Incidental Mutation 'R5339:Pnpla7'
| ID |
423675 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pnpla7
|
| Ensembl Gene |
ENSMUSG00000036833 |
| Gene Name |
patatin-like phospholipase domain containing 7 |
| Synonyms |
NRE, E430013P11Rik |
| MMRRC Submission |
042918-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.151)
|
| Stock # |
R5339 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
24866045-24944069 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24892949 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 146
(S146P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117907
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045295]
[ENSMUST00000137913]
[ENSMUST00000146153]
|
| AlphaFold |
A2AJ88 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045295
AA Change: S457P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000044078
Gene: ENSMUSG00000036833
AA Change: S457P
| 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 |
noncoding transcript
Transcript: ENSMUST00000083864
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000145508
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146153
AA Change: S146P
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000117907
Gene: ENSMUSG00000036833
AA Change: S146P
| 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 |
0.1106 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
97% (57/59) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
C |
T |
10: 10,318,350 (GRCm39) |
G158E |
probably damaging |
Het |
| Adgrl2 |
C |
T |
3: 148,523,480 (GRCm39) |
R1256H |
probably benign |
Het |
| C3 |
C |
A |
17: 57,531,308 (GRCm39) |
V329F |
probably damaging |
Het |
| Ccdc50 |
C |
T |
16: 27,236,055 (GRCm39) |
H130Y |
probably damaging |
Het |
| Chrna7 |
A |
G |
7: 62,749,055 (GRCm39) |
S476P |
probably damaging |
Het |
| Crtc1 |
A |
T |
8: 70,850,383 (GRCm39) |
|
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,536,494 (GRCm39) |
T2137A |
possibly damaging |
Het |
| Ehd3 |
G |
A |
17: 74,135,202 (GRCm39) |
M359I |
possibly damaging |
Het |
| Fastkd3 |
G |
A |
13: 68,738,283 (GRCm39) |
G611R |
probably damaging |
Het |
| Foxa2 |
T |
A |
2: 147,886,354 (GRCm39) |
S154C |
probably damaging |
Het |
| Gfm2 |
T |
C |
13: 97,311,548 (GRCm39) |
I733T |
probably benign |
Het |
| Gm1968 |
T |
C |
16: 29,781,077 (GRCm39) |
|
noncoding transcript |
Het |
| Gmfg-ps |
T |
C |
6: 4,893,401 (GRCm39) |
|
noncoding transcript |
Het |
| Gzmd |
A |
T |
14: 56,368,140 (GRCm39) |
N106K |
possibly damaging |
Het |
| Huwe1 |
AGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGA |
X: 150,690,044 (GRCm39) |
|
probably benign |
Het |
| Ipo5 |
T |
C |
14: 121,181,122 (GRCm39) |
W883R |
probably damaging |
Het |
| Itpr1 |
T |
A |
6: 108,370,922 (GRCm39) |
V1063D |
probably damaging |
Het |
| Kansl3 |
A |
C |
1: 36,406,802 (GRCm39) |
|
probably benign |
Het |
| Klkb1 |
C |
A |
8: 45,723,748 (GRCm39) |
V556F |
possibly damaging |
Het |
| Krtap14 |
C |
A |
16: 88,622,747 (GRCm39) |
R77S |
probably benign |
Het |
| Leng8 |
T |
A |
7: 4,148,285 (GRCm39) |
Y686N |
possibly damaging |
Het |
| Mctp1 |
C |
A |
13: 76,973,825 (GRCm39) |
|
probably benign |
Het |
| Moxd2 |
T |
C |
6: 40,862,354 (GRCm39) |
Y155C |
probably damaging |
Het |
| Ofcc1 |
A |
G |
13: 40,241,321 (GRCm39) |
V729A |
probably benign |
Het |
| Or2w6 |
G |
A |
13: 21,843,404 (GRCm39) |
L30F |
probably benign |
Het |
| Or4k1 |
C |
A |
14: 50,377,759 (GRCm39) |
M112I |
probably damaging |
Het |
| Or7g27 |
G |
A |
9: 19,250,455 (GRCm39) |
G233E |
possibly damaging |
Het |
| Or8g30 |
A |
T |
9: 39,230,599 (GRCm39) |
F104I |
possibly damaging |
Het |
| Or8g37 |
T |
A |
9: 39,731,229 (GRCm39) |
M98K |
probably damaging |
Het |
| Pdia4 |
C |
T |
6: 47,773,619 (GRCm39) |
A577T |
possibly damaging |
Het |
| Pex5 |
A |
T |
6: 124,374,963 (GRCm39) |
S629T |
probably benign |
Het |
| Prune2 |
G |
A |
19: 17,098,236 (GRCm39) |
E1247K |
probably damaging |
Het |
| Reg3a |
A |
G |
6: 78,360,522 (GRCm39) |
|
probably null |
Het |
| Snx8 |
G |
A |
5: 140,343,905 (GRCm39) |
R78C |
probably damaging |
Het |
| Sstr5 |
T |
C |
17: 25,710,173 (GRCm39) |
E352G |
probably benign |
Het |
| Svep1 |
T |
C |
4: 58,121,892 (GRCm39) |
Y767C |
possibly damaging |
Het |
| Tbx15 |
G |
A |
3: 99,223,600 (GRCm39) |
V263M |
possibly damaging |
Het |
| Tdrd9 |
T |
C |
12: 111,993,556 (GRCm39) |
Y695H |
probably damaging |
Het |
| Tep1 |
A |
T |
14: 51,082,031 (GRCm39) |
L1174Q |
probably damaging |
Het |
| Tg |
T |
A |
15: 66,549,942 (GRCm39) |
Y235N |
probably damaging |
Het |
| Tha1 |
C |
A |
11: 117,761,908 (GRCm39) |
R111L |
possibly damaging |
Het |
| Trim17 |
C |
T |
11: 58,845,336 (GRCm39) |
|
probably null |
Het |
| Trim72 |
A |
G |
7: 127,609,505 (GRCm39) |
T436A |
probably benign |
Het |
| Uba7 |
C |
T |
9: 107,856,065 (GRCm39) |
A480V |
probably damaging |
Het |
| Ublcp1 |
A |
T |
11: 44,346,435 (GRCm39) |
S313T |
probably benign |
Het |
| Ubqlnl |
A |
G |
7: 103,798,972 (GRCm39) |
V175A |
probably benign |
Het |
| Vps26a |
A |
G |
10: 62,294,746 (GRCm39) |
L276P |
probably damaging |
Het |
| Zdhhc21 |
C |
T |
4: 82,756,550 (GRCm39) |
G110S |
probably damaging |
Het |
| Zfp236 |
T |
C |
18: 82,642,491 (GRCm39) |
E1133G |
probably damaging |
Het |
| Zfp800 |
A |
T |
6: 28,256,472 (GRCm39) |
S39T |
probably 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 |
|
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'- TGCCCTGTTTACTAGTGCTG -3'
(R):5'- TACTGGCAGGCCTGGATAAAG -3'
Sequencing Primer
(F):5'- CCTGTTTACTAGTGCTGTGGGTG -3'
(R):5'- AGCATTAGAAGGATGTGTTACCC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation