Incidental Mutation 'R4223:Pnpla7'
| ID |
319433 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pnpla7
|
| Ensembl Gene |
ENSMUSG00000036833 |
| Gene Name |
patatin-like phospholipase domain containing 7 |
| Synonyms |
NRE, E430013P11Rik |
| MMRRC Submission |
041043-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.157)
|
| Stock # |
R4223 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
24866045-24944069 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24872126 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 69
(F69L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122394
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045295]
[ENSMUST00000137913]
[ENSMUST00000152777]
[ENSMUST00000153618]
|
| AlphaFold |
A2AJ88 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045295
AA Change: F150L
PolyPhen 2
Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000044078
Gene: ENSMUSG00000036833
AA Change: F150L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
36 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
66 |
N/A |
INTRINSIC |
|
cNMP
|
170 |
295 |
2.06e-12 |
SMART |
|
low complexity region
|
439 |
444 |
N/A |
INTRINSIC |
|
cNMP
|
481 |
600 |
1.16e-6 |
SMART |
|
cNMP
|
603 |
716 |
1.55e-7 |
SMART |
|
Pfam:Patatin
|
950 |
1116 |
3.2e-24 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000121309
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137913
AA Change: F124L
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000141577
Gene: ENSMUSG00000036833
AA Change: F124L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
40 |
N/A |
INTRINSIC |
|
Pfam:cNMP_binding
|
162 |
200 |
2.7e-5 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139031
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139643
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142139
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000152777
AA Change: F69L
PolyPhen 2
Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000122394
Gene: ENSMUSG00000036833
AA Change: F69L
| Domain | Start | End | E-Value | Type |
|---|
|
cNMP
|
89 |
179 |
4.98e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153618
|
| SMART Domains |
Protein: ENSMUSP00000117428
Gene: ENSMUSG00000036833
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
34 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
57 |
64 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0790 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.6%
|
| Validation Efficiency |
98% (65/66) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Human patatin-like phospholipases, such as PNPLA7, have been implicated in regulation of adipocyte differentiation and have been induced by metabolic stimuli (Wilson et al., 2006 [PubMed 16799181]).[supplied by OMIM, Jun 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
A |
G |
10: 78,930,286 (GRCm39) |
Y43H |
probably damaging |
Het |
| Aamp |
A |
T |
1: 74,320,285 (GRCm39) |
L348Q |
probably damaging |
Het |
| Abcb1b |
T |
A |
5: 8,863,722 (GRCm39) |
L226M |
probably damaging |
Het |
| Acap1 |
A |
G |
11: 69,774,511 (GRCm39) |
S396P |
probably damaging |
Het |
| Aif1l |
A |
T |
2: 31,852,251 (GRCm39) |
S40C |
probably damaging |
Het |
| Atp1a3 |
T |
C |
7: 24,700,355 (GRCm39) |
D48G |
probably benign |
Het |
| Bhmt-ps1 |
T |
A |
4: 26,369,352 (GRCm39) |
|
noncoding transcript |
Het |
| Ccdc116 |
A |
G |
16: 16,964,809 (GRCm39) |
|
probably benign |
Het |
| Cmtm5 |
T |
A |
14: 55,175,376 (GRCm39) |
C51S |
probably damaging |
Het |
| Cyb5rl |
T |
C |
4: 106,938,185 (GRCm39) |
V214A |
probably damaging |
Het |
| Cyp4x1 |
A |
T |
4: 114,970,077 (GRCm39) |
I350N |
probably damaging |
Het |
| Efcab6 |
C |
A |
15: 83,751,309 (GRCm39) |
D1498Y |
probably damaging |
Het |
| Eif3c |
C |
G |
7: 126,165,471 (GRCm39) |
|
probably benign |
Het |
| Epha3 |
G |
A |
16: 63,403,902 (GRCm39) |
S733L |
probably damaging |
Het |
| Esyt1 |
T |
C |
10: 128,356,517 (GRCm39) |
Y376C |
probably damaging |
Het |
| Galnt1 |
T |
C |
18: 24,371,413 (GRCm39) |
F4L |
probably benign |
Het |
| Glis1 |
T |
C |
4: 107,425,042 (GRCm39) |
S218P |
probably benign |
Het |
| Gm15854 |
A |
T |
6: 129,949,426 (GRCm39) |
|
noncoding transcript |
Het |
| Gm29125 |
T |
C |
1: 80,361,236 (GRCm39) |
|
noncoding transcript |
Het |
| Inpp5a |
T |
C |
7: 139,138,821 (GRCm39) |
V263A |
possibly damaging |
Het |
| Itgb1 |
T |
G |
8: 129,440,624 (GRCm39) |
I255S |
probably damaging |
Het |
| Kcp |
A |
G |
6: 29,482,257 (GRCm39) |
L1547P |
possibly damaging |
Het |
| Kifc3 |
C |
A |
8: 95,836,610 (GRCm39) |
L72F |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,583,460 (GRCm39) |
C683R |
probably damaging |
Het |
| Lrrc55 |
G |
A |
2: 85,026,460 (GRCm39) |
A188V |
possibly damaging |
Het |
| Ly6i |
A |
T |
15: 74,854,884 (GRCm39) |
S9T |
probably benign |
Het |
| Mfsd14b |
C |
T |
13: 65,214,422 (GRCm39) |
|
probably benign |
Het |
| Nipsnap3a |
T |
A |
4: 52,997,251 (GRCm39) |
D172E |
probably benign |
Het |
| Or4g7 |
A |
T |
2: 111,309,489 (GRCm39) |
Y120F |
probably benign |
Het |
| Oxgr1 |
T |
C |
14: 120,260,025 (GRCm39) |
K61E |
probably damaging |
Het |
| Pak2 |
G |
T |
16: 31,871,028 (GRCm39) |
N51K |
probably benign |
Het |
| Pcdhgb7 |
T |
A |
18: 37,886,856 (GRCm39) |
D675E |
probably benign |
Het |
| Pcolce |
T |
A |
5: 137,603,389 (GRCm39) |
|
probably benign |
Het |
| Phc3 |
A |
T |
3: 30,990,968 (GRCm39) |
S383R |
probably damaging |
Het |
| Phf1 |
C |
T |
17: 27,156,474 (GRCm39) |
R539* |
probably null |
Het |
| Plch1 |
G |
A |
3: 63,609,321 (GRCm39) |
T48I |
probably damaging |
Het |
| Plekha2 |
A |
G |
8: 25,533,036 (GRCm39) |
S312P |
probably damaging |
Het |
| Ppcdc |
T |
A |
9: 57,321,998 (GRCm39) |
M181L |
possibly damaging |
Het |
| Ptbp1 |
T |
C |
10: 79,695,047 (GRCm39) |
I125T |
probably benign |
Het |
| Rfc3 |
C |
A |
5: 151,574,637 (GRCm39) |
|
probably benign |
Het |
| Rpa2 |
T |
G |
4: 132,504,055 (GRCm39) |
I69S |
probably damaging |
Het |
| Rtn4 |
G |
A |
11: 29,656,856 (GRCm39) |
V337I |
probably benign |
Het |
| Rttn |
T |
C |
18: 89,113,708 (GRCm39) |
L1709P |
probably damaging |
Het |
| Sh2b2 |
G |
A |
5: 136,247,907 (GRCm39) |
P548L |
possibly damaging |
Het |
| Slc12a2 |
T |
A |
18: 58,043,328 (GRCm39) |
S591T |
probably damaging |
Het |
| Slc25a45 |
A |
T |
19: 5,930,146 (GRCm39) |
I39F |
probably damaging |
Het |
| Slc38a9 |
G |
A |
13: 112,850,782 (GRCm39) |
|
probably null |
Het |
| Slc9a4 |
T |
C |
1: 40,658,286 (GRCm39) |
V603A |
probably damaging |
Het |
| Snx19 |
T |
G |
9: 30,339,744 (GRCm39) |
V294G |
possibly damaging |
Het |
| Sp140l2 |
T |
C |
1: 85,090,278 (GRCm39) |
D83G |
probably damaging |
Het |
| Sspo |
G |
T |
6: 48,428,091 (GRCm39) |
V313L |
possibly damaging |
Het |
| Stard9 |
A |
G |
2: 120,495,472 (GRCm39) |
T116A |
possibly damaging |
Het |
| Strn3 |
C |
T |
12: 51,674,638 (GRCm39) |
R382Q |
probably damaging |
Het |
| Trim43b |
T |
A |
9: 88,972,692 (GRCm39) |
Q154L |
probably benign |
Het |
| Trps1 |
A |
G |
15: 50,710,044 (GRCm39) |
V98A |
probably benign |
Het |
| Vmn1r220 |
T |
A |
13: 23,368,148 (GRCm39) |
M183L |
probably benign |
Het |
| Vmn2r60 |
A |
T |
7: 41,765,952 (GRCm39) |
T20S |
probably benign |
Het |
| Wdr81 |
T |
C |
11: 75,338,828 (GRCm39) |
T1444A |
probably benign |
Het |
| Xirp2 |
A |
T |
2: 67,346,837 (GRCm39) |
E3026V |
possibly damaging |
Het |
|
| Other mutations in Pnpla7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00421:Pnpla7
|
APN |
2 |
24,866,327 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00765:Pnpla7
|
APN |
2 |
24,870,236 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01576:Pnpla7
|
APN |
2 |
24,906,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01626:Pnpla7
|
APN |
2 |
24,940,905 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL01844:Pnpla7
|
APN |
2 |
24,940,985 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02280:Pnpla7
|
APN |
2 |
24,901,589 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02629:Pnpla7
|
APN |
2 |
24,940,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02642:Pnpla7
|
APN |
2 |
24,940,288 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL02931:Pnpla7
|
APN |
2 |
24,905,241 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL03162:Pnpla7
|
APN |
2 |
24,905,301 (GRCm39) |
unclassified |
probably benign |
|
|
PIT4495001:Pnpla7
|
UTSW |
2 |
24,932,151 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0047:Pnpla7
|
UTSW |
2 |
24,901,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0047:Pnpla7
|
UTSW |
2 |
24,901,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0064:Pnpla7
|
UTSW |
2 |
24,887,239 (GRCm39) |
nonsense |
probably null |
|
|
R0064:Pnpla7
|
UTSW |
2 |
24,887,239 (GRCm39) |
nonsense |
probably null |
|
|
R0309:Pnpla7
|
UTSW |
2 |
24,877,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0541:Pnpla7
|
UTSW |
2 |
24,885,305 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0556:Pnpla7
|
UTSW |
2 |
24,942,313 (GRCm39) |
splice site |
probably null |
|
|
R0565:Pnpla7
|
UTSW |
2 |
24,870,129 (GRCm39) |
splice site |
probably benign |
|
|
R0830:Pnpla7
|
UTSW |
2 |
24,887,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0865:Pnpla7
|
UTSW |
2 |
24,872,135 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0893:Pnpla7
|
UTSW |
2 |
24,887,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0969:Pnpla7
|
UTSW |
2 |
24,940,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1102:Pnpla7
|
UTSW |
2 |
24,886,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1551:Pnpla7
|
UTSW |
2 |
24,937,720 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1572:Pnpla7
|
UTSW |
2 |
24,905,263 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1623:Pnpla7
|
UTSW |
2 |
24,942,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1876:Pnpla7
|
UTSW |
2 |
24,930,985 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1898:Pnpla7
|
UTSW |
2 |
24,943,796 (GRCm39) |
unclassified |
probably benign |
|
|
R1909:Pnpla7
|
UTSW |
2 |
24,887,300 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1973:Pnpla7
|
UTSW |
2 |
24,906,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2230:Pnpla7
|
UTSW |
2 |
24,941,610 (GRCm39) |
unclassified |
probably benign |
|
|
R2381:Pnpla7
|
UTSW |
2 |
24,870,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2655:Pnpla7
|
UTSW |
2 |
24,942,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3125:Pnpla7
|
UTSW |
2 |
24,932,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4411:Pnpla7
|
UTSW |
2 |
24,941,716 (GRCm39) |
nonsense |
probably null |
|
|
R4573:Pnpla7
|
UTSW |
2 |
24,940,885 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4674:Pnpla7
|
UTSW |
2 |
24,942,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4841:Pnpla7
|
UTSW |
2 |
24,870,064 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4842:Pnpla7
|
UTSW |
2 |
24,870,064 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4893:Pnpla7
|
UTSW |
2 |
24,943,688 (GRCm39) |
nonsense |
probably null |
|
|
R4941:Pnpla7
|
UTSW |
2 |
24,887,276 (GRCm39) |
splice site |
probably null |
|
|
R5116:Pnpla7
|
UTSW |
2 |
24,911,982 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5126:Pnpla7
|
UTSW |
2 |
24,870,056 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5138:Pnpla7
|
UTSW |
2 |
24,931,115 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5169:Pnpla7
|
UTSW |
2 |
24,940,321 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5188:Pnpla7
|
UTSW |
2 |
24,887,312 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5288:Pnpla7
|
UTSW |
2 |
24,931,031 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5307:Pnpla7
|
UTSW |
2 |
24,911,964 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5339:Pnpla7
|
UTSW |
2 |
24,892,949 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5384:Pnpla7
|
UTSW |
2 |
24,931,031 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5385:Pnpla7
|
UTSW |
2 |
24,931,031 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5479:Pnpla7
|
UTSW |
2 |
24,909,453 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5640:Pnpla7
|
UTSW |
2 |
24,893,013 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5662:Pnpla7
|
UTSW |
2 |
24,942,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5751:Pnpla7
|
UTSW |
2 |
24,871,790 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5874:Pnpla7
|
UTSW |
2 |
24,901,661 (GRCm39) |
missense |
probably benign |
|
|
R6284:Pnpla7
|
UTSW |
2 |
24,906,630 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6351:Pnpla7
|
UTSW |
2 |
24,901,576 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6513:Pnpla7
|
UTSW |
2 |
24,906,550 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7193:Pnpla7
|
UTSW |
2 |
24,941,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7503:Pnpla7
|
UTSW |
2 |
24,873,544 (GRCm39) |
nonsense |
probably null |
|
|
R7526:Pnpla7
|
UTSW |
2 |
24,888,678 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7791:Pnpla7
|
UTSW |
2 |
24,942,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8262:Pnpla7
|
UTSW |
2 |
24,873,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8283:Pnpla7
|
UTSW |
2 |
24,940,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8993:Pnpla7
|
UTSW |
2 |
24,943,431 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9086:Pnpla7
|
UTSW |
2 |
24,929,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9229:Pnpla7
|
UTSW |
2 |
24,873,503 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9494:Pnpla7
|
UTSW |
2 |
24,942,390 (GRCm39) |
nonsense |
probably null |
|
|
R9651:Pnpla7
|
UTSW |
2 |
24,892,931 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1177:Pnpla7
|
UTSW |
2 |
24,888,771 (GRCm39) |
missense |
probably null |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAAGGCAGATGCTTCTTCAG -3'
(R):5'- AACATTTCTGCTACCATGAAGC -3'
Sequencing Primer
(F):5'- CAGATGCTTCTTCAGGCTTTG -3'
(R):5'- AGCATGGAAGCAGCAGTCCC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation