Incidental Mutation 'R1973:Pnpla7'
| ID |
221180 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pnpla7
|
| Ensembl Gene |
ENSMUSG00000036833 |
| Gene Name |
patatin-like phospholipase domain containing 7 |
| Synonyms |
NRE, E430013P11Rik |
| MMRRC Submission |
039986-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.151)
|
| Stock # |
R1973 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
24866045-24944069 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24906629 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 664
(D664G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044078
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045295]
[ENSMUST00000137913]
|
| AlphaFold |
A2AJ88 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045295
AA Change: D664G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000044078
Gene: ENSMUSG00000036833
AA Change: D664G
| 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: ENSMUST00000139643
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.9%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
A |
C |
5: 8,862,746 (GRCm39) |
I143L |
probably benign |
Het |
| Acp7 |
T |
A |
7: 28,307,414 (GRCm39) |
D481V |
probably damaging |
Het |
| AI597479 |
T |
A |
1: 43,150,286 (GRCm39) |
I132K |
probably benign |
Het |
| Anxa13 |
T |
C |
15: 58,228,030 (GRCm39) |
|
noncoding transcript |
Het |
| Brca1 |
A |
T |
11: 101,417,229 (GRCm39) |
C302S |
probably benign |
Het |
| Brd8 |
T |
A |
18: 34,741,066 (GRCm39) |
D420V |
probably damaging |
Het |
| Cacna1g |
A |
T |
11: 94,350,603 (GRCm39) |
V414E |
possibly damaging |
Het |
| Ccdc142 |
T |
A |
6: 83,079,544 (GRCm39) |
C294S |
probably benign |
Het |
| Cdh20 |
G |
A |
1: 109,988,862 (GRCm39) |
V255I |
probably benign |
Het |
| Chat |
C |
T |
14: 32,146,148 (GRCm39) |
V342I |
probably benign |
Het |
| Chd6 |
A |
G |
2: 160,808,307 (GRCm39) |
S1636P |
probably damaging |
Het |
| Clec4a1 |
A |
G |
6: 122,901,793 (GRCm39) |
|
probably null |
Het |
| Col6a3 |
A |
T |
1: 90,731,897 (GRCm39) |
I1452N |
probably damaging |
Het |
| Dennd2c |
T |
C |
3: 103,039,014 (GRCm39) |
V54A |
probably benign |
Het |
| Dnah1 |
C |
T |
14: 30,987,348 (GRCm39) |
W3550* |
probably null |
Het |
| Efl1 |
T |
C |
7: 82,412,085 (GRCm39) |
S825P |
probably damaging |
Het |
| Entrep2 |
A |
T |
7: 64,425,516 (GRCm39) |
I192N |
possibly damaging |
Het |
| Faxc |
G |
A |
4: 21,993,405 (GRCm39) |
E350K |
probably benign |
Het |
| Frem2 |
T |
A |
3: 53,559,653 (GRCm39) |
Y1618F |
probably benign |
Het |
| Fubp3 |
A |
G |
2: 31,493,298 (GRCm39) |
T6A |
probably benign |
Het |
| Gm5814 |
A |
T |
17: 47,721,474 (GRCm39) |
M63L |
probably benign |
Het |
| Gpr149 |
T |
C |
3: 62,438,216 (GRCm39) |
K647R |
probably benign |
Het |
| Iqgap3 |
T |
A |
3: 87,991,235 (GRCm39) |
|
probably null |
Het |
| Kcnh3 |
T |
C |
15: 99,127,281 (GRCm39) |
V359A |
probably damaging |
Het |
| Kit |
G |
A |
5: 75,776,102 (GRCm39) |
A295T |
probably damaging |
Het |
| Krt77 |
G |
T |
15: 101,769,679 (GRCm39) |
A397E |
probably damaging |
Het |
| Mis18bp1 |
G |
C |
12: 65,195,850 (GRCm39) |
S638* |
probably null |
Het |
| Neurl4 |
C |
T |
11: 69,800,118 (GRCm39) |
P1091S |
probably benign |
Het |
| Nod2 |
A |
T |
8: 89,379,501 (GRCm39) |
M8L |
probably damaging |
Het |
| Nos1 |
A |
G |
5: 118,074,491 (GRCm39) |
T1046A |
possibly damaging |
Het |
| Nsfl1c |
G |
T |
2: 151,347,334 (GRCm39) |
S202I |
probably damaging |
Het |
| Nuak2 |
A |
T |
1: 132,258,340 (GRCm39) |
H257L |
probably damaging |
Het |
| Nwd1 |
T |
C |
8: 73,431,590 (GRCm39) |
V1195A |
possibly damaging |
Het |
| Or10k2 |
T |
C |
8: 84,268,421 (GRCm39) |
V216A |
probably benign |
Het |
| Or2ag12 |
T |
C |
7: 106,277,426 (GRCm39) |
D89G |
probably benign |
Het |
| Or52a20 |
T |
A |
7: 103,365,804 (GRCm39) |
M1K |
probably null |
Het |
| Or8b40 |
T |
A |
9: 38,027,863 (GRCm39) |
M257K |
possibly damaging |
Het |
| Or8g51 |
A |
G |
9: 38,609,164 (GRCm39) |
V170A |
probably damaging |
Het |
| Pclo |
G |
T |
5: 14,726,073 (GRCm39) |
|
probably null |
Het |
| Prl8a1 |
G |
A |
13: 27,760,917 (GRCm39) |
T105I |
probably benign |
Het |
| Ptger1 |
C |
A |
8: 84,396,083 (GRCm39) |
T380K |
probably benign |
Het |
| Ptk7 |
G |
A |
17: 46,897,733 (GRCm39) |
Q282* |
probably null |
Het |
| Ptpn18 |
G |
T |
1: 34,502,190 (GRCm39) |
D45Y |
probably damaging |
Het |
| Rab11fip3 |
T |
C |
17: 26,243,365 (GRCm39) |
D589G |
probably damaging |
Het |
| Rara |
A |
G |
11: 98,862,496 (GRCm39) |
N299S |
possibly damaging |
Het |
| Rpl13a |
T |
A |
7: 44,775,419 (GRCm39) |
K368* |
probably null |
Het |
| Rslcan18 |
T |
C |
13: 67,256,087 (GRCm39) |
|
probably benign |
Het |
| Rtel1 |
A |
G |
2: 180,993,419 (GRCm39) |
Y731C |
probably benign |
Het |
| Sec16a |
A |
T |
2: 26,316,501 (GRCm39) |
S1666R |
probably damaging |
Het |
| Sis |
A |
G |
3: 72,828,337 (GRCm39) |
F1217S |
probably damaging |
Het |
| Slc10a7 |
T |
A |
8: 79,423,962 (GRCm39) |
|
probably null |
Het |
| Slc22a7 |
A |
G |
17: 46,748,016 (GRCm39) |
V214A |
probably damaging |
Het |
| Slc26a8 |
T |
C |
17: 28,882,579 (GRCm39) |
I249V |
probably benign |
Het |
| Slc38a4 |
T |
C |
15: 96,897,478 (GRCm39) |
K446E |
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,192,795 (GRCm39) |
G361S |
probably damaging |
Het |
| Spef2 |
T |
G |
15: 9,663,152 (GRCm39) |
*876C |
probably null |
Het |
| Spink11 |
A |
G |
18: 44,329,205 (GRCm39) |
C14R |
unknown |
Het |
| Stk4 |
C |
T |
2: 163,942,448 (GRCm39) |
T360M |
probably benign |
Het |
| Tnfaip3 |
T |
C |
10: 18,880,252 (GRCm39) |
N605S |
probably damaging |
Het |
| Trpc1 |
A |
G |
9: 95,605,308 (GRCm39) |
M283T |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,544,706 (GRCm39) |
S32799P |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,550,443 (GRCm39) |
I31613T |
probably damaging |
Het |
| Ugt1a10 |
A |
T |
1: 87,983,769 (GRCm39) |
Y189F |
probably damaging |
Het |
| Usp32 |
G |
T |
11: 84,994,757 (GRCm39) |
L52I |
probably benign |
Het |
| Usp33 |
A |
G |
3: 152,065,923 (GRCm39) |
T68A |
possibly damaging |
Het |
| Vmn1r7 |
A |
G |
6: 57,002,011 (GRCm39) |
F83S |
probably benign |
Het |
| Vmn2r5 |
C |
T |
3: 64,411,642 (GRCm39) |
E309K |
probably damaging |
Het |
| Vps26c |
T |
C |
16: 94,302,405 (GRCm39) |
N267S |
probably damaging |
Het |
| Wdr43 |
A |
G |
17: 71,947,235 (GRCm39) |
N364D |
probably benign |
Het |
| Zdbf2 |
C |
A |
1: 63,348,860 (GRCm39) |
P2413Q |
unknown |
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 |
|
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'- ACTGGTTACATCCTGGGGTG -3'
(R):5'- ACCAGGGACCAGAATTGTGG -3'
Sequencing Primer
(F):5'- GTGGTCAGCTGTCATGGAGC -3'
(R):5'- ACCAGAATTGTGGCTTGCC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation