Incidental Mutation 'R5175:Plcz1'
| ID |
399138 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcz1
|
| Ensembl Gene |
ENSMUSG00000030230 |
| Gene Name |
phospholipase C, zeta 1 |
| Synonyms |
1700041H07Rik |
| MMRRC Submission |
042755-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5175 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
139935399-139987183 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 139985389 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 51
(I51L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032356
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032356]
[ENSMUST00000043797]
[ENSMUST00000129986]
[ENSMUST00000137148]
[ENSMUST00000149931]
|
| AlphaFold |
Q8K4D7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032356
AA Change: I51L
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000032356
Gene: ENSMUSG00000030230
AA Change: I51L
| 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: ENSMUST00000043797
|
| SMART Domains |
Protein: ENSMUSP00000038562
Gene: ENSMUSG00000041791
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:F-actin_cap_A
|
12 |
278 |
7.3e-65 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129986
AA Change: I51L
PolyPhen 2
Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137148
AA Change: I51L
PolyPhen 2
Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000149931
AA Change: I51L
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204342
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| 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 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 |
|---|
| Actr2 |
A |
C |
11: 20,030,114 (GRCm39) |
M215R |
probably benign |
Het |
| Ago2 |
A |
T |
15: 72,996,067 (GRCm39) |
I354K |
possibly damaging |
Het |
| Angel2 |
T |
A |
1: 190,673,081 (GRCm39) |
C72* |
probably null |
Het |
| Ank2 |
T |
A |
3: 126,797,673 (GRCm39) |
H679L |
probably damaging |
Het |
| Anks1 |
A |
T |
17: 28,261,562 (GRCm39) |
Q694L |
probably damaging |
Het |
| Aox3 |
C |
T |
1: 58,211,487 (GRCm39) |
P1015S |
probably benign |
Het |
| Arhgap35 |
C |
A |
7: 16,296,524 (GRCm39) |
R847L |
probably damaging |
Het |
| Bag4 |
C |
A |
8: 26,258,379 (GRCm39) |
C316F |
probably damaging |
Het |
| Camkv |
T |
A |
9: 107,824,581 (GRCm39) |
I258N |
probably damaging |
Het |
| Cpt1c |
G |
A |
7: 44,620,781 (GRCm39) |
A28V |
probably damaging |
Het |
| Cyp2j13 |
A |
T |
4: 95,956,452 (GRCm39) |
M219K |
possibly damaging |
Het |
| Dclk1 |
G |
T |
3: 55,154,648 (GRCm39) |
R26L |
possibly damaging |
Het |
| Diras2 |
A |
T |
13: 52,662,007 (GRCm39) |
I100N |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,448,550 (GRCm39) |
N4204K |
probably damaging |
Het |
| Dnase1l3 |
T |
A |
14: 7,987,386 (GRCm38) |
K55* |
probably null |
Het |
| Dusp6 |
A |
G |
10: 99,099,864 (GRCm39) |
D104G |
possibly damaging |
Het |
| Eif5b |
A |
G |
1: 38,084,468 (GRCm39) |
T819A |
probably damaging |
Het |
| Elfn2 |
A |
T |
15: 78,558,073 (GRCm39) |
L158H |
probably damaging |
Het |
| Erp44 |
T |
C |
4: 48,196,823 (GRCm39) |
T367A |
probably benign |
Het |
| Fasn |
A |
T |
11: 120,707,195 (GRCm39) |
D843E |
probably benign |
Het |
| Fbxw25 |
T |
C |
9: 109,493,631 (GRCm39) |
Y20C |
probably damaging |
Het |
| Fer1l6 |
G |
A |
15: 58,422,126 (GRCm39) |
G108E |
probably damaging |
Het |
| Fndc7 |
C |
T |
3: 108,776,482 (GRCm39) |
V520I |
probably benign |
Het |
| Gm17019 |
A |
G |
5: 15,082,817 (GRCm39) |
W46R |
possibly damaging |
Het |
| Gorab |
G |
T |
1: 163,214,214 (GRCm39) |
Q239K |
probably damaging |
Het |
| Gsdma2 |
A |
G |
11: 98,543,438 (GRCm39) |
T76A |
probably benign |
Het |
| Hnrnpll |
A |
C |
17: 80,341,499 (GRCm39) |
C513W |
possibly damaging |
Het |
| Ifrd2 |
T |
C |
9: 107,467,824 (GRCm39) |
L170P |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kcnma1 |
A |
G |
14: 23,386,106 (GRCm39) |
|
probably null |
Het |
| Kcnn3 |
T |
C |
3: 89,516,746 (GRCm39) |
F385S |
probably damaging |
Het |
| Kif18a |
T |
G |
2: 109,133,323 (GRCm39) |
|
probably null |
Het |
| Llgl2 |
A |
G |
11: 115,741,547 (GRCm39) |
K559R |
probably damaging |
Het |
| Lrrc8a |
T |
C |
2: 30,145,524 (GRCm39) |
C113R |
probably damaging |
Het |
| Mgat5 |
A |
G |
1: 127,387,649 (GRCm39) |
N535S |
probably damaging |
Het |
| Myh15 |
T |
G |
16: 48,889,789 (GRCm39) |
W127G |
possibly damaging |
Het |
| Npsr1 |
A |
G |
9: 24,046,111 (GRCm39) |
R77G |
probably benign |
Het |
| Nub1 |
T |
A |
5: 24,907,446 (GRCm39) |
S376R |
probably benign |
Het |
| Or14c44 |
T |
C |
7: 86,062,254 (GRCm39) |
V228A |
probably benign |
Het |
| Or4d10c |
G |
A |
19: 12,065,926 (GRCm39) |
P77S |
probably damaging |
Het |
| Or4k47 |
A |
T |
2: 111,451,771 (GRCm39) |
I216N |
possibly damaging |
Het |
| Or5al6 |
T |
C |
2: 85,976,301 (GRCm39) |
Y259C |
probably damaging |
Het |
| Or9i2 |
G |
A |
19: 13,815,680 (GRCm39) |
P286S |
probably damaging |
Het |
| Pcdh9 |
A |
G |
14: 94,125,879 (GRCm39) |
L97P |
probably damaging |
Het |
| Pkn2 |
A |
G |
3: 142,504,684 (GRCm39) |
Y831H |
probably damaging |
Het |
| Plekhg1 |
T |
C |
10: 3,915,516 (GRCm39) |
|
probably benign |
Het |
| Prdm9 |
A |
T |
17: 15,777,713 (GRCm39) |
S124T |
probably benign |
Het |
| Prkag1 |
A |
C |
15: 98,713,596 (GRCm39) |
V33G |
possibly damaging |
Het |
| Rab25 |
T |
A |
3: 88,450,728 (GRCm39) |
Y57F |
possibly damaging |
Het |
| Rb1cc1 |
A |
G |
1: 6,318,545 (GRCm39) |
I638V |
probably benign |
Het |
| Rest |
C |
A |
5: 77,416,219 (GRCm39) |
D144E |
probably damaging |
Het |
| Rpa2 |
A |
G |
4: 132,505,151 (GRCm39) |
D260G |
probably damaging |
Het |
| Sf3b3 |
A |
G |
8: 111,560,467 (GRCm39) |
V425A |
probably benign |
Het |
| Sidt2 |
A |
T |
9: 45,863,086 (GRCm39) |
M15K |
probably damaging |
Het |
| Slc22a17 |
A |
G |
14: 55,144,748 (GRCm39) |
L555P |
probably damaging |
Het |
| Smoc2 |
A |
G |
17: 14,595,719 (GRCm39) |
D282G |
possibly damaging |
Het |
| Sorcs3 |
G |
A |
19: 48,748,284 (GRCm39) |
|
probably null |
Het |
| Spmap2l |
C |
T |
5: 77,164,317 (GRCm39) |
P107S |
probably benign |
Het |
| Srcin1 |
A |
G |
11: 97,464,703 (GRCm39) |
W15R |
probably damaging |
Het |
| Stra6l |
A |
G |
4: 45,870,860 (GRCm39) |
T259A |
probably benign |
Het |
| Ube3a |
T |
C |
7: 58,938,465 (GRCm39) |
F741S |
probably damaging |
Het |
| Vasp |
C |
A |
7: 18,998,594 (GRCm39) |
M54I |
probably benign |
Het |
| Vmn1r174 |
A |
T |
7: 23,454,153 (GRCm39) |
H273L |
probably benign |
Het |
| Vmn2r50 |
T |
A |
7: 9,771,644 (GRCm39) |
I686F |
probably damaging |
Het |
| Vmn2r76 |
T |
C |
7: 85,877,915 (GRCm39) |
E494G |
probably benign |
Het |
| Zfp788 |
A |
G |
7: 41,298,753 (GRCm39) |
E443G |
probably damaging |
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 |
|
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 |
|
R7446:Plcz1
|
UTSW |
6 |
139,959,312 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
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'- ACGTTCTTAAAGGAGATGGGCC -3'
(R):5'- TAAATCCCTCAGTGAGTGACTTC -3'
Sequencing Primer
(F):5'- AGGTTCCTTGGAACTAGTCACAG -3'
(R):5'- CCTCAGTGAGTGACTTCGAGAATTTC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation