Incidental Mutation 'R7791:Pnpla7'
ID |
599859 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pnpla7
|
Ensembl Gene |
ENSMUSG00000036833 |
Gene Name |
patatin-like phospholipase domain containing 7 |
Synonyms |
NRE, E430013P11Rik |
MMRRC Submission |
045847-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.157)
|
Stock # |
R7791 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
24866045-24944069 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 24942078 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Aspartic acid
at position 1173
(A1173D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044078
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006646]
[ENSMUST00000045295]
[ENSMUST00000074422]
[ENSMUST00000100334]
[ENSMUST00000102931]
[ENSMUST00000114386]
[ENSMUST00000114388]
[ENSMUST00000116574]
[ENSMUST00000132172]
[ENSMUST00000137913]
[ENSMUST00000140737]
[ENSMUST00000144520]
[ENSMUST00000152122]
[ENSMUST00000155601]
|
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 |
probably damaging
Transcript: ENSMUST00000045295
AA Change: A1173D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000044078 Gene: ENSMUSG00000036833 AA Change: A1173D
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 |
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 |
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: 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: 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 damaging
Transcript: ENSMUST00000155601
AA Change: A40D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.7359 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (51/51) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921517D22Rik |
A |
T |
13: 59,838,508 (GRCm39) |
M108K |
probably benign |
Het |
AAdacl4fm3 |
A |
G |
4: 144,430,015 (GRCm39) |
S325P |
probably damaging |
Het |
Adamts9 |
A |
T |
6: 92,849,366 (GRCm39) |
V1031D |
probably benign |
Het |
Agap3 |
C |
T |
5: 24,681,411 (GRCm39) |
R122C |
probably damaging |
Het |
Arhgap27 |
A |
G |
11: 103,230,020 (GRCm39) |
|
probably null |
Het |
Atp1a2 |
T |
A |
1: 172,103,782 (GRCm39) |
I950F |
probably benign |
Het |
Bahcc1 |
T |
G |
11: 120,159,203 (GRCm39) |
H143Q |
probably damaging |
Het |
Bcl7b |
T |
A |
5: 135,199,968 (GRCm39) |
D40E |
probably damaging |
Het |
C9 |
C |
T |
15: 6,519,359 (GRCm39) |
R399C |
possibly damaging |
Het |
Capn13 |
T |
C |
17: 73,689,883 (GRCm39) |
I43V |
possibly damaging |
Het |
Ctcf |
A |
G |
8: 106,391,571 (GRCm39) |
T289A |
possibly damaging |
Het |
Cux2 |
T |
C |
5: 122,005,162 (GRCm39) |
N1008S |
probably benign |
Het |
Dst |
T |
A |
1: 34,193,673 (GRCm39) |
M294K |
probably damaging |
Het |
Eml4 |
G |
T |
17: 83,781,135 (GRCm39) |
D778Y |
probably benign |
Het |
Exoc3l4 |
A |
C |
12: 111,389,974 (GRCm39) |
D183A |
probably damaging |
Het |
Eya4 |
A |
T |
10: 22,989,825 (GRCm39) |
S511T |
probably damaging |
Het |
Fbrsl1 |
T |
C |
5: 110,595,885 (GRCm39) |
H50R |
probably benign |
Het |
Gemin5 |
G |
A |
11: 58,015,819 (GRCm39) |
P1396S |
probably benign |
Het |
Gnb4 |
A |
G |
3: 32,644,192 (GRCm39) |
F151L |
possibly damaging |
Het |
Gnptab |
A |
G |
10: 88,276,084 (GRCm39) |
|
probably null |
Het |
Gpbp1l1 |
T |
A |
4: 116,431,617 (GRCm39) |
W92R |
probably damaging |
Het |
Gucy1b1 |
A |
T |
3: 81,942,704 (GRCm39) |
Y479* |
probably null |
Het |
Htr3a |
T |
A |
9: 48,812,875 (GRCm39) |
Q188L |
possibly damaging |
Het |
Ighv5-9-1 |
A |
G |
12: 113,700,165 (GRCm39) |
F18S |
probably damaging |
Het |
Loxhd1 |
A |
G |
18: 77,471,425 (GRCm39) |
T1004A |
probably damaging |
Het |
Mansc4 |
G |
A |
6: 146,983,042 (GRCm39) |
L132F |
unknown |
Het |
Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
Mtor |
G |
T |
4: 148,547,397 (GRCm39) |
R460L |
probably benign |
Het |
Mtus1 |
A |
T |
8: 41,536,417 (GRCm39) |
F433Y |
possibly damaging |
Het |
Myoc |
T |
C |
1: 162,476,690 (GRCm39) |
Y465H |
probably damaging |
Het |
N4bp1 |
A |
G |
8: 87,579,831 (GRCm39) |
V657A |
probably damaging |
Het |
Ndufv1 |
A |
T |
19: 4,061,533 (GRCm39) |
|
probably null |
Het |
Nectin1 |
T |
C |
9: 43,703,336 (GRCm39) |
I198T |
probably benign |
Het |
Or10h1 |
T |
A |
17: 33,418,326 (GRCm39) |
C101* |
probably null |
Het |
Or8g20 |
T |
C |
9: 39,396,177 (GRCm39) |
D124G |
probably damaging |
Het |
Padi2 |
C |
T |
4: 140,644,907 (GRCm39) |
T47I |
probably benign |
Het |
Pdia4 |
A |
T |
6: 47,784,056 (GRCm39) |
I116N |
probably damaging |
Het |
Pkdrej |
T |
A |
15: 85,700,132 (GRCm39) |
I1935L |
possibly damaging |
Het |
Ralgapa1 |
A |
T |
12: 55,788,304 (GRCm39) |
L593Q |
probably damaging |
Het |
Scn5a |
A |
G |
9: 119,372,402 (GRCm39) |
S231P |
possibly damaging |
Het |
Slc13a2 |
A |
G |
11: 78,312,890 (GRCm39) |
|
probably null |
Het |
Spdl1 |
A |
G |
11: 34,704,304 (GRCm39) |
S510P |
possibly damaging |
Het |
Tbxa2r |
G |
T |
10: 81,170,540 (GRCm39) |
*342L |
probably null |
Het |
Tfrc |
A |
G |
16: 32,437,985 (GRCm39) |
K346R |
probably benign |
Het |
Tmem52b |
A |
G |
6: 129,489,966 (GRCm39) |
|
probably benign |
Het |
Tsc1 |
T |
C |
2: 28,571,960 (GRCm39) |
F844L |
probably damaging |
Het |
Ttc39a |
A |
G |
4: 109,283,544 (GRCm39) |
N158S |
probably benign |
Het |
Ulk4 |
C |
T |
9: 121,092,734 (GRCm39) |
E168K |
possibly damaging |
Het |
Vgf |
T |
C |
5: 137,060,885 (GRCm39) |
L349P |
unknown |
Het |
Vil1 |
T |
C |
1: 74,467,295 (GRCm39) |
Y681H |
probably damaging |
Het |
Zfp654 |
A |
G |
16: 64,603,634 (GRCm39) |
*572R |
probably null |
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 |
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 |
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'- CAGCAGATCTGGGTCACTTG -3'
(R):5'- TGGAAAGGTAATTGATCCCCAGG -3'
Sequencing Primer
(F):5'- CCTGGGACTAACTCTGGGACAAG -3'
(R):5'- GAAAGGTAATTGATCCCCAGGTCCTC -3'
|
Posted On |
2019-11-26 |