Incidental Mutation 'IGL02399:Pitpnm2'
ID |
291841 |
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 # |
IGL02399
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
124256753-124387823 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to A
at 124278821 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124740
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086123]
[ENSMUST00000159677]
[ENSMUST00000161273]
[ENSMUST00000161644]
[ENSMUST00000161938]
[ENSMUST00000162812]
|
AlphaFold |
Q6ZPQ6 |
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: ENSMUST00000159677
|
SMART Domains |
Protein: ENSMUSP00000143269 Gene: ENSMUSG00000029406
Domain | Start | End | E-Value | Type |
Pfam:IP_trans
|
1 |
253 |
3.2e-130 |
PFAM |
low complexity region
|
298 |
319 |
N/A |
INTRINSIC |
low complexity region
|
333 |
344 |
N/A |
INTRINSIC |
low complexity region
|
420 |
436 |
N/A |
INTRINSIC |
|
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 |
noncoding transcript
Transcript: ENSMUST00000161530
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161644
|
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: 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 |
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd12 |
C |
T |
2: 150,700,413 (GRCm39) |
|
probably benign |
Het |
Adarb1 |
G |
A |
10: 77,131,588 (GRCm39) |
P624S |
probably benign |
Het |
Afg3l2 |
A |
T |
18: 67,562,110 (GRCm39) |
F322I |
possibly damaging |
Het |
Arhgap23 |
A |
G |
11: 97,381,831 (GRCm39) |
|
probably benign |
Het |
Atp13a1 |
A |
G |
8: 70,259,751 (GRCm39) |
N1114S |
probably damaging |
Het |
C3ar1 |
T |
C |
6: 122,826,838 (GRCm39) |
N460D |
probably benign |
Het |
Cacna1e |
A |
G |
1: 154,279,493 (GRCm39) |
Y1988H |
probably damaging |
Het |
Calr |
T |
C |
8: 85,569,415 (GRCm39) |
|
probably benign |
Het |
D5Ertd579e |
A |
G |
5: 36,773,529 (GRCm39) |
S289P |
probably damaging |
Het |
Erbb4 |
G |
A |
1: 68,081,596 (GRCm39) |
|
probably benign |
Het |
Fam98a |
A |
G |
17: 75,845,936 (GRCm39) |
|
probably benign |
Het |
Gm3739 |
A |
T |
14: 18,505,274 (GRCm39) |
D83E |
possibly damaging |
Het |
Gm5420 |
A |
T |
10: 21,567,071 (GRCm39) |
|
noncoding transcript |
Het |
Heatr5b |
A |
G |
17: 79,135,396 (GRCm39) |
V245A |
probably damaging |
Het |
Kptn |
C |
A |
7: 15,861,038 (GRCm39) |
|
probably benign |
Het |
Llgl2 |
T |
C |
11: 115,735,661 (GRCm39) |
C86R |
probably damaging |
Het |
Lrr1 |
T |
A |
12: 69,215,665 (GRCm39) |
C12* |
probably null |
Het |
Mcf2 |
T |
C |
X: 59,180,812 (GRCm39) |
D255G |
probably damaging |
Het |
Med13 |
A |
T |
11: 86,174,771 (GRCm39) |
|
probably benign |
Het |
Mthfd1 |
C |
T |
12: 76,364,406 (GRCm39) |
T735M |
probably damaging |
Het |
Nlrp2 |
C |
T |
7: 5,331,809 (GRCm39) |
A196T |
probably damaging |
Het |
Nnmt |
T |
C |
9: 48,514,838 (GRCm39) |
I60V |
probably damaging |
Het |
Odad2 |
G |
T |
18: 7,285,719 (GRCm39) |
Q215K |
probably benign |
Het |
Or4c110 |
T |
A |
2: 88,832,507 (GRCm39) |
T42S |
probably benign |
Het |
Or6ae1 |
A |
T |
7: 139,742,513 (GRCm39) |
S117T |
probably benign |
Het |
P2rx3 |
T |
C |
2: 84,853,571 (GRCm39) |
I140V |
probably benign |
Het |
Patj |
A |
G |
4: 98,480,173 (GRCm39) |
N1293D |
probably damaging |
Het |
Ppp1r26 |
T |
G |
2: 28,343,292 (GRCm39) |
V974G |
probably benign |
Het |
Prrc2b |
T |
A |
2: 32,116,973 (GRCm39) |
L1376* |
probably null |
Het |
Rab33a |
T |
A |
X: 47,608,584 (GRCm39) |
I36N |
probably damaging |
Het |
Rab3gap1 |
A |
T |
1: 127,855,840 (GRCm39) |
N493I |
possibly damaging |
Het |
Scara3 |
C |
A |
14: 66,170,559 (GRCm39) |
G107* |
probably null |
Het |
Siglec1 |
T |
C |
2: 130,913,098 (GRCm39) |
E1606G |
probably benign |
Het |
Skint9 |
A |
T |
4: 112,246,447 (GRCm39) |
Y222N |
possibly damaging |
Het |
Slc47a1 |
A |
T |
11: 61,253,884 (GRCm39) |
I185N |
probably damaging |
Het |
Slc47a2 |
C |
A |
11: 61,193,020 (GRCm39) |
|
probably benign |
Het |
Slc4a2 |
A |
G |
5: 24,639,711 (GRCm39) |
I506V |
probably damaging |
Het |
Slc9a4 |
A |
C |
1: 40,639,942 (GRCm39) |
I245L |
probably benign |
Het |
Smarcb1 |
T |
C |
10: 75,733,328 (GRCm39) |
T357A |
probably damaging |
Het |
Spata31d1d |
A |
G |
13: 59,877,954 (GRCm39) |
|
probably benign |
Het |
Stox2 |
T |
A |
8: 47,639,573 (GRCm39) |
I874F |
probably damaging |
Het |
Taar7b |
A |
T |
10: 23,876,050 (GRCm39) |
I72F |
probably damaging |
Het |
Tacc2 |
G |
A |
7: 130,225,129 (GRCm39) |
V605I |
probably benign |
Het |
Tef |
T |
C |
15: 81,699,301 (GRCm39) |
L34P |
probably damaging |
Het |
Trak2 |
A |
G |
1: 58,949,204 (GRCm39) |
V532A |
probably benign |
Het |
Usp13 |
T |
A |
3: 32,973,209 (GRCm39) |
D795E |
probably damaging |
Het |
Vmn1r32 |
T |
A |
6: 66,529,913 (GRCm39) |
I288F |
probably benign |
Het |
Vmn1r75 |
T |
C |
7: 11,615,093 (GRCm39) |
I275T |
possibly damaging |
Het |
Zfp871 |
A |
T |
17: 32,993,329 (GRCm39) |
F615L |
probably benign |
Het |
Zfp941 |
G |
A |
7: 140,392,612 (GRCm39) |
T249M |
probably benign |
Het |
Zhx1 |
T |
C |
15: 57,917,137 (GRCm39) |
I370V |
probably damaging |
Het |
|
Other mutations in Pitpnm2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00930:Pitpnm2
|
APN |
5 |
124,259,726 (GRCm39) |
unclassified |
probably benign |
|
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 |
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 |
2015-04-16 |