Incidental Mutation 'R2860:Pitpnm2'
ID |
252827 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pitpnm2
|
Ensembl Gene |
ENSMUSG00000029406 |
Gene Name |
phosphatidylinositol transfer protein, membrane-associated 2 |
Synonyms |
RDGBA2, NIR3, Rdgb2 |
MMRRC Submission |
040450-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2860 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
124256753-124387823 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 124259500 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 1224
(H1224Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124740
(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 damaging
Transcript: ENSMUST00000086123
AA Change: H1224Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000083292 Gene: ENSMUSG00000029406 AA Change: H1224Q
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 |
probably benign
Transcript: ENSMUST00000161938
AA Change: H1278Q
PolyPhen 2
Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000124111 Gene: ENSMUSG00000029406 AA Change: H1278Q
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 |
noncoding transcript
Transcript: ENSMUST00000161479
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159628
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161273
AA Change: H1274Q
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000124292 Gene: ENSMUSG00000029406 AA Change: H1274Q
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 damaging
Transcript: ENSMUST00000162812
AA Change: H1224Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000124740 Gene: ENSMUSG00000029406 AA Change: H1224Q
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 |
|
Meta Mutation Damage Score |
0.1095 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
Validation Efficiency |
100% (44/44) |
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,259,057 (GRCm39) |
S2928G |
probably damaging |
Het |
Abcc9 |
C |
T |
6: 142,571,736 (GRCm39) |
V1131M |
probably benign |
Het |
Abcd1 |
T |
A |
X: 72,781,064 (GRCm39) |
L713H |
probably damaging |
Het |
Actg1 |
T |
C |
11: 120,237,627 (GRCm39) |
I52V |
probably benign |
Het |
Ang |
G |
T |
14: 51,339,275 (GRCm39) |
D139Y |
probably damaging |
Het |
Ano1 |
C |
T |
7: 144,143,749 (GRCm39) |
G1011E |
probably damaging |
Het |
Apoe |
T |
C |
7: 19,431,479 (GRCm39) |
Y46C |
probably damaging |
Het |
Ash1l |
T |
C |
3: 88,961,785 (GRCm39) |
W2386R |
probably damaging |
Het |
Asph |
T |
C |
4: 9,598,277 (GRCm39) |
D250G |
probably damaging |
Het |
Atr |
A |
G |
9: 95,756,296 (GRCm39) |
N836S |
probably benign |
Het |
Bltp1 |
G |
A |
3: 37,019,998 (GRCm39) |
S2079N |
probably damaging |
Het |
Btg3 |
A |
G |
16: 78,161,868 (GRCm39) |
V114A |
probably damaging |
Het |
C2 |
T |
C |
17: 35,082,854 (GRCm39) |
T471A |
possibly damaging |
Het |
C4b |
T |
A |
17: 34,953,732 (GRCm39) |
S959C |
probably damaging |
Het |
Cap1 |
A |
T |
4: 122,758,518 (GRCm39) |
S221T |
probably benign |
Het |
Capn2 |
A |
T |
1: 182,300,485 (GRCm39) |
|
probably benign |
Het |
Cd38 |
A |
G |
5: 44,058,775 (GRCm39) |
S130G |
probably damaging |
Het |
Cd8b1 |
A |
G |
6: 71,311,085 (GRCm39) |
R202G |
probably damaging |
Het |
Col22a1 |
A |
G |
15: 71,687,792 (GRCm39) |
|
probably null |
Het |
Cps1 |
A |
T |
1: 67,205,534 (GRCm39) |
E519V |
probably benign |
Het |
Cyp2c38 |
G |
A |
19: 39,449,138 (GRCm39) |
R72W |
probably benign |
Het |
Cyp3a16 |
A |
T |
5: 145,392,309 (GRCm39) |
Y215* |
probably null |
Het |
Dennd10 |
T |
C |
19: 60,803,232 (GRCm39) |
S80P |
probably benign |
Het |
F5 |
A |
T |
1: 164,012,533 (GRCm39) |
K482N |
probably damaging |
Het |
Gab1 |
T |
C |
8: 81,511,382 (GRCm39) |
M488V |
probably benign |
Het |
Gabpb1 |
A |
G |
2: 126,495,494 (GRCm39) |
I86T |
probably damaging |
Het |
Gbx2 |
C |
T |
1: 89,856,853 (GRCm39) |
R179Q |
probably damaging |
Het |
Gm11938 |
C |
A |
11: 99,493,972 (GRCm39) |
R41L |
probably damaging |
Het |
Gpn1 |
A |
G |
5: 31,654,664 (GRCm39) |
D72G |
probably damaging |
Het |
Greb1 |
A |
G |
12: 16,761,746 (GRCm39) |
S545P |
probably benign |
Het |
Hsd3b7 |
T |
G |
7: 127,401,442 (GRCm39) |
L189R |
probably damaging |
Het |
Iglc1 |
T |
C |
16: 18,880,660 (GRCm39) |
|
probably benign |
Het |
Il18r1 |
T |
C |
1: 40,537,717 (GRCm39) |
V494A |
possibly damaging |
Het |
Inka1 |
T |
C |
9: 107,861,603 (GRCm39) |
T238A |
probably benign |
Het |
Itsn2 |
C |
A |
12: 4,750,315 (GRCm39) |
|
probably benign |
Het |
Kcnn1 |
T |
C |
8: 71,299,179 (GRCm39) |
K487R |
probably benign |
Het |
Kdf1 |
G |
A |
4: 133,255,852 (GRCm39) |
E190K |
probably damaging |
Het |
Lama3 |
G |
T |
18: 12,586,807 (GRCm39) |
L723F |
probably damaging |
Het |
Lama5 |
T |
C |
2: 179,829,040 (GRCm39) |
T2034A |
probably benign |
Het |
Maged1 |
G |
A |
X: 93,582,530 (GRCm39) |
P366S |
probably damaging |
Het |
Med14 |
A |
G |
X: 12,585,936 (GRCm39) |
I521T |
probably benign |
Het |
Mia2 |
A |
G |
12: 59,201,196 (GRCm39) |
K841E |
probably damaging |
Het |
Mrgbp |
G |
A |
2: 180,225,203 (GRCm39) |
R53Q |
possibly damaging |
Het |
Nmnat2 |
G |
A |
1: 152,988,171 (GRCm39) |
V267I |
probably benign |
Het |
Opn4 |
A |
G |
14: 34,315,785 (GRCm39) |
|
probably null |
Het |
Or2d2b |
T |
A |
7: 106,705,675 (GRCm39) |
H131L |
probably benign |
Het |
Or4f56 |
G |
T |
2: 111,703,818 (GRCm39) |
C127* |
probably null |
Het |
Or5p66 |
A |
G |
7: 107,886,169 (GRCm39) |
S55P |
probably damaging |
Het |
Or6k6 |
A |
G |
1: 173,945,298 (GRCm39) |
Y95H |
probably damaging |
Het |
Ovgp1 |
T |
C |
3: 105,893,883 (GRCm39) |
|
probably benign |
Het |
Parp16 |
G |
T |
9: 65,141,086 (GRCm39) |
D219Y |
probably damaging |
Het |
Pkd1 |
C |
T |
17: 24,784,420 (GRCm39) |
T322I |
probably benign |
Het |
Pkhd1l1 |
A |
C |
15: 44,404,267 (GRCm39) |
T2299P |
probably damaging |
Het |
Plin4 |
T |
C |
17: 56,413,668 (GRCm39) |
D319G |
probably damaging |
Het |
Ppp6r3 |
A |
C |
19: 3,571,782 (GRCm39) |
S122R |
possibly damaging |
Het |
Pum3 |
A |
T |
19: 27,397,525 (GRCm39) |
|
probably benign |
Het |
Pwwp3b |
G |
A |
X: 138,137,429 (GRCm39) |
G656S |
possibly damaging |
Het |
Rims1 |
A |
T |
1: 22,503,227 (GRCm39) |
F653I |
probably benign |
Het |
Rnf113a1 |
A |
G |
X: 36,455,736 (GRCm39) |
E231G |
probably damaging |
Het |
Rnf41 |
T |
C |
10: 128,274,023 (GRCm39) |
L225P |
possibly damaging |
Het |
Ryr2 |
T |
C |
13: 11,607,979 (GRCm39) |
E876G |
probably damaging |
Het |
Slc25a10 |
G |
A |
11: 120,386,003 (GRCm39) |
V115M |
probably damaging |
Het |
Snx13 |
T |
A |
12: 35,188,116 (GRCm39) |
I798N |
probably benign |
Het |
Sri |
A |
T |
5: 8,117,540 (GRCm39) |
Q178L |
probably benign |
Het |
Tex14 |
T |
G |
11: 87,365,243 (GRCm39) |
D62E |
probably damaging |
Het |
Tshz1 |
G |
T |
18: 84,033,105 (GRCm39) |
H434Q |
probably damaging |
Het |
Vegfd |
A |
G |
X: 163,168,879 (GRCm39) |
E57G |
probably damaging |
Het |
Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
Vmn2r59 |
A |
G |
7: 41,696,427 (GRCm39) |
I105T |
possibly damaging |
Het |
Vmn2r6 |
G |
T |
3: 64,454,760 (GRCm39) |
T513N |
probably benign |
Het |
Vmn2r72 |
A |
T |
7: 85,400,044 (GRCm39) |
I335N |
probably damaging |
Het |
Wiz |
G |
T |
17: 32,580,680 (GRCm39) |
T257K |
probably damaging |
Het |
Xirp1 |
A |
G |
9: 119,847,444 (GRCm39) |
S41P |
probably benign |
Het |
Xirp1 |
T |
C |
9: 119,848,881 (GRCm39) |
M1V |
probably null |
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 |
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'- TCCTGAGAGTGTCCTACTTGGG -3'
(R):5'- AAGGGCACACATTCCTTGG -3'
Sequencing Primer
(F):5'- AGTGTCCTACTTGGGTCCCG -3'
(R):5'- ACTTAACAGCCTGCCCCTG -3'
|
Posted On |
2014-12-04 |