Incidental Mutation 'R2495:Cntrob'
| ID |
250999 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntrob
|
| Ensembl Gene |
ENSMUSG00000032782 |
| Gene Name |
centrobin, centrosomal BRCA2 interacting protein |
| Synonyms |
Nip2, 9830165K03Rik, Lip8 |
| MMRRC Submission |
040409-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
R2495 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
69190313-69214601 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 69213749 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 14
(P14T)
|
| 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: P14T
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000090651
Gene: ENSMUSG00000032782
AA Change: P14T
| 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 |
possibly damaging
Transcript: ENSMUST00000123176
AA Change: P14T
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142328
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125777
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176111
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140555
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176938
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
98% (63/64) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810062G17Rik |
T |
C |
3: 36,536,109 (GRCm39) |
F125S |
unknown |
Het |
| Abhd17c |
C |
T |
7: 83,759,884 (GRCm39) |
W290* |
probably null |
Het |
| Acsl5 |
A |
T |
19: 55,282,031 (GRCm39) |
K536* |
probably null |
Het |
| Adamts14 |
A |
T |
10: 61,034,749 (GRCm39) |
|
probably null |
Het |
| Agbl3 |
A |
G |
6: 34,823,699 (GRCm39) |
H788R |
probably damaging |
Het |
| Agrp |
T |
C |
8: 106,293,408 (GRCm39) |
N126D |
possibly damaging |
Het |
| Ambn |
T |
C |
5: 88,615,663 (GRCm39) |
I349T |
probably benign |
Het |
| Ank1 |
T |
C |
8: 23,622,280 (GRCm39) |
W1610R |
probably damaging |
Het |
| Aox3 |
T |
C |
1: 58,227,567 (GRCm39) |
L1224P |
probably damaging |
Het |
| Arhgef28 |
A |
T |
13: 98,165,881 (GRCm39) |
|
probably benign |
Het |
| Bcl11b |
G |
A |
12: 107,881,706 (GRCm39) |
H798Y |
possibly damaging |
Het |
| Capn11 |
T |
A |
17: 45,949,689 (GRCm39) |
M426L |
probably damaging |
Het |
| Cep95 |
A |
G |
11: 106,700,108 (GRCm39) |
K290E |
possibly damaging |
Het |
| Cic |
A |
G |
7: 24,991,201 (GRCm39) |
|
probably benign |
Het |
| Cnbd1 |
A |
T |
4: 18,860,579 (GRCm39) |
M389K |
probably damaging |
Het |
| Cnksr1 |
A |
T |
4: 133,959,473 (GRCm39) |
L387Q |
probably benign |
Het |
| Crmp1 |
G |
A |
5: 37,403,441 (GRCm39) |
|
probably null |
Het |
| Dido1 |
A |
G |
2: 180,331,181 (GRCm39) |
V89A |
probably benign |
Het |
| Dnah7a |
T |
A |
1: 53,645,040 (GRCm39) |
I999F |
probably damaging |
Het |
| Dsp |
T |
A |
13: 38,377,453 (GRCm39) |
L1746Q |
possibly damaging |
Het |
| Dst |
T |
C |
1: 34,238,454 (GRCm39) |
S3897P |
probably damaging |
Het |
| Fbxo10 |
A |
G |
4: 45,040,545 (GRCm39) |
F887L |
probably benign |
Het |
| Gm21961 |
T |
A |
15: 64,886,722 (GRCm39) |
H11L |
unknown |
Het |
| Gm4559 |
A |
T |
7: 141,827,557 (GRCm39) |
C182S |
unknown |
Het |
| Golga3 |
T |
A |
5: 110,355,462 (GRCm39) |
S939T |
probably damaging |
Het |
| Got2 |
A |
G |
8: 96,614,918 (GRCm39) |
S6P |
possibly damaging |
Het |
| Gpatch8 |
A |
T |
11: 102,369,307 (GRCm39) |
H1410Q |
probably damaging |
Het |
| Gpx5 |
T |
A |
13: 21,475,610 (GRCm39) |
T39S |
probably benign |
Het |
| Grin2b |
T |
C |
6: 135,710,180 (GRCm39) |
Y1122C |
probably damaging |
Het |
| Gsn |
A |
C |
2: 35,193,205 (GRCm39) |
N538T |
probably damaging |
Het |
| Helz2 |
A |
G |
2: 180,874,705 (GRCm39) |
S1930P |
probably damaging |
Het |
| Krt6b |
A |
T |
15: 101,586,757 (GRCm39) |
F286Y |
probably damaging |
Het |
| Lrriq1 |
G |
A |
10: 103,038,242 (GRCm39) |
R854C |
probably damaging |
Het |
| Mipol1 |
A |
T |
12: 57,507,776 (GRCm39) |
|
probably benign |
Het |
| Mmp19 |
A |
G |
10: 128,626,819 (GRCm39) |
|
probably benign |
Het |
| Msc |
T |
G |
1: 14,825,473 (GRCm39) |
Y167S |
probably benign |
Het |
| Mycbp2 |
T |
G |
14: 103,437,554 (GRCm39) |
K2103Q |
probably damaging |
Het |
| Myh11 |
C |
A |
16: 14,023,421 (GRCm39) |
D1586Y |
probably damaging |
Het |
| Nol6 |
A |
T |
4: 41,118,427 (GRCm39) |
D791E |
probably damaging |
Het |
| Pcm1 |
A |
G |
8: 41,746,616 (GRCm39) |
T1272A |
probably benign |
Het |
| Phgdh |
A |
G |
3: 98,247,105 (GRCm39) |
L15P |
probably damaging |
Het |
| Ptprk |
A |
T |
10: 28,351,074 (GRCm39) |
|
probably benign |
Het |
| Ralgapa2 |
G |
T |
2: 146,203,320 (GRCm39) |
D1091E |
possibly damaging |
Het |
| Rbbp8nl |
C |
A |
2: 179,920,895 (GRCm39) |
K496N |
probably null |
Het |
| Rbm26 |
T |
C |
14: 105,388,748 (GRCm39) |
|
probably benign |
Het |
| Rfx6 |
A |
C |
10: 51,602,771 (GRCm39) |
|
probably benign |
Het |
| Rras |
G |
A |
7: 44,667,488 (GRCm39) |
G17R |
probably damaging |
Het |
| Shisa6 |
G |
A |
11: 66,108,459 (GRCm39) |
P473S |
probably damaging |
Het |
| Slc9a3 |
A |
G |
13: 74,306,822 (GRCm39) |
K316E |
probably damaging |
Het |
| Slco1a7 |
C |
A |
6: 141,711,503 (GRCm39) |
M69I |
probably benign |
Het |
| Spata31d1a |
A |
G |
13: 59,849,807 (GRCm39) |
S774P |
possibly damaging |
Het |
| Spsb4 |
T |
C |
9: 96,877,840 (GRCm39) |
Y161C |
probably damaging |
Het |
| Taf3 |
G |
T |
2: 9,957,644 (GRCm39) |
N174K |
probably damaging |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Trnt1 |
T |
A |
6: 106,750,330 (GRCm39) |
V78E |
possibly damaging |
Het |
| Ubox5 |
A |
T |
2: 130,441,441 (GRCm39) |
C415* |
probably null |
Het |
| Ucn2 |
C |
T |
9: 108,815,477 (GRCm39) |
P80S |
possibly damaging |
Het |
| Vmn2r10 |
G |
A |
5: 109,143,961 (GRCm39) |
T663I |
probably damaging |
Het |
| Wdfy1 |
A |
T |
1: 79,685,222 (GRCm39) |
F337L |
probably null |
Het |
| Zfp287 |
A |
T |
11: 62,605,459 (GRCm39) |
C483S |
probably damaging |
Het |
| Zyg11b |
A |
G |
4: 108,101,921 (GRCm39) |
|
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 |
|
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 |
|
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'- CAGTTCTTGAGCCAAGCTGTC -3'
(R):5'- TCTGGAGTCAGTGGACACTC -3'
Sequencing Primer
(F):5'- CTGTCTAAGCCCTCGTTAGG -3'
(R):5'- GGAGTCAGTGGACACTCCTCTAAC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation