Incidental Mutation 'R7738:Pla2g6'
| ID |
596390 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pla2g6
|
| Ensembl Gene |
ENSMUSG00000042632 |
| Gene Name |
phospholipase A2, group VI |
| Synonyms |
iPLA2, iPLA2beta |
| MMRRC Submission |
045794-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7738 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
79170428-79212590 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 79181633 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 537
(Y537*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134672
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047816]
[ENSMUST00000166977]
[ENSMUST00000172403]
[ENSMUST00000173163]
[ENSMUST00000174021]
|
| AlphaFold |
P97819 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000047816
AA Change: Y482*
|
| SMART Domains |
Protein: ENSMUSP00000044234
Gene: ENSMUSG00000042632
AA Change: Y482*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
96 |
109 |
N/A |
INTRINSIC |
|
ANK
|
151 |
181 |
2.97e-3 |
SMART |
|
ANK
|
185 |
215 |
4.6e0 |
SMART |
|
ANK
|
219 |
248 |
3.23e-4 |
SMART |
|
ANK
|
286 |
312 |
1.52e0 |
SMART |
|
ANK
|
316 |
345 |
6.46e-4 |
SMART |
|
ANK
|
349 |
378 |
2.02e-5 |
SMART |
|
Pfam:Patatin
|
427 |
611 |
6.7e-21 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000166977
AA Change: Y482*
|
| SMART Domains |
Protein: ENSMUSP00000132071
Gene: ENSMUSG00000042632
AA Change: Y482*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
96 |
109 |
N/A |
INTRINSIC |
|
ANK
|
151 |
181 |
2.97e-3 |
SMART |
|
ANK
|
185 |
215 |
4.6e0 |
SMART |
|
ANK
|
219 |
248 |
3.23e-4 |
SMART |
|
ANK
|
286 |
312 |
1.52e0 |
SMART |
|
ANK
|
316 |
345 |
6.46e-4 |
SMART |
|
ANK
|
349 |
378 |
2.02e-5 |
SMART |
|
Pfam:Patatin
|
427 |
611 |
6.7e-21 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000172403
AA Change: Y482*
|
| SMART Domains |
Protein: ENSMUSP00000131081
Gene: ENSMUSG00000042632
AA Change: Y482*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
96 |
109 |
N/A |
INTRINSIC |
|
ANK
|
151 |
181 |
2.97e-3 |
SMART |
|
ANK
|
185 |
215 |
4.6e0 |
SMART |
|
ANK
|
219 |
248 |
3.23e-4 |
SMART |
|
ANK
|
286 |
312 |
1.52e0 |
SMART |
|
ANK
|
316 |
345 |
6.46e-4 |
SMART |
|
ANK
|
349 |
378 |
2.02e-5 |
SMART |
|
Pfam:Patatin
|
427 |
611 |
6.7e-21 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000173163
AA Change: Y482*
|
| SMART Domains |
Protein: ENSMUSP00000134456
Gene: ENSMUSG00000042632
AA Change: Y482*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
96 |
109 |
N/A |
INTRINSIC |
|
ANK
|
151 |
181 |
2.97e-3 |
SMART |
|
ANK
|
185 |
215 |
4.6e0 |
SMART |
|
ANK
|
219 |
248 |
3.23e-4 |
SMART |
|
ANK
|
286 |
312 |
1.52e0 |
SMART |
|
ANK
|
316 |
345 |
6.46e-4 |
SMART |
|
ANK
|
349 |
378 |
2.02e-5 |
SMART |
|
Pfam:Patatin
|
427 |
611 |
6.7e-21 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000174021
AA Change: Y537*
|
| SMART Domains |
Protein: ENSMUSP00000134672
Gene: ENSMUSG00000042632
AA Change: Y537*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
96 |
109 |
N/A |
INTRINSIC |
|
ANK
|
151 |
181 |
2.97e-3 |
SMART |
|
ANK
|
185 |
215 |
4.6e0 |
SMART |
|
ANK
|
219 |
248 |
3.23e-4 |
SMART |
|
ANK
|
286 |
312 |
1.52e0 |
SMART |
|
ANK
|
316 |
345 |
6.46e-4 |
SMART |
|
ANK
|
349 |
378 |
2.02e-5 |
SMART |
|
Blast:ANK
|
382 |
411 |
2e-8 |
BLAST |
|
Pfam:Patatin
|
482 |
666 |
2.9e-18 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an A2 phospholipase, a class of enzyme that catalyzes the release of fatty acids from phospholipids. The encoded protein may play a role in phospholipid remodelling, arachidonic acid release, leukotriene and prostaglandin synthesis, fas-mediated apoptosis, and transmembrane ion flux in glucose-stimulated B-cells. Several transcript variants encoding multiple isoforms have been described, but the full-length nature of only three of them have been determined to date. [provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygous null mice display impaired male fertility and asthenozoospermia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkal1 |
T |
A |
1: 6,459,728 (GRCm39) |
D101E |
probably benign |
Het |
| Ank2 |
C |
T |
3: 126,741,271 (GRCm39) |
A1538T |
|
Het |
| Arhgap21 |
A |
G |
2: 20,854,290 (GRCm39) |
S1701P |
probably damaging |
Het |
| Arhgap21 |
A |
G |
2: 20,855,169 (GRCm39) |
Y1408H |
probably damaging |
Het |
| Armc3 |
A |
T |
2: 19,293,761 (GRCm39) |
L517F |
probably damaging |
Het |
| Cep57l1 |
T |
A |
10: 41,616,842 (GRCm39) |
E148D |
probably damaging |
Het |
| Clstn1 |
A |
C |
4: 149,719,811 (GRCm39) |
Q452P |
probably damaging |
Het |
| Csmd1 |
C |
A |
8: 16,151,004 (GRCm39) |
R1437L |
probably damaging |
Het |
| Dcbld1 |
C |
T |
10: 52,188,922 (GRCm39) |
T249I |
possibly damaging |
Het |
| Dsp |
A |
G |
13: 38,369,151 (GRCm39) |
E749G |
probably damaging |
Het |
| Enox1 |
A |
C |
14: 77,815,220 (GRCm39) |
N126T |
probably damaging |
Het |
| Fgfr1 |
T |
A |
8: 26,048,201 (GRCm39) |
L99Q |
probably damaging |
Het |
| Fscn3 |
G |
A |
6: 28,434,445 (GRCm39) |
R340Q |
probably benign |
Het |
| Glrb |
C |
T |
3: 80,767,491 (GRCm39) |
C243Y |
probably damaging |
Het |
| Gpld1 |
A |
T |
13: 25,146,305 (GRCm39) |
Y183F |
probably damaging |
Het |
| Has2 |
T |
C |
15: 56,531,108 (GRCm39) |
K536E |
possibly damaging |
Het |
| Igtp |
A |
G |
11: 58,097,906 (GRCm39) |
E359G |
probably benign |
Het |
| Kat14 |
A |
G |
2: 144,236,162 (GRCm39) |
D509G |
probably damaging |
Het |
| Kbtbd2 |
C |
A |
6: 56,756,722 (GRCm39) |
S338I |
possibly damaging |
Het |
| Mpdz |
A |
G |
4: 81,253,986 (GRCm39) |
S1049P |
probably benign |
Het |
| Ncoa3 |
C |
T |
2: 165,891,987 (GRCm39) |
A121V |
probably damaging |
Het |
| Nfatc4 |
A |
G |
14: 56,069,414 (GRCm39) |
T647A |
possibly damaging |
Het |
| Nip7 |
T |
C |
8: 107,783,997 (GRCm39) |
F79S |
probably damaging |
Het |
| Nrxn3 |
A |
C |
12: 88,817,074 (GRCm39) |
E251D |
possibly damaging |
Het |
| Olig2 |
T |
C |
16: 91,024,048 (GRCm39) |
I254T |
unknown |
Het |
| Or55b4 |
C |
A |
7: 102,133,818 (GRCm39) |
V170F |
probably damaging |
Het |
| Or5ac16 |
G |
A |
16: 59,022,318 (GRCm39) |
A157V |
probably benign |
Het |
| Ostf1 |
A |
T |
19: 18,562,065 (GRCm39) |
L177* |
probably null |
Het |
| Pabpc2 |
A |
T |
18: 39,907,319 (GRCm39) |
I195F |
possibly damaging |
Het |
| Pacs1 |
A |
T |
19: 5,202,378 (GRCm39) |
M404K |
probably benign |
Het |
| Pcdh1 |
A |
G |
18: 38,330,529 (GRCm39) |
S964P |
probably benign |
Het |
| Pcdhb3 |
T |
A |
18: 37,436,012 (GRCm39) |
N659K |
probably benign |
Het |
| Plekhn1 |
G |
A |
4: 156,316,691 (GRCm39) |
T330M |
probably damaging |
Het |
| Proc |
G |
A |
18: 32,260,532 (GRCm39) |
R198* |
probably null |
Het |
| Rfx8 |
G |
T |
1: 39,722,091 (GRCm39) |
T298K |
probably damaging |
Het |
| S1pr4 |
A |
C |
10: 81,334,341 (GRCm39) |
S378A |
probably benign |
Het |
| Saxo5 |
T |
C |
8: 3,533,525 (GRCm39) |
F277S |
probably damaging |
Het |
| Slfn2 |
T |
A |
11: 82,960,799 (GRCm39) |
F259L |
probably damaging |
Het |
| Snx14 |
T |
C |
9: 88,289,527 (GRCm39) |
T242A |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,774,153 (GRCm39) |
N68S |
probably damaging |
Het |
| Tmem44 |
A |
T |
16: 30,362,228 (GRCm39) |
S201T |
probably benign |
Het |
| Ttc3 |
A |
T |
16: 94,188,241 (GRCm39) |
I177L |
probably benign |
Het |
| Vmn1r177 |
T |
C |
7: 23,565,559 (GRCm39) |
T106A |
probably damaging |
Het |
| Vmn1r28 |
T |
C |
6: 58,243,039 (GRCm39) |
M294T |
probably benign |
Het |
| Zfp518b |
G |
A |
5: 38,829,530 (GRCm39) |
T825I |
probably benign |
Het |
| Zfp729b |
A |
T |
13: 67,740,194 (GRCm39) |
N690K |
probably benign |
Het |
|
| Other mutations in Pla2g6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00095:Pla2g6
|
APN |
15 |
79,173,441 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL00906:Pla2g6
|
APN |
15 |
79,171,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01432:Pla2g6
|
APN |
15 |
79,202,168 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
IGL01640:Pla2g6
|
APN |
15 |
79,188,513 (GRCm39) |
missense |
probably benign |
|
|
IGL01715:Pla2g6
|
APN |
15 |
79,202,057 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01943:Pla2g6
|
APN |
15 |
79,197,316 (GRCm39) |
missense |
probably null |
0.00 |
|
IGL02551:Pla2g6
|
APN |
15 |
79,183,294 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03120:Pla2g6
|
APN |
15 |
79,171,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03193:Pla2g6
|
APN |
15 |
79,201,985 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03194:Pla2g6
|
APN |
15 |
79,201,985 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03205:Pla2g6
|
APN |
15 |
79,201,985 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03289:Pla2g6
|
APN |
15 |
79,201,985 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0288:Pla2g6
|
UTSW |
15 |
79,171,106 (GRCm39) |
splice site |
probably benign |
|
|
R0631:Pla2g6
|
UTSW |
15 |
79,190,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1216:Pla2g6
|
UTSW |
15 |
79,190,635 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1617:Pla2g6
|
UTSW |
15 |
79,173,341 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1785:Pla2g6
|
UTSW |
15 |
79,190,545 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2025:Pla2g6
|
UTSW |
15 |
79,170,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2079:Pla2g6
|
UTSW |
15 |
79,197,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3952:Pla2g6
|
UTSW |
15 |
79,197,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4774:Pla2g6
|
UTSW |
15 |
79,171,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4826:Pla2g6
|
UTSW |
15 |
79,192,879 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5093:Pla2g6
|
UTSW |
15 |
79,171,328 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5327:Pla2g6
|
UTSW |
15 |
79,186,837 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5390:Pla2g6
|
UTSW |
15 |
79,173,893 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5419:Pla2g6
|
UTSW |
15 |
79,183,342 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5432:Pla2g6
|
UTSW |
15 |
79,186,817 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5633:Pla2g6
|
UTSW |
15 |
79,183,342 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5829:Pla2g6
|
UTSW |
15 |
79,171,893 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5930:Pla2g6
|
UTSW |
15 |
79,187,728 (GRCm39) |
intron |
probably benign |
|
|
R6228:Pla2g6
|
UTSW |
15 |
79,189,924 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6241:Pla2g6
|
UTSW |
15 |
79,188,592 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6339:Pla2g6
|
UTSW |
15 |
79,193,016 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6485:Pla2g6
|
UTSW |
15 |
79,191,572 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6754:Pla2g6
|
UTSW |
15 |
79,190,510 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7419:Pla2g6
|
UTSW |
15 |
79,189,898 (GRCm39) |
splice site |
probably null |
|
|
R7425:Pla2g6
|
UTSW |
15 |
79,192,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7710:Pla2g6
|
UTSW |
15 |
79,171,358 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7768:Pla2g6
|
UTSW |
15 |
79,181,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7796:Pla2g6
|
UTSW |
15 |
79,202,025 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8184:Pla2g6
|
UTSW |
15 |
79,171,322 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8359:Pla2g6
|
UTSW |
15 |
79,171,370 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9105:Pla2g6
|
UTSW |
15 |
79,183,397 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9280:Pla2g6
|
UTSW |
15 |
79,197,314 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9471:Pla2g6
|
UTSW |
15 |
79,202,039 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTACATGGGATGAGCTGC -3'
(R):5'- GGCAGGTTTCATAGAAGGGC -3'
Sequencing Primer
(F):5'- TTTGCTCCCCAGACTTAGGCAG -3'
(R):5'- TTTCATAGAAGGGCCTAGAAGC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation