Incidental Mutation 'R8462:Pitpnm1'
ID |
656628 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pitpnm1
|
Ensembl Gene |
ENSMUSG00000024851 |
Gene Name |
phosphatidylinositol transfer protein, membrane-associated 1 |
Synonyms |
RdgB, DRES9 |
MMRRC Submission |
067906-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8462 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
4150012-4163966 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 4155135 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 321
(H321L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097599
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049658]
[ENSMUST00000100022]
[ENSMUST00000131265]
|
AlphaFold |
O35954 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000049658
AA Change: H321L
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000054309 Gene: ENSMUSG00000024851 AA Change: H321L
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: H321L
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000097599 Gene: ENSMUSG00000024851 AA Change: H321L
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: ENSMUST00000131265
|
SMART Domains |
Protein: ENSMUSP00000120563 Gene: ENSMUSG00000024851
Domain | Start | End | E-Value | Type |
Pfam:IP_trans
|
1 |
252 |
5e-147 |
PFAM |
|
Meta Mutation Damage Score |
0.1520 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
100% (40/40) |
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930544G11Rik |
T |
C |
6: 65,930,074 (GRCm39) |
V103A |
possibly damaging |
Het |
Abcb11 |
T |
C |
2: 69,104,499 (GRCm39) |
N729S |
probably benign |
Het |
Ap2a2 |
T |
A |
7: 141,210,394 (GRCm39) |
N883K |
probably damaging |
Het |
Atr |
T |
C |
9: 95,749,579 (GRCm39) |
I464T |
probably benign |
Het |
Atrn |
T |
A |
2: 130,777,504 (GRCm39) |
H184Q |
probably damaging |
Het |
Bmp5 |
A |
G |
9: 75,746,874 (GRCm39) |
D244G |
probably benign |
Het |
Celsr2 |
C |
A |
3: 108,320,167 (GRCm39) |
E882* |
probably null |
Het |
Cfap58 |
T |
A |
19: 47,972,089 (GRCm39) |
V673E |
possibly damaging |
Het |
Chl1 |
A |
G |
6: 103,706,130 (GRCm39) |
N1155S |
probably benign |
Het |
Colgalt2 |
C |
A |
1: 152,378,823 (GRCm39) |
H416Q |
probably damaging |
Het |
Dab1 |
C |
T |
4: 104,561,404 (GRCm39) |
L230F |
probably benign |
Het |
Dixdc1 |
G |
T |
9: 50,622,079 (GRCm39) |
S84* |
probably null |
Het |
Dnah8 |
A |
G |
17: 30,875,603 (GRCm39) |
D475G |
probably damaging |
Het |
Egr2 |
T |
A |
10: 67,374,173 (GRCm39) |
N54K |
probably null |
Het |
Grm3 |
T |
C |
5: 9,562,365 (GRCm39) |
D495G |
probably benign |
Het |
Kif1b |
G |
A |
4: 149,266,797 (GRCm39) |
T1629I |
probably benign |
Het |
Klf2 |
A |
T |
8: 73,073,373 (GRCm39) |
N59I |
probably benign |
Het |
Krt86 |
T |
C |
15: 101,377,284 (GRCm39) |
V436A |
probably benign |
Het |
Lrrk2 |
T |
C |
15: 91,615,680 (GRCm39) |
V838A |
probably benign |
Het |
Ltbp1 |
T |
C |
17: 75,620,069 (GRCm39) |
S786P |
probably damaging |
Het |
Matk |
C |
G |
10: 81,097,859 (GRCm39) |
R315G |
probably damaging |
Het |
Meikin |
T |
C |
11: 54,290,666 (GRCm39) |
V249A |
probably benign |
Het |
Mrnip |
A |
G |
11: 50,090,654 (GRCm39) |
R273G |
probably benign |
Het |
Naf1 |
GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC |
GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC |
8: 67,313,200 (GRCm39) |
|
probably benign |
Het |
Nsd1 |
T |
A |
13: 55,446,189 (GRCm39) |
|
probably null |
Het |
Plekhm2 |
T |
C |
4: 141,367,130 (GRCm39) |
Y170C |
probably damaging |
Het |
Ralgapa1 |
T |
C |
12: 55,723,303 (GRCm39) |
D2197G |
possibly damaging |
Het |
Rmdn2 |
C |
T |
17: 79,978,053 (GRCm39) |
T338M |
probably damaging |
Het |
Rps10 |
A |
G |
17: 27,853,208 (GRCm39) |
S54P |
probably damaging |
Het |
S100a11 |
T |
C |
3: 93,433,422 (GRCm39) |
S89P |
probably benign |
Het |
Sh3yl1 |
T |
C |
12: 30,992,072 (GRCm39) |
Y176H |
probably damaging |
Het |
Sppl2c |
G |
T |
11: 104,077,532 (GRCm39) |
A111S |
possibly damaging |
Het |
Stab2 |
T |
C |
10: 86,803,598 (GRCm39) |
E317G |
possibly damaging |
Het |
Stim1 |
A |
G |
7: 102,076,324 (GRCm39) |
E425G |
probably damaging |
Het |
Stxbp1 |
C |
T |
2: 32,707,293 (GRCm39) |
|
probably null |
Het |
Traf6 |
G |
A |
2: 101,527,801 (GRCm39) |
R517Q |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,804,387 (GRCm39) |
V295A |
probably damaging |
Het |
Vps45 |
A |
T |
3: 95,941,091 (GRCm39) |
D383E |
possibly damaging |
Het |
Zfp984 |
A |
G |
4: 147,839,796 (GRCm39) |
C352R |
probably damaging |
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 |
R5069:Pitpnm1
|
UTSW |
19 |
4,161,140 (GRCm39) |
missense |
probably benign |
0.44 |
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 |
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'- GCTAAGTGCAACACTGGCAG -3'
(R):5'- AAATGTGGCTTCTGTGCTGAC -3'
Sequencing Primer
(F):5'- ACTGGCAGTGAGGGACC -3'
(R):5'- GGGCATCAAAGAATTCTTCCTCGG -3'
|
Posted On |
2021-01-18 |