Incidental Mutation 'R7188:Pitpnm2'
| ID |
559419 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pitpnm2
|
| Ensembl Gene |
ENSMUSG00000029406 |
| Gene Name |
phosphatidylinositol transfer protein, membrane-associated 2 |
| Synonyms |
RDGBA2, NIR3, Rdgb2 |
| MMRRC Submission |
045272-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7188 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
124256753-124387823 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 124259366 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 1323
(A1323E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124111
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031351]
[ENSMUST00000086123]
[ENSMUST00000122394]
[ENSMUST00000145667]
[ENSMUST00000149835]
[ENSMUST00000161273]
[ENSMUST00000161938]
[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
AA Change: A1269E
PolyPhen 2
Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000083292
Gene: ENSMUSG00000029406
AA Change: A1269E
| 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 |
probably benign
Transcript: ENSMUST00000161273
AA Change: A1319E
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000124292
Gene: ENSMUSG00000029406
AA Change: A1319E
| 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: ENSMUST00000161938
AA Change: A1323E
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000124111
Gene: ENSMUSG00000029406
AA Change: A1323E
| 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
AA Change: A1269E
PolyPhen 2
Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000124740
Gene: ENSMUSG00000029406
AA Change: A1269E
| 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: ENSMUST00000196401
|
| SMART Domains |
Protein: ENSMUSP00000142496
Gene: ENSMUSG00000029404
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
50 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
C |
17: 24,554,600 (GRCm39) |
Y118C |
possibly damaging |
Het |
| Abcb6 |
A |
G |
1: 75,150,781 (GRCm39) |
|
probably null |
Het |
| Acox2 |
T |
A |
14: 8,252,996 (GRCm38) |
I236L |
possibly damaging |
Het |
| Adamts12 |
A |
T |
15: 11,336,411 (GRCm39) |
K1499* |
probably null |
Het |
| Ankrd24 |
G |
T |
10: 81,472,224 (GRCm39) |
E20* |
probably null |
Het |
| Arsa |
A |
T |
15: 89,359,830 (GRCm39) |
Y32* |
probably null |
Het |
| Atp9b |
A |
G |
18: 80,961,041 (GRCm39) |
S57P |
|
Het |
| Atr |
G |
T |
9: 95,744,844 (GRCm39) |
E54* |
probably null |
Het |
| Bace1 |
A |
G |
9: 45,767,393 (GRCm39) |
D192G |
probably benign |
Het |
| Bltp1 |
A |
T |
3: 37,004,162 (GRCm39) |
T1624S |
probably benign |
Het |
| Bltp3b |
T |
C |
10: 89,615,744 (GRCm39) |
V129A |
probably damaging |
Het |
| Cacna1d |
T |
C |
14: 29,811,790 (GRCm39) |
S1309G |
probably benign |
Het |
| Cd177 |
G |
T |
7: 24,456,072 (GRCm39) |
T232K |
probably damaging |
Het |
| Chil4 |
T |
A |
3: 106,111,475 (GRCm39) |
D213V |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,182,546 (GRCm39) |
I3538N |
probably damaging |
Het |
| Cyp26a1 |
T |
A |
19: 37,687,753 (GRCm39) |
M287K |
possibly damaging |
Het |
| Dcaf5 |
T |
C |
12: 80,446,732 (GRCm39) |
D129G |
probably damaging |
Het |
| Dnah12 |
A |
C |
14: 26,536,370 (GRCm39) |
K2095N |
probably benign |
Het |
| Dnpep |
G |
A |
1: 75,292,701 (GRCm39) |
S106L |
probably damaging |
Het |
| Dock2 |
C |
T |
11: 34,189,675 (GRCm39) |
E1499K |
possibly damaging |
Het |
| Dus4l |
A |
G |
12: 31,696,714 (GRCm39) |
F88L |
probably damaging |
Het |
| Fcrl2 |
A |
C |
3: 87,166,830 (GRCm39) |
D54E |
probably benign |
Het |
| Fign |
T |
A |
2: 63,809,950 (GRCm39) |
H440L |
possibly damaging |
Het |
| Gabpa |
A |
G |
16: 84,643,174 (GRCm39) |
D157G |
probably damaging |
Het |
| Gapdh |
T |
A |
6: 125,142,403 (GRCm39) |
|
probably benign |
Het |
| Gbp8 |
G |
T |
5: 105,164,081 (GRCm39) |
R406S |
probably benign |
Het |
| Gm21775 |
A |
G |
Y: 10,553,894 (GRCm39) |
R148G |
possibly damaging |
Het |
| Gm28363 |
G |
A |
1: 117,626,579 (GRCm39) |
V6I |
unknown |
Het |
| Gmps |
A |
G |
3: 63,918,982 (GRCm39) |
D522G |
probably damaging |
Het |
| Gpr75 |
T |
C |
11: 30,842,687 (GRCm39) |
S531P |
probably damaging |
Het |
| Hars2 |
G |
T |
18: 36,923,614 (GRCm39) |
E468D |
probably benign |
Het |
| Jph4 |
C |
A |
14: 55,352,664 (GRCm39) |
R23L |
probably damaging |
Het |
| Kctd12 |
T |
A |
14: 103,219,230 (GRCm39) |
Y216F |
probably benign |
Het |
| L3mbtl1 |
G |
A |
2: 162,791,460 (GRCm39) |
|
probably null |
Het |
| Lama4 |
G |
A |
10: 38,841,729 (GRCm39) |
|
probably benign |
Het |
| Lyst |
T |
A |
13: 13,926,675 (GRCm39) |
S3494T |
possibly damaging |
Het |
| Mybpc2 |
A |
G |
7: 44,155,617 (GRCm39) |
S879P |
probably benign |
Het |
| Ncaph |
C |
T |
2: 126,964,034 (GRCm39) |
V304M |
probably benign |
Het |
| Noto |
A |
T |
6: 85,405,047 (GRCm39) |
I229F |
possibly damaging |
Het |
| Or10n7-ps1 |
T |
C |
9: 39,597,731 (GRCm39) |
M170V |
unknown |
Het |
| Or4c29 |
T |
C |
2: 88,740,203 (GRCm39) |
D178G |
probably damaging |
Het |
| Or8k25 |
T |
A |
2: 86,243,695 (GRCm39) |
K234* |
probably null |
Het |
| Pald1 |
A |
T |
10: 61,182,845 (GRCm39) |
V368E |
probably damaging |
Het |
| Pde9a |
T |
A |
17: 31,678,071 (GRCm39) |
M217K |
probably damaging |
Het |
| Pira1 |
A |
T |
7: 3,741,828 (GRCm39) |
V184E |
probably damaging |
Het |
| Ppp1r3a |
T |
C |
6: 14,719,190 (GRCm39) |
S575G |
probably benign |
Het |
| Prok1 |
T |
C |
3: 107,146,941 (GRCm39) |
I9V |
probably benign |
Het |
| Ptprc |
A |
T |
1: 137,998,918 (GRCm39) |
V905D |
probably damaging |
Het |
| Rbm25 |
G |
T |
12: 83,710,772 (GRCm39) |
G295V |
unknown |
Het |
| Rreb1 |
T |
C |
13: 38,100,544 (GRCm39) |
M225T |
possibly damaging |
Het |
| Ryr3 |
T |
C |
2: 112,858,989 (GRCm39) |
K55E |
probably damaging |
Het |
| Saxo4 |
T |
A |
19: 10,459,702 (GRCm39) |
M2L |
probably benign |
Het |
| Scgb2b26 |
G |
T |
7: 33,644,379 (GRCm39) |
T4K |
probably damaging |
Het |
| Setx |
C |
A |
2: 29,038,184 (GRCm39) |
D1556E |
probably benign |
Het |
| Sft2d1 |
C |
T |
17: 8,542,164 (GRCm39) |
T136I |
possibly damaging |
Het |
| Sirt5 |
C |
T |
13: 43,525,380 (GRCm39) |
A63V |
possibly damaging |
Het |
| Skor2 |
A |
G |
18: 76,947,504 (GRCm39) |
T409A |
possibly damaging |
Het |
| Slc12a6 |
T |
C |
2: 112,164,760 (GRCm39) |
M153T |
probably benign |
Het |
| Slc34a1 |
A |
G |
13: 24,006,348 (GRCm39) |
Y458C |
probably damaging |
Het |
| Slc36a2 |
A |
G |
11: 55,053,483 (GRCm39) |
V385A |
possibly damaging |
Het |
| St6galnac5 |
A |
T |
3: 152,552,131 (GRCm39) |
H145Q |
probably damaging |
Het |
| Tal1 |
T |
A |
4: 114,925,610 (GRCm39) |
N226K |
probably damaging |
Het |
| Tgtp2 |
G |
C |
11: 48,950,135 (GRCm39) |
R146G |
probably damaging |
Het |
| Usp6nl |
T |
C |
2: 6,445,330 (GRCm39) |
S436P |
probably benign |
Het |
| Utp3 |
A |
G |
5: 88,702,621 (GRCm39) |
E50G |
probably benign |
Het |
| Zfp12 |
A |
T |
5: 143,225,749 (GRCm39) |
Q19L |
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 |
|
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 |
|
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'- CATAACCAGCTGGGCTCCTTAG -3'
(R):5'- TACCTGGCCAGAGTGACTTC -3'
Sequencing Primer
(F):5'- ATGGCCATGTCTTCCAAGG -3'
(R):5'- TGGCCAGAGTGACTTCCTTCG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation