Incidental Mutation 'R0530:Pitpnm2'
| ID |
49096 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pitpnm2
|
| Ensembl Gene |
ENSMUSG00000029406 |
| Gene Name |
phosphatidylinositol transfer protein, membrane-associated 2 |
| Synonyms |
RDGBA2, NIR3, Rdgb2 |
| MMRRC Submission |
038722-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0530 (G1)
|
| Quality Score |
196 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
124256753-124387823 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 124269264 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 453
(F453L)
|
| 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: F453L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000083292
Gene: ENSMUSG00000029406
AA Change: F453L
| 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: ENSMUST00000159010
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159677
|
| SMART Domains |
Protein: ENSMUSP00000143269
Gene: ENSMUSG00000029406
| 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: F453L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000124292
Gene: ENSMUSG00000029406
AA Change: F453L
| 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 damaging
Transcript: ENSMUST00000161938
AA Change: F453L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124111
Gene: ENSMUSG00000029406
AA Change: F453L
| 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: F453L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124740
Gene: ENSMUSG00000029406
AA Change: F453L
| 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 |
0.1497 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.7%
- 10x: 96.6%
- 20x: 93.1%
|
| Validation Efficiency |
96% (51/53) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
A |
G |
5: 105,083,920 (GRCm39) |
W617R |
probably damaging |
Het |
| Adam34l |
A |
T |
8: 44,079,568 (GRCm39) |
C219S |
probably benign |
Het |
| Cep83 |
A |
T |
10: 94,555,450 (GRCm39) |
|
probably benign |
Het |
| Ces1e |
G |
A |
8: 93,946,149 (GRCm39) |
|
probably benign |
Het |
| Ckap2 |
A |
G |
8: 22,665,988 (GRCm39) |
|
probably benign |
Het |
| Clip1 |
C |
A |
5: 123,778,594 (GRCm39) |
R443L |
probably damaging |
Het |
| Clmp |
A |
G |
9: 40,672,302 (GRCm39) |
D44G |
probably benign |
Het |
| Cntnap2 |
G |
A |
6: 46,506,839 (GRCm39) |
Q304* |
probably null |
Het |
| Cst7 |
A |
T |
2: 150,412,435 (GRCm39) |
|
probably benign |
Het |
| Dclk3 |
A |
T |
9: 111,311,789 (GRCm39) |
Y677F |
probably damaging |
Het |
| Dlat |
G |
T |
9: 50,548,869 (GRCm39) |
N562K |
probably damaging |
Het |
| Elmod1 |
A |
T |
9: 53,833,260 (GRCm39) |
Y182N |
probably damaging |
Het |
| Fzd10 |
T |
C |
5: 128,679,077 (GRCm39) |
F266L |
probably damaging |
Het |
| Gm8258 |
A |
G |
5: 104,923,952 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9742 |
T |
A |
13: 8,080,041 (GRCm39) |
|
noncoding transcript |
Het |
| Hdlbp |
T |
C |
1: 93,358,039 (GRCm39) |
|
probably benign |
Het |
| Itga8 |
A |
G |
2: 12,196,627 (GRCm39) |
S597P |
probably damaging |
Het |
| Kndc1 |
A |
T |
7: 139,481,153 (GRCm39) |
I80F |
probably damaging |
Het |
| Ktn1 |
A |
G |
14: 47,970,700 (GRCm39) |
N1192S |
probably benign |
Het |
| Ldha |
G |
A |
7: 46,503,417 (GRCm39) |
V270M |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,931,891 (GRCm39) |
|
probably benign |
Het |
| Map3k9 |
A |
T |
12: 81,769,256 (GRCm39) |
F954I |
probably benign |
Het |
| Mroh2b |
A |
G |
15: 4,963,877 (GRCm39) |
N823S |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,419,895 (GRCm39) |
N2480K |
probably damaging |
Het |
| Nat1 |
A |
G |
8: 67,943,977 (GRCm39) |
K121E |
probably benign |
Het |
| Neurl1b |
T |
A |
17: 26,660,519 (GRCm39) |
|
probably null |
Het |
| Nnt |
C |
A |
13: 119,531,257 (GRCm39) |
L163F |
probably damaging |
Het |
| Or10v5 |
A |
G |
19: 11,805,556 (GRCm39) |
V278A |
probably benign |
Het |
| Otog |
A |
G |
7: 45,947,668 (GRCm39) |
T2274A |
probably damaging |
Het |
| Pde4b |
G |
A |
4: 102,459,848 (GRCm39) |
R561Q |
probably damaging |
Het |
| Pms1 |
T |
C |
1: 53,235,972 (GRCm39) |
|
probably null |
Het |
| Pot1a |
A |
G |
6: 25,771,540 (GRCm39) |
V227A |
possibly damaging |
Het |
| Prdx6b |
A |
G |
2: 80,123,659 (GRCm39) |
N156S |
probably damaging |
Het |
| Ptpn9 |
A |
G |
9: 56,968,417 (GRCm39) |
S586G |
probably benign |
Het |
| Serpina6 |
A |
T |
12: 103,618,053 (GRCm39) |
N253K |
probably damaging |
Het |
| Slc12a2 |
T |
A |
18: 58,052,608 (GRCm39) |
V809D |
possibly damaging |
Het |
| Slc2a8 |
C |
T |
2: 32,863,696 (GRCm39) |
A449T |
probably benign |
Het |
| Slc6a6 |
A |
G |
6: 91,701,939 (GRCm39) |
I116V |
probably null |
Het |
| Synj2 |
T |
A |
17: 6,058,380 (GRCm39) |
S58R |
possibly damaging |
Het |
| Tafa3 |
T |
C |
3: 104,679,487 (GRCm39) |
|
probably benign |
Het |
| Tktl2 |
T |
C |
8: 66,965,831 (GRCm39) |
V463A |
probably damaging |
Het |
| Uchl5 |
T |
C |
1: 143,670,082 (GRCm39) |
V105A |
possibly damaging |
Het |
| Usp9y |
T |
C |
Y: 1,333,600 (GRCm39) |
|
probably benign |
Het |
| Vmn1r200 |
T |
C |
13: 22,579,667 (GRCm39) |
S148P |
probably damaging |
Het |
| Vmn2r50 |
A |
T |
7: 9,781,644 (GRCm39) |
M367K |
possibly damaging |
Het |
| Vps13a |
T |
C |
19: 16,632,570 (GRCm39) |
|
probably benign |
Het |
| Wdr26 |
A |
T |
1: 181,013,635 (GRCm39) |
|
probably null |
Het |
| Wdr87-ps |
A |
G |
7: 29,229,545 (GRCm39) |
|
noncoding transcript |
Het |
| Ythdc2 |
T |
A |
18: 44,983,465 (GRCm39) |
M544K |
probably damaging |
Het |
| Zpld2 |
A |
G |
4: 133,930,221 (GRCm39) |
I28T |
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 |
|
|
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 |
|
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'- ATCTTGTCTGCATGGGCTCTGC -3'
(R):5'- TGGGCTACATCACTCCATCTCCAG -3'
Sequencing Primer
(F):5'- AGCCATGCAATGCTCAGG -3'
(R):5'- AAGATTCACGTGCTGCTGC -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation