolyPhen 2
Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140555
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142328
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176938
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176111
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125777
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (46/46) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,654,995 (GRCm39) |
R1440G |
probably benign |
Het |
| Abca13 |
T |
A |
11: 9,278,168 (GRCm39) |
L3116Q |
probably damaging |
Het |
| Adgb |
G |
A |
10: 10,287,593 (GRCm39) |
H55Y |
probably damaging |
Het |
| AI182371 |
G |
T |
2: 34,974,717 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
T |
C |
10: 69,827,412 (GRCm39) |
|
probably benign |
Het |
| Ccdc127 |
G |
T |
13: 74,501,042 (GRCm39) |
G20W |
probably damaging |
Het |
| Ccdc149 |
G |
A |
5: 52,562,475 (GRCm39) |
Q184* |
probably null |
Het |
| Dnah11 |
T |
C |
12: 118,077,629 (GRCm39) |
E1288G |
possibly damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Evpl |
T |
C |
11: 116,113,640 (GRCm39) |
D1350G |
possibly damaging |
Het |
| Fasn |
T |
C |
11: 120,701,279 (GRCm39) |
T1990A |
probably damaging |
Het |
| Itga2 |
T |
A |
13: 114,973,061 (GRCm39) |
N1166I |
possibly damaging |
Het |
| Lmtk2 |
T |
A |
5: 144,085,175 (GRCm39) |
C216S |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,361,132 (GRCm39) |
D557G |
probably benign |
Het |
| Lrrc32 |
T |
C |
7: 98,148,039 (GRCm39) |
V273A |
probably benign |
Het |
| Nlrp4f |
C |
T |
13: 65,335,254 (GRCm39) |
|
probably null |
Het |
| Ntng2 |
T |
G |
2: 29,090,940 (GRCm39) |
M360L |
probably benign |
Het |
| Pik3c2b |
A |
G |
1: 133,003,559 (GRCm39) |
S504G |
probably benign |
Het |
| Ppfia4 |
A |
C |
1: 134,256,909 (GRCm39) |
L104R |
probably damaging |
Het |
| Raph1 |
A |
G |
1: 60,564,879 (GRCm39) |
S203P |
probably damaging |
Het |
| Rbl1 |
G |
A |
2: 157,011,918 (GRCm39) |
T679I |
probably benign |
Het |
| Rnase4 |
G |
T |
14: 51,342,486 (GRCm39) |
R70L |
probably benign |
Het |
| Rnf146 |
A |
C |
10: 29,223,528 (GRCm39) |
D119E |
probably damaging |
Het |
| Rrp1b |
A |
G |
17: 32,275,908 (GRCm39) |
H485R |
probably benign |
Het |
| Rwdd4a |
T |
A |
8: 48,000,998 (GRCm39) |
|
probably null |
Het |
| Scarf2 |
G |
A |
16: 17,624,351 (GRCm39) |
C552Y |
probably damaging |
Het |
| Skic2 |
G |
A |
17: 35,064,166 (GRCm39) |
R507* |
probably null |
Het |
| Sox10 |
T |
C |
15: 79,040,676 (GRCm39) |
N127S |
probably damaging |
Het |
| Speer4a1 |
A |
T |
5: 26,241,054 (GRCm39) |
|
probably null |
Het |
| Tars1 |
A |
T |
15: 11,394,427 (GRCm39) |
I70N |
probably damaging |
Het |
| Thsd7a |
C |
T |
6: 12,408,815 (GRCm39) |
V736M |
probably damaging |
Het |
| Timp3 |
G |
A |
10: 86,136,742 (GRCm39) |
V9M |
probably benign |
Het |
| Tnfrsf1a |
A |
T |
6: 125,333,911 (GRCm39) |
N55Y |
probably damaging |
Het |
| Trim43a |
G |
A |
9: 88,470,399 (GRCm39) |
V402I |
possibly damaging |
Het |
| Tshz2 |
A |
G |
2: 169,725,677 (GRCm39) |
D91G |
probably damaging |
Het |
| Ubac1 |
T |
C |
2: 25,895,418 (GRCm39) |
D345G |
possibly damaging |
Het |
| Usp4 |
G |
A |
9: 108,251,438 (GRCm39) |
V538I |
possibly damaging |
Het |
| Vmn2r19 |
A |
T |
6: 123,306,917 (GRCm39) |
Y475F |
possibly damaging |
Het |
| Vmn2r87 |
A |
T |
10: 130,308,396 (GRCm39) |
V614E |
probably damaging |
Het |
| Wfdc2 |
A |
T |
2: 164,404,706 (GRCm39) |
T21S |
probably benign |
Het |
| Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
| Zfp78 |
A |
G |
7: 6,381,277 (GRCm39) |
E109G |
probably damaging |
Het |
| Zfp873 |
C |
A |
10: 81,894,256 (GRCm39) |
A19D |
probably damaging |
Het |
| Zfp935 |
T |
A |
13: 62,602,293 (GRCm39) |
K302N |
probably damaging |
Het |
| Zfpm2 |
G |
A |
15: 40,965,114 (GRCm39) |
S401N |
probably benign |
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 |
|
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'- CTCAGTTCTTGAGCCAAGCTG -3'
(R):5'- AGTCAGTGGACACTCCTCTAAC -3'
Sequencing Primer
(F):5'- CAGTTCTTGAGCCAAGCTGTCTAAG -3'
(R):5'- CCTCTAACCAGAAAGCTCATTTGTTG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation