Incidental Mutation 'IGL01626:Pnpla7'
ID |
92730 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pnpla7
|
Ensembl Gene |
ENSMUSG00000036833 |
Gene Name |
patatin-like phospholipase domain containing 7 |
Synonyms |
NRE, E430013P11Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.157)
|
Stock # |
IGL01626
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
24866045-24944069 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 24940905 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 1086
(S1086T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044078
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006646]
[ENSMUST00000045295]
[ENSMUST00000074422]
[ENSMUST00000100334]
[ENSMUST00000102931]
[ENSMUST00000114386]
[ENSMUST00000114388]
[ENSMUST00000137913]
[ENSMUST00000155601]
[ENSMUST00000144520]
[ENSMUST00000152122]
[ENSMUST00000140737]
[ENSMUST00000116574]
[ENSMUST00000132172]
|
AlphaFold |
A2AJ88 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000006646
|
SMART Domains |
Protein: ENSMUSP00000006646 Gene: ENSMUSG00000006476
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
28 |
N/A |
INTRINSIC |
low complexity region
|
281 |
292 |
N/A |
INTRINSIC |
low complexity region
|
361 |
375 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045295
AA Change: S1086T
PolyPhen 2
Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000044078 Gene: ENSMUSG00000036833 AA Change: S1086T
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 |
probably benign
Transcript: ENSMUST00000074422
|
SMART Domains |
Protein: ENSMUSP00000074022 Gene: ENSMUSG00000006476
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
28 |
N/A |
INTRINSIC |
low complexity region
|
258 |
269 |
N/A |
INTRINSIC |
low complexity region
|
338 |
352 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000100334
|
SMART Domains |
Protein: ENSMUSP00000097908 Gene: ENSMUSG00000006476
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
28 |
N/A |
INTRINSIC |
low complexity region
|
283 |
294 |
N/A |
INTRINSIC |
low complexity region
|
363 |
377 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102931
|
SMART Domains |
Protein: ENSMUSP00000099995 Gene: ENSMUSG00000006476
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
28 |
N/A |
INTRINSIC |
low complexity region
|
260 |
271 |
N/A |
INTRINSIC |
low complexity region
|
340 |
354 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114386
|
SMART Domains |
Protein: ENSMUSP00000110028 Gene: ENSMUSG00000006476
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
28 |
N/A |
INTRINSIC |
low complexity region
|
310 |
324 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114388
|
SMART Domains |
Protein: ENSMUSP00000110030 Gene: ENSMUSG00000006476
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
28 |
N/A |
INTRINSIC |
low complexity region
|
331 |
345 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135328
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141866
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138536
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141584
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132082
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154359
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128517
|
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 |
probably benign
Transcript: ENSMUST00000155601
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144520
|
SMART Domains |
Protein: ENSMUSP00000141583 Gene: ENSMUSG00000006476
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
28 |
N/A |
INTRINSIC |
low complexity region
|
283 |
294 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152122
|
SMART Domains |
Protein: ENSMUSP00000121580 Gene: ENSMUSG00000006476
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
28 |
N/A |
INTRINSIC |
Pfam:IQ
|
62 |
80 |
2.5e-4 |
PFAM |
low complexity region
|
114 |
125 |
N/A |
INTRINSIC |
low complexity region
|
194 |
208 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140737
|
SMART Domains |
Protein: ENSMUSP00000141410 Gene: ENSMUSG00000006476
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
28 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000116574
|
SMART Domains |
Protein: ENSMUSP00000112273 Gene: ENSMUSG00000006476
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
28 |
N/A |
INTRINSIC |
low complexity region
|
260 |
271 |
N/A |
INTRINSIC |
low complexity region
|
340 |
354 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132172
|
SMART Domains |
Protein: ENSMUSP00000116106 Gene: ENSMUSG00000006476
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
28 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175104
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155909
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2 |
A |
G |
3: 59,926,595 (GRCm39) |
D188G |
probably damaging |
Het |
Aoc1 |
A |
G |
6: 48,883,465 (GRCm39) |
Y447C |
probably damaging |
Het |
Brd1 |
A |
T |
15: 88,585,090 (GRCm39) |
L915M |
probably damaging |
Het |
Cacna2d3 |
T |
A |
14: 28,665,564 (GRCm39) |
E152D |
possibly damaging |
Het |
Dnase2b |
A |
G |
3: 146,290,371 (GRCm39) |
|
probably null |
Het |
Ecpas |
G |
A |
4: 58,832,814 (GRCm39) |
|
probably benign |
Het |
Fat4 |
T |
C |
3: 39,005,181 (GRCm39) |
V1860A |
probably damaging |
Het |
Fbxl5 |
C |
A |
5: 43,916,047 (GRCm39) |
G455V |
probably benign |
Het |
Fpr-rs4 |
G |
A |
17: 18,242,493 (GRCm39) |
V167M |
probably damaging |
Het |
Fut7 |
C |
A |
2: 25,315,343 (GRCm39) |
Y153* |
probably null |
Het |
Gnptab |
A |
G |
10: 88,273,357 (GRCm39) |
T1045A |
probably damaging |
Het |
Gucy1a1 |
T |
A |
3: 82,015,926 (GRCm39) |
D354V |
probably damaging |
Het |
Gucy2e |
A |
G |
11: 69,123,681 (GRCm39) |
V406A |
possibly damaging |
Het |
Herc2 |
T |
C |
7: 55,734,890 (GRCm39) |
F160S |
probably benign |
Het |
Ice2 |
T |
G |
9: 69,314,614 (GRCm39) |
V42G |
probably benign |
Het |
L3mbtl4 |
A |
G |
17: 68,937,197 (GRCm39) |
Y406C |
probably damaging |
Het |
Lepr |
C |
T |
4: 101,590,731 (GRCm39) |
T103I |
probably benign |
Het |
Ly75 |
T |
A |
2: 60,131,359 (GRCm39) |
M1589L |
probably benign |
Het |
Map4k3 |
A |
G |
17: 80,913,238 (GRCm39) |
V644A |
probably damaging |
Het |
Micall1 |
A |
G |
15: 79,014,712 (GRCm39) |
D696G |
possibly damaging |
Het |
Muc4 |
T |
C |
16: 32,555,220 (GRCm39) |
V8A |
possibly damaging |
Het |
Myo1h |
A |
G |
5: 114,453,027 (GRCm39) |
D9G |
probably damaging |
Het |
Nop14 |
T |
A |
5: 34,806,689 (GRCm39) |
K472* |
probably null |
Het |
Npat |
T |
A |
9: 53,467,871 (GRCm39) |
D275E |
possibly damaging |
Het |
Nt5c1b |
A |
G |
12: 10,424,798 (GRCm39) |
T115A |
probably benign |
Het |
Or2d3c |
A |
T |
7: 106,526,627 (GRCm39) |
I13N |
probably benign |
Het |
Or6n1 |
A |
G |
1: 173,917,122 (GRCm39) |
N172S |
probably damaging |
Het |
Pold1 |
C |
T |
7: 44,182,796 (GRCm39) |
|
probably null |
Het |
Ppfia1 |
A |
G |
7: 144,035,456 (GRCm39) |
F1165L |
probably benign |
Het |
Prlr |
T |
A |
15: 10,328,804 (GRCm39) |
D426E |
probably benign |
Het |
Ptgs2 |
G |
A |
1: 149,979,478 (GRCm39) |
R231H |
probably damaging |
Het |
Rorc |
A |
G |
3: 94,296,094 (GRCm39) |
D91G |
probably damaging |
Het |
Scaper |
C |
T |
9: 55,819,335 (GRCm39) |
V127M |
possibly damaging |
Het |
Sema3g |
A |
T |
14: 30,943,684 (GRCm39) |
Y188F |
probably damaging |
Het |
Slc45a3 |
G |
T |
1: 131,906,725 (GRCm39) |
A400S |
possibly damaging |
Het |
Slc9b2 |
C |
A |
3: 135,042,156 (GRCm39) |
H478Q |
probably benign |
Het |
Spg11 |
T |
A |
2: 121,891,452 (GRCm39) |
H1973L |
probably damaging |
Het |
Srgap3 |
A |
G |
6: 112,750,609 (GRCm39) |
Y359H |
probably damaging |
Het |
Stx16 |
T |
G |
2: 173,935,813 (GRCm39) |
I248S |
probably damaging |
Het |
Sytl3 |
A |
G |
17: 7,002,839 (GRCm39) |
R287G |
probably damaging |
Het |
Tiam1 |
T |
C |
16: 89,609,856 (GRCm39) |
T82A |
probably damaging |
Het |
Trpm1 |
T |
C |
7: 63,918,637 (GRCm39) |
L659P |
probably damaging |
Het |
Ttc13 |
G |
A |
8: 125,400,477 (GRCm39) |
|
probably benign |
Het |
Unc80 |
T |
C |
1: 66,590,213 (GRCm39) |
|
probably null |
Het |
Vldlr |
G |
T |
19: 27,221,173 (GRCm39) |
R613L |
probably damaging |
Het |
Wdr77 |
C |
T |
3: 105,867,002 (GRCm39) |
R35* |
probably null |
Het |
Zc3h14 |
T |
G |
12: 98,745,445 (GRCm39) |
I478R |
possibly damaging |
Het |
Zfp366 |
A |
G |
13: 99,364,920 (GRCm39) |
H27R |
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 |
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 |
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 |
|
Posted On |
2013-12-09 |