Incidental Mutation 'R8099:Pitpnm3'
| ID |
630412 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pitpnm3
|
| Ensembl Gene |
ENSMUSG00000040543 |
| Gene Name |
PITPNM family member 3 |
| Synonyms |
A330068P14Rik, Ackr6 |
| MMRRC Submission |
067531-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R8099 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
71938354-72026604 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 71961144 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 357
(H357L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074737
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075258]
[ENSMUST00000108508]
|
| AlphaFold |
Q3UHE1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075258
AA Change: H357L
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000074737
Gene: ENSMUSG00000040543
AA Change: H357L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
25 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
128 |
140 |
N/A |
INTRINSIC |
|
Blast:DDHD
|
141 |
361 |
1e-105 |
BLAST |
|
DDHD
|
390 |
594 |
1.49e-91 |
SMART |
|
LNS2
|
739 |
870 |
2.12e-55 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108508
AA Change: H341L
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000104148
Gene: ENSMUSG00000040543
AA Change: H341L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
25 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
112 |
124 |
N/A |
INTRINSIC |
|
Blast:DDHD
|
125 |
345 |
1e-106 |
BLAST |
|
DDHD
|
374 |
578 |
1.49e-91 |
SMART |
|
LNS2
|
723 |
854 |
2.12e-55 |
SMART |
|
| Meta Mutation Damage Score |
0.0772 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.1%
|
| Validation Efficiency |
97% (60/62) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of membrane-associated phosphatidylinositol transfer domain-containing proteins. The calcium-binding protein has phosphatidylinositol (PI) transfer activity and interacts with the protein tyrosine kinase PTK2B (also known as PYK2). The protein is homologous to a Drosophila protein that is implicated in the visual transduction pathway in flies. Mutations in this gene result in autosomal dominant cone dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930012K11Rik |
T |
C |
14: 70,394,969 (GRCm39) |
R62G |
probably benign |
Het |
| Abcb9 |
A |
G |
5: 124,215,308 (GRCm39) |
F478L |
probably benign |
Het |
| Abcc9 |
A |
T |
6: 142,621,257 (GRCm39) |
N494K |
probably damaging |
Het |
| Atp11a |
T |
G |
8: 12,911,973 (GRCm39) |
M124R |
|
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Ccdc110 |
T |
A |
8: 46,395,130 (GRCm39) |
H340Q |
probably damaging |
Het |
| Celsr1 |
A |
G |
15: 85,915,801 (GRCm39) |
L724P |
probably damaging |
Het |
| Cfap74 |
A |
G |
4: 155,539,489 (GRCm39) |
N938S |
unknown |
Het |
| Chil3 |
T |
G |
3: 106,055,984 (GRCm39) |
D363A |
probably damaging |
Het |
| Ciart |
G |
A |
3: 95,788,656 (GRCm39) |
P61L |
probably damaging |
Het |
| Cpne3 |
A |
G |
4: 19,525,169 (GRCm39) |
V442A |
possibly damaging |
Het |
| Ctsh |
T |
C |
9: 89,946,300 (GRCm39) |
V130A |
probably damaging |
Het |
| Cyp3a44 |
T |
C |
5: 145,725,212 (GRCm39) |
K330E |
probably benign |
Het |
| Dgcr2 |
A |
T |
16: 17,667,633 (GRCm39) |
D275E |
probably damaging |
Het |
| Dnah1 |
A |
T |
14: 31,024,321 (GRCm39) |
D919E |
probably benign |
Het |
| Ell3 |
TCTCCTC |
TCTC |
2: 121,269,937 (GRCm39) |
|
probably benign |
Het |
| Entrep3 |
T |
C |
3: 89,091,250 (GRCm39) |
F74L |
probably damaging |
Het |
| Epb41l3 |
T |
A |
17: 69,554,683 (GRCm39) |
F261Y |
possibly damaging |
Het |
| Fbxo3 |
A |
C |
2: 103,885,280 (GRCm39) |
H383P |
probably damaging |
Het |
| Foxp1 |
C |
T |
6: 98,922,510 (GRCm39) |
V441M |
unknown |
Het |
| Gm29106 |
C |
T |
1: 118,126,521 (GRCm39) |
S71F |
probably benign |
Het |
| Golga3 |
T |
A |
5: 110,336,573 (GRCm39) |
L364* |
probably null |
Het |
| H1f1 |
C |
T |
13: 23,947,832 (GRCm39) |
L45F |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,279,422 (GRCm39) |
L110H |
probably damaging |
Het |
| Igkv4-53 |
A |
T |
6: 69,625,898 (GRCm39) |
S90T |
possibly damaging |
Het |
| Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
| Kti12 |
G |
T |
4: 108,705,571 (GRCm39) |
G162W |
probably damaging |
Het |
| Lama3 |
T |
A |
18: 12,667,120 (GRCm39) |
I763N |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,369,922 (GRCm39) |
I1613K |
probably benign |
Het |
| Mkrn1 |
T |
C |
6: 39,387,031 (GRCm39) |
D102G |
probably benign |
Het |
| Muc2 |
T |
A |
7: 141,299,175 (GRCm39) |
|
probably null |
Het |
| Nipal4 |
T |
C |
11: 46,052,848 (GRCm39) |
E39G |
probably benign |
Het |
| Nr1h2 |
T |
C |
7: 44,199,746 (GRCm39) |
Y391C |
possibly damaging |
Het |
| Odam |
T |
C |
5: 88,040,299 (GRCm39) |
I255T |
possibly damaging |
Het |
| Or11m3 |
A |
G |
15: 98,395,694 (GRCm39) |
M114V |
probably benign |
Het |
| Or6c35 |
T |
A |
10: 129,168,996 (GRCm39) |
I82K |
probably damaging |
Het |
| Or9m1 |
T |
A |
2: 87,733,852 (GRCm39) |
H56L |
probably damaging |
Het |
| Per3 |
A |
T |
4: 151,097,014 (GRCm39) |
M837K |
possibly damaging |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Plcb1 |
T |
C |
2: 135,093,654 (GRCm39) |
Y156H |
possibly damaging |
Het |
| Ppm1d |
C |
T |
11: 85,230,492 (GRCm39) |
P370L |
possibly damaging |
Het |
| Prrc2b |
T |
C |
2: 32,098,686 (GRCm39) |
V666A |
probably benign |
Het |
| Ptpn3 |
A |
T |
4: 57,204,985 (GRCm39) |
C725* |
probably null |
Het |
| Rapgefl1 |
T |
C |
11: 98,738,209 (GRCm39) |
W437R |
probably damaging |
Het |
| Sema4g |
T |
C |
19: 44,980,967 (GRCm39) |
L5P |
probably damaging |
Het |
| Sipa1l1 |
C |
T |
12: 82,480,600 (GRCm39) |
P1529L |
probably benign |
Het |
| Slc12a2 |
T |
C |
18: 58,032,464 (GRCm39) |
L388P |
probably damaging |
Het |
| Sltm |
T |
A |
9: 70,493,360 (GRCm39) |
S786T |
probably damaging |
Het |
| Srsf1 |
T |
C |
11: 87,940,082 (GRCm39) |
I198T |
probably benign |
Het |
| Ssh2 |
C |
T |
11: 77,345,755 (GRCm39) |
R1247* |
probably null |
Het |
| Ssu2 |
T |
C |
6: 112,353,438 (GRCm39) |
T229A |
probably benign |
Het |
| Stra6 |
T |
A |
9: 58,059,777 (GRCm39) |
H579Q |
probably damaging |
Het |
| Tanc2 |
T |
A |
11: 105,754,833 (GRCm39) |
V559E |
probably benign |
Het |
| Trp53bp1 |
A |
G |
2: 121,030,230 (GRCm39) |
Y1762H |
probably damaging |
Het |
| Usp15 |
T |
C |
10: 122,982,826 (GRCm39) |
Y263C |
possibly damaging |
Het |
| Usp17ld |
A |
T |
7: 102,899,495 (GRCm39) |
V479E |
probably damaging |
Het |
| Vmn2r15 |
A |
T |
5: 109,441,185 (GRCm39) |
S224R |
possibly damaging |
Het |
| Vmn2r8 |
A |
T |
5: 108,949,700 (GRCm39) |
N382K |
probably benign |
Het |
| Vmn2r94 |
T |
C |
17: 18,477,659 (GRCm39) |
I251V |
probably benign |
Het |
| Wnt2b |
A |
T |
3: 104,854,408 (GRCm39) |
V350D |
possibly damaging |
Het |
|
| Other mutations in Pitpnm3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01818:Pitpnm3
|
APN |
11 |
72,003,077 (GRCm39) |
splice site |
probably benign |
|
|
IGL01871:Pitpnm3
|
APN |
11 |
71,946,964 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02058:Pitpnm3
|
APN |
11 |
72,010,965 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL02267:Pitpnm3
|
APN |
11 |
71,962,274 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02370:Pitpnm3
|
APN |
11 |
71,942,684 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02613:Pitpnm3
|
APN |
11 |
71,948,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02835:Pitpnm3
|
APN |
11 |
71,952,292 (GRCm39) |
splice site |
probably benign |
|
|
IGL02946:Pitpnm3
|
APN |
11 |
71,983,378 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02989:Pitpnm3
|
APN |
11 |
72,011,012 (GRCm39) |
splice site |
probably benign |
|
|
IGL03173:Pitpnm3
|
APN |
11 |
71,983,389 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03357:Pitpnm3
|
APN |
11 |
71,961,716 (GRCm39) |
nonsense |
probably null |
|
|
Frank
|
UTSW |
11 |
71,961,222 (GRCm39) |
missense |
probably benign |
|
|
Mickey
|
UTSW |
11 |
71,961,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Stuart
|
UTSW |
11 |
71,942,755 (GRCm39) |
missense |
probably null |
0.99 |
|
R0102:Pitpnm3
|
UTSW |
11 |
71,947,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0193:Pitpnm3
|
UTSW |
11 |
71,961,318 (GRCm39) |
splice site |
probably benign |
|
|
R0964:Pitpnm3
|
UTSW |
11 |
71,949,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1475:Pitpnm3
|
UTSW |
11 |
71,965,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1566:Pitpnm3
|
UTSW |
11 |
71,949,785 (GRCm39) |
splice site |
probably null |
|
|
R1951:Pitpnm3
|
UTSW |
11 |
71,965,450 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3915:Pitpnm3
|
UTSW |
11 |
72,003,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4192:Pitpnm3
|
UTSW |
11 |
71,942,785 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4278:Pitpnm3
|
UTSW |
11 |
71,965,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4928:Pitpnm3
|
UTSW |
11 |
71,953,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5543:Pitpnm3
|
UTSW |
11 |
71,947,023 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5626:Pitpnm3
|
UTSW |
11 |
72,003,158 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5635:Pitpnm3
|
UTSW |
11 |
71,957,986 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5958:Pitpnm3
|
UTSW |
11 |
72,003,193 (GRCm39) |
splice site |
probably null |
|
|
R6531:Pitpnm3
|
UTSW |
11 |
71,962,313 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6634:Pitpnm3
|
UTSW |
11 |
71,942,755 (GRCm39) |
missense |
probably null |
0.99 |
|
R6764:Pitpnm3
|
UTSW |
11 |
71,942,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6912:Pitpnm3
|
UTSW |
11 |
71,961,222 (GRCm39) |
missense |
probably benign |
|
|
R7132:Pitpnm3
|
UTSW |
11 |
71,942,102 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7307:Pitpnm3
|
UTSW |
11 |
71,961,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7561:Pitpnm3
|
UTSW |
11 |
71,942,008 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7771:Pitpnm3
|
UTSW |
11 |
71,952,314 (GRCm39) |
nonsense |
probably null |
|
|
R8753:Pitpnm3
|
UTSW |
11 |
71,942,704 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8817:Pitpnm3
|
UTSW |
11 |
71,941,894 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8987:Pitpnm3
|
UTSW |
11 |
72,003,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9054:Pitpnm3
|
UTSW |
11 |
71,947,017 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9450:Pitpnm3
|
UTSW |
11 |
71,952,412 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9508:Pitpnm3
|
UTSW |
11 |
72,003,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9606:Pitpnm3
|
UTSW |
11 |
71,955,069 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9740:Pitpnm3
|
UTSW |
11 |
71,947,102 (GRCm39) |
missense |
probably benign |
0.34 |
|
X0018:Pitpnm3
|
UTSW |
11 |
71,962,266 (GRCm39) |
missense |
probably benign |
0.42 |
|
X0062:Pitpnm3
|
UTSW |
11 |
71,957,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1186:Pitpnm3
|
UTSW |
11 |
72,010,969 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Pitpnm3
|
UTSW |
11 |
71,954,955 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Pitpnm3
|
UTSW |
11 |
72,010,969 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Pitpnm3
|
UTSW |
11 |
71,954,955 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Pitpnm3
|
UTSW |
11 |
72,010,969 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Pitpnm3
|
UTSW |
11 |
71,954,955 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Pitpnm3
|
UTSW |
11 |
72,010,969 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Pitpnm3
|
UTSW |
11 |
71,954,955 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Pitpnm3
|
UTSW |
11 |
72,010,969 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Pitpnm3
|
UTSW |
11 |
71,954,955 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Pitpnm3
|
UTSW |
11 |
72,010,969 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Pitpnm3
|
UTSW |
11 |
71,954,955 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Pitpnm3
|
UTSW |
11 |
72,010,969 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Pitpnm3
|
UTSW |
11 |
71,954,955 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAGACAAACTGAAAATTCCCTGG -3'
(R):5'- TGCTATGCGTTCCACTCCAG -3'
Sequencing Primer
(F):5'- CAAACTGAAAATTCCCTGGTGTGG -3'
(R):5'- TATGCGTTCCACTCCAGGACAC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation