Incidental Mutation 'R2354:Pitpnm2'
ID |
246821 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pitpnm2
|
Ensembl Gene |
ENSMUSG00000029406 |
Gene Name |
phosphatidylinositol transfer protein, membrane-associated 2 |
Synonyms |
RDGBA2, NIR3, Rdgb2 |
MMRRC Submission |
040336-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2354 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
124256753-124387823 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 124260982 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 1010
(V1010E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124740
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031351]
[ENSMUST00000086123]
[ENSMUST00000122394]
[ENSMUST00000145667]
[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 damaging
Transcript: ENSMUST00000086123
AA Change: V1010E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000083292 Gene: ENSMUSG00000029406 AA Change: V1010E
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 |
noncoding transcript
Transcript: ENSMUST00000159010
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159628
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161273
AA Change: V1060E
PolyPhen 2
Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000124292 Gene: ENSMUSG00000029406 AA Change: V1060E
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: ENSMUST00000161938
AA Change: V1064E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000124111 Gene: ENSMUSG00000029406 AA Change: V1064E
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 damaging
Transcript: ENSMUST00000162812
AA Change: V1010E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000124740 Gene: ENSMUSG00000029406 AA Change: V1010E
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 |
noncoding transcript
Transcript: ENSMUST00000161479
|
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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
Validation Efficiency |
97% (34/35) |
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap3b2 |
C |
T |
7: 81,123,598 (GRCm39) |
|
probably benign |
Het |
B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
Bpifb9b |
C |
T |
2: 154,153,662 (GRCm39) |
L243F |
probably benign |
Het |
Cd226 |
A |
T |
18: 89,265,107 (GRCm39) |
|
probably null |
Het |
Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
Cep295 |
A |
G |
9: 15,246,080 (GRCm39) |
I792T |
possibly damaging |
Het |
Cfap46 |
T |
C |
7: 139,240,962 (GRCm39) |
Y469C |
probably damaging |
Het |
Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
D630045J12Rik |
G |
A |
6: 38,135,026 (GRCm39) |
P1385S |
possibly damaging |
Het |
Ddb1 |
A |
T |
19: 10,584,337 (GRCm39) |
M64L |
probably benign |
Het |
Dyrk1b |
G |
A |
7: 27,884,797 (GRCm39) |
R404Q |
possibly damaging |
Het |
Gal3st2b |
A |
G |
1: 93,867,508 (GRCm39) |
T52A |
probably damaging |
Het |
Galk2 |
C |
A |
2: 125,773,193 (GRCm39) |
S208R |
probably benign |
Het |
Hap1 |
A |
T |
11: 100,245,541 (GRCm39) |
I141N |
probably damaging |
Het |
Hif3a |
T |
C |
7: 16,775,030 (GRCm39) |
S523G |
probably damaging |
Het |
Kirrel1 |
C |
T |
3: 86,995,792 (GRCm39) |
V381I |
probably damaging |
Het |
Lmbrd1 |
T |
C |
1: 24,724,622 (GRCm39) |
S69P |
probably damaging |
Het |
Lrriq1 |
C |
T |
10: 103,025,848 (GRCm39) |
V925M |
probably damaging |
Het |
Mmp16 |
A |
G |
4: 18,112,001 (GRCm39) |
Y459C |
probably damaging |
Het |
Mtr |
A |
G |
13: 12,203,043 (GRCm39) |
|
probably benign |
Het |
Nadk2 |
T |
A |
15: 9,085,862 (GRCm39) |
I167N |
probably damaging |
Het |
Neo1 |
A |
G |
9: 58,892,917 (GRCm39) |
F242L |
probably benign |
Het |
Prp2rt |
G |
A |
13: 97,235,309 (GRCm39) |
T146I |
probably damaging |
Het |
Semp2l2b |
G |
T |
10: 21,943,155 (GRCm39) |
T275K |
probably benign |
Het |
Shox2 |
A |
G |
3: 66,888,822 (GRCm39) |
I23T |
possibly damaging |
Het |
Slc5a12 |
T |
C |
2: 110,439,777 (GRCm39) |
V141A |
probably damaging |
Het |
Sstr5 |
A |
G |
17: 25,710,875 (GRCm39) |
I118T |
probably benign |
Het |
Taar4 |
A |
G |
10: 23,836,912 (GRCm39) |
N174S |
probably damaging |
Het |
Tpcn2 |
C |
A |
7: 144,810,955 (GRCm39) |
G581W |
probably damaging |
Het |
Umod |
C |
T |
7: 119,065,416 (GRCm39) |
V538M |
probably damaging |
Het |
Vmn2r44 |
T |
G |
7: 8,373,639 (GRCm39) |
S517R |
probably damaging |
Het |
Zc3h12d |
G |
T |
10: 7,743,702 (GRCm39) |
V491L |
probably benign |
Het |
Zfp358 |
A |
T |
8: 3,545,454 (GRCm39) |
H12L |
possibly damaging |
Het |
Zkscan7 |
A |
G |
9: 122,723,892 (GRCm39) |
D287G |
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 |
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'- CAAGGATAACTCGTCAGAACAGGC -3'
(R):5'- AAAGGTGAGGATGTGGCTCC -3'
Sequencing Primer
(F):5'- CTCGTCAGAACAGGCCAGAG -3'
(R):5'- ATGTGGCTCCCTGAGGTGAC -3'
|
Posted On |
2014-10-30 |