Incidental Mutation 'R0568:Pitpnm2'
ID |
46257 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pitpnm2
|
Ensembl Gene |
ENSMUSG00000029406 |
Gene Name |
phosphatidylinositol transfer protein, membrane-associated 2 |
Synonyms |
RDGBA2, NIR3, Rdgb2 |
MMRRC Submission |
038759-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0568 (G1)
|
Quality Score |
217 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
124256753-124387823 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 124278580 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 |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.4%
|
Validation Efficiency |
100% (38/38) |
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acnat1 |
G |
A |
4: 49,451,003 (GRCm39) |
T36I |
possibly damaging |
Het |
Adamts20 |
T |
C |
15: 94,189,594 (GRCm39) |
|
probably benign |
Het |
Adamtsl1 |
T |
C |
4: 86,336,789 (GRCm39) |
L1558S |
probably damaging |
Het |
Ap3b2 |
A |
G |
7: 81,114,377 (GRCm39) |
|
probably null |
Het |
Bag2 |
T |
C |
1: 33,786,059 (GRCm39) |
M88V |
probably benign |
Het |
Brms1l |
A |
G |
12: 55,908,173 (GRCm39) |
|
probably null |
Het |
C8b |
A |
G |
4: 104,650,577 (GRCm39) |
I462V |
probably benign |
Het |
Cfap410 |
C |
T |
10: 77,818,872 (GRCm39) |
T181I |
possibly damaging |
Het |
Cfap410 |
A |
T |
10: 77,820,381 (GRCm39) |
*250C |
probably null |
Het |
Cnpy4 |
A |
G |
5: 138,190,839 (GRCm39) |
E167G |
probably damaging |
Het |
Copa |
T |
C |
1: 171,939,704 (GRCm39) |
V624A |
possibly damaging |
Het |
Gm4553 |
G |
T |
7: 141,719,357 (GRCm39) |
P24T |
unknown |
Het |
Gna12 |
A |
G |
5: 140,746,638 (GRCm39) |
V269A |
possibly damaging |
Het |
Gtf2ird2 |
G |
T |
5: 134,240,083 (GRCm39) |
E302* |
probably null |
Het |
Hmcn2 |
C |
A |
2: 31,305,248 (GRCm39) |
S3140R |
probably benign |
Het |
Hspa4 |
A |
G |
11: 53,153,703 (GRCm39) |
|
probably benign |
Het |
Hspbp1 |
A |
T |
7: 4,687,431 (GRCm39) |
L60* |
probably null |
Het |
Lats1 |
A |
T |
10: 7,588,292 (GRCm39) |
I970F |
possibly damaging |
Het |
Lipo3 |
T |
C |
19: 33,559,442 (GRCm39) |
|
probably benign |
Het |
Lrrc3 |
T |
A |
10: 77,737,419 (GRCm39) |
R6W |
probably damaging |
Het |
Lxn |
C |
T |
3: 67,368,335 (GRCm39) |
A143T |
probably damaging |
Het |
Mga |
T |
C |
2: 119,765,903 (GRCm39) |
I1390T |
probably damaging |
Het |
Ncapg2 |
T |
A |
12: 116,386,835 (GRCm39) |
I286N |
probably damaging |
Het |
Or4c107 |
T |
A |
2: 88,789,387 (GRCm39) |
Y192* |
probably null |
Het |
Plxna2 |
T |
C |
1: 194,433,694 (GRCm39) |
V581A |
probably benign |
Het |
Polr3d |
A |
T |
14: 70,676,959 (GRCm39) |
H378Q |
possibly damaging |
Het |
Ptpn13 |
T |
C |
5: 103,637,631 (GRCm39) |
V173A |
probably damaging |
Het |
Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
Smc4 |
T |
C |
3: 68,929,794 (GRCm39) |
|
probably null |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Syngr3 |
C |
T |
17: 24,905,555 (GRCm39) |
A140T |
probably benign |
Het |
Tent2 |
A |
G |
13: 93,291,500 (GRCm39) |
S381P |
probably benign |
Het |
Tprn |
T |
C |
2: 25,154,333 (GRCm39) |
V545A |
probably damaging |
Het |
Trim66 |
T |
C |
7: 109,059,902 (GRCm39) |
H828R |
probably benign |
Het |
Ugt2b5 |
G |
A |
5: 87,285,224 (GRCm39) |
|
probably benign |
Het |
Vps9d1 |
A |
G |
8: 123,973,487 (GRCm39) |
V432A |
probably damaging |
Het |
Zswim9 |
A |
T |
7: 12,994,952 (GRCm39) |
D401E |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCAGGCATACTGGTCCTGGATGG -3'
(R):5'- TGTTCCAGTCAGTCAAGACTTGCCG -3'
Sequencing Primer
(F):5'- gcttttgctctttgcctacttg -3'
(R):5'- CGGGGACCTCTTTCTGAAAAC -3'
|
Posted On |
2013-06-11 |