Incidental Mutation 'R0565:Pnpla7'
| ID |
46103 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pnpla7
|
| Ensembl Gene |
ENSMUSG00000036833 |
| Gene Name |
patatin-like phospholipase domain containing 7 |
| Synonyms |
NRE, E430013P11Rik |
| MMRRC Submission |
038756-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.157)
|
| Stock # |
R0565 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
24866045-24944069 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to G
at 24870129 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117428
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045295]
[ENSMUST00000137913]
[ENSMUST00000152777]
[ENSMUST00000153618]
|
| AlphaFold |
A2AJ88 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045295
|
| SMART Domains |
Protein: ENSMUSP00000044078
Gene: ENSMUSG00000036833
| 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: 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: ENSMUST00000139031
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139643
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142139
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152777
|
| SMART Domains |
Protein: ENSMUSP00000122394
Gene: ENSMUSG00000036833
| 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 |
|
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 96.8%
- 20x: 93.6%
|
| Validation Efficiency |
100% (73/73) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
A |
T |
16: 4,682,200 (GRCm39) |
H1010L |
probably benign |
Het |
| A2ml1 |
C |
A |
6: 128,545,706 (GRCm39) |
E474* |
probably null |
Het |
| Agtr1b |
T |
C |
3: 20,369,838 (GRCm39) |
H256R |
probably damaging |
Het |
| Amacr |
C |
T |
15: 10,982,032 (GRCm39) |
A46V |
possibly damaging |
Het |
| Atosb |
A |
T |
4: 43,034,647 (GRCm39) |
|
probably benign |
Het |
| Cabp5 |
A |
T |
7: 13,135,260 (GRCm39) |
M67L |
probably damaging |
Het |
| Caskin2 |
T |
C |
11: 115,691,842 (GRCm39) |
E981G |
probably damaging |
Het |
| Ccdc88a |
A |
G |
11: 29,411,042 (GRCm39) |
|
probably benign |
Het |
| Cd180 |
A |
G |
13: 102,839,382 (GRCm39) |
|
probably benign |
Het |
| Cd200l1 |
T |
A |
16: 45,264,536 (GRCm39) |
|
probably benign |
Het |
| Cemip |
G |
A |
7: 83,613,318 (GRCm39) |
H627Y |
probably damaging |
Het |
| Cep131 |
G |
T |
11: 119,964,588 (GRCm39) |
H289Q |
probably damaging |
Het |
| Cep350 |
G |
A |
1: 155,836,941 (GRCm39) |
|
probably benign |
Het |
| Cfap52 |
A |
T |
11: 67,840,425 (GRCm39) |
C169S |
probably benign |
Het |
| Cps1 |
A |
T |
1: 67,205,608 (GRCm39) |
T544S |
possibly damaging |
Het |
| Cul7 |
T |
C |
17: 46,962,929 (GRCm39) |
S187P |
probably damaging |
Het |
| Dhx40 |
C |
A |
11: 86,661,993 (GRCm39) |
R688L |
probably damaging |
Het |
| E330034G19Rik |
C |
A |
14: 24,356,985 (GRCm39) |
Q174K |
probably benign |
Het |
| Efna5 |
T |
C |
17: 63,188,031 (GRCm39) |
Y32C |
probably damaging |
Het |
| Ethe1 |
A |
G |
7: 24,307,314 (GRCm39) |
H176R |
probably benign |
Het |
| Exoc3 |
A |
G |
13: 74,330,394 (GRCm39) |
|
probably null |
Het |
| Fam135b |
T |
A |
15: 71,362,686 (GRCm39) |
N232Y |
possibly damaging |
Het |
| Fndc9 |
C |
T |
11: 46,128,984 (GRCm39) |
L168F |
probably damaging |
Het |
| Fpr-rs3 |
G |
A |
17: 20,844,283 (GRCm39) |
A286V |
probably damaging |
Het |
| Immt |
T |
A |
6: 71,823,467 (GRCm39) |
|
probably benign |
Het |
| Ipo7 |
T |
C |
7: 109,648,800 (GRCm39) |
|
probably benign |
Het |
| Ipo8 |
A |
T |
6: 148,688,221 (GRCm39) |
L747H |
probably damaging |
Het |
| Ireb2 |
A |
T |
9: 54,807,267 (GRCm39) |
N610Y |
probably damaging |
Het |
| Irs2 |
A |
G |
8: 11,054,592 (GRCm39) |
V1280A |
probably damaging |
Het |
| Kcnj3 |
T |
A |
2: 55,485,276 (GRCm39) |
M458K |
probably benign |
Het |
| Kl |
A |
G |
5: 150,904,409 (GRCm39) |
K387R |
possibly damaging |
Het |
| L3mbtl2 |
C |
A |
15: 81,568,487 (GRCm39) |
|
probably benign |
Het |
| Lamb1 |
A |
C |
12: 31,348,914 (GRCm39) |
I649L |
probably benign |
Het |
| Lipm |
A |
C |
19: 34,093,906 (GRCm39) |
L274F |
probably benign |
Het |
| Lrfn3 |
A |
G |
7: 30,060,216 (GRCm39) |
V3A |
probably benign |
Het |
| Lrrc8c |
A |
C |
5: 105,754,894 (GRCm39) |
D223A |
probably damaging |
Het |
| Ltn1 |
C |
A |
16: 87,212,898 (GRCm39) |
K554N |
probably benign |
Het |
| Mertk |
T |
C |
2: 128,613,403 (GRCm39) |
I473T |
probably benign |
Het |
| Mfsd12 |
C |
A |
10: 81,197,243 (GRCm39) |
N245K |
probably benign |
Het |
| Mmp16 |
A |
G |
4: 17,987,705 (GRCm39) |
D89G |
probably damaging |
Het |
| Myo5a |
T |
A |
9: 75,087,394 (GRCm39) |
N1083K |
probably benign |
Het |
| Ncapd3 |
C |
T |
9: 26,999,294 (GRCm39) |
A1290V |
probably benign |
Het |
| Nefm |
A |
G |
14: 68,362,070 (GRCm39) |
S65P |
probably damaging |
Het |
| Nt5c2 |
C |
T |
19: 46,886,064 (GRCm39) |
R220H |
probably damaging |
Het |
| Or4c102 |
T |
A |
2: 88,422,353 (GRCm39) |
D68E |
probably benign |
Het |
| Osbpl1a |
A |
T |
18: 12,892,501 (GRCm39) |
S438R |
probably damaging |
Het |
| Pcdhb5 |
T |
C |
18: 37,453,820 (GRCm39) |
S67P |
possibly damaging |
Het |
| Per3 |
A |
T |
4: 151,118,409 (GRCm39) |
I228N |
probably damaging |
Het |
| Ppp1r15b |
G |
T |
1: 133,064,391 (GRCm39) |
|
probably benign |
Het |
| Psmd2 |
G |
T |
16: 20,479,176 (GRCm39) |
L678F |
probably null |
Het |
| Ptch2 |
A |
G |
4: 116,963,340 (GRCm39) |
|
probably benign |
Het |
| Ranbp2 |
T |
A |
10: 58,312,158 (GRCm39) |
D959E |
probably benign |
Het |
| Rph3al |
C |
T |
11: 75,724,227 (GRCm39) |
|
probably null |
Het |
| Sec31b |
T |
A |
19: 44,512,992 (GRCm39) |
E499V |
probably damaging |
Het |
| Sel1l |
T |
C |
12: 91,778,663 (GRCm39) |
I667M |
probably benign |
Het |
| Sel1l |
C |
A |
12: 91,780,719 (GRCm39) |
V641L |
possibly damaging |
Het |
| Slc7a1 |
T |
A |
5: 148,288,879 (GRCm39) |
I123F |
probably damaging |
Het |
| Smarca2 |
G |
A |
19: 26,659,275 (GRCm39) |
R855Q |
possibly damaging |
Het |
| Sphk1 |
G |
T |
11: 116,427,184 (GRCm39) |
|
probably benign |
Het |
| Spink12 |
C |
A |
18: 44,237,755 (GRCm39) |
S11* |
probably null |
Het |
| Sstr2 |
A |
T |
11: 113,516,445 (GRCm39) |
I342F |
probably benign |
Het |
| Stxbp1 |
T |
C |
2: 32,709,860 (GRCm39) |
T78A |
probably benign |
Het |
| Trim11 |
T |
A |
11: 58,881,410 (GRCm39) |
S434R |
probably damaging |
Het |
| Ubr2 |
T |
C |
17: 47,266,812 (GRCm39) |
E1113G |
probably damaging |
Het |
| Upb1 |
T |
A |
10: 75,264,188 (GRCm39) |
|
probably benign |
Het |
| Vit |
T |
A |
17: 78,932,266 (GRCm39) |
C458S |
probably damaging |
Het |
| Vmn1r58 |
T |
C |
7: 5,414,165 (GRCm39) |
I22V |
probably benign |
Het |
| Vps25 |
T |
C |
11: 101,149,731 (GRCm39) |
|
probably benign |
Het |
| Wbp2 |
G |
T |
11: 115,973,211 (GRCm39) |
D65E |
possibly damaging |
Het |
| Wdr72 |
A |
G |
9: 74,124,588 (GRCm39) |
D980G |
probably benign |
Het |
| Xkr8 |
A |
C |
4: 132,458,228 (GRCm39) |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- gccccAGTTCTCAGAAATCTTCAGG -3'
(R):5'- GCTGACGACAAACCATGTTCTACCC -3'
Sequencing Primer
(F):5'- GTTCTCAGAAATCTTCAGGGTATTG -3'
(R):5'- CTGGGAATGTCAACCTGAGC -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation