Incidental Mutation 'R9259:Cntrob'
| ID |
702115 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntrob
|
| Ensembl Gene |
ENSMUSG00000032782 |
| Gene Name |
centrobin, centrosomal BRCA2 interacting protein |
| Synonyms |
Nip2, 9830165K03Rik, Lip8 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
R9259 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
69190313-69214601 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 69211665 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 186
(D186E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090651
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060956]
[ENSMUST00000092973]
[ENSMUST00000102601]
[ENSMUST00000102602]
[ENSMUST00000108662]
[ENSMUST00000123176]
|
| AlphaFold |
Q8CB62 |
| 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: D186E
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000090651
Gene: ENSMUSG00000032782
AA Change: D186E
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176938
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (65/65) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot6 |
A |
G |
12: 84,155,816 (GRCm39) |
I255V |
possibly damaging |
Het |
| Adcy8 |
A |
T |
15: 64,576,604 (GRCm39) |
I986N |
probably damaging |
Het |
| Agr2 |
T |
A |
12: 36,053,863 (GRCm39) |
M164K |
probably damaging |
Het |
| Akap11 |
G |
A |
14: 78,749,949 (GRCm39) |
H813Y |
|
Het |
| Alas1 |
A |
T |
9: 106,118,835 (GRCm39) |
S195T |
probably benign |
Het |
| Aldoart1 |
T |
C |
4: 72,770,680 (GRCm39) |
T43A |
probably benign |
Het |
| Alms1 |
A |
G |
6: 85,644,873 (GRCm39) |
D2537G |
possibly damaging |
Het |
| Alpk3 |
A |
G |
7: 80,743,302 (GRCm39) |
T1040A |
probably damaging |
Het |
| Ankrd16 |
T |
C |
2: 11,784,532 (GRCm39) |
I120T |
probably damaging |
Het |
| Anks4b |
A |
G |
7: 119,773,278 (GRCm39) |
E46G |
probably benign |
Het |
| Ap3d1 |
A |
T |
10: 80,559,661 (GRCm39) |
V199E |
probably damaging |
Het |
| Atp1a3 |
A |
G |
7: 24,696,956 (GRCm39) |
S236P |
probably damaging |
Het |
| Atp5mc2 |
T |
A |
15: 102,571,561 (GRCm39) |
N110I |
probably damaging |
Het |
| Cabin1 |
A |
G |
10: 75,582,576 (GRCm39) |
M280T |
probably benign |
Het |
| Cdc5l |
T |
C |
17: 45,736,817 (GRCm39) |
T134A |
possibly damaging |
Het |
| Clec4n |
C |
A |
6: 123,212,424 (GRCm39) |
P80Q |
probably damaging |
Het |
| Clip3 |
A |
G |
7: 29,998,375 (GRCm39) |
K274E |
probably benign |
Het |
| Cplane1 |
T |
C |
15: 8,232,787 (GRCm39) |
V1102A |
possibly damaging |
Het |
| Dcun1d3 |
A |
G |
7: 119,457,052 (GRCm39) |
V220A |
probably benign |
Het |
| Emsy |
A |
T |
7: 98,242,757 (GRCm39) |
N1127K |
probably benign |
Het |
| Entpd2 |
C |
T |
2: 25,288,614 (GRCm39) |
S206L |
probably damaging |
Het |
| Fgd4 |
T |
C |
16: 16,295,325 (GRCm39) |
E218G |
probably damaging |
Het |
| Fkbp2 |
G |
T |
19: 6,955,960 (GRCm39) |
Q82K |
probably benign |
Het |
| Gpr161 |
T |
C |
1: 165,138,025 (GRCm39) |
Y204H |
probably damaging |
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| Gstt2 |
C |
T |
10: 75,669,511 (GRCm39) |
D59N |
possibly damaging |
Het |
| Havcr1 |
A |
T |
11: 46,661,318 (GRCm39) |
D206V |
probably damaging |
Het |
| Hoxb9 |
G |
A |
11: 96,162,762 (GRCm39) |
G132D |
probably damaging |
Het |
| Ifi44 |
C |
T |
3: 151,454,875 (GRCm39) |
V117M |
possibly damaging |
Het |
| Inhbe |
A |
G |
10: 127,186,844 (GRCm39) |
F112S |
probably damaging |
Het |
| Iqgap2 |
A |
T |
13: 95,766,561 (GRCm39) |
Y1481N |
probably damaging |
Het |
| Irak4 |
A |
T |
15: 94,456,726 (GRCm39) |
H303L |
probably damaging |
Het |
| Kdm5d |
A |
G |
Y: 942,640 (GRCm39) |
E1435G |
possibly damaging |
Het |
| Kifc1 |
G |
T |
17: 34,101,165 (GRCm39) |
T599K |
possibly damaging |
Het |
| Klhl38 |
T |
C |
15: 58,186,471 (GRCm39) |
E86G |
probably benign |
Het |
| Mcub |
G |
C |
3: 129,720,070 (GRCm39) |
T141R |
probably benign |
Het |
| Moxd2 |
A |
T |
6: 40,860,969 (GRCm39) |
V274D |
probably damaging |
Het |
| Nol6 |
C |
T |
4: 41,118,229 (GRCm39) |
V803M |
possibly damaging |
Het |
| Or8b51 |
C |
T |
9: 38,569,642 (GRCm39) |
|
probably benign |
Het |
| Ovgp1 |
T |
C |
3: 105,893,883 (GRCm39) |
|
probably benign |
Het |
| Pbld1 |
A |
G |
10: 62,897,436 (GRCm39) |
T46A |
possibly damaging |
Het |
| Peli3 |
T |
C |
19: 4,984,486 (GRCm39) |
D192G |
probably benign |
Het |
| Perm1 |
C |
T |
4: 156,303,607 (GRCm39) |
T717I |
probably benign |
Het |
| Pim1 |
G |
A |
17: 29,710,181 (GRCm39) |
A22T |
probably benign |
Het |
| Pkp2 |
C |
T |
16: 16,043,714 (GRCm39) |
P156L |
probably damaging |
Het |
| Ppwd1 |
G |
A |
13: 104,359,612 (GRCm39) |
R130C |
probably damaging |
Het |
| Prdm16 |
C |
A |
4: 154,430,525 (GRCm39) |
W321L |
possibly damaging |
Het |
| Ptprd |
T |
A |
4: 75,990,200 (GRCm39) |
D504V |
probably damaging |
Het |
| Pusl1 |
T |
C |
4: 155,975,639 (GRCm39) |
T65A |
probably damaging |
Het |
| Rtcb |
A |
G |
10: 85,774,925 (GRCm39) |
I490T |
probably damaging |
Het |
| Sec31b |
G |
T |
19: 44,505,855 (GRCm39) |
L967I |
probably damaging |
Het |
| Sec63 |
A |
C |
10: 42,699,937 (GRCm39) |
M666L |
probably benign |
Het |
| Sh3rf1 |
G |
C |
8: 61,806,838 (GRCm39) |
A379P |
probably benign |
Het |
| Slc7a12 |
T |
A |
3: 14,546,376 (GRCm39) |
L174I |
probably damaging |
Het |
| Sptbn4 |
C |
T |
7: 27,067,124 (GRCm39) |
S1935N |
possibly damaging |
Het |
| Susd6 |
A |
T |
12: 80,898,030 (GRCm39) |
Q55L |
probably benign |
Het |
| Tecpr2 |
A |
G |
12: 110,897,867 (GRCm39) |
E373G |
possibly damaging |
Het |
| Tent5c |
T |
C |
3: 100,379,640 (GRCm39) |
Y372C |
probably damaging |
Het |
| Tm6sf2 |
A |
T |
8: 70,530,585 (GRCm39) |
I222L |
probably benign |
Het |
| Tsc22d1 |
T |
A |
14: 76,654,484 (GRCm39) |
V321E |
probably damaging |
Het |
| Tspoap1 |
A |
G |
11: 87,670,350 (GRCm39) |
N172S |
|
Het |
| Unc13d |
AATGCCTCCCATGCC |
AATGCCTCCCATGCCTCCCATGCC |
11: 115,958,998 (GRCm39) |
|
probably benign |
Het |
| Vcan |
G |
A |
13: 89,838,989 (GRCm39) |
S2185F |
probably damaging |
Het |
| Wapl |
G |
T |
14: 34,463,052 (GRCm39) |
V1131L |
probably benign |
Het |
| Zfp658 |
A |
G |
7: 43,224,280 (GRCm39) |
M852V |
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 |
|
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 |
|
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'- CGGGGATCTGAGAACTCTAAGC -3'
(R):5'- GGGTCTCAAAGTTTTGCCCAG -3'
Sequencing Primer
(F):5'- TCTGAGAACTCTAAGCAGGAGTGTG -3'
(R):5'- AAAGTTTTGCCCAGTCTTGAC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation