Incidental Mutation 'R4426:Pitpnm2'
| ID |
328157 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pitpnm2
|
| Ensembl Gene |
ENSMUSG00000029406 |
| Gene Name |
phosphatidylinositol transfer protein, membrane-associated 2 |
| Synonyms |
RDGBA2, NIR3, Rdgb2 |
| MMRRC Submission |
041697-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4426 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
124256753-124387823 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 124280186 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 121
(E121K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124292
(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: E121K
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000083292
Gene: ENSMUSG00000029406
AA Change: E121K
| 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
AA Change: E121K
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000143269
Gene: ENSMUSG00000029406
AA Change: E121K
| 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: E121K
PolyPhen 2
Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000124292
Gene: ENSMUSG00000029406
AA Change: E121K
| 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 |
noncoding transcript
Transcript: ENSMUST00000161530
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161644
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161938
AA Change: E121K
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000124111
Gene: ENSMUSG00000029406
AA Change: E121K
| 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: E121K
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000124740
Gene: ENSMUSG00000029406
AA Change: E121K
| 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: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Albfm1 |
G |
T |
5: 90,720,642 (GRCm39) |
C271F |
probably damaging |
Het |
| Arhgef39 |
C |
T |
4: 43,497,112 (GRCm39) |
G293E |
possibly damaging |
Het |
| Atp8a1 |
A |
C |
5: 67,932,171 (GRCm39) |
I206S |
probably benign |
Het |
| Cacnb2 |
A |
T |
2: 14,980,026 (GRCm39) |
R290* |
probably null |
Het |
| Ccdc137 |
T |
C |
11: 120,351,074 (GRCm39) |
S159P |
probably damaging |
Het |
| Chil5 |
A |
G |
3: 105,926,943 (GRCm39) |
S231P |
probably damaging |
Het |
| Cic |
C |
T |
7: 24,993,433 (GRCm39) |
|
probably benign |
Het |
| Csmd3 |
A |
G |
15: 47,532,581 (GRCm39) |
V2434A |
possibly damaging |
Het |
| Csnk1a1 |
A |
G |
18: 61,718,381 (GRCm39) |
|
probably benign |
Het |
| Eif4e1b |
T |
C |
13: 54,932,296 (GRCm39) |
S49P |
probably benign |
Het |
| Far1 |
C |
A |
7: 113,149,208 (GRCm39) |
P194Q |
probably benign |
Het |
| Fut4 |
T |
C |
9: 14,662,677 (GRCm39) |
T206A |
possibly damaging |
Het |
| Galnt7 |
G |
T |
8: 58,005,606 (GRCm39) |
S209* |
probably null |
Het |
| Gas2l1 |
A |
G |
11: 5,013,908 (GRCm39) |
V184A |
probably benign |
Het |
| Herc1 |
T |
C |
9: 66,403,287 (GRCm39) |
L4402P |
probably damaging |
Het |
| Hoxa13 |
C |
A |
6: 52,237,714 (GRCm39) |
|
probably benign |
Het |
| Ighv1-9 |
T |
A |
12: 114,547,416 (GRCm39) |
K42* |
probably null |
Het |
| Kif20a |
C |
T |
18: 34,764,994 (GRCm39) |
R743W |
probably damaging |
Het |
| Lama2 |
G |
A |
10: 27,298,554 (GRCm39) |
R181C |
probably damaging |
Het |
| Lrp2 |
G |
T |
2: 69,336,692 (GRCm39) |
T1360K |
probably benign |
Het |
| Map4k1 |
G |
A |
7: 28,688,020 (GRCm39) |
V177I |
probably damaging |
Het |
| Nbea |
G |
A |
3: 55,989,800 (GRCm39) |
T352I |
probably damaging |
Het |
| Nde1 |
A |
G |
16: 14,006,200 (GRCm39) |
T82A |
possibly damaging |
Het |
| Nes |
A |
G |
3: 87,883,349 (GRCm39) |
E536G |
probably damaging |
Het |
| Nms |
C |
T |
1: 38,978,377 (GRCm39) |
P4L |
probably benign |
Het |
| Nrip1 |
T |
C |
16: 76,088,293 (GRCm39) |
Q1088R |
possibly damaging |
Het |
| Nwd1 |
A |
G |
8: 73,393,423 (GRCm39) |
K229E |
probably damaging |
Het |
| Or51f1d |
T |
C |
7: 102,701,018 (GRCm39) |
L171P |
probably damaging |
Het |
| Or52ad1 |
A |
G |
7: 102,995,290 (GRCm39) |
Y282H |
probably damaging |
Het |
| Pcdhac2 |
T |
A |
18: 37,277,796 (GRCm39) |
S259T |
probably benign |
Het |
| Pdcd5 |
T |
C |
7: 35,345,605 (GRCm39) |
D102G |
possibly damaging |
Het |
| Pgm1 |
T |
C |
4: 99,819,337 (GRCm39) |
V169A |
probably benign |
Het |
| Plin3 |
T |
C |
17: 56,593,555 (GRCm39) |
Y53C |
probably damaging |
Het |
| Poc1b |
T |
C |
10: 98,991,001 (GRCm39) |
|
probably null |
Het |
| Polr2c |
A |
T |
8: 95,590,090 (GRCm39) |
N232Y |
probably damaging |
Het |
| Ppp1r9b |
A |
T |
11: 94,892,150 (GRCm39) |
R188S |
possibly damaging |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rab3gap2 |
G |
A |
1: 184,967,539 (GRCm39) |
S141N |
probably damaging |
Het |
| Radx |
T |
C |
X: 138,381,645 (GRCm39) |
V134A |
possibly damaging |
Het |
| Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
| Rnf166 |
A |
G |
8: 123,196,979 (GRCm39) |
L91P |
probably damaging |
Het |
| Robo2 |
T |
A |
16: 73,745,154 (GRCm39) |
M200L |
probably damaging |
Het |
| Rp1 |
A |
T |
1: 4,418,147 (GRCm39) |
H988Q |
probably benign |
Het |
| Sbno2 |
T |
C |
10: 79,908,192 (GRCm39) |
K69R |
probably null |
Het |
| Sgce |
G |
A |
6: 4,691,459 (GRCm39) |
A295V |
probably damaging |
Het |
| Shc3 |
C |
G |
13: 51,634,130 (GRCm39) |
|
probably null |
Het |
| Slc44a1 |
T |
C |
4: 53,563,286 (GRCm39) |
V671A |
probably benign |
Het |
| Sptbn4 |
A |
C |
7: 27,123,223 (GRCm39) |
L233R |
probably damaging |
Het |
| Stx5a |
A |
G |
19: 8,727,104 (GRCm39) |
T252A |
probably benign |
Het |
| Timd6 |
T |
A |
11: 46,475,247 (GRCm39) |
F147L |
probably benign |
Het |
| Tmem87b |
C |
T |
2: 128,688,670 (GRCm39) |
A485V |
probably benign |
Het |
| Tns1 |
A |
G |
1: 74,024,908 (GRCm39) |
I403T |
probably damaging |
Het |
| Ttll10 |
G |
C |
4: 156,133,018 (GRCm39) |
T22R |
possibly damaging |
Het |
| Uevld |
A |
T |
7: 46,589,890 (GRCm39) |
S293T |
probably benign |
Het |
| Utp18 |
T |
C |
11: 93,757,264 (GRCm39) |
N467D |
probably damaging |
Het |
| Vmn1r39 |
A |
T |
6: 66,782,345 (GRCm39) |
|
probably null |
Het |
| Vmn2r106 |
A |
G |
17: 20,505,641 (GRCm39) |
S18P |
probably benign |
Het |
| Vmn2r61 |
A |
T |
7: 41,950,157 (GRCm39) |
H859L |
probably benign |
Het |
| Vmn2r61 |
T |
C |
7: 41,950,159 (GRCm39) |
S860P |
probably benign |
Het |
| Vmn2r72 |
G |
A |
7: 85,387,036 (GRCm39) |
R843* |
probably null |
Het |
| Vwc2 |
A |
G |
11: 11,104,235 (GRCm39) |
T256A |
probably damaging |
Het |
| Zfp715 |
T |
C |
7: 42,960,516 (GRCm39) |
D25G |
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 |
|
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'- AGCTGAGAATCCAGTGCAC -3'
(R):5'- TGTCACATCTTTAGCCAACACC -3'
Sequencing Primer
(F):5'- TGAGAATCCAGTGCACTCTCAGG -3'
(R):5'- TGGAGCAGTAGCCAAGACCTTTC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation