Incidental Mutation 'IGL00930:Pitpnm2'
| ID |
27440 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pitpnm2
|
| Ensembl Gene |
ENSMUSG00000029406 |
| Gene Name |
phosphatidylinositol transfer protein, membrane-associated 2 |
| Synonyms |
RDGBA2, NIR3, Rdgb2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00930
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
124256753-124387823 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 124259726 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142496
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031351]
[ENSMUST00000086123]
[ENSMUST00000122394]
[ENSMUST00000145667]
[ENSMUST00000149835]
[ENSMUST00000161938]
[ENSMUST00000161273]
[ENSMUST00000162812]
[ENSMUST00000196401]
|
| AlphaFold |
Q6ZPQ6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031351
|
| SMART Domains |
Protein: ENSMUSP00000031351
Gene: ENSMUSG00000029404
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SR-25
|
7 |
227 |
2.7e-104 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086123
|
| SMART Domains |
Protein: ENSMUSP00000083292
Gene: ENSMUSG00000029406
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IP_trans
|
1 |
253 |
6.1e-132 |
PFAM |
|
low complexity region
|
298 |
319 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
344 |
N/A |
INTRINSIC |
|
low complexity region
|
507 |
515 |
N/A |
INTRINSIC |
|
Blast:DDHD
|
548 |
570 |
6e-7 |
BLAST |
|
low complexity region
|
571 |
589 |
N/A |
INTRINSIC |
|
low complexity region
|
608 |
630 |
N/A |
INTRINSIC |
|
low complexity region
|
682 |
689 |
N/A |
INTRINSIC |
|
DDHD
|
701 |
895 |
1.66e-98 |
SMART |
|
LNS2
|
1040 |
1171 |
3.22e-55 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122394
|
| SMART Domains |
Protein: ENSMUSP00000112506
Gene: ENSMUSG00000029404
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SR-25
|
2 |
199 |
6.3e-85 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145667
|
| SMART Domains |
Protein: ENSMUSP00000122377
Gene: ENSMUSG00000029404
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SR-25
|
19 |
227 |
3e-86 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149835
|
| SMART Domains |
Protein: ENSMUSP00000116269
Gene: ENSMUSG00000029404
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
32 |
N/A |
INTRINSIC |
|
SCOP:d1l9ha_
|
58 |
84 |
7e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159010
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159628
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161938
|
| SMART Domains |
Protein: ENSMUSP00000124111
Gene: ENSMUSG00000029406
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IP_trans
|
1 |
251 |
7.5e-116 |
PFAM |
|
low complexity region
|
298 |
319 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
344 |
N/A |
INTRINSIC |
|
Blast:DDHD
|
422 |
670 |
2e-65 |
BLAST |
|
low complexity region
|
682 |
689 |
N/A |
INTRINSIC |
|
DDHD
|
701 |
949 |
8.37e-104 |
SMART |
|
LNS2
|
1094 |
1225 |
3.22e-55 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161273
|
| SMART Domains |
Protein: ENSMUSP00000124292
Gene: ENSMUSG00000029406
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IP_trans
|
1 |
253 |
3.2e-129 |
PFAM |
|
low complexity region
|
298 |
319 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
344 |
N/A |
INTRINSIC |
|
Blast:DDHD
|
422 |
670 |
2e-65 |
BLAST |
|
low complexity region
|
682 |
689 |
N/A |
INTRINSIC |
|
DDHD
|
701 |
945 |
7.5e-100 |
SMART |
|
LNS2
|
1090 |
1221 |
3.1e-59 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162812
|
| SMART Domains |
Protein: ENSMUSP00000124740
Gene: ENSMUSG00000029406
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IP_trans
|
1 |
253 |
6.1e-132 |
PFAM |
|
low complexity region
|
298 |
319 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
344 |
N/A |
INTRINSIC |
|
low complexity region
|
507 |
515 |
N/A |
INTRINSIC |
|
Blast:DDHD
|
548 |
570 |
6e-7 |
BLAST |
|
low complexity region
|
571 |
589 |
N/A |
INTRINSIC |
|
low complexity region
|
608 |
630 |
N/A |
INTRINSIC |
|
low complexity region
|
682 |
689 |
N/A |
INTRINSIC |
|
DDHD
|
701 |
895 |
1.66e-98 |
SMART |
|
LNS2
|
1040 |
1171 |
3.22e-55 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161479
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196401
|
| SMART Domains |
Protein: ENSMUSP00000142496
Gene: ENSMUSG00000029404
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
50 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PITPNM2 belongs to a family of membrane-associated phosphatidylinositol transfer domain-containing proteins that share homology with the Drosophila retinal degeneration B (rdgB) protein (Ocaka et al., 2005 [PubMed 15627748]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous null mice are viable, fertile, and show no defects pertaining to photoreceptor function or survival. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
T |
C |
7: 119,191,533 (GRCm39) |
S534P |
possibly damaging |
Het |
| Adamts15 |
G |
A |
9: 30,813,349 (GRCm39) |
P939S |
probably damaging |
Het |
| Alms1 |
T |
C |
6: 85,578,292 (GRCm39) |
S207P |
probably damaging |
Het |
| Chd7 |
A |
G |
4: 8,805,181 (GRCm39) |
K747E |
probably damaging |
Het |
| Dock5 |
G |
T |
14: 68,008,526 (GRCm39) |
N1457K |
probably damaging |
Het |
| Donson |
T |
C |
16: 91,479,479 (GRCm39) |
E323G |
possibly damaging |
Het |
| Epc1 |
T |
A |
18: 6,449,196 (GRCm39) |
M434L |
probably benign |
Het |
| Fcer1a |
A |
G |
1: 173,050,100 (GRCm39) |
|
probably benign |
Het |
| Hemgn |
A |
T |
4: 46,396,383 (GRCm39) |
C284* |
probably null |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Or7g34 |
A |
G |
9: 19,478,471 (GRCm39) |
S67P |
probably damaging |
Het |
| Pcdh15 |
G |
A |
10: 74,466,530 (GRCm39) |
E1450K |
probably benign |
Het |
| Pfpl |
A |
T |
19: 12,407,009 (GRCm39) |
H420L |
probably benign |
Het |
| Pole2 |
A |
G |
12: 69,273,219 (GRCm39) |
|
probably benign |
Het |
| Prmt3 |
T |
A |
7: 49,441,757 (GRCm39) |
Y245N |
probably damaging |
Het |
| Rpl10a |
T |
C |
17: 28,547,981 (GRCm39) |
Y41H |
probably damaging |
Het |
| Tpst1 |
A |
T |
5: 130,130,975 (GRCm39) |
K148N |
probably benign |
Het |
| Vmn1r199 |
A |
G |
13: 22,567,029 (GRCm39) |
T108A |
possibly damaging |
Het |
| Wdr7 |
T |
A |
18: 63,873,315 (GRCm39) |
C525* |
probably null |
Het |
| Zfp646 |
A |
G |
7: 127,478,302 (GRCm39) |
T160A |
possibly damaging |
Het |
|
| Other mutations in Pitpnm2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01660:Pitpnm2
|
APN |
5 |
124,261,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02328:Pitpnm2
|
APN |
5 |
124,259,477 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02340:Pitpnm2
|
APN |
5 |
124,268,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02399:Pitpnm2
|
APN |
5 |
124,278,821 (GRCm39) |
splice site |
probably benign |
|
|
IGL02719:Pitpnm2
|
APN |
5 |
124,278,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03053:Pitpnm2
|
APN |
5 |
124,281,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03083:Pitpnm2
|
APN |
5 |
124,271,445 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
PIT4131001:Pitpnm2
|
UTSW |
5 |
124,269,178 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0058:Pitpnm2
|
UTSW |
5 |
124,262,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0437:Pitpnm2
|
UTSW |
5 |
124,269,152 (GRCm39) |
splice site |
probably benign |
|
|
R0530:Pitpnm2
|
UTSW |
5 |
124,269,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0568:Pitpnm2
|
UTSW |
5 |
124,278,580 (GRCm39) |
splice site |
probably benign |
|
|
R0926:Pitpnm2
|
UTSW |
5 |
124,269,272 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1625:Pitpnm2
|
UTSW |
5 |
124,271,496 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2008:Pitpnm2
|
UTSW |
5 |
124,290,684 (GRCm39) |
start codon destroyed |
probably damaging |
0.99 |
|
R2120:Pitpnm2
|
UTSW |
5 |
124,265,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2354:Pitpnm2
|
UTSW |
5 |
124,260,982 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2448:Pitpnm2
|
UTSW |
5 |
124,262,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2509:Pitpnm2
|
UTSW |
5 |
124,274,389 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2510:Pitpnm2
|
UTSW |
5 |
124,274,389 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2511:Pitpnm2
|
UTSW |
5 |
124,274,389 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2520:Pitpnm2
|
UTSW |
5 |
124,267,464 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2860:Pitpnm2
|
UTSW |
5 |
124,259,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2861:Pitpnm2
|
UTSW |
5 |
124,259,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4407:Pitpnm2
|
UTSW |
5 |
124,290,678 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R4417:Pitpnm2
|
UTSW |
5 |
124,261,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4426:Pitpnm2
|
UTSW |
5 |
124,280,186 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4458:Pitpnm2
|
UTSW |
5 |
124,259,439 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4610:Pitpnm2
|
UTSW |
5 |
124,263,434 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4786:Pitpnm2
|
UTSW |
5 |
124,259,806 (GRCm39) |
nonsense |
probably null |
|
|
R4903:Pitpnm2
|
UTSW |
5 |
124,290,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5151:Pitpnm2
|
UTSW |
5 |
124,274,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5315:Pitpnm2
|
UTSW |
5 |
124,259,996 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5592:Pitpnm2
|
UTSW |
5 |
124,280,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5792:Pitpnm2
|
UTSW |
5 |
124,268,384 (GRCm39) |
nonsense |
probably null |
|
|
R6846:Pitpnm2
|
UTSW |
5 |
124,269,234 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6983:Pitpnm2
|
UTSW |
5 |
124,271,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7096:Pitpnm2
|
UTSW |
5 |
124,267,324 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7188:Pitpnm2
|
UTSW |
5 |
124,259,366 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7203:Pitpnm2
|
UTSW |
5 |
124,259,522 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7237:Pitpnm2
|
UTSW |
5 |
124,263,360 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7257:Pitpnm2
|
UTSW |
5 |
124,263,419 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7622:Pitpnm2
|
UTSW |
5 |
124,260,090 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7677:Pitpnm2
|
UTSW |
5 |
124,261,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7736:Pitpnm2
|
UTSW |
5 |
124,261,093 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7745:Pitpnm2
|
UTSW |
5 |
124,266,768 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8041:Pitpnm2
|
UTSW |
5 |
124,259,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9070:Pitpnm2
|
UTSW |
5 |
124,259,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9218:Pitpnm2
|
UTSW |
5 |
124,265,344 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9423:Pitpnm2
|
UTSW |
5 |
124,271,469 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9438:Pitpnm2
|
UTSW |
5 |
124,269,342 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9439:Pitpnm2
|
UTSW |
5 |
124,278,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9439:Pitpnm2
|
UTSW |
5 |
124,274,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation