Incidental Mutation 'R9494:Pnpla7'
| ID |
717088 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pnpla7
|
| Ensembl Gene |
ENSMUSG00000036833 |
| Gene Name |
patatin-like phospholipase domain containing 7 |
| Synonyms |
NRE, E430013P11Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.157)
|
| Stock # |
R9494 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
24866045-24944069 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 24942390 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 1236
(L1236*)
|
| 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 null
Transcript: ENSMUST00000045295
AA Change: L1236*
|
| SMART Domains |
Protein: ENSMUSP00000044078
Gene: ENSMUSG00000036833
AA Change: L1236*
| 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: ENSMUST00000134744
|
| SMART Domains |
Protein: ENSMUSP00000120376
Gene: ENSMUSG00000006476
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
12 |
N/A |
INTRINSIC |
|
low complexity region
|
113 |
127 |
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 null
Transcript: ENSMUST00000155601
AA Change: L103*
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Als2 |
T |
C |
1: 59,206,664 (GRCm39) |
D1593G |
probably damaging |
Het |
| Atad2b |
C |
A |
12: 5,081,852 (GRCm39) |
P1254T |
probably benign |
Het |
| Brsk2 |
C |
T |
7: 141,555,955 (GRCm39) |
R716C |
possibly damaging |
Het |
| Bzw2 |
T |
A |
12: 36,184,947 (GRCm39) |
M1L |
probably benign |
Het |
| Cd300ld2 |
T |
A |
11: 114,901,249 (GRCm39) |
H277L |
possibly damaging |
Het |
| Col6a5 |
A |
T |
9: 105,822,732 (GRCm39) |
D208E |
unknown |
Het |
| Cul3 |
T |
A |
1: 80,255,169 (GRCm39) |
S544C |
probably damaging |
Het |
| Enpp1 |
C |
A |
10: 24,527,234 (GRCm39) |
R651L |
probably benign |
Het |
| Epha10 |
C |
T |
4: 124,808,649 (GRCm39) |
A766V |
|
Het |
| Epor |
A |
G |
9: 21,870,522 (GRCm39) |
Y453H |
probably damaging |
Het |
| Fam13a |
T |
C |
6: 58,930,508 (GRCm39) |
K468R |
probably benign |
Het |
| Ffar4 |
C |
T |
19: 38,086,083 (GRCm39) |
A170V |
probably benign |
Het |
| Fhip1a |
A |
T |
3: 85,583,565 (GRCm39) |
Y410* |
probably null |
Het |
| Gm10203 |
A |
G |
6: 149,031,740 (GRCm39) |
Y15C |
unknown |
Het |
| Kansl1 |
T |
C |
11: 104,247,566 (GRCm39) |
T595A |
probably benign |
Het |
| Lmtk2 |
A |
T |
5: 144,037,338 (GRCm39) |
|
probably benign |
Het |
| Mybl2 |
G |
A |
2: 162,917,843 (GRCm39) |
V69I |
possibly damaging |
Het |
| Myo1d |
T |
C |
11: 80,375,093 (GRCm39) |
K994E |
probably benign |
Het |
| Or5p75-ps1 |
C |
A |
7: 108,107,800 (GRCm39) |
T179K |
unknown |
Het |
| Pcdhga10 |
A |
T |
18: 37,882,421 (GRCm39) |
R727S |
probably benign |
Het |
| Pgp |
T |
A |
17: 24,689,809 (GRCm39) |
L109Q |
probably damaging |
Het |
| Piwil2 |
C |
T |
14: 70,660,421 (GRCm39) |
G68D |
probably benign |
Het |
| Pms2 |
T |
A |
5: 143,853,214 (GRCm39) |
I193N |
probably damaging |
Het |
| Pole2 |
A |
G |
12: 69,249,731 (GRCm39) |
V489A |
possibly damaging |
Het |
| Rapgef2 |
G |
A |
3: 79,019,495 (GRCm39) |
L59F |
probably damaging |
Het |
| Rnf32 |
T |
C |
5: 29,429,145 (GRCm39) |
S241P |
probably damaging |
Het |
| Samd9l |
T |
A |
6: 3,375,830 (GRCm39) |
K477I |
possibly damaging |
Het |
| Stn1 |
C |
T |
19: 47,513,125 (GRCm39) |
|
probably null |
Het |
| Svep1 |
A |
G |
4: 58,070,577 (GRCm39) |
V2403A |
possibly damaging |
Het |
| Synrg |
T |
C |
11: 83,881,747 (GRCm39) |
M361T |
probably benign |
Het |
| Tbc1d2b |
A |
T |
9: 90,152,563 (GRCm39) |
Y68N |
probably damaging |
Het |
| Tbc1d4 |
A |
T |
14: 101,845,895 (GRCm39) |
M1K |
probably null |
Het |
| Thsd1 |
C |
T |
8: 22,733,268 (GRCm39) |
P105L |
probably benign |
Het |
| Tnxb |
T |
C |
17: 34,904,796 (GRCm39) |
L1187P |
probably damaging |
Het |
| Trio |
T |
C |
15: 27,846,843 (GRCm39) |
T1057A |
probably benign |
Het |
| Tubg1 |
T |
C |
11: 101,011,724 (GRCm39) |
I77T |
probably damaging |
Het |
| Txndc11 |
A |
G |
16: 10,952,156 (GRCm39) |
L73P |
probably damaging |
Het |
| Uck1 |
G |
A |
2: 32,148,179 (GRCm39) |
R182* |
probably null |
Het |
| Vangl1 |
T |
C |
3: 102,070,665 (GRCm39) |
S424G |
probably damaging |
Het |
| Vmn2r69 |
A |
G |
7: 85,056,084 (GRCm39) |
W685R |
probably benign |
Het |
| Vmn2r69 |
G |
A |
7: 85,060,768 (GRCm39) |
S272L |
probably damaging |
Het |
| Zbtb18 |
A |
T |
1: 177,275,648 (GRCm39) |
D327V |
probably benign |
Het |
| Zfp607b |
T |
C |
7: 27,403,092 (GRCm39) |
F516S |
probably damaging |
Het |
| Zzz3 |
A |
G |
3: 152,133,468 (GRCm39) |
I175M |
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 |
|
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 |
|
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'- GTATCACCAGCTGGCTAAGAG -3'
(R):5'- TCTCAGCAAGGTCCGTGAAG -3'
Sequencing Primer
(F):5'- TATCACCAGCTGGCTAAGAGAAAAG -3'
(R):5'- ATTGGGGCAGGTGAACAC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation