Incidental Mutation 'R7446:Plcz1'
| ID |
577288 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcz1
|
| Ensembl Gene |
ENSMUSG00000030230 |
| Gene Name |
phospholipase C, zeta 1 |
| Synonyms |
1700041H07Rik |
| MMRRC Submission |
045522-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7446 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
139935399-139987183 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 139959312 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 282
(S282A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032356
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032356]
[ENSMUST00000129986]
[ENSMUST00000137148]
|
| AlphaFold |
Q8K4D7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032356
AA Change: S282A
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000032356
Gene: ENSMUSG00000030230
AA Change: S282A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_like
|
80 |
162 |
9.6e-26 |
PFAM |
|
PLCXc
|
163 |
307 |
5.17e-72 |
SMART |
|
low complexity region
|
374 |
385 |
N/A |
INTRINSIC |
|
PLCYc
|
386 |
502 |
1.52e-51 |
SMART |
|
C2
|
521 |
625 |
2.06e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129986
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137148
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (67/67) |
| 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 a member of the phosphoinositide-specific phospholipase C family. Members in this family, classified into six isotypes that are tissue- and organ-specific, hydrolyze phosphatidylinositol 4,5-bisphosphate just before the phosphate group to yield diacylglycerol and inositol 1,4,5-trisphosphate. This protein localizes to the acrosome in spermatozoa and elicits Ca(2+) oscillations and egg activation during fertilization that leads to early embryonic development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
PHENOTYPE: Homozygous knockout mice display normal spermatogenesis and sperm motility but are sub-fertile because of a failure to induce Ca2+ oscillations in oocytes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
G |
15: 81,950,441 (GRCm39) |
D1446G |
probably benign |
Het |
| Adgrg1 |
A |
G |
8: 95,738,412 (GRCm39) |
Y635C |
probably damaging |
Het |
| Akr1cl |
G |
A |
1: 65,055,837 (GRCm39) |
R222W |
probably damaging |
Het |
| C2 |
G |
A |
17: 35,094,986 (GRCm39) |
R250C |
probably damaging |
Het |
| Cdk15 |
A |
G |
1: 59,328,854 (GRCm39) |
Y254C |
probably damaging |
Het |
| Celsr1 |
T |
C |
15: 85,791,874 (GRCm39) |
T2576A |
possibly damaging |
Het |
| Cfap61 |
C |
T |
2: 145,995,758 (GRCm39) |
R1108C |
probably benign |
Het |
| Clca3a1 |
A |
G |
3: 144,733,188 (GRCm39) |
S107P |
possibly damaging |
Het |
| Cplane1 |
A |
G |
15: 8,261,564 (GRCm39) |
D2460G |
probably damaging |
Het |
| Cpsf1 |
A |
G |
15: 76,485,950 (GRCm39) |
S407P |
probably benign |
Het |
| Crisp4 |
T |
C |
1: 18,192,962 (GRCm39) |
T252A |
probably damaging |
Het |
| Ctbs |
A |
G |
3: 146,164,573 (GRCm39) |
Y242C |
probably damaging |
Het |
| Cul4a |
A |
G |
8: 13,186,874 (GRCm39) |
T537A |
probably benign |
Het |
| D930020B18Rik |
T |
C |
10: 121,503,650 (GRCm39) |
I275T |
possibly damaging |
Het |
| Dcaf7 |
T |
C |
11: 105,944,561 (GRCm39) |
V248A |
probably benign |
Het |
| Def8 |
T |
C |
8: 124,181,061 (GRCm39) |
C153R |
probably damaging |
Het |
| Dennd1a |
A |
T |
2: 37,706,991 (GRCm39) |
V505D |
possibly damaging |
Het |
| Dpysl5 |
A |
C |
5: 30,936,231 (GRCm39) |
D207A |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,041,720 (GRCm39) |
S3307R |
probably benign |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Erf |
A |
T |
7: 24,945,556 (GRCm39) |
C72S |
probably damaging |
Het |
| Fastkd3 |
A |
T |
13: 68,740,079 (GRCm39) |
H47L |
unknown |
Het |
| Gm5591 |
C |
T |
7: 38,218,933 (GRCm39) |
E647K |
probably benign |
Het |
| Gng12 |
TGTCCAGCAAG |
TG |
6: 66,992,736 (GRCm39) |
|
probably benign |
Het |
| Guk1 |
T |
C |
11: 59,076,850 (GRCm39) |
T78A |
probably benign |
Het |
| Hephl1 |
T |
C |
9: 15,009,347 (GRCm39) |
T82A |
probably damaging |
Het |
| Htra4 |
A |
G |
8: 25,527,181 (GRCm39) |
S205P |
probably benign |
Het |
| Jakmip2 |
T |
C |
18: 43,710,390 (GRCm39) |
D271G |
probably damaging |
Het |
| Krt16 |
CAGTATCTG |
C |
11: 100,137,610 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
T |
A |
2: 41,561,069 (GRCm39) |
E286V |
|
Het |
| Lrp2 |
C |
A |
2: 69,262,557 (GRCm39) |
G4415W |
probably damaging |
Het |
| Lrp2 |
C |
T |
2: 69,290,018 (GRCm39) |
R3607H |
probably damaging |
Het |
| Mcph1 |
A |
G |
8: 18,721,109 (GRCm39) |
K646E |
probably benign |
Het |
| Mgam |
T |
C |
6: 40,723,266 (GRCm39) |
L457P |
probably damaging |
Het |
| Mink1 |
T |
A |
11: 70,500,455 (GRCm39) |
S802T |
probably benign |
Het |
| Mrgprb5 |
C |
T |
7: 47,818,252 (GRCm39) |
G161E |
possibly damaging |
Het |
| Mroh1 |
G |
A |
15: 76,336,472 (GRCm39) |
G1565D |
possibly damaging |
Het |
| Mynn |
A |
G |
3: 30,661,201 (GRCm39) |
K51R |
probably benign |
Het |
| Myo1b |
A |
G |
1: 51,803,065 (GRCm39) |
F872S |
possibly damaging |
Het |
| Nbas |
A |
T |
12: 13,443,499 (GRCm39) |
T1185S |
probably benign |
Het |
| Oas1d |
A |
T |
5: 121,058,054 (GRCm39) |
I333L |
probably benign |
Het |
| Or10ak9 |
A |
T |
4: 118,726,019 (GRCm39) |
I14F |
possibly damaging |
Het |
| Or4d10 |
A |
G |
19: 12,051,061 (GRCm39) |
*312Q |
probably null |
Het |
| P2ry12 |
A |
G |
3: 59,124,632 (GRCm39) |
*348Q |
probably null |
Het |
| Pik3cb |
A |
T |
9: 98,928,711 (GRCm39) |
V848E |
probably damaging |
Het |
| Prss46 |
A |
G |
9: 110,679,189 (GRCm39) |
D130G |
probably damaging |
Het |
| Pygl |
T |
C |
12: 70,243,784 (GRCm39) |
I644V |
probably benign |
Het |
| Ralgds |
T |
A |
2: 28,435,901 (GRCm39) |
S509T |
probably damaging |
Het |
| Rdh16f2 |
A |
G |
10: 127,712,767 (GRCm39) |
D255G |
probably benign |
Het |
| Scaf4 |
T |
C |
16: 90,055,658 (GRCm39) |
D133G |
unknown |
Het |
| Sdk1 |
G |
A |
5: 142,130,731 (GRCm39) |
S1630N |
probably damaging |
Het |
| Sema5b |
C |
T |
16: 35,467,573 (GRCm39) |
T279I |
probably damaging |
Het |
| Slc24a3 |
T |
A |
2: 145,422,902 (GRCm39) |
L207H |
probably damaging |
Het |
| Speer2 |
A |
T |
16: 69,654,965 (GRCm39) |
S167T |
possibly damaging |
Het |
| Spock1 |
A |
G |
13: 57,583,898 (GRCm39) |
I339T |
unknown |
Het |
| Srsf6 |
T |
A |
2: 162,776,636 (GRCm39) |
S327T |
unknown |
Het |
| Syne1 |
T |
A |
10: 5,172,266 (GRCm39) |
E5058D |
probably benign |
Het |
| Tcf19 |
A |
G |
17: 35,825,428 (GRCm39) |
V243A |
probably benign |
Het |
| Tspan15 |
T |
C |
10: 62,029,734 (GRCm39) |
D122G |
probably benign |
Het |
| Ttc17 |
C |
T |
2: 94,205,495 (GRCm39) |
V284M |
probably damaging |
Het |
| Usp29 |
A |
C |
7: 6,964,219 (GRCm39) |
T21P |
possibly damaging |
Het |
| Uspl1 |
T |
A |
5: 149,141,082 (GRCm39) |
C360* |
probably null |
Het |
| Vmn1r181 |
A |
C |
7: 23,684,356 (GRCm39) |
S274R |
probably benign |
Het |
| Xrcc5 |
T |
C |
1: 72,433,132 (GRCm39) |
|
probably null |
Het |
| Zfp277 |
C |
T |
12: 40,378,729 (GRCm39) |
R376H |
probably damaging |
Het |
| Zfp629 |
T |
C |
7: 127,210,201 (GRCm39) |
E536G |
probably benign |
Het |
|
| Other mutations in Plcz1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01599:Plcz1
|
APN |
6 |
139,947,982 (GRCm39) |
splice site |
probably benign |
|
|
IGL01825:Plcz1
|
APN |
6 |
139,949,642 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01885:Plcz1
|
APN |
6 |
139,947,837 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02539:Plcz1
|
APN |
6 |
139,938,690 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02754:Plcz1
|
APN |
6 |
139,956,307 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03379:Plcz1
|
APN |
6 |
139,936,490 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL03412:Plcz1
|
APN |
6 |
139,961,823 (GRCm39) |
missense |
probably damaging |
0.99 |
|
helium
|
UTSW |
6 |
139,961,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0005:Plcz1
|
UTSW |
6 |
139,986,290 (GRCm39) |
splice site |
probably benign |
|
|
R0034:Plcz1
|
UTSW |
6 |
139,966,174 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0078:Plcz1
|
UTSW |
6 |
139,935,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0142:Plcz1
|
UTSW |
6 |
139,953,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0200:Plcz1
|
UTSW |
6 |
139,936,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0399:Plcz1
|
UTSW |
6 |
139,968,956 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0599:Plcz1
|
UTSW |
6 |
139,974,268 (GRCm39) |
missense |
probably benign |
|
|
R0608:Plcz1
|
UTSW |
6 |
139,936,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1854:Plcz1
|
UTSW |
6 |
139,938,775 (GRCm39) |
missense |
probably benign |
0.36 |
|
R2212:Plcz1
|
UTSW |
6 |
139,947,807 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2895:Plcz1
|
UTSW |
6 |
139,968,877 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R3413:Plcz1
|
UTSW |
6 |
139,947,807 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4239:Plcz1
|
UTSW |
6 |
139,986,344 (GRCm39) |
splice site |
probably null |
|
|
R4441:Plcz1
|
UTSW |
6 |
139,936,413 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4889:Plcz1
|
UTSW |
6 |
139,953,474 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4953:Plcz1
|
UTSW |
6 |
139,974,277 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5175:Plcz1
|
UTSW |
6 |
139,985,389 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5359:Plcz1
|
UTSW |
6 |
139,974,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5401:Plcz1
|
UTSW |
6 |
139,938,778 (GRCm39) |
splice site |
probably null |
|
|
R5505:Plcz1
|
UTSW |
6 |
139,961,942 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5558:Plcz1
|
UTSW |
6 |
139,985,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5581:Plcz1
|
UTSW |
6 |
139,968,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6252:Plcz1
|
UTSW |
6 |
139,953,329 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6569:Plcz1
|
UTSW |
6 |
139,953,433 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6750:Plcz1
|
UTSW |
6 |
139,974,164 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7073:Plcz1
|
UTSW |
6 |
139,968,849 (GRCm39) |
nonsense |
probably null |
|
|
R7204:Plcz1
|
UTSW |
6 |
139,956,150 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7309:Plcz1
|
UTSW |
6 |
139,968,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7503:Plcz1
|
UTSW |
6 |
139,936,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7634:Plcz1
|
UTSW |
6 |
139,961,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8192:Plcz1
|
UTSW |
6 |
139,968,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8302:Plcz1
|
UTSW |
6 |
139,974,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8679:Plcz1
|
UTSW |
6 |
139,949,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8985:Plcz1
|
UTSW |
6 |
139,961,903 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9052:Plcz1
|
UTSW |
6 |
139,968,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9203:Plcz1
|
UTSW |
6 |
139,953,481 (GRCm39) |
nonsense |
probably null |
|
|
R9336:Plcz1
|
UTSW |
6 |
139,985,446 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9598:Plcz1
|
UTSW |
6 |
139,985,484 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9779:Plcz1
|
UTSW |
6 |
139,947,882 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
Z1176:Plcz1
|
UTSW |
6 |
139,959,402 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCTGTGCTGGTCTCTAAC -3'
(R):5'- ATCTTCACTCTGTCAAATGCTAAGG -3'
Sequencing Primer
(F):5'- CTCTAACCTAGGTGCAAAGGTGATC -3'
(R):5'- AAAATCACTGCTCCCCTG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation