Incidental Mutation 'R5069:Pitpnm1'
ID |
388592 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pitpnm1
|
Ensembl Gene |
ENSMUSG00000024851 |
Gene Name |
phosphatidylinositol transfer protein, membrane-associated 1 |
Synonyms |
RdgB, DRES9 |
MMRRC Submission |
042659-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5069 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
4150012-4163966 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 4161140 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 897
(A897V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097599
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025767]
[ENSMUST00000049658]
[ENSMUST00000100022]
[ENSMUST00000117831]
[ENSMUST00000121402]
|
AlphaFold |
O35954 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025767
|
SMART Domains |
Protein: ENSMUSP00000025767 Gene: ENSMUSG00000024847
Domain | Start | End | E-Value | Type |
Pfam:FKBP_C
|
26 |
155 |
5.3e-11 |
PFAM |
PDB:4APO|B
|
166 |
330 |
1e-113 |
PDB |
SCOP:d1ihga1
|
170 |
322 |
1e-14 |
SMART |
Blast:TPR
|
231 |
264 |
3e-7 |
BLAST |
Blast:TPR
|
265 |
298 |
7e-7 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000049658
AA Change: A897V
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000054309 Gene: ENSMUSG00000024851 AA Change: A897V
Domain | Start | End | E-Value | Type |
Pfam:IP_trans
|
1 |
252 |
2e-145 |
PFAM |
low complexity region
|
284 |
304 |
N/A |
INTRINSIC |
low complexity region
|
310 |
319 |
N/A |
INTRINSIC |
low complexity region
|
342 |
349 |
N/A |
INTRINSIC |
low complexity region
|
514 |
522 |
N/A |
INTRINSIC |
low complexity region
|
557 |
571 |
N/A |
INTRINSIC |
low complexity region
|
578 |
593 |
N/A |
INTRINSIC |
DDHD
|
685 |
879 |
5.94e-86 |
SMART |
Blast:DDHD
|
880 |
963 |
2e-42 |
BLAST |
LNS2
|
1022 |
1153 |
1.35e-57 |
SMART |
low complexity region
|
1184 |
1195 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000100022
AA Change: A897V
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000097599 Gene: ENSMUSG00000024851 AA Change: A897V
Domain | Start | End | E-Value | Type |
Pfam:IP_trans
|
1 |
250 |
1.6e-113 |
PFAM |
low complexity region
|
284 |
304 |
N/A |
INTRINSIC |
low complexity region
|
310 |
319 |
N/A |
INTRINSIC |
low complexity region
|
342 |
349 |
N/A |
INTRINSIC |
low complexity region
|
514 |
522 |
N/A |
INTRINSIC |
low complexity region
|
557 |
571 |
N/A |
INTRINSIC |
low complexity region
|
578 |
593 |
N/A |
INTRINSIC |
DDHD
|
685 |
879 |
5.94e-86 |
SMART |
Blast:DDHD
|
880 |
963 |
2e-42 |
BLAST |
LNS2
|
1022 |
1153 |
1.35e-57 |
SMART |
low complexity region
|
1184 |
1195 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117831
|
SMART Domains |
Protein: ENSMUSP00000113807 Gene: ENSMUSG00000024847
Domain | Start | End | E-Value | Type |
Pfam:FKBP_C
|
26 |
155 |
1e-10 |
PFAM |
PDB:4APO|B
|
166 |
330 |
1e-113 |
PDB |
SCOP:d1ihga1
|
170 |
322 |
1e-14 |
SMART |
Blast:TPR
|
231 |
264 |
3e-7 |
BLAST |
Blast:TPR
|
265 |
298 |
7e-7 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000121402
|
SMART Domains |
Protein: ENSMUSP00000114096 Gene: ENSMUSG00000024847
Domain | Start | End | E-Value | Type |
Pfam:FKBP_C
|
26 |
155 |
1.5e-11 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125596
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126620
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145214
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151957
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127056
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139427
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145915
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128798
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.5%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PITPNM1 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: Mice homozygous for a knock-out allele exhibit male-specific decrease in circulating cholesterol and circulating calcium levels and female-specific decreased leukocyte cell numbers and a slight increase in auditory brainstem response. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
A |
G |
14: 32,383,749 (GRCm39) |
S739P |
possibly damaging |
Het |
AAdacl4fm3 |
T |
A |
4: 144,430,437 (GRCm39) |
D184V |
probably damaging |
Het |
Actn2 |
A |
G |
13: 12,303,408 (GRCm39) |
I464T |
possibly damaging |
Het |
Adcy7 |
T |
C |
8: 89,054,325 (GRCm39) |
L1060P |
probably damaging |
Het |
Aff3 |
A |
G |
1: 38,220,694 (GRCm39) |
|
probably null |
Het |
Ankar |
T |
C |
1: 72,719,369 (GRCm39) |
|
probably null |
Het |
Ankrd27 |
A |
T |
7: 35,327,860 (GRCm39) |
K793N |
probably damaging |
Het |
Arhgef28 |
T |
C |
13: 98,211,714 (GRCm39) |
T90A |
probably damaging |
Het |
Armc9 |
A |
T |
1: 86,184,959 (GRCm39) |
H670L |
probably benign |
Het |
Arvcf |
A |
G |
16: 18,217,736 (GRCm39) |
Y412C |
probably damaging |
Het |
Ass1 |
C |
T |
2: 31,400,185 (GRCm39) |
T301M |
probably damaging |
Het |
Baiap3 |
A |
T |
17: 25,468,082 (GRCm39) |
C283S |
probably damaging |
Het |
Birc6 |
C |
T |
17: 74,872,967 (GRCm39) |
R409C |
probably damaging |
Het |
Calcoco1 |
A |
G |
15: 102,619,527 (GRCm39) |
L354P |
probably damaging |
Het |
Cdh3 |
A |
G |
8: 107,263,458 (GRCm39) |
N126S |
probably benign |
Het |
Cfap54 |
A |
C |
10: 92,773,636 (GRCm39) |
F135L |
probably benign |
Het |
Dlg1 |
G |
T |
16: 31,503,113 (GRCm39) |
|
probably null |
Het |
Dnah3 |
T |
C |
7: 119,632,013 (GRCm39) |
H1314R |
probably benign |
Het |
Dsp |
A |
C |
13: 38,381,099 (GRCm39) |
T2615P |
possibly damaging |
Het |
Elapor2 |
T |
A |
5: 9,490,897 (GRCm39) |
C636S |
probably damaging |
Het |
Enpp2 |
T |
C |
15: 54,727,450 (GRCm39) |
Y513C |
probably damaging |
Het |
Ercc6 |
T |
C |
14: 32,292,020 (GRCm39) |
V1128A |
probably benign |
Het |
Firrm |
T |
C |
1: 163,815,243 (GRCm39) |
T93A |
possibly damaging |
Het |
Gipc2 |
A |
G |
3: 151,799,885 (GRCm39) |
F282L |
probably benign |
Het |
Gm1043 |
T |
G |
5: 37,344,580 (GRCm39) |
L231R |
probably damaging |
Het |
Gpr153 |
T |
A |
4: 152,364,340 (GRCm39) |
M132K |
probably damaging |
Het |
Hbs1l |
T |
A |
10: 21,230,546 (GRCm39) |
S496T |
probably damaging |
Het |
Inpp5f |
A |
G |
7: 128,278,451 (GRCm39) |
|
probably null |
Het |
Kat6a |
G |
A |
8: 23,393,149 (GRCm39) |
C209Y |
probably damaging |
Het |
Kcna2 |
T |
A |
3: 107,011,953 (GRCm39) |
V178D |
probably damaging |
Het |
Krt75 |
A |
G |
15: 101,474,673 (GRCm39) |
|
probably null |
Het |
Letm2 |
G |
A |
8: 26,083,980 (GRCm39) |
Q84* |
probably null |
Het |
Mib1 |
A |
G |
18: 10,793,002 (GRCm39) |
E646G |
probably damaging |
Het |
Mmp14 |
T |
A |
14: 54,676,570 (GRCm39) |
Y372N |
probably damaging |
Het |
Muc6 |
A |
G |
7: 141,237,564 (GRCm39) |
C218R |
probably damaging |
Het |
Myof |
A |
T |
19: 37,893,773 (GRCm39) |
I1130N |
possibly damaging |
Het |
Neil3 |
A |
G |
8: 54,054,076 (GRCm39) |
S318P |
possibly damaging |
Het |
Nhlh1 |
A |
G |
1: 171,881,467 (GRCm39) |
V133A |
probably benign |
Het |
Nup153 |
A |
C |
13: 46,863,268 (GRCm39) |
S331A |
probably benign |
Het |
Nup98 |
T |
C |
7: 101,794,862 (GRCm39) |
T882A |
probably benign |
Het |
Or11g2 |
T |
A |
14: 50,856,197 (GRCm39) |
C173S |
probably damaging |
Het |
Or11h4 |
C |
A |
14: 50,974,531 (GRCm39) |
L29F |
probably benign |
Het |
Or52ab4 |
A |
T |
7: 102,987,229 (GRCm39) |
|
probably null |
Het |
Or9s23 |
T |
A |
1: 92,501,135 (GRCm39) |
S81T |
probably damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pald1 |
A |
T |
10: 61,177,025 (GRCm39) |
M675K |
possibly damaging |
Het |
Pex5 |
A |
G |
6: 124,390,555 (GRCm39) |
S97P |
probably benign |
Het |
Plxnd1 |
A |
T |
6: 115,942,862 (GRCm39) |
V1274E |
probably damaging |
Het |
Polr2a |
T |
C |
11: 69,627,561 (GRCm39) |
|
probably null |
Het |
Ppfia1 |
G |
A |
7: 144,068,210 (GRCm39) |
Q446* |
probably null |
Het |
Psma2 |
G |
A |
13: 14,790,613 (GRCm39) |
V20I |
probably benign |
Het |
Pwwp4a |
T |
C |
X: 72,171,577 (GRCm39) |
I323T |
probably damaging |
Het |
Rhbdl2 |
T |
A |
4: 123,711,710 (GRCm39) |
L149* |
probably null |
Het |
Rnf17 |
T |
C |
14: 56,743,385 (GRCm39) |
V1317A |
probably damaging |
Het |
Rtel1 |
G |
A |
2: 180,997,285 (GRCm39) |
V1042M |
probably benign |
Het |
Sidt2 |
A |
T |
9: 45,850,759 (GRCm39) |
|
probably null |
Het |
Slc11a1 |
G |
A |
1: 74,424,343 (GRCm39) |
A434T |
probably damaging |
Het |
Slc28a2b |
A |
T |
2: 122,324,854 (GRCm39) |
N142I |
possibly damaging |
Het |
Slc4a10 |
G |
A |
2: 62,097,915 (GRCm39) |
R508H |
probably benign |
Het |
Slc5a8 |
A |
T |
10: 88,722,460 (GRCm39) |
I98F |
possibly damaging |
Het |
Slf2 |
T |
A |
19: 44,923,692 (GRCm39) |
S169T |
possibly damaging |
Het |
Snx33 |
A |
T |
9: 56,833,475 (GRCm39) |
I198N |
probably damaging |
Het |
Spock3 |
A |
G |
8: 63,808,299 (GRCm39) |
T396A |
probably benign |
Het |
Sva |
A |
T |
6: 42,015,351 (GRCm39) |
|
probably benign |
Het |
Syt7 |
A |
G |
19: 10,416,601 (GRCm39) |
N261S |
probably benign |
Het |
Taar7b |
T |
G |
10: 23,876,359 (GRCm39) |
S175A |
probably benign |
Het |
Thoc2 |
C |
T |
X: 40,895,570 (GRCm39) |
E1491K |
probably damaging |
Het |
Tlr1 |
T |
C |
5: 65,083,743 (GRCm39) |
Y278C |
probably benign |
Het |
Tph2 |
T |
A |
10: 114,987,079 (GRCm39) |
Y237F |
probably benign |
Het |
Trim35 |
C |
T |
14: 66,546,421 (GRCm39) |
|
probably benign |
Het |
Trpm4 |
T |
G |
7: 44,959,893 (GRCm39) |
Y667S |
probably damaging |
Het |
Ttc27 |
T |
A |
17: 75,106,337 (GRCm39) |
H541Q |
probably damaging |
Het |
Ube4a |
T |
C |
9: 44,851,387 (GRCm39) |
H709R |
probably damaging |
Het |
Vwa7 |
G |
A |
17: 35,243,166 (GRCm39) |
V615I |
probably benign |
Het |
Wars2 |
A |
G |
3: 99,094,849 (GRCm39) |
H48R |
probably damaging |
Het |
Xlr4c |
T |
A |
X: 72,282,290 (GRCm39) |
K121M |
probably damaging |
Het |
Zfc3h1 |
T |
A |
10: 115,254,688 (GRCm39) |
C1427* |
probably null |
Het |
|
Other mutations in Pitpnm1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00886:Pitpnm1
|
APN |
19 |
4,160,665 (GRCm39) |
splice site |
probably null |
|
IGL00978:Pitpnm1
|
APN |
19 |
4,151,228 (GRCm39) |
missense |
possibly damaging |
0.61 |
IGL02039:Pitpnm1
|
APN |
19 |
4,155,032 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02122:Pitpnm1
|
APN |
19 |
4,157,796 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02279:Pitpnm1
|
APN |
19 |
4,151,207 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02316:Pitpnm1
|
APN |
19 |
4,162,835 (GRCm39) |
missense |
probably benign |
0.16 |
IGL02434:Pitpnm1
|
APN |
19 |
4,153,377 (GRCm39) |
missense |
probably benign |
0.00 |
R0926:Pitpnm1
|
UTSW |
19 |
4,162,338 (GRCm39) |
missense |
probably damaging |
1.00 |
R1301:Pitpnm1
|
UTSW |
19 |
4,160,831 (GRCm39) |
splice site |
probably null |
|
R1423:Pitpnm1
|
UTSW |
19 |
4,162,392 (GRCm39) |
missense |
probably damaging |
1.00 |
R1592:Pitpnm1
|
UTSW |
19 |
4,156,964 (GRCm39) |
critical splice donor site |
probably null |
|
R1733:Pitpnm1
|
UTSW |
19 |
4,159,960 (GRCm39) |
nonsense |
probably null |
|
R1844:Pitpnm1
|
UTSW |
19 |
4,162,395 (GRCm39) |
missense |
probably damaging |
1.00 |
R1971:Pitpnm1
|
UTSW |
19 |
4,162,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R1978:Pitpnm1
|
UTSW |
19 |
4,157,973 (GRCm39) |
splice site |
probably null |
|
R2016:Pitpnm1
|
UTSW |
19 |
4,161,873 (GRCm39) |
missense |
probably benign |
0.25 |
R2017:Pitpnm1
|
UTSW |
19 |
4,161,873 (GRCm39) |
missense |
probably benign |
0.25 |
R2019:Pitpnm1
|
UTSW |
19 |
4,163,641 (GRCm39) |
missense |
probably damaging |
1.00 |
R2210:Pitpnm1
|
UTSW |
19 |
4,155,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R2393:Pitpnm1
|
UTSW |
19 |
4,160,935 (GRCm39) |
missense |
probably benign |
0.02 |
R3434:Pitpnm1
|
UTSW |
19 |
4,162,234 (GRCm39) |
missense |
probably damaging |
1.00 |
R3439:Pitpnm1
|
UTSW |
19 |
4,162,752 (GRCm39) |
missense |
probably benign |
0.00 |
R4554:Pitpnm1
|
UTSW |
19 |
4,153,085 (GRCm39) |
missense |
probably benign |
0.16 |
R4555:Pitpnm1
|
UTSW |
19 |
4,153,085 (GRCm39) |
missense |
probably benign |
0.16 |
R4557:Pitpnm1
|
UTSW |
19 |
4,153,085 (GRCm39) |
missense |
probably benign |
0.16 |
R4831:Pitpnm1
|
UTSW |
19 |
4,158,130 (GRCm39) |
missense |
probably damaging |
1.00 |
R4874:Pitpnm1
|
UTSW |
19 |
4,162,252 (GRCm39) |
critical splice donor site |
probably null |
|
R5058:Pitpnm1
|
UTSW |
19 |
4,162,758 (GRCm39) |
missense |
probably benign |
0.00 |
R5249:Pitpnm1
|
UTSW |
19 |
4,158,130 (GRCm39) |
missense |
probably damaging |
1.00 |
R5288:Pitpnm1
|
UTSW |
19 |
4,153,435 (GRCm39) |
missense |
probably damaging |
0.99 |
R5385:Pitpnm1
|
UTSW |
19 |
4,153,435 (GRCm39) |
missense |
probably damaging |
0.99 |
R5619:Pitpnm1
|
UTSW |
19 |
4,153,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R5650:Pitpnm1
|
UTSW |
19 |
4,153,319 (GRCm39) |
missense |
possibly damaging |
0.78 |
R6267:Pitpnm1
|
UTSW |
19 |
4,160,522 (GRCm39) |
missense |
probably damaging |
1.00 |
R6341:Pitpnm1
|
UTSW |
19 |
4,152,829 (GRCm39) |
nonsense |
probably null |
|
R6608:Pitpnm1
|
UTSW |
19 |
4,160,875 (GRCm39) |
missense |
probably damaging |
1.00 |
R6739:Pitpnm1
|
UTSW |
19 |
4,160,522 (GRCm39) |
missense |
probably damaging |
1.00 |
R6915:Pitpnm1
|
UTSW |
19 |
4,156,947 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7141:Pitpnm1
|
UTSW |
19 |
4,152,787 (GRCm39) |
missense |
probably damaging |
0.97 |
R7751:Pitpnm1
|
UTSW |
19 |
4,153,470 (GRCm39) |
missense |
probably benign |
0.02 |
R8057:Pitpnm1
|
UTSW |
19 |
4,162,145 (GRCm39) |
missense |
probably null |
0.71 |
R8210:Pitpnm1
|
UTSW |
19 |
4,162,878 (GRCm39) |
critical splice donor site |
probably null |
|
R8415:Pitpnm1
|
UTSW |
19 |
4,155,454 (GRCm39) |
missense |
probably benign |
0.37 |
R8462:Pitpnm1
|
UTSW |
19 |
4,155,135 (GRCm39) |
missense |
probably benign |
0.03 |
R8808:Pitpnm1
|
UTSW |
19 |
4,162,356 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9060:Pitpnm1
|
UTSW |
19 |
4,156,869 (GRCm39) |
missense |
probably damaging |
0.96 |
R9646:Pitpnm1
|
UTSW |
19 |
4,153,269 (GRCm39) |
missense |
probably damaging |
1.00 |
R9766:Pitpnm1
|
UTSW |
19 |
4,158,117 (GRCm39) |
missense |
probably benign |
0.10 |
Z1177:Pitpnm1
|
UTSW |
19 |
4,159,996 (GRCm39) |
missense |
probably null |
1.00 |
Z1177:Pitpnm1
|
UTSW |
19 |
4,155,009 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATGTAGTGGCCTTCATTCTGCG -3'
(R):5'- AAGCTTCCTGGCAGTCAGAG -3'
Sequencing Primer
(F):5'- CTTCATTCTGCGCCAGGTGAG -3'
(R):5'- TTCCTGGCAGTCAGAGCAGAC -3'
|
Posted On |
2016-06-06 |