Incidental Mutation 'R1749:Cntrob'
| ID |
194210 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntrob
|
| Ensembl Gene |
ENSMUSG00000032782 |
| Gene Name |
centrobin, centrosomal BRCA2 interacting protein |
| Synonyms |
Nip2, 9830165K03Rik, Lip8 |
| MMRRC Submission |
039781-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.156)
|
| Stock # |
R1749 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
69190313-69214601 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 69213700 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 30
(V30E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122205
(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 |
possibly damaging
Transcript: ENSMUST00000092973
AA Change: V30E
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000090651
Gene: ENSMUSG00000032782
AA Change: V30E
| 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 damaging
Transcript: ENSMUST00000123176
AA Change: V30E
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125777
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176111
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142328
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140555
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176938
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 93.0%
|
| Validation Efficiency |
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak5 |
A |
T |
3: 152,178,557 (GRCm39) |
M486K |
probably damaging |
Het |
| Arhgef6 |
T |
C |
X: 56,383,922 (GRCm39) |
M5V |
probably benign |
Het |
| Aspn |
A |
T |
13: 49,705,261 (GRCm39) |
D41V |
probably benign |
Het |
| Atp8a2 |
C |
A |
14: 60,097,623 (GRCm39) |
E802* |
probably null |
Het |
| Barhl2 |
T |
C |
5: 106,605,572 (GRCm39) |
S46G |
unknown |
Het |
| Cacna1e |
A |
G |
1: 154,319,746 (GRCm39) |
V1318A |
probably damaging |
Het |
| Ccdc69 |
T |
C |
11: 54,941,979 (GRCm39) |
R176G |
probably null |
Het |
| Cdan1 |
T |
C |
2: 120,560,280 (GRCm39) |
N321S |
probably damaging |
Het |
| Cep85l |
T |
C |
10: 53,154,250 (GRCm39) |
D681G |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 47,449,056 (GRCm39) |
G3646E |
probably damaging |
Het |
| Cx3cl1 |
A |
G |
8: 95,506,789 (GRCm39) |
|
probably null |
Het |
| Dab1 |
A |
T |
4: 104,185,495 (GRCm39) |
|
probably benign |
Het |
| Dennd2c |
T |
C |
3: 103,039,352 (GRCm39) |
S167P |
possibly damaging |
Het |
| Dock2 |
A |
G |
11: 34,182,767 (GRCm39) |
|
probably null |
Het |
| Dok3 |
GCC |
GC |
13: 55,672,168 (GRCm39) |
|
probably null |
Het |
| Ebf1 |
A |
T |
11: 44,798,835 (GRCm39) |
I287L |
possibly damaging |
Het |
| Eci1 |
G |
A |
17: 24,645,721 (GRCm39) |
|
probably null |
Het |
| Emb |
T |
A |
13: 117,386,242 (GRCm39) |
I133N |
possibly damaging |
Het |
| Fam91a1 |
A |
G |
15: 58,298,443 (GRCm39) |
I184V |
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,183,348 (GRCm39) |
D1779G |
probably benign |
Het |
| Fgfr4 |
T |
A |
13: 55,315,605 (GRCm39) |
|
probably null |
Het |
| Flt1 |
G |
A |
5: 147,591,929 (GRCm39) |
T511M |
probably benign |
Het |
| Gys1 |
T |
C |
7: 45,089,456 (GRCm39) |
L205P |
probably damaging |
Het |
| Hepacam2 |
A |
G |
6: 3,483,379 (GRCm39) |
V134A |
probably damaging |
Het |
| Htr3a |
A |
G |
9: 48,812,233 (GRCm39) |
V291A |
probably damaging |
Het |
| Ip6k3 |
T |
A |
17: 27,364,053 (GRCm39) |
T332S |
probably benign |
Het |
| Klra6 |
A |
T |
6: 129,995,915 (GRCm39) |
F148I |
probably damaging |
Het |
| Kntc1 |
T |
C |
5: 123,927,162 (GRCm39) |
S1206P |
probably benign |
Het |
| Mbnl2 |
T |
A |
14: 120,626,462 (GRCm39) |
C231S |
probably damaging |
Het |
| Mdn1 |
A |
T |
4: 32,773,952 (GRCm39) |
D5521V |
probably damaging |
Het |
| Mylip |
G |
A |
13: 45,557,946 (GRCm39) |
V52M |
possibly damaging |
Het |
| Naip6 |
A |
G |
13: 100,444,763 (GRCm39) |
S232P |
probably benign |
Het |
| Ndc80 |
T |
C |
17: 71,808,550 (GRCm39) |
K504R |
probably benign |
Het |
| Nf2 |
T |
C |
11: 4,753,694 (GRCm39) |
N220S |
possibly damaging |
Het |
| Nfasc |
T |
A |
1: 132,539,370 (GRCm39) |
I393F |
probably damaging |
Het |
| Or12d2 |
T |
C |
17: 37,624,952 (GRCm39) |
T108A |
probably benign |
Het |
| Pabpc1 |
T |
C |
15: 36,608,584 (GRCm39) |
Y56C |
probably damaging |
Het |
| Pcca |
A |
G |
14: 122,938,542 (GRCm39) |
K498R |
probably damaging |
Het |
| Phldb1 |
A |
G |
9: 44,627,045 (GRCm39) |
S467P |
probably damaging |
Het |
| Ptprn2 |
T |
C |
12: 116,544,048 (GRCm39) |
S47P |
probably benign |
Het |
| Rtca |
A |
T |
3: 116,291,293 (GRCm39) |
I229N |
possibly damaging |
Het |
| Sh3rf2 |
T |
A |
18: 42,286,359 (GRCm39) |
S617R |
probably damaging |
Het |
| Slc14a2 |
T |
G |
18: 78,190,295 (GRCm39) |
T885P |
possibly damaging |
Het |
| Sp100 |
A |
C |
1: 85,627,357 (GRCm39) |
T417P |
possibly damaging |
Het |
| Tat |
A |
T |
8: 110,722,846 (GRCm39) |
N303Y |
probably damaging |
Het |
| Tet2 |
A |
G |
3: 133,185,892 (GRCm39) |
|
probably null |
Het |
| Tln2 |
C |
T |
9: 67,193,796 (GRCm39) |
A1773T |
probably benign |
Het |
| Tnks1bp1 |
A |
G |
2: 84,893,411 (GRCm39) |
S1113G |
probably benign |
Het |
| Tspear |
G |
A |
10: 77,705,507 (GRCm39) |
E302K |
probably benign |
Het |
| Tulp3 |
A |
G |
6: 128,314,722 (GRCm39) |
L23P |
probably damaging |
Het |
| Vti1b |
T |
C |
12: 79,211,807 (GRCm39) |
E42G |
probably damaging |
Het |
| Yeats2 |
G |
T |
16: 20,005,018 (GRCm39) |
E333* |
probably null |
Het |
| Zfp455 |
T |
G |
13: 67,355,073 (GRCm39) |
C114G |
probably damaging |
Het |
| Zfp532 |
G |
A |
18: 65,756,555 (GRCm39) |
V163M |
possibly damaging |
Het |
| Zfp940 |
A |
T |
7: 29,544,952 (GRCm39) |
C318* |
probably null |
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 |
|
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 |
|
|
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'- GCATGAAAGCCCTGTGTGCTTG -3'
(R):5'- AGTCAGTGGACACTCCTCTAACCAG -3'
Sequencing Primer
(F):5'- GCCCAGGAACCTAATGCTTTC -3'
(R):5'- GCTCATTTGTTGAGGACCCAAAG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation