Incidental Mutation 'R2370:Brinp1'
ID |
247489 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Brinp1
|
Ensembl Gene |
ENSMUSG00000028351 |
Gene Name |
bone morphogenic protein/retinoic acid inducible neural specific 1 |
Synonyms |
Fam5a, Dbc1, Dbccr1 |
MMRRC Submission |
040350-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.109)
|
Stock # |
R2370 (G1)
|
Quality Score |
204 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
68679751-68872634 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 68681184 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 449
(S449P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030036
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030036]
|
AlphaFold |
Q920P3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030036
AA Change: S449P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000030036 Gene: ENSMUSG00000028351 AA Change: S449P
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
MACPF
|
72 |
251 |
2.35e-46 |
SMART |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 92.8%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is located within a chromosomal region that shows loss of heterozygosity in some bladder cancers. It contains a 5' CpG island that may be a frequent target of hypermethylation, and it may undergo hypermethylation-based silencing in some bladder cancers. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous null mice show increased adult neurogenesis in the subgranular zone of the dentate gyrus, altered neuronal differentiation in the hippocampus, and behavioral anomalies such as hyperactivity, reduced anxiety-like behaviors, poor social interaction, and a slight deficit in working memory. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
Abca13 |
A |
G |
11: 9,206,185 (GRCm39) |
T162A |
possibly damaging |
Het |
Adamts9 |
T |
A |
6: 92,837,184 (GRCm39) |
D578V |
probably damaging |
Het |
Atp6v1a |
T |
C |
16: 43,927,403 (GRCm39) |
T295A |
probably benign |
Het |
Ccdc40 |
A |
G |
11: 119,153,943 (GRCm39) |
T1072A |
probably benign |
Het |
Chil4 |
C |
A |
3: 106,121,616 (GRCm39) |
E78* |
probably null |
Het |
Cul7 |
A |
G |
17: 46,972,567 (GRCm39) |
Y1250C |
probably damaging |
Het |
Dock3 |
T |
C |
9: 106,829,554 (GRCm39) |
D1120G |
probably damaging |
Het |
Gfod1 |
A |
G |
13: 43,354,621 (GRCm39) |
M118T |
probably benign |
Het |
Ints5 |
A |
G |
19: 8,874,143 (GRCm39) |
T701A |
probably benign |
Het |
Map4k2 |
G |
T |
19: 6,391,958 (GRCm39) |
E91* |
probably null |
Het |
Mast4 |
T |
A |
13: 102,910,695 (GRCm39) |
E457D |
probably damaging |
Het |
Mettl4 |
T |
C |
17: 95,040,576 (GRCm39) |
D404G |
probably damaging |
Het |
Mgat4a |
A |
G |
1: 37,503,614 (GRCm39) |
F58L |
probably damaging |
Het |
Myh4 |
A |
G |
11: 67,146,454 (GRCm39) |
K1476E |
probably damaging |
Het |
Myl7 |
T |
C |
11: 5,846,684 (GRCm39) |
E175G |
probably damaging |
Het |
Myo18a |
A |
G |
11: 77,668,596 (GRCm39) |
E152G |
probably benign |
Het |
Ncan |
G |
A |
8: 70,565,463 (GRCm39) |
T187I |
probably benign |
Het |
Nfatc3 |
A |
G |
8: 106,835,087 (GRCm39) |
Y803C |
probably damaging |
Het |
Nlrp4f |
T |
C |
13: 65,338,660 (GRCm39) |
Y659C |
probably damaging |
Het |
Noxred1 |
T |
C |
12: 87,273,820 (GRCm39) |
T74A |
probably benign |
Het |
Ntrk2 |
A |
T |
13: 59,202,248 (GRCm39) |
M619L |
probably benign |
Het |
Or5w18 |
A |
T |
2: 87,633,159 (GRCm39) |
N142I |
probably benign |
Het |
Orc4 |
A |
G |
2: 48,823,111 (GRCm39) |
V120A |
probably benign |
Het |
Polq |
T |
A |
16: 36,894,301 (GRCm39) |
Y2037N |
probably damaging |
Het |
Rimbp2 |
A |
G |
5: 128,880,908 (GRCm39) |
C160R |
probably damaging |
Het |
Rps6ka4 |
T |
C |
19: 6,807,468 (GRCm39) |
S721G |
possibly damaging |
Het |
Skap2 |
C |
T |
6: 51,898,310 (GRCm39) |
R140Q |
probably damaging |
Het |
Srprb |
C |
T |
9: 103,074,755 (GRCm39) |
R838H |
probably damaging |
Het |
|
Other mutations in Brinp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00818:Brinp1
|
APN |
4 |
68,681,084 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01024:Brinp1
|
APN |
4 |
68,680,731 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02048:Brinp1
|
APN |
4 |
68,681,379 (GRCm39) |
missense |
probably benign |
|
IGL02115:Brinp1
|
APN |
4 |
68,680,635 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02332:Brinp1
|
APN |
4 |
68,823,121 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03115:Brinp1
|
APN |
4 |
68,822,973 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02796:Brinp1
|
UTSW |
4 |
68,680,427 (GRCm39) |
missense |
probably damaging |
1.00 |
R0382:Brinp1
|
UTSW |
4 |
68,680,545 (GRCm39) |
missense |
possibly damaging |
0.68 |
R0468:Brinp1
|
UTSW |
4 |
68,681,013 (GRCm39) |
missense |
probably damaging |
1.00 |
R1141:Brinp1
|
UTSW |
4 |
68,711,215 (GRCm39) |
missense |
probably benign |
0.00 |
R1164:Brinp1
|
UTSW |
4 |
68,716,928 (GRCm39) |
missense |
probably benign |
|
R1178:Brinp1
|
UTSW |
4 |
68,680,790 (GRCm39) |
missense |
probably damaging |
1.00 |
R1545:Brinp1
|
UTSW |
4 |
68,681,192 (GRCm39) |
missense |
possibly damaging |
0.67 |
R1672:Brinp1
|
UTSW |
4 |
68,747,520 (GRCm39) |
splice site |
probably null |
|
R1998:Brinp1
|
UTSW |
4 |
68,680,790 (GRCm39) |
missense |
probably damaging |
1.00 |
R2218:Brinp1
|
UTSW |
4 |
68,680,952 (GRCm39) |
missense |
probably damaging |
1.00 |
R2262:Brinp1
|
UTSW |
4 |
68,747,591 (GRCm39) |
missense |
probably damaging |
1.00 |
R4542:Brinp1
|
UTSW |
4 |
68,680,329 (GRCm39) |
missense |
probably benign |
0.00 |
R4617:Brinp1
|
UTSW |
4 |
68,681,198 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4864:Brinp1
|
UTSW |
4 |
68,717,123 (GRCm39) |
missense |
probably damaging |
1.00 |
R5287:Brinp1
|
UTSW |
4 |
68,711,201 (GRCm39) |
missense |
probably benign |
0.04 |
R5403:Brinp1
|
UTSW |
4 |
68,711,201 (GRCm39) |
missense |
probably benign |
0.04 |
R5932:Brinp1
|
UTSW |
4 |
68,711,178 (GRCm39) |
missense |
probably benign |
0.00 |
R7106:Brinp1
|
UTSW |
4 |
68,747,615 (GRCm39) |
missense |
probably benign |
0.36 |
R7127:Brinp1
|
UTSW |
4 |
68,711,260 (GRCm39) |
missense |
probably benign |
0.00 |
R7398:Brinp1
|
UTSW |
4 |
68,759,591 (GRCm39) |
missense |
probably benign |
|
R7917:Brinp1
|
UTSW |
4 |
68,823,190 (GRCm39) |
start codon destroyed |
probably null |
0.04 |
R8164:Brinp1
|
UTSW |
4 |
68,681,158 (GRCm39) |
nonsense |
probably null |
|
R8369:Brinp1
|
UTSW |
4 |
68,716,936 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8487:Brinp1
|
UTSW |
4 |
68,747,692 (GRCm39) |
missense |
probably damaging |
1.00 |
R9124:Brinp1
|
UTSW |
4 |
68,747,582 (GRCm39) |
missense |
probably damaging |
1.00 |
R9253:Brinp1
|
UTSW |
4 |
68,711,083 (GRCm39) |
missense |
possibly damaging |
0.86 |
Z1176:Brinp1
|
UTSW |
4 |
68,716,988 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TATCCAGGCGAATCTCATTGC -3'
(R):5'- TCACAGGACAATTCAACAGTGG -3'
Sequencing Primer
(F):5'- CCAGGCGAATCTCATTGCTGATG -3'
(R):5'- GACAATTCAACAGTGGCTTGC -3'
|
Posted On |
2014-11-11 |