Incidental Mutation 'R5874:Pnpla7'
| ID |
455358 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pnpla7
|
| Ensembl Gene |
ENSMUSG00000036833 |
| Gene Name |
patatin-like phospholipase domain containing 7 |
| Synonyms |
NRE, E430013P11Rik |
| MMRRC Submission |
044081-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.157)
|
| Stock # |
R5874 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
24866045-24944069 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 24901661 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 562
(M562I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044078
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045295]
[ENSMUST00000137913]
[ENSMUST00000146153]
|
| AlphaFold |
A2AJ88 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045295
AA Change: M562I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000044078
Gene: ENSMUSG00000036833
AA Change: M562I
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146153
|
| SMART Domains |
Protein: ENSMUSP00000117907
Gene: ENSMUSG00000036833
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:cNMP
|
28 |
62 |
6e-7 |
BLAST |
|
low complexity region
|
128 |
133 |
N/A |
INTRINSIC |
|
low complexity region
|
167 |
178 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.6%
|
| Validation Efficiency |
98% (86/88) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
G |
A |
7: 29,280,610 (GRCm39) |
|
noncoding transcript |
Het |
| Adam17 |
T |
C |
12: 21,379,087 (GRCm39) |
D654G |
possibly damaging |
Het |
| Ankhd1 |
A |
T |
18: 36,773,322 (GRCm39) |
H1373L |
possibly damaging |
Het |
| Ankrd17 |
T |
C |
5: 90,416,656 (GRCm39) |
|
probably benign |
Het |
| Calu |
A |
G |
6: 29,372,617 (GRCm39) |
D112G |
probably damaging |
Het |
| Camk2a |
G |
C |
18: 61,076,272 (GRCm39) |
|
probably benign |
Het |
| Cpn1 |
C |
A |
19: 43,944,951 (GRCm39) |
R452L |
probably benign |
Het |
| Csmd3 |
T |
A |
15: 47,507,666 (GRCm39) |
E2780V |
probably damaging |
Het |
| Ctnna2 |
T |
C |
6: 76,879,413 (GRCm39) |
T824A |
probably benign |
Het |
| Cuedc2 |
C |
T |
19: 46,319,824 (GRCm39) |
V164M |
possibly damaging |
Het |
| Cyp2d34 |
T |
A |
15: 82,503,243 (GRCm39) |
D74V |
probably benign |
Het |
| Ddi2 |
A |
G |
4: 141,422,780 (GRCm39) |
S311P |
probably damaging |
Het |
| Ddx10 |
A |
C |
9: 53,140,498 (GRCm39) |
I301R |
possibly damaging |
Het |
| Dmpk |
T |
C |
7: 18,826,007 (GRCm39) |
|
probably benign |
Het |
| Dnah7b |
C |
T |
1: 46,230,885 (GRCm39) |
T1381I |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,218,670 (GRCm39) |
N1703K |
probably damaging |
Het |
| Dtwd1 |
T |
A |
2: 126,000,359 (GRCm39) |
H98Q |
probably damaging |
Het |
| Ecel1 |
A |
C |
1: 87,075,731 (GRCm39) |
V769G |
probably benign |
Het |
| Eno4 |
T |
C |
19: 58,935,238 (GRCm39) |
V150A |
probably benign |
Het |
| Evc2 |
C |
T |
5: 37,574,883 (GRCm39) |
|
probably benign |
Het |
| Ext1 |
T |
A |
15: 52,965,148 (GRCm39) |
Q406L |
possibly damaging |
Het |
| Foxf2 |
A |
G |
13: 31,810,775 (GRCm39) |
H238R |
probably benign |
Het |
| Frem2 |
C |
G |
3: 53,444,910 (GRCm39) |
G2407A |
probably benign |
Het |
| Fzd10 |
A |
G |
5: 128,678,364 (GRCm39) |
E28G |
probably benign |
Het |
| Galnt15 |
T |
C |
14: 31,774,324 (GRCm39) |
F363L |
probably damaging |
Het |
| Gm1758 |
C |
T |
16: 14,325,037 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5866 |
C |
T |
5: 52,739,956 (GRCm39) |
|
noncoding transcript |
Het |
| Heatr9 |
T |
A |
11: 83,405,426 (GRCm39) |
M345L |
probably benign |
Het |
| Il23r |
A |
T |
6: 67,408,629 (GRCm39) |
F404Y |
possibly damaging |
Het |
| Lrrc8a |
T |
C |
2: 30,147,148 (GRCm39) |
I654T |
probably damaging |
Het |
| Napg |
A |
T |
18: 63,111,091 (GRCm39) |
K18* |
probably null |
Het |
| Ndst3 |
A |
T |
3: 123,355,556 (GRCm39) |
W573R |
probably damaging |
Het |
| Nin |
T |
C |
12: 70,077,692 (GRCm39) |
S1038G |
possibly damaging |
Het |
| Nudt12 |
T |
A |
17: 59,317,279 (GRCm39) |
R123* |
probably null |
Het |
| Oas1g |
T |
A |
5: 121,015,081 (GRCm39) |
N361Y |
probably benign |
Het |
| Or5p51 |
T |
A |
7: 107,444,377 (GRCm39) |
I188L |
probably benign |
Het |
| Or7a35 |
T |
A |
10: 78,853,191 (GRCm39) |
F12I |
possibly damaging |
Het |
| Or8h10 |
A |
T |
2: 86,808,786 (GRCm39) |
M118K |
probably damaging |
Het |
| Osbpl10 |
T |
C |
9: 115,055,828 (GRCm39) |
F667L |
probably damaging |
Het |
| Phldb2 |
T |
C |
16: 45,621,988 (GRCm39) |
D664G |
probably damaging |
Het |
| Piezo2 |
C |
T |
18: 63,160,972 (GRCm39) |
V2263M |
probably damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,858,688 (GRCm39) |
L615P |
probably damaging |
Het |
| Pou2af2 |
A |
T |
9: 51,201,672 (GRCm39) |
L128* |
probably null |
Het |
| Ppp1r13b |
C |
A |
12: 111,811,423 (GRCm39) |
R155L |
probably damaging |
Het |
| Pygb |
C |
T |
2: 150,628,798 (GRCm39) |
P4L |
probably benign |
Het |
| Rbm44 |
T |
C |
1: 91,084,562 (GRCm39) |
|
probably null |
Het |
| Rilpl2 |
T |
C |
5: 124,607,876 (GRCm39) |
T115A |
probably benign |
Het |
| Rin3 |
A |
G |
12: 102,356,102 (GRCm39) |
Y801C |
probably damaging |
Het |
| Rnf112 |
A |
G |
11: 61,340,273 (GRCm39) |
V619A |
probably damaging |
Het |
| Rnf182 |
A |
G |
13: 43,821,563 (GRCm39) |
E38G |
probably benign |
Het |
| Scgb2b24 |
T |
A |
7: 33,436,830 (GRCm39) |
Y94F |
probably damaging |
Het |
| Serac1 |
C |
A |
17: 6,094,188 (GRCm39) |
|
probably benign |
Het |
| Shld2 |
T |
C |
14: 33,967,215 (GRCm39) |
T114A |
probably benign |
Het |
| Slc6a19 |
A |
T |
13: 73,832,487 (GRCm39) |
V402D |
probably damaging |
Het |
| Slco1a8 |
A |
T |
6: 141,917,961 (GRCm39) |
H638Q |
probably benign |
Het |
| Slco2b1 |
T |
A |
7: 99,316,301 (GRCm39) |
M410L |
probably benign |
Het |
| Smarca2 |
T |
C |
19: 26,753,469 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
A |
G |
1: 93,193,067 (GRCm39) |
Y409C |
probably damaging |
Het |
| Sorcs2 |
A |
G |
5: 36,386,555 (GRCm39) |
V161A |
probably damaging |
Het |
| Spring1 |
T |
C |
5: 118,397,504 (GRCm39) |
V162A |
probably damaging |
Het |
| Sptb |
T |
C |
12: 76,645,501 (GRCm39) |
E2029G |
possibly damaging |
Het |
| Stx7 |
T |
A |
10: 24,058,659 (GRCm39) |
|
probably null |
Het |
| Taf4b |
T |
C |
18: 14,937,611 (GRCm39) |
V228A |
probably benign |
Het |
| Tbc1d1 |
A |
G |
5: 64,507,273 (GRCm39) |
*1163W |
probably null |
Het |
| Tor4a |
G |
A |
2: 25,084,847 (GRCm39) |
A352V |
probably damaging |
Het |
| Trpm4 |
A |
G |
7: 44,977,173 (GRCm39) |
F81S |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,780,436 (GRCm39) |
D1105V |
probably damaging |
Het |
| Vcf1 |
T |
A |
11: 113,568,220 (GRCm39) |
R78S |
probably damaging |
Het |
| Yju2b |
T |
A |
8: 84,985,177 (GRCm39) |
D364V |
possibly damaging |
Het |
| Zfp551 |
A |
G |
7: 12,150,101 (GRCm39) |
L436P |
probably damaging |
Het |
| Zfp975 |
G |
T |
7: 42,312,312 (GRCm39) |
D100E |
probably benign |
Het |
| Zswim3 |
A |
G |
2: 164,662,032 (GRCm39) |
I171V |
probably benign |
Het |
| Zwint |
C |
T |
10: 72,492,294 (GRCm39) |
|
probably benign |
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 |
|
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'- GGGCTGCTGTCACATACATTG -3'
(R):5'- ATGACTAAACCTGTGTATGGGTAC -3'
Sequencing Primer
(F):5'- GCTGTCACATACATTGTACTGAAGG -3'
(R):5'- CTAAAGAGCCAGGGCATGCC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation