Incidental Mutation 'R6983:Pitpnm2'
| ID |
542778 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pitpnm2
|
| Ensembl Gene |
ENSMUSG00000029406 |
| Gene Name |
phosphatidylinositol transfer protein, membrane-associated 2 |
| Synonyms |
RDGBA2, NIR3, Rdgb2 |
| MMRRC Submission |
045090-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6983 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
124256753-124387823 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 124271469 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 368
(L368P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124740
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086123]
[ENSMUST00000159677]
[ENSMUST00000161273]
[ENSMUST00000161938]
[ENSMUST00000162812]
|
| AlphaFold |
Q6ZPQ6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086123
AA Change: L368P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000083292
Gene: ENSMUSG00000029406
AA Change: L368P
| 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 damaging
Transcript: ENSMUST00000159677
AA Change: L368P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000143269
Gene: ENSMUSG00000029406
AA Change: L368P
| 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 damaging
Transcript: ENSMUST00000161273
AA Change: L368P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124292
Gene: ENSMUSG00000029406
AA Change: L368P
| 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: L368P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124111
Gene: ENSMUSG00000029406
AA Change: L368P
| 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: L368P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124740
Gene: ENSMUSG00000029406
AA Change: L368P
| 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: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| Validation Efficiency |
98% (65/66) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
C |
7: 119,953,686 (GRCm39) |
V530A |
probably benign |
Het |
| Adgrg6 |
T |
C |
10: 14,307,439 (GRCm39) |
N816D |
probably damaging |
Het |
| Aebp2 |
T |
C |
6: 140,583,389 (GRCm39) |
F288L |
possibly damaging |
Het |
| Afdn |
T |
C |
17: 14,101,583 (GRCm39) |
S1024P |
probably damaging |
Het |
| Akap6 |
A |
C |
12: 52,934,436 (GRCm39) |
K643Q |
probably damaging |
Het |
| Atg2a |
A |
T |
19: 6,310,070 (GRCm39) |
D1751V |
probably damaging |
Het |
| Best2 |
T |
A |
8: 85,736,405 (GRCm39) |
I253F |
probably benign |
Het |
| Bmp1 |
G |
T |
14: 70,745,647 (GRCm39) |
P55T |
probably damaging |
Het |
| C1s1 |
C |
A |
6: 124,517,855 (GRCm39) |
V42F |
possibly damaging |
Het |
| Ccdc115 |
A |
G |
1: 34,478,122 (GRCm39) |
|
probably null |
Het |
| Cdc42bpg |
C |
T |
19: 6,371,698 (GRCm39) |
P1326S |
probably damaging |
Het |
| Cdhr3 |
G |
A |
12: 33,092,379 (GRCm39) |
T744I |
probably benign |
Het |
| Cit |
T |
G |
5: 116,132,150 (GRCm39) |
L1745R |
probably damaging |
Het |
| Commd6 |
A |
T |
14: 101,874,488 (GRCm39) |
S39T |
probably damaging |
Het |
| Crot |
T |
G |
5: 9,028,280 (GRCm39) |
Y223S |
probably benign |
Het |
| Crybg1 |
G |
T |
10: 43,875,338 (GRCm39) |
A590D |
probably damaging |
Het |
| Cwf19l2 |
G |
A |
9: 3,477,817 (GRCm39) |
E841K |
probably damaging |
Het |
| Dennd4c |
T |
C |
4: 86,717,730 (GRCm39) |
Y576H |
probably damaging |
Het |
| Diaph1 |
A |
T |
18: 38,022,822 (GRCm39) |
V749E |
probably damaging |
Het |
| Ell2 |
C |
A |
13: 75,910,006 (GRCm39) |
L119M |
probably damaging |
Het |
| F5 |
A |
T |
1: 164,021,698 (GRCm39) |
D1391V |
probably damaging |
Het |
| Foxf2 |
T |
A |
13: 31,811,180 (GRCm39) |
M373K |
probably benign |
Het |
| Fstl1 |
A |
T |
16: 37,651,980 (GRCm39) |
E287D |
probably benign |
Het |
| Gltpd2 |
T |
C |
11: 70,411,110 (GRCm39) |
Y134H |
probably damaging |
Het |
| Hemgn |
T |
A |
4: 46,395,997 (GRCm39) |
H413L |
possibly damaging |
Het |
| Herc2 |
G |
A |
7: 55,756,201 (GRCm39) |
R747H |
possibly damaging |
Het |
| Hykk |
T |
C |
9: 54,853,793 (GRCm39) |
S372P |
probably benign |
Het |
| Inava |
A |
G |
1: 136,147,894 (GRCm39) |
S353P |
possibly damaging |
Het |
| Ints10 |
T |
C |
8: 69,246,703 (GRCm39) |
V11A |
probably damaging |
Het |
| Khdrbs1 |
A |
G |
4: 129,614,635 (GRCm39) |
V306A |
probably benign |
Het |
| Lamtor2 |
G |
A |
3: 88,460,146 (GRCm39) |
Q9* |
probably null |
Het |
| Lonp2 |
T |
A |
8: 87,350,876 (GRCm39) |
V22E |
probably damaging |
Het |
| Mad1l1 |
T |
C |
5: 140,179,739 (GRCm39) |
E383G |
probably damaging |
Het |
| Man2b1 |
T |
A |
8: 85,817,700 (GRCm39) |
|
probably null |
Het |
| Mtch1 |
T |
C |
17: 29,557,750 (GRCm39) |
I243V |
probably damaging |
Het |
| Myo18a |
T |
A |
11: 77,736,341 (GRCm39) |
M1546K |
probably benign |
Het |
| Ntf3 |
T |
C |
6: 126,078,808 (GRCm39) |
T233A |
probably damaging |
Het |
| Omg |
T |
C |
11: 79,392,764 (GRCm39) |
S365G |
probably benign |
Het |
| Or52ad1 |
C |
T |
7: 102,996,022 (GRCm39) |
V38I |
probably benign |
Het |
| Otol1 |
T |
A |
3: 69,935,374 (GRCm39) |
N455K |
probably damaging |
Het |
| Pakap |
T |
A |
4: 57,709,973 (GRCm39) |
V306D |
probably damaging |
Het |
| Pde4dip |
A |
T |
3: 97,625,552 (GRCm39) |
Y1349N |
probably damaging |
Het |
| Pnpla8 |
T |
A |
12: 44,330,030 (GRCm39) |
I194K |
possibly damaging |
Het |
| Podn |
T |
C |
4: 107,881,470 (GRCm39) |
|
probably null |
Het |
| Potefam1 |
A |
G |
2: 111,058,595 (GRCm39) |
|
probably null |
Het |
| Pramel6 |
A |
T |
2: 87,339,923 (GRCm39) |
E229V |
possibly damaging |
Het |
| Ptpro |
C |
T |
6: 137,426,915 (GRCm39) |
P262L |
probably damaging |
Het |
| Rnf122 |
A |
T |
8: 31,608,488 (GRCm39) |
T19S |
probably benign |
Het |
| Shank2 |
T |
A |
7: 143,635,585 (GRCm39) |
Y320N |
possibly damaging |
Het |
| Slc2a9 |
A |
C |
5: 38,549,064 (GRCm39) |
I243S |
probably damaging |
Het |
| Slc5a6 |
A |
T |
5: 31,197,749 (GRCm39) |
M130K |
probably benign |
Het |
| Stx5a |
A |
G |
19: 8,732,533 (GRCm39) |
|
probably benign |
Het |
| Tbr1 |
G |
T |
2: 61,642,079 (GRCm39) |
G185V |
probably damaging |
Het |
| Tg |
A |
G |
15: 66,565,207 (GRCm39) |
D1183G |
probably benign |
Het |
| Thbs1 |
A |
T |
2: 117,950,433 (GRCm39) |
I689F |
probably damaging |
Het |
| Ticam1 |
C |
T |
17: 56,576,900 (GRCm39) |
E732K |
probably benign |
Het |
| Trgv6 |
G |
T |
13: 19,374,814 (GRCm39) |
G40W |
possibly damaging |
Het |
| Trub2 |
A |
T |
2: 29,677,796 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,597,306 (GRCm39) |
V19869A |
probably damaging |
Het |
| Tufm |
T |
C |
7: 126,088,607 (GRCm39) |
V303A |
possibly damaging |
Het |
| Vezf1 |
T |
C |
11: 87,964,145 (GRCm39) |
I99T |
possibly damaging |
Het |
| Vmn2r1 |
T |
C |
3: 63,989,118 (GRCm39) |
V19A |
probably benign |
Het |
| Xpc |
C |
T |
6: 91,481,005 (GRCm39) |
R289K |
probably damaging |
Het |
| Zfp811 |
T |
A |
17: 33,016,406 (GRCm39) |
K545* |
probably null |
Het |
| Zmiz2 |
G |
A |
11: 6,352,413 (GRCm39) |
D623N |
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 |
|
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 |
|
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'- CGATGATGTTCAGCTGCTCC -3'
(R):5'- ACAGAAGGGTAGCTGGTCTG -3'
Sequencing Primer
(F):5'- GCTGGTAGATTTCATCTGCAACAC -3'
(R):5'- TAGCTGGTCTGCAGCTGC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation