Incidental Mutation 'R9651:Pnpla7'
ID |
727075 |
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 # |
R9651 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
24866045-24944069 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 24892931 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 451
(S451P)
|
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: S451P
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000044078 Gene: ENSMUSG00000036833 AA Change: S451P
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 |
possibly damaging
Transcript: ENSMUST00000146153
AA Change: S140P
PolyPhen 2
Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000117907 Gene: ENSMUSG00000036833 AA Change: S140P
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
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: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933405L10Rik |
T |
C |
8: 106,436,604 (GRCm39) |
S267P |
|
Het |
Abca13 |
C |
T |
11: 9,243,741 (GRCm39) |
P1868L |
probably benign |
Het |
Abca13 |
A |
G |
11: 9,535,484 (GRCm39) |
S4703G |
probably benign |
Het |
Abca9 |
A |
T |
11: 110,006,319 (GRCm39) |
M1262K |
probably benign |
Het |
Acta1 |
A |
T |
8: 124,619,431 (GRCm39) |
Y220* |
probably null |
Het |
Actr6 |
A |
G |
10: 89,564,877 (GRCm39) |
V24A |
probably damaging |
Het |
Adam30 |
T |
C |
3: 98,069,936 (GRCm39) |
Y590H |
possibly damaging |
Het |
Akap8l |
T |
C |
17: 32,557,783 (GRCm39) |
N35D |
probably damaging |
Het |
Ankle2 |
A |
G |
5: 110,385,661 (GRCm39) |
I337V |
probably benign |
Het |
Arid2 |
T |
C |
15: 96,256,822 (GRCm39) |
V220A |
probably benign |
Het |
Atp8b2 |
T |
C |
3: 89,865,603 (GRCm39) |
D99G |
probably damaging |
Het |
Baz1b |
A |
T |
5: 135,252,022 (GRCm39) |
H940L |
probably benign |
Het |
Cacna1d |
C |
T |
14: 29,764,881 (GRCm39) |
V2017I |
probably benign |
Het |
Ccn1 |
G |
T |
3: 145,354,583 (GRCm39) |
N109K |
probably damaging |
Het |
Cd226 |
T |
A |
18: 89,265,395 (GRCm39) |
C224* |
probably null |
Het |
Cdrt4 |
T |
A |
11: 62,883,466 (GRCm39) |
I56N |
possibly damaging |
Het |
Ces3b |
G |
T |
8: 105,812,257 (GRCm39) |
A169S |
probably damaging |
Het |
Cramp1 |
C |
A |
17: 25,201,783 (GRCm39) |
K566N |
probably damaging |
Het |
Cryz |
A |
G |
3: 154,327,765 (GRCm39) |
Q289R |
probably benign |
Het |
Csn1s2b |
T |
A |
5: 87,968,820 (GRCm39) |
M94K |
probably benign |
Het |
Ctnnd1 |
T |
C |
2: 84,439,899 (GRCm39) |
K804E |
possibly damaging |
Het |
Cwh43 |
T |
C |
5: 73,572,340 (GRCm39) |
S193P |
probably benign |
Het |
Dcstamp |
A |
T |
15: 39,623,792 (GRCm39) |
D469V |
probably benign |
Het |
Dffa |
A |
G |
4: 149,190,674 (GRCm39) |
T68A |
probably damaging |
Het |
Dnah2 |
C |
T |
11: 69,341,824 (GRCm39) |
|
probably null |
Het |
Dst |
T |
A |
1: 34,219,458 (GRCm39) |
I1966N |
probably benign |
Het |
Efcab5 |
G |
A |
11: 77,022,934 (GRCm39) |
T593I |
probably damaging |
Het |
Epn3 |
C |
T |
11: 94,383,687 (GRCm39) |
|
probably null |
Het |
Fem1c |
A |
T |
18: 46,657,674 (GRCm39) |
D13E |
|
Het |
Foxo3 |
C |
T |
10: 42,073,021 (GRCm39) |
V499M |
probably damaging |
Het |
Fpr2 |
T |
A |
17: 18,113,484 (GRCm39) |
I160N |
probably benign |
Het |
Gabra1 |
A |
G |
11: 42,045,853 (GRCm39) |
Y86H |
probably damaging |
Het |
Gabrb3 |
T |
C |
7: 57,415,202 (GRCm39) |
Y91H |
probably damaging |
Het |
Gcn1 |
T |
C |
5: 115,747,665 (GRCm39) |
|
probably null |
Het |
Gp5 |
A |
C |
16: 30,128,393 (GRCm39) |
F94V |
probably damaging |
Het |
Gpr152 |
T |
G |
19: 4,192,614 (GRCm39) |
W52G |
probably damaging |
Het |
Hsd17b12 |
A |
G |
2: 93,988,081 (GRCm39) |
V45A |
probably benign |
Het |
Htr5a |
A |
G |
5: 28,047,838 (GRCm39) |
N131S |
possibly damaging |
Het |
Il16 |
T |
A |
7: 83,332,064 (GRCm39) |
N172I |
probably damaging |
Het |
Itga2 |
G |
A |
13: 115,020,991 (GRCm39) |
P120L |
probably benign |
Het |
Itpkb |
G |
T |
1: 180,160,056 (GRCm39) |
E61* |
probably null |
Het |
Lama1 |
T |
C |
17: 68,101,215 (GRCm39) |
S1903P |
|
Het |
Llgl2 |
A |
T |
11: 115,742,941 (GRCm39) |
|
probably null |
Het |
Mical1 |
A |
T |
10: 41,362,022 (GRCm39) |
|
probably null |
Het |
Muc2 |
C |
T |
7: 141,288,014 (GRCm39) |
P262S |
probably damaging |
Het |
Myo9a |
A |
G |
9: 59,778,764 (GRCm39) |
R1507G |
probably damaging |
Het |
Ndst1 |
G |
A |
18: 60,833,539 (GRCm39) |
H491Y |
probably damaging |
Het |
Nfasc |
T |
C |
1: 132,527,791 (GRCm39) |
T872A |
probably benign |
Het |
Nipal3 |
A |
T |
4: 135,174,634 (GRCm39) |
C372* |
probably null |
Het |
Nmrk1 |
A |
G |
19: 18,616,929 (GRCm39) |
H26R |
probably benign |
Het |
Nubp2 |
G |
A |
17: 25,103,382 (GRCm39) |
T165I |
probably damaging |
Het |
Or2m12 |
C |
T |
16: 19,105,489 (GRCm39) |
M1I |
probably null |
Het |
Or51d1 |
T |
A |
7: 102,347,832 (GRCm39) |
M129K |
probably damaging |
Het |
Or5au1 |
T |
C |
14: 52,273,205 (GRCm39) |
D121G |
probably damaging |
Het |
Or5b102 |
T |
G |
19: 13,041,256 (GRCm39) |
D160E |
probably benign |
Het |
P2ry12 |
T |
C |
3: 59,134,931 (GRCm39) |
|
probably benign |
Het |
Pax8 |
T |
A |
2: 24,331,173 (GRCm39) |
D174V |
probably damaging |
Het |
Pbxip1 |
A |
G |
3: 89,352,795 (GRCm39) |
D147G |
probably damaging |
Het |
Polm |
A |
G |
11: 5,781,732 (GRCm39) |
Y255H |
probably damaging |
Het |
Polr1has |
C |
T |
17: 37,276,353 (GRCm39) |
Q242* |
probably null |
Het |
Rdh14 |
T |
A |
12: 10,441,118 (GRCm39) |
C93* |
probably null |
Het |
Rnf213 |
C |
A |
11: 119,331,238 (GRCm39) |
S2150Y |
|
Het |
Rpap1 |
G |
A |
2: 119,598,484 (GRCm39) |
P1111L |
probably damaging |
Het |
Rpl3l |
T |
A |
17: 24,947,328 (GRCm39) |
L14Q |
probably damaging |
Het |
Sbp |
A |
G |
17: 24,164,419 (GRCm39) |
*200W |
probably null |
Het |
Scn10a |
A |
G |
9: 119,439,063 (GRCm39) |
M1601T |
probably benign |
Het |
Sertad4 |
C |
T |
1: 192,528,836 (GRCm39) |
D327N |
probably damaging |
Het |
Slc4a1 |
A |
T |
11: 102,242,256 (GRCm39) |
I821N |
probably damaging |
Het |
Spaca6 |
T |
A |
17: 18,057,829 (GRCm39) |
D164E |
probably benign |
Het |
Synj1 |
T |
C |
16: 90,735,412 (GRCm39) |
T1514A |
probably benign |
Het |
Synj1 |
C |
T |
16: 90,757,343 (GRCm39) |
V902I |
possibly damaging |
Het |
Tctn1 |
A |
G |
5: 122,384,576 (GRCm39) |
Y443H |
probably benign |
Het |
Thoc5 |
C |
T |
11: 4,849,883 (GRCm39) |
R25W |
possibly damaging |
Het |
Tmem200c |
A |
G |
17: 69,149,181 (GRCm39) |
H588R |
probably benign |
Het |
Trim45 |
C |
T |
3: 100,832,705 (GRCm39) |
Q313* |
probably null |
Het |
Ubqlnl |
T |
C |
7: 103,799,122 (GRCm39) |
D125G |
possibly damaging |
Het |
Ubr4 |
A |
T |
4: 139,206,859 (GRCm39) |
E4926V |
unknown |
Het |
Usp5 |
T |
C |
6: 124,799,501 (GRCm39) |
D349G |
possibly damaging |
Het |
Vmn1r25 |
T |
A |
6: 57,956,306 (GRCm39) |
|
probably benign |
Het |
Xirp2 |
A |
G |
2: 67,344,167 (GRCm39) |
Q2136R |
possibly damaging |
Het |
Zfp28 |
G |
A |
7: 6,395,623 (GRCm39) |
R134H |
|
Het |
Zfp712 |
A |
G |
13: 67,188,824 (GRCm39) |
S568P |
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 |
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 |
|
Z1177:Pnpla7
|
UTSW |
2 |
24,888,771 (GRCm39) |
missense |
probably null |
0.06 |
|
Predicted Primers |
PCR Primer
(F):5'- GAACTCTTTGGCCAGCAAGG -3'
(R):5'- CCCCAGGAAGCATTAGAAGG -3'
Sequencing Primer
(F):5'- TTGGCCAGCAAGGTATATCC -3'
(R):5'- AGCATTAGAAGGATGTGTTACCC -3'
|
Posted On |
2022-10-06 |