Incidental Mutation 'R1876:Pnpla7'
ID |
211198 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pnpla7
|
Ensembl Gene |
ENSMUSG00000036833 |
Gene Name |
patatin-like phospholipase domain containing 7 |
Synonyms |
NRE, E430013P11Rik |
MMRRC Submission |
039898-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.151)
|
Stock # |
R1876 (G1)
|
Quality Score |
145 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
24866045-24944069 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 24930985 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 867
(V867M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044078
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045295]
[ENSMUST00000137913]
|
AlphaFold |
A2AJ88 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045295
AA Change: V867M
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000044078 Gene: ENSMUSG00000036833 AA Change: V867M
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: ENSMUST00000132082
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137913
|
SMART Domains |
Protein: ENSMUSP00000141577 Gene: ENSMUSG00000036833
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: ENSMUST00000139643
|
Meta Mutation Damage Score |
0.1365 |
Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.7%
- 10x: 95.1%
- 20x: 92.2%
|
Validation Efficiency |
99% (82/83) |
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
C |
A |
5: 77,025,396 (GRCm39) |
C961F |
probably damaging |
Het |
Abca16 |
A |
C |
7: 120,032,608 (GRCm39) |
D209A |
probably damaging |
Het |
Adamts14 |
T |
C |
10: 61,036,151 (GRCm39) |
I1047V |
probably benign |
Het |
Ak1 |
A |
G |
2: 32,520,282 (GRCm39) |
K27E |
probably damaging |
Het |
Akap9 |
T |
A |
5: 4,011,809 (GRCm39) |
D837E |
probably benign |
Het |
Arfgef3 |
T |
C |
10: 18,473,104 (GRCm39) |
Y1653C |
probably damaging |
Het |
Atad2 |
T |
G |
15: 57,970,264 (GRCm39) |
I446L |
probably benign |
Het |
Atp8b3 |
T |
G |
10: 80,365,912 (GRCm39) |
T313P |
possibly damaging |
Het |
Btg4 |
T |
C |
9: 51,028,489 (GRCm39) |
L72S |
probably damaging |
Het |
Canx |
A |
G |
11: 50,195,186 (GRCm39) |
I294T |
probably damaging |
Het |
Casp1 |
G |
A |
9: 5,303,663 (GRCm39) |
E250K |
probably benign |
Het |
Chchd10 |
T |
A |
10: 75,772,166 (GRCm39) |
S46T |
probably benign |
Het |
Col12a1 |
G |
T |
9: 79,585,563 (GRCm39) |
Y1271* |
probably null |
Het |
Col3a1 |
G |
A |
1: 45,381,395 (GRCm39) |
|
probably null |
Het |
Ctc1 |
A |
T |
11: 68,922,390 (GRCm39) |
T872S |
probably benign |
Het |
Cx3cl1 |
T |
C |
8: 95,507,048 (GRCm39) |
F351S |
probably damaging |
Het |
Cyb5r4 |
T |
A |
9: 86,937,867 (GRCm39) |
H295Q |
probably damaging |
Het |
Cyp2j7 |
T |
C |
4: 96,105,656 (GRCm39) |
T285A |
probably benign |
Het |
Dip2a |
G |
A |
10: 76,153,925 (GRCm39) |
T135M |
probably damaging |
Het |
Eif1ad18 |
T |
G |
12: 88,050,810 (GRCm39) |
I115S |
probably damaging |
Het |
Fgf10 |
A |
G |
13: 118,925,695 (GRCm39) |
E158G |
probably damaging |
Het |
Ftcd |
G |
T |
10: 76,417,403 (GRCm39) |
A281S |
probably benign |
Het |
Gpat4 |
A |
T |
8: 23,669,486 (GRCm39) |
M333K |
possibly damaging |
Het |
Gpcpd1 |
A |
G |
2: 132,376,673 (GRCm39) |
L541P |
probably damaging |
Het |
Grk5 |
T |
C |
19: 61,071,663 (GRCm39) |
Y408H |
probably damaging |
Het |
Hcrtr2 |
A |
G |
9: 76,153,627 (GRCm39) |
|
probably null |
Het |
Hsd17b13 |
T |
A |
5: 104,116,633 (GRCm39) |
N127I |
probably damaging |
Het |
Hspa4 |
T |
G |
11: 53,174,983 (GRCm39) |
D158A |
probably benign |
Het |
Ice2 |
G |
A |
9: 69,322,857 (GRCm39) |
A451T |
possibly damaging |
Het |
Inpp5e |
A |
T |
2: 26,298,169 (GRCm39) |
I144K |
possibly damaging |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lrrc49 |
T |
C |
9: 60,495,060 (GRCm39) |
I652V |
possibly damaging |
Het |
Man1a |
A |
T |
10: 53,795,268 (GRCm39) |
W571R |
probably damaging |
Het |
Mecom |
A |
G |
3: 30,047,807 (GRCm39) |
S32P |
probably damaging |
Het |
Mrpl40 |
A |
G |
16: 18,691,224 (GRCm39) |
I162T |
probably benign |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Mtmr12 |
T |
C |
15: 12,257,716 (GRCm39) |
W265R |
probably damaging |
Het |
Mup21 |
C |
T |
4: 62,067,663 (GRCm39) |
V79I |
probably benign |
Het |
Myh11 |
G |
A |
16: 14,086,967 (GRCm39) |
|
probably benign |
Het |
Myom3 |
T |
A |
4: 135,506,711 (GRCm39) |
F495I |
probably benign |
Het |
Ncoa7 |
A |
T |
10: 30,574,122 (GRCm39) |
|
probably benign |
Het |
Nisch |
T |
C |
14: 30,895,594 (GRCm39) |
Y45C |
probably damaging |
Het |
Nkain2 |
T |
A |
10: 32,766,435 (GRCm39) |
|
probably benign |
Het |
Or1ak2 |
A |
T |
2: 36,827,775 (GRCm39) |
I215F |
possibly damaging |
Het |
Or4k1 |
A |
G |
14: 50,377,629 (GRCm39) |
S156P |
probably damaging |
Het |
Pdcl |
A |
C |
2: 37,245,708 (GRCm39) |
H98Q |
probably damaging |
Het |
Pink1 |
A |
G |
4: 138,043,013 (GRCm39) |
V427A |
probably damaging |
Het |
Plce1 |
T |
C |
19: 38,769,067 (GRCm39) |
S2242P |
probably damaging |
Het |
Plrg1 |
C |
A |
3: 82,976,375 (GRCm39) |
|
probably benign |
Het |
Plxnc1 |
A |
G |
10: 94,702,803 (GRCm39) |
F586S |
possibly damaging |
Het |
Ppfia3 |
T |
A |
7: 45,001,631 (GRCm39) |
D427V |
possibly damaging |
Het |
Ppp6r3 |
A |
T |
19: 3,521,971 (GRCm39) |
|
probably benign |
Het |
Pros1 |
A |
T |
16: 62,723,881 (GRCm39) |
S210C |
probably damaging |
Het |
Ptk2b |
A |
G |
14: 66,395,841 (GRCm39) |
S839P |
probably benign |
Het |
Ptpre |
T |
C |
7: 135,280,046 (GRCm39) |
V570A |
possibly damaging |
Het |
Rbm48 |
C |
T |
5: 3,645,259 (GRCm39) |
A142T |
probably damaging |
Het |
Safb2 |
T |
C |
17: 56,883,909 (GRCm39) |
|
probably null |
Het |
Scnn1a |
A |
G |
6: 125,315,801 (GRCm39) |
E384G |
probably benign |
Het |
Sec23ip |
A |
G |
7: 128,354,575 (GRCm39) |
Y277C |
probably benign |
Het |
Slc25a29 |
G |
A |
12: 108,793,637 (GRCm39) |
T42M |
probably damaging |
Het |
Slc6a4 |
A |
T |
11: 76,905,990 (GRCm39) |
T264S |
probably benign |
Het |
Srgap3 |
A |
G |
6: 112,752,527 (GRCm39) |
M319T |
probably damaging |
Het |
Strn4 |
T |
A |
7: 16,572,207 (GRCm39) |
I640N |
probably damaging |
Het |
Tacc2 |
A |
G |
7: 130,225,475 (GRCm39) |
D739G |
probably benign |
Het |
Tigd4 |
T |
A |
3: 84,501,242 (GRCm39) |
L53* |
probably null |
Het |
Tlr6 |
T |
A |
5: 65,112,763 (GRCm39) |
D48V |
probably damaging |
Het |
Tmem125 |
T |
C |
4: 118,399,101 (GRCm39) |
D110G |
probably damaging |
Het |
Tmem198 |
A |
G |
1: 75,461,567 (GRCm39) |
D341G |
probably damaging |
Het |
Tnfaip3 |
A |
G |
10: 18,880,682 (GRCm39) |
F462L |
possibly damaging |
Het |
Tnrc6a |
CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT |
CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT |
7: 122,761,669 (GRCm39) |
|
probably benign |
Het |
Ush2a |
T |
A |
1: 188,410,486 (GRCm39) |
I2378N |
possibly damaging |
Het |
Usp47 |
A |
G |
7: 111,654,127 (GRCm39) |
T108A |
probably damaging |
Het |
Vmn1r236 |
T |
A |
17: 21,506,900 (GRCm39) |
I6K |
probably benign |
Het |
Vmn2r65 |
A |
T |
7: 84,595,505 (GRCm39) |
V393D |
probably 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 |
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 |
R4223:Pnpla7
|
UTSW |
2 |
24,872,126 (GRCm39) |
missense |
possibly damaging |
0.69 |
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'- ATGTGGTCAGAGTATTAGTAACCCC -3'
(R):5'- ACCAGGTCTTACCAGCTTGG -3'
Sequencing Primer
(F):5'- CAAGATGGGCCGTCTTTATAGCC -3'
(R):5'- TCTTACCAGCTTGGGCAAG -3'
|
Posted On |
2014-06-30 |