Incidental Mutation 'R4407:Pitpnm2'
| ID |
327705 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pitpnm2
|
| Ensembl Gene |
ENSMUSG00000029406 |
| Gene Name |
phosphatidylinositol transfer protein, membrane-associated 2 |
| Synonyms |
RDGBA2, NIR3, Rdgb2 |
| MMRRC Submission |
041689-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4407 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
124256753-124387823 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 124290678 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 3
(I3L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143269
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086123]
[ENSMUST00000159677]
[ENSMUST00000161273]
[ENSMUST00000161644]
[ENSMUST00000161938]
[ENSMUST00000162812]
|
| AlphaFold |
Q6ZPQ6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086123
AA Change: I3L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000083292
Gene: ENSMUSG00000029406
AA Change: I3L
| 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 |
possibly damaging
Transcript: ENSMUST00000159677
AA Change: I3L
PolyPhen 2
Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000143269
Gene: ENSMUSG00000029406
AA Change: I3L
| 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: I3L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000124292
Gene: ENSMUSG00000029406
AA Change: I3L
| 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: ENSMUST00000161644
AA Change: I3L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161938
AA Change: I3L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000124111
Gene: ENSMUSG00000029406
AA Change: I3L
| 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: I3L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000124740
Gene: ENSMUSG00000029406
AA Change: I3L
| 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 |
|
| Meta Mutation Damage Score |
0.1014 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (61/61) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830035A12Rik |
T |
C |
11: 107,422,881 (GRCm39) |
|
noncoding transcript |
Het |
| Bbs10 |
A |
G |
10: 111,135,720 (GRCm39) |
T278A |
probably benign |
Het |
| Bcl6b |
A |
G |
11: 70,116,929 (GRCm39) |
L450P |
probably damaging |
Het |
| Braf |
T |
G |
6: 39,592,654 (GRCm39) |
K674Q |
probably damaging |
Het |
| Cep112 |
C |
T |
11: 108,410,027 (GRCm39) |
T481I |
possibly damaging |
Het |
| Cep135 |
T |
A |
5: 76,772,514 (GRCm39) |
M633K |
probably benign |
Het |
| Cpped1 |
T |
C |
16: 11,623,285 (GRCm39) |
Y278C |
probably damaging |
Het |
| Depdc5 |
T |
A |
5: 33,061,878 (GRCm39) |
|
probably null |
Het |
| Dolpp1 |
C |
T |
2: 30,286,464 (GRCm39) |
A128V |
possibly damaging |
Het |
| E2f5 |
T |
A |
3: 14,668,823 (GRCm39) |
D238E |
probably benign |
Het |
| Fat4 |
A |
T |
3: 39,012,689 (GRCm39) |
D2328V |
probably benign |
Het |
| Fbln1 |
T |
A |
15: 85,115,757 (GRCm39) |
|
probably null |
Het |
| Fkbp3 |
T |
C |
12: 65,116,778 (GRCm39) |
T53A |
probably damaging |
Het |
| Flg2 |
G |
T |
3: 93,122,176 (GRCm39) |
G1449C |
unknown |
Het |
| G530012D18Rik |
G |
C |
1: 85,504,923 (GRCm39) |
|
probably benign |
Het |
| Glyctk |
A |
T |
9: 106,034,307 (GRCm39) |
|
probably benign |
Het |
| Gm6430 |
T |
C |
1: 96,953,297 (GRCm39) |
|
noncoding transcript |
Het |
| Golga1 |
C |
A |
2: 38,909,653 (GRCm39) |
|
probably null |
Het |
| Gucy2g |
A |
T |
19: 55,226,269 (GRCm39) |
F216I |
probably benign |
Het |
| L3mbtl3 |
A |
G |
10: 26,189,782 (GRCm39) |
V494A |
unknown |
Het |
| Lama2 |
AATCAGACAGGAG |
A |
10: 27,088,124 (GRCm39) |
|
probably benign |
Het |
| Lemd3 |
A |
T |
10: 120,761,335 (GRCm39) |
L907Q |
possibly damaging |
Het |
| Lrp2 |
A |
T |
2: 69,332,861 (GRCm39) |
V1552D |
probably damaging |
Het |
| Map3k12 |
T |
C |
15: 102,413,837 (GRCm39) |
T45A |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,524,664 (GRCm39) |
D665E |
probably damaging |
Het |
| Myof |
A |
G |
19: 37,911,426 (GRCm39) |
S1502P |
probably damaging |
Het |
| Or4p7 |
A |
T |
2: 88,222,427 (GRCm39) |
M279L |
probably benign |
Het |
| Pcdhac2 |
G |
T |
18: 37,277,499 (GRCm39) |
V160L |
probably benign |
Het |
| Pcnt |
T |
C |
10: 76,210,704 (GRCm39) |
E2473G |
possibly damaging |
Het |
| Prkd3 |
C |
A |
17: 79,290,987 (GRCm39) |
W176L |
probably damaging |
Het |
| Prpf39 |
C |
T |
12: 65,103,040 (GRCm39) |
A438V |
probably damaging |
Het |
| Rpgrip1 |
T |
A |
14: 52,384,856 (GRCm39) |
F655I |
probably damaging |
Het |
| Rrp12 |
T |
C |
19: 41,880,990 (GRCm39) |
Y147C |
probably damaging |
Het |
| Sec23b |
A |
T |
2: 144,416,638 (GRCm39) |
N429Y |
possibly damaging |
Het |
| Slc2a10 |
T |
A |
2: 165,356,684 (GRCm39) |
S115T |
probably damaging |
Het |
| Spg11 |
A |
C |
2: 121,905,813 (GRCm39) |
D1277E |
probably benign |
Het |
| Sspo |
A |
G |
6: 48,437,454 (GRCm39) |
D1279G |
probably damaging |
Het |
| St18 |
T |
C |
1: 6,898,061 (GRCm39) |
I621T |
probably benign |
Het |
| Tbc1d31 |
T |
A |
15: 57,783,438 (GRCm39) |
D112E |
possibly damaging |
Het |
| Tdpoz6 |
C |
A |
3: 93,599,419 (GRCm39) |
V317L |
probably benign |
Het |
| Tgm4 |
A |
T |
9: 122,885,595 (GRCm39) |
D379V |
probably damaging |
Het |
| Thyn1 |
A |
T |
9: 26,914,893 (GRCm39) |
D15V |
possibly damaging |
Het |
| Timd6 |
A |
G |
11: 46,468,207 (GRCm39) |
T94A |
probably damaging |
Het |
| Tm4sf19 |
T |
C |
16: 32,226,712 (GRCm39) |
V167A |
possibly damaging |
Het |
| Trim38 |
A |
C |
13: 23,975,474 (GRCm39) |
Q471P |
probably benign |
Het |
| Trmt1 |
T |
A |
8: 85,424,384 (GRCm39) |
|
probably benign |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Usp9y |
T |
C |
Y: 1,336,375 (GRCm39) |
I1500V |
probably benign |
Het |
| Vgll4 |
C |
T |
6: 114,867,573 (GRCm39) |
|
probably null |
Het |
| Vmn1r173 |
T |
A |
7: 23,402,441 (GRCm39) |
N225K |
probably damaging |
Het |
| Vmn2r22 |
C |
T |
6: 123,614,913 (GRCm39) |
G226R |
probably damaging |
Het |
| Wnk3 |
C |
A |
X: 150,016,209 (GRCm39) |
P555Q |
probably benign |
Het |
| Yes1 |
T |
G |
5: 32,797,929 (GRCm39) |
Y83D |
possibly damaging |
Het |
| Zdhhc15 |
G |
A |
X: 103,604,294 (GRCm39) |
R322* |
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 |
|
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 |
|
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'- TAAGGTGCAGCAGCTCACAG -3'
(R):5'- GGTAGCTCTTCAAGATTGCTCAG -3'
Sequencing Primer
(F):5'- GACACCGAAAGCAGTCCATGTC -3'
(R):5'- AGATTGCAGAAAGTGACTCTCC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation