Incidental Mutation 'R5619:Pitpnm1'
| ID |
439750 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pitpnm1
|
| Ensembl Gene |
ENSMUSG00000024851 |
| Gene Name |
phosphatidylinositol transfer protein, membrane-associated 1 |
| Synonyms |
RdgB, DRES9 |
| MMRRC Submission |
043278-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5619 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
4150012-4163966 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4153270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 142
(D142G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120563
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025779]
[ENSMUST00000049658]
[ENSMUST00000100022]
[ENSMUST00000131265]
[ENSMUST00000174799]
[ENSMUST00000174514]
|
| AlphaFold |
O35954 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025779
|
| SMART Domains |
Protein: ENSMUSP00000025779
Gene: ENSMUSG00000024856
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
44 |
N/A |
INTRINSIC |
|
Pfam:CDK2AP
|
58 |
126 |
1.4e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049658
AA Change: D142G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000054309
Gene: ENSMUSG00000024851
AA Change: D142G
| 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 damaging
Transcript: ENSMUST00000100022
AA Change: D142G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097599
Gene: ENSMUSG00000024851
AA Change: D142G
| 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 damaging
Transcript: ENSMUST00000131265
AA Change: D142G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120563
Gene: ENSMUSG00000024851
AA Change: D142G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IP_trans
|
1 |
252 |
5e-147 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139427
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151957
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172914
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174799
|
| SMART Domains |
Protein: ENSMUSP00000133593
Gene: ENSMUSG00000024856
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
44 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174514
|
| SMART Domains |
Protein: ENSMUSP00000134093
Gene: ENSMUSG00000024856
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CDK2AP
|
30 |
107 |
8.1e-26 |
PFAM |
|
| Meta Mutation Damage Score |
0.9471 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
99% (80/81) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| Adgre1 |
T |
G |
17: 57,727,437 (GRCm39) |
L456V |
probably benign |
Het |
| Adgrv1 |
C |
T |
13: 81,620,619 (GRCm39) |
G3943R |
probably damaging |
Het |
| Akap9 |
A |
G |
5: 4,004,760 (GRCm39) |
|
probably benign |
Het |
| Atp1a2 |
T |
A |
1: 172,106,948 (GRCm39) |
I791F |
probably damaging |
Het |
| BC004004 |
C |
G |
17: 29,501,703 (GRCm39) |
P81A |
probably damaging |
Het |
| Brca2 |
C |
A |
5: 150,480,579 (GRCm39) |
T2755K |
probably damaging |
Het |
| Cacna1c |
T |
C |
6: 118,719,322 (GRCm39) |
D215G |
probably damaging |
Het |
| Ccdc142 |
C |
T |
6: 83,080,603 (GRCm39) |
S445F |
probably benign |
Het |
| Comt |
T |
C |
16: 18,230,469 (GRCm39) |
E80G |
probably damaging |
Het |
| Coq7 |
T |
C |
7: 118,126,709 (GRCm39) |
|
probably benign |
Het |
| Coro7 |
C |
A |
16: 4,494,799 (GRCm39) |
|
probably null |
Het |
| Cyp2c40 |
A |
G |
19: 39,792,228 (GRCm39) |
S239P |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,302,581 (GRCm39) |
S1613P |
probably damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,118,885 (GRCm39) |
I2193M |
probably benign |
Het |
| Eipr1 |
A |
G |
12: 28,917,078 (GRCm39) |
Y382C |
probably damaging |
Het |
| Fastkd2 |
T |
A |
1: 63,778,469 (GRCm39) |
H447Q |
probably benign |
Het |
| Galk2 |
A |
T |
2: 125,817,317 (GRCm39) |
R369* |
probably null |
Het |
| Gli2 |
G |
A |
1: 118,764,485 (GRCm39) |
A1222V |
probably benign |
Het |
| Golim4 |
T |
A |
3: 75,813,802 (GRCm39) |
K141* |
probably null |
Het |
| Gtpbp3 |
G |
T |
8: 71,943,692 (GRCm39) |
|
probably benign |
Het |
| Gzmd |
C |
T |
14: 56,367,224 (GRCm39) |
A223T |
probably benign |
Het |
| Igf2r |
T |
C |
17: 12,958,221 (GRCm39) |
R151G |
probably damaging |
Het |
| Itga8 |
T |
A |
2: 12,270,139 (GRCm39) |
R116W |
probably damaging |
Het |
| Klhdc1 |
T |
G |
12: 69,304,919 (GRCm39) |
|
probably null |
Het |
| Klhl25 |
T |
C |
7: 75,516,602 (GRCm39) |
Y198H |
probably benign |
Het |
| Klhl29 |
A |
T |
12: 5,190,587 (GRCm39) |
M136K |
probably benign |
Het |
| Lipf |
A |
T |
19: 33,944,292 (GRCm39) |
Y167F |
possibly damaging |
Het |
| Lpar1 |
T |
C |
4: 58,487,155 (GRCm39) |
K39E |
possibly damaging |
Het |
| Mbtd1 |
T |
A |
11: 93,820,705 (GRCm39) |
|
probably null |
Het |
| Myo1a |
T |
A |
10: 127,554,413 (GRCm39) |
N794K |
probably benign |
Het |
| Nmrk1 |
T |
C |
19: 18,622,452 (GRCm39) |
L177P |
possibly damaging |
Het |
| Noxa1 |
C |
T |
2: 24,975,988 (GRCm39) |
E401K |
probably damaging |
Het |
| Or10g9b |
T |
A |
9: 39,918,039 (GRCm39) |
M69L |
probably benign |
Het |
| Or4f53 |
A |
T |
2: 111,087,856 (GRCm39) |
Y132F |
probably damaging |
Het |
| Ostm1 |
T |
A |
10: 42,555,325 (GRCm39) |
C116S |
probably damaging |
Het |
| Pcdhga7 |
T |
C |
18: 37,848,800 (GRCm39) |
I269T |
probably benign |
Het |
| Pfkfb3 |
T |
C |
2: 11,489,470 (GRCm39) |
K276R |
probably benign |
Het |
| Pfkp |
A |
T |
13: 6,648,765 (GRCm39) |
|
probably benign |
Het |
| Pkp3 |
T |
C |
7: 140,668,419 (GRCm39) |
L556P |
probably damaging |
Het |
| Plb1 |
C |
A |
5: 32,490,841 (GRCm39) |
T1046N |
probably damaging |
Het |
| Plxnb2 |
T |
C |
15: 89,047,012 (GRCm39) |
S770G |
possibly damaging |
Het |
| Polk |
A |
T |
13: 96,620,064 (GRCm39) |
I733N |
probably damaging |
Het |
| Potegl |
T |
C |
2: 23,147,017 (GRCm39) |
|
probably null |
Het |
| Prkg2 |
C |
A |
5: 99,136,156 (GRCm39) |
C301F |
probably damaging |
Het |
| Rabgap1l |
T |
C |
1: 160,066,142 (GRCm39) |
T189A |
probably benign |
Het |
| Raph1 |
T |
C |
1: 60,529,414 (GRCm39) |
|
probably benign |
Het |
| Rbm22 |
T |
A |
18: 60,693,899 (GRCm39) |
M1K |
probably null |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rnf186 |
T |
A |
4: 138,694,715 (GRCm39) |
I85N |
probably benign |
Het |
| Ryr2 |
C |
A |
13: 11,723,088 (GRCm39) |
R2517L |
probably damaging |
Het |
| Sec63 |
T |
A |
10: 42,665,378 (GRCm39) |
Y103N |
probably damaging |
Het |
| Serpinb3a |
G |
A |
1: 106,974,838 (GRCm39) |
P232S |
probably damaging |
Het |
| Slco6d1 |
C |
A |
1: 98,423,947 (GRCm39) |
T533K |
probably damaging |
Het |
| Smarcad1 |
T |
A |
6: 65,088,865 (GRCm39) |
D1000E |
probably benign |
Het |
| Spata46 |
A |
T |
1: 170,136,490 (GRCm39) |
I14F |
probably damaging |
Het |
| Speer4b |
T |
C |
5: 27,703,815 (GRCm39) |
H106R |
possibly damaging |
Het |
| Spint4 |
T |
C |
2: 164,542,761 (GRCm39) |
L118P |
probably benign |
Het |
| Sptbn5 |
A |
G |
2: 119,880,613 (GRCm39) |
|
noncoding transcript |
Het |
| Tgfbr3 |
A |
T |
5: 107,288,380 (GRCm39) |
I427N |
probably benign |
Het |
| Thbs2 |
C |
A |
17: 14,901,506 (GRCm39) |
C491F |
probably damaging |
Het |
| Tmem232 |
T |
A |
17: 65,793,506 (GRCm39) |
E64D |
probably benign |
Het |
| Tnpo3 |
A |
T |
6: 29,565,197 (GRCm39) |
C585* |
probably null |
Het |
| Ttc13 |
A |
T |
8: 125,406,683 (GRCm39) |
|
probably benign |
Het |
| Tuba8 |
C |
T |
6: 121,202,854 (GRCm39) |
A389V |
probably damaging |
Het |
| Uqcc4 |
G |
A |
17: 25,403,963 (GRCm39) |
S101N |
probably damaging |
Het |
| Usp25 |
A |
G |
16: 76,830,833 (GRCm39) |
I30V |
probably benign |
Het |
| Vmn2r31 |
T |
A |
7: 7,387,529 (GRCm39) |
K681* |
probably null |
Het |
| Vmn2r88 |
A |
G |
14: 51,651,367 (GRCm39) |
E235G |
probably damaging |
Het |
| Vps29 |
T |
A |
5: 122,492,511 (GRCm39) |
|
probably benign |
Het |
| Wdr1 |
A |
C |
5: 38,686,879 (GRCm39) |
V568G |
possibly damaging |
Het |
| Zfp64 |
T |
G |
2: 168,741,734 (GRCm39) |
Q398P |
probably damaging |
Het |
| Zfp64 |
G |
T |
2: 168,741,735 (GRCm39) |
Q398K |
probably damaging |
Het |
| Zfp839 |
T |
C |
12: 110,830,470 (GRCm39) |
Y398H |
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 |
|
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'- GGCAGCAACCTAACGTCTTC -3'
(R):5'- AGCGGAATTCAACCTTGCAC -3'
Sequencing Primer
(F):5'- AACGTCTTCAACCTGAGTGG -3'
(R):5'- TTGCACAGCTTATAGGCACACATG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation