Incidental Mutation 'R2218:Brinp1'
ID |
241252 |
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 |
040220-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.147)
|
Stock # |
R2218 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
68679751-68872634 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 68680952 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 526
(L526P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030036
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030036]
|
AlphaFold |
Q920P3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030036
AA Change: L526P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000030036 Gene: ENSMUSG00000028351 AA Change: L526P
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: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abitram |
G |
T |
4: 56,802,693 (GRCm39) |
V26L |
probably damaging |
Het |
Acap3 |
A |
G |
4: 155,988,319 (GRCm39) |
|
probably null |
Het |
Appl2 |
G |
T |
10: 83,444,601 (GRCm39) |
F472L |
possibly damaging |
Het |
Atp13a5 |
A |
T |
16: 29,140,464 (GRCm39) |
V319D |
probably damaging |
Het |
Atxn2 |
T |
C |
5: 121,941,140 (GRCm39) |
Y56H |
probably damaging |
Het |
Cacna1d |
C |
T |
14: 29,845,048 (GRCm39) |
D679N |
probably damaging |
Het |
Canx |
C |
T |
11: 50,201,694 (GRCm39) |
V59I |
probably benign |
Het |
Drd2 |
T |
C |
9: 49,311,094 (GRCm39) |
V115A |
probably damaging |
Het |
Eml6 |
T |
A |
11: 29,768,907 (GRCm39) |
Q746L |
probably damaging |
Het |
F13b |
G |
T |
1: 139,434,582 (GRCm39) |
S116I |
probably benign |
Het |
Flt4 |
T |
A |
11: 49,515,555 (GRCm39) |
S48T |
probably benign |
Het |
Gcn1 |
C |
A |
5: 115,757,720 (GRCm39) |
S2475Y |
probably benign |
Het |
Gls2 |
T |
C |
10: 128,040,583 (GRCm39) |
L328P |
probably damaging |
Het |
Gm7535 |
A |
G |
17: 18,131,936 (GRCm39) |
|
probably benign |
Het |
Htr3a |
T |
C |
9: 48,819,911 (GRCm39) |
Y73C |
probably damaging |
Het |
Iapp |
G |
A |
6: 142,249,096 (GRCm39) |
A50T |
probably benign |
Het |
Il10ra |
T |
C |
9: 45,176,914 (GRCm39) |
D137G |
probably benign |
Het |
Krt35 |
T |
C |
11: 99,986,988 (GRCm39) |
S9G |
probably null |
Het |
Lamc2 |
T |
A |
1: 153,006,525 (GRCm39) |
R875S |
probably benign |
Het |
Mcoln1 |
C |
A |
8: 3,555,813 (GRCm39) |
T36K |
possibly damaging |
Het |
Muc6 |
T |
C |
7: 141,233,227 (GRCm39) |
H885R |
probably benign |
Het |
Nsrp1 |
A |
T |
11: 76,936,587 (GRCm39) |
Y536* |
probably null |
Het |
Or10al4 |
A |
T |
17: 38,037,145 (GRCm39) |
I77F |
probably damaging |
Het |
Polr2a |
A |
G |
11: 69,633,511 (GRCm39) |
|
probably null |
Het |
Pp2d1 |
C |
A |
17: 53,822,482 (GRCm39) |
V195L |
probably benign |
Het |
Rag1 |
T |
C |
2: 101,474,491 (GRCm39) |
H217R |
probably benign |
Het |
Ramp2 |
A |
G |
11: 101,138,457 (GRCm39) |
E86G |
probably benign |
Het |
Rcbtb2 |
T |
C |
14: 73,416,005 (GRCm39) |
|
probably null |
Het |
Sema5a |
A |
T |
15: 32,631,455 (GRCm39) |
I613F |
probably damaging |
Het |
Sgk1 |
C |
T |
10: 21,872,500 (GRCm39) |
R171W |
probably damaging |
Het |
Slc39a11 |
C |
A |
11: 113,450,376 (GRCm39) |
|
probably null |
Het |
Slc47a2 |
T |
C |
11: 61,204,497 (GRCm39) |
T285A |
probably benign |
Het |
Timd2 |
T |
A |
11: 46,577,844 (GRCm39) |
I96L |
probably damaging |
Het |
Tkt |
G |
T |
14: 30,289,018 (GRCm39) |
|
probably null |
Het |
Tle1 |
A |
T |
4: 72,117,556 (GRCm39) |
F35I |
possibly damaging |
Het |
Tmem64 |
T |
C |
4: 15,266,658 (GRCm39) |
I236T |
possibly damaging |
Het |
Ttll13 |
A |
G |
7: 79,902,250 (GRCm39) |
K109R |
probably damaging |
Het |
Virma |
T |
C |
4: 11,544,924 (GRCm39) |
S1628P |
probably damaging |
Het |
Zan |
C |
A |
5: 137,408,568 (GRCm39) |
|
probably benign |
Het |
Zbtb22 |
T |
G |
17: 34,136,939 (GRCm39) |
D361E |
probably damaging |
Het |
Zfp608 |
T |
C |
18: 55,120,756 (GRCm39) |
N277S |
probably benign |
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 |
R2262:Brinp1
|
UTSW |
4 |
68,747,591 (GRCm39) |
missense |
probably damaging |
1.00 |
R2370:Brinp1
|
UTSW |
4 |
68,681,184 (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'- AACGAGGGTAGCCAAATTCC -3'
(R):5'- TACAAGCTGTATAGAGGCCGC -3'
Sequencing Primer
(F):5'- CCCAAAGGGCATGTTCCAG -3'
(R):5'- CTGTATAGAGGCCGCTGTGAAC -3'
|
Posted On |
2014-10-15 |