Incidental Mutation 'IGL00843:Bpnt2'
ID |
11458 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Bpnt2
|
Ensembl Gene |
ENSMUSG00000066324 |
Gene Name |
3'(2'), 5'-bisphosphate nucleotidase 2 |
Synonyms |
gPAPP, Impad1, 1110001C20Rik, Jaws |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00843
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
4762484-4793306 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 4776308 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082013
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084949]
|
AlphaFold |
Q80V26 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000084949
|
SMART Domains |
Protein: ENSMUSP00000082013 Gene: ENSMUSG00000066324
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
Pfam:Inositol_P
|
60 |
353 |
1.5e-42 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the inositol monophosphatase family. The encoded protein is localized to the Golgi apparatus and catalyzes the hydrolysis of phosphoadenosine phosphate (PAP) to adenosine monophosphate (AMP). Mutations in this gene are a cause of GRAPP type chondrodysplasia with joint dislocations, and a pseudogene of this gene is located on the long arm of chromosome 1. [provided by RefSeq, Dec 2011] PHENOTYPE: Homozygous null mutants are neonatal lethal with growth retardation. Mutant embryo shows craniofacial abnormalities and shortened limbs. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bglap |
A |
G |
3: 88,291,657 (GRCm39) |
|
probably null |
Het |
Clcn2 |
T |
C |
16: 20,522,391 (GRCm39) |
T772A |
probably benign |
Het |
Cldn18 |
A |
T |
9: 99,580,874 (GRCm39) |
F125I |
probably benign |
Het |
Ehhadh |
A |
G |
16: 21,581,379 (GRCm39) |
S538P |
possibly damaging |
Het |
Ets2 |
T |
G |
16: 95,510,837 (GRCm39) |
F32V |
probably benign |
Het |
F5 |
G |
A |
1: 164,039,360 (GRCm39) |
R1990Q |
probably benign |
Het |
Fetub |
A |
G |
16: 22,748,379 (GRCm39) |
|
probably benign |
Het |
Hecw1 |
C |
T |
13: 14,422,158 (GRCm39) |
E983K |
probably benign |
Het |
Hemgn |
A |
G |
4: 46,396,240 (GRCm39) |
M332T |
probably benign |
Het |
Hmcn1 |
A |
G |
1: 150,486,464 (GRCm39) |
I4314T |
possibly damaging |
Het |
Lonrf2 |
C |
A |
1: 38,851,616 (GRCm39) |
|
probably benign |
Het |
Lrrc9 |
T |
C |
12: 72,510,191 (GRCm39) |
I430T |
possibly damaging |
Het |
Lrrk2 |
T |
C |
15: 91,641,261 (GRCm39) |
V1606A |
possibly damaging |
Het |
Oog2 |
G |
T |
4: 143,921,742 (GRCm39) |
L217F |
probably damaging |
Het |
Plxnc1 |
T |
C |
10: 94,683,411 (GRCm39) |
H791R |
probably benign |
Het |
Prdm2 |
G |
A |
4: 142,860,884 (GRCm39) |
S802L |
probably damaging |
Het |
Prss32 |
T |
A |
17: 24,076,336 (GRCm39) |
L233Q |
probably damaging |
Het |
Rapgef6 |
T |
A |
11: 54,582,099 (GRCm39) |
V1337E |
probably benign |
Het |
Slc15a3 |
T |
A |
19: 10,830,627 (GRCm39) |
M326K |
probably null |
Het |
Slc25a54 |
A |
T |
3: 109,020,176 (GRCm39) |
T397S |
possibly damaging |
Het |
Slfn3 |
C |
T |
11: 83,104,257 (GRCm39) |
T376M |
probably damaging |
Het |
Stradb |
T |
A |
1: 59,033,568 (GRCm39) |
D410E |
probably benign |
Het |
Tdh |
T |
C |
14: 63,733,213 (GRCm39) |
T178A |
probably damaging |
Het |
Tspan12 |
T |
A |
6: 21,851,081 (GRCm39) |
|
probably benign |
Het |
Ube2b |
A |
T |
11: 51,886,202 (GRCm39) |
D50E |
probably benign |
Het |
Zranb1 |
A |
C |
7: 132,551,622 (GRCm39) |
H117P |
probably benign |
Het |
|
Other mutations in Bpnt2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02609:Bpnt2
|
APN |
4 |
4,767,763 (GRCm39) |
nonsense |
probably null |
|
R1651:Bpnt2
|
UTSW |
4 |
4,792,737 (GRCm39) |
missense |
probably damaging |
1.00 |
R2571:Bpnt2
|
UTSW |
4 |
4,778,192 (GRCm39) |
critical splice donor site |
probably null |
|
R4288:Bpnt2
|
UTSW |
4 |
4,778,231 (GRCm39) |
missense |
probably damaging |
1.00 |
R4603:Bpnt2
|
UTSW |
4 |
4,767,878 (GRCm39) |
missense |
probably damaging |
1.00 |
R5333:Bpnt2
|
UTSW |
4 |
4,767,963 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5365:Bpnt2
|
UTSW |
4 |
4,776,385 (GRCm39) |
missense |
probably damaging |
1.00 |
R7275:Bpnt2
|
UTSW |
4 |
4,792,962 (GRCm39) |
missense |
probably damaging |
0.98 |
R7599:Bpnt2
|
UTSW |
4 |
4,778,207 (GRCm39) |
missense |
probably damaging |
1.00 |
R7756:Bpnt2
|
UTSW |
4 |
4,769,385 (GRCm39) |
missense |
probably damaging |
1.00 |
R8480:Bpnt2
|
UTSW |
4 |
4,769,376 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2012-12-06 |