Incidental Mutation 'R7745:Pitpnm2'
| ID |
596786 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pitpnm2
|
| Ensembl Gene |
ENSMUSG00000029406 |
| Gene Name |
phosphatidylinositol transfer protein, membrane-associated 2 |
| Synonyms |
RDGBA2, NIR3, Rdgb2 |
| MMRRC Submission |
045801-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7745 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
124256753-124387823 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 124266768 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Proline
at position 697
(A697P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124111
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086123]
[ENSMUST00000159677]
[ENSMUST00000161273]
[ENSMUST00000161938]
[ENSMUST00000162812]
|
| AlphaFold |
Q6ZPQ6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086123
AA Change: A697P
PolyPhen 2
Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000083292
Gene: ENSMUSG00000029406
AA Change: A697P
| 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
AA Change: A697P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000124292
Gene: ENSMUSG00000029406
AA Change: A697P
| 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: A697P
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000124111
Gene: ENSMUSG00000029406
AA Change: A697P
| 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: A697P
PolyPhen 2
Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000124740
Gene: ENSMUSG00000029406
AA Change: A697P
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
96% (55/57) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
A |
C |
3: 59,945,893 (GRCm39) |
S188R |
probably damaging |
Het |
| Aars1 |
T |
A |
8: 111,768,289 (GRCm39) |
I220N |
probably damaging |
Het |
| Abca15 |
A |
G |
7: 119,931,440 (GRCm39) |
N16S |
probably damaging |
Het |
| Adck1 |
A |
T |
12: 88,423,570 (GRCm39) |
M358L |
probably benign |
Het |
| Adck5 |
A |
T |
15: 76,478,748 (GRCm39) |
Q345L |
probably benign |
Het |
| Adgrl2 |
A |
G |
3: 148,542,094 (GRCm39) |
F876S |
probably damaging |
Het |
| Aebp2 |
T |
A |
6: 140,569,584 (GRCm39) |
L55Q |
unknown |
Het |
| Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
| Aox3 |
T |
C |
1: 58,215,676 (GRCm39) |
V1036A |
possibly damaging |
Het |
| Aox4 |
A |
G |
1: 58,279,866 (GRCm39) |
D494G |
probably benign |
Het |
| Cacna1a |
C |
A |
8: 85,286,023 (GRCm39) |
H889Q |
probably benign |
Het |
| Cacna1c |
T |
C |
6: 119,029,587 (GRCm39) |
D151G |
|
Het |
| Car8 |
A |
G |
4: 8,237,939 (GRCm39) |
V92A |
possibly damaging |
Het |
| Ccdc8 |
G |
T |
7: 16,729,614 (GRCm39) |
A368S |
unknown |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Cntnap5a |
A |
G |
1: 116,370,013 (GRCm39) |
I877V |
probably benign |
Het |
| Copa |
A |
T |
1: 171,939,509 (GRCm39) |
D582V |
probably damaging |
Het |
| Cpne2 |
T |
G |
8: 95,295,312 (GRCm39) |
S466A |
probably damaging |
Het |
| Crybg2 |
A |
G |
4: 133,816,156 (GRCm39) |
K1311R |
possibly damaging |
Het |
| Csmd1 |
A |
G |
8: 15,982,461 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
A |
T |
11: 69,342,144 (GRCm39) |
C2947* |
probably null |
Het |
| Exoc1 |
A |
T |
5: 76,709,359 (GRCm39) |
K656* |
probably null |
Het |
| Exoc8 |
T |
C |
8: 125,622,558 (GRCm39) |
N603S |
probably benign |
Het |
| Fam171a1 |
T |
A |
2: 3,226,483 (GRCm39) |
C539S |
possibly damaging |
Het |
| Fastkd5 |
A |
T |
2: 130,456,988 (GRCm39) |
I534K |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,145,115 (GRCm39) |
D2708G |
probably benign |
Het |
| Fhad1 |
A |
G |
4: 141,618,250 (GRCm39) |
L1392P |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,874,754 (GRCm39) |
T2306S |
probably benign |
Het |
| Gdf7 |
G |
T |
12: 8,351,854 (GRCm39) |
A27E |
unknown |
Het |
| Hnrnph1 |
A |
T |
11: 50,270,324 (GRCm39) |
I43F |
probably damaging |
Het |
| Igkv8-27 |
T |
A |
6: 70,148,999 (GRCm39) |
S52C |
probably benign |
Het |
| Jmjd1c |
T |
C |
10: 67,052,824 (GRCm39) |
F24L |
probably damaging |
Het |
| Knl1 |
T |
G |
2: 118,902,037 (GRCm39) |
L1246R |
probably benign |
Het |
| Limk2 |
C |
T |
11: 3,305,896 (GRCm39) |
S191N |
probably damaging |
Het |
| Mdga2 |
C |
A |
12: 66,736,125 (GRCm39) |
A368S |
possibly damaging |
Het |
| Mdga2 |
G |
A |
12: 66,736,124 (GRCm39) |
A368V |
probably damaging |
Het |
| Med24 |
A |
T |
11: 98,595,793 (GRCm39) |
L966Q |
probably damaging |
Het |
| Mgll |
T |
C |
6: 88,702,770 (GRCm39) |
V23A |
possibly damaging |
Het |
| Nedd1 |
C |
T |
10: 92,550,034 (GRCm39) |
D84N |
probably benign |
Het |
| Obscn |
A |
C |
11: 58,951,681 (GRCm39) |
L4024R |
probably damaging |
Het |
| Or5k1b |
A |
T |
16: 58,580,782 (GRCm39) |
Y252* |
probably null |
Het |
| Pcnx2 |
T |
C |
8: 126,577,846 (GRCm39) |
I944V |
probably benign |
Het |
| Pecr |
T |
C |
1: 72,306,157 (GRCm39) |
|
probably null |
Het |
| Phf3 |
A |
T |
1: 30,843,305 (GRCm39) |
W1885R |
probably damaging |
Het |
| Piwil2 |
T |
A |
14: 70,631,638 (GRCm39) |
H602L |
probably benign |
Het |
| Pprc1 |
T |
C |
19: 46,053,781 (GRCm39) |
S1104P |
unknown |
Het |
| Prkar1a |
T |
A |
11: 109,544,673 (GRCm39) |
Y21* |
probably null |
Het |
| Prl2c3 |
A |
T |
13: 12,813,186 (GRCm39) |
Y9* |
probably null |
Het |
| Rhbdl3 |
T |
A |
11: 80,214,405 (GRCm39) |
L172Q |
possibly damaging |
Het |
| Rsph3a |
T |
G |
17: 8,198,075 (GRCm39) |
L484W |
probably damaging |
Het |
| Sbno1 |
A |
T |
5: 124,530,962 (GRCm39) |
S809T |
probably benign |
Het |
| Stmnd1 |
T |
A |
13: 46,453,077 (GRCm39) |
V251E |
possibly damaging |
Het |
| Stt3a |
A |
T |
9: 36,662,535 (GRCm39) |
C241* |
probably null |
Het |
| Tas2r114 |
A |
T |
6: 131,666,401 (GRCm39) |
M209K |
probably damaging |
Het |
| Tchh |
G |
T |
3: 93,352,084 (GRCm39) |
R508L |
unknown |
Het |
| Tgfbr3l |
T |
C |
8: 4,300,622 (GRCm39) |
S267P |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,598,144 (GRCm39) |
I19590F |
probably damaging |
Het |
| Vmn1r171 |
A |
G |
7: 23,332,035 (GRCm39) |
T87A |
probably benign |
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 |
|
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 |
|
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'- ACAGACAGTGCCTTTGGTGG -3'
(R):5'- AGAGCCTGTGATATGCTGTC -3'
Sequencing Primer
(F):5'- ATGTGACCAGGCCCTTGTGAC -3'
(R):5'- AGAGCCTGTGATATGCTGTCATTAG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation