Incidental Mutation 'R6514:Plcb4'
| ID |
520493 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcb4
|
| Ensembl Gene |
ENSMUSG00000039943 |
| Gene Name |
phospholipase C, beta 4 |
| Synonyms |
A930039J07Rik, C230058B11Rik |
| MMRRC Submission |
044641-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6514 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
135500931-135856513 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 135796916 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 440
(H440Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139274
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035646]
[ENSMUST00000110109]
[ENSMUST00000134310]
[ENSMUST00000184371]
|
| AlphaFold |
Q91UZ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035646
AA Change: H440Q
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000038409
Gene: ENSMUSG00000039943
AA Change: H440Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_like
|
221 |
312 |
1.1e-26 |
PFAM |
|
PLCXc
|
313 |
463 |
2.68e-79 |
SMART |
|
low complexity region
|
498 |
509 |
N/A |
INTRINSIC |
|
PLCYc
|
565 |
681 |
2.9e-75 |
SMART |
|
C2
|
702 |
801 |
1.6e-14 |
SMART |
|
Pfam:DUF1154
|
909 |
955 |
4.3e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110109
AA Change: H440Q
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000105736
Gene: ENSMUSG00000039943
AA Change: H440Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_like
|
221 |
312 |
6.1e-27 |
PFAM |
|
PLCXc
|
313 |
463 |
2.68e-79 |
SMART |
|
low complexity region
|
498 |
509 |
N/A |
INTRINSIC |
|
PLCYc
|
565 |
681 |
2.9e-75 |
SMART |
|
C2
|
702 |
801 |
1.6e-14 |
SMART |
|
Pfam:DUF1154
|
913 |
955 |
1.2e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132686
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134310
AA Change: H440Q
PolyPhen 2
Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000117638
Gene: ENSMUSG00000039943
AA Change: H440Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_like
|
221 |
312 |
2.5e-27 |
PFAM |
|
PLCXc
|
313 |
463 |
2.68e-79 |
SMART |
|
low complexity region
|
498 |
509 |
N/A |
INTRINSIC |
|
PLCYc
|
577 |
693 |
2.9e-75 |
SMART |
|
C2
|
714 |
813 |
1.6e-14 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141025
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184371
AA Change: H440Q
PolyPhen 2
Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000139274
Gene: ENSMUSG00000039943
AA Change: H440Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_like
|
221 |
312 |
9e-27 |
PFAM |
|
PLCXc
|
313 |
463 |
2.68e-79 |
SMART |
|
low complexity region
|
498 |
509 |
N/A |
INTRINSIC |
|
PLCYc
|
565 |
681 |
2.9e-75 |
SMART |
|
C2
|
702 |
801 |
1.6e-14 |
SMART |
|
Pfam:DUF1154
|
909 |
955 |
4.1e-23 |
PFAM |
|
| Meta Mutation Damage Score |
0.0812 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.2%
|
| Validation Efficiency |
95% (35/37) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals in the retina. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2010]
PHENOTYPE: Homozygotes for targeted mutations may exhibit ataxia, impaired elimination of excess climbing fiber synapses in the developing cerebellum, abnormal cerebellar foliation, reduced visual processing ability and loss of circadian rhythm in constant darkness. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933414I15Rik |
G |
A |
11: 50,833,569 (GRCm39) |
A11V |
unknown |
Het |
| Add1 |
T |
A |
5: 34,763,317 (GRCm39) |
H168Q |
probably damaging |
Het |
| Apol7b |
C |
T |
15: 77,308,126 (GRCm39) |
R123Q |
probably benign |
Het |
| Arrdc3 |
A |
G |
13: 81,037,309 (GRCm39) |
E155G |
probably damaging |
Het |
| Capn7 |
T |
G |
14: 31,066,511 (GRCm39) |
D108E |
probably benign |
Het |
| Cdc6 |
A |
G |
11: 98,810,118 (GRCm39) |
T476A |
probably benign |
Het |
| Cntnap5c |
A |
G |
17: 58,637,165 (GRCm39) |
E1014G |
probably damaging |
Het |
| Crybg1 |
A |
T |
10: 43,873,211 (GRCm39) |
L1299H |
probably damaging |
Het |
| Duoxa1 |
A |
G |
2: 122,135,194 (GRCm39) |
S184P |
probably benign |
Het |
| Ech1 |
A |
G |
7: 28,525,440 (GRCm39) |
H65R |
possibly damaging |
Het |
| Egr3 |
T |
C |
14: 70,316,366 (GRCm39) |
L59P |
probably damaging |
Het |
| Eif4enif1 |
T |
A |
11: 3,190,996 (GRCm39) |
D724E |
probably null |
Het |
| Erbb2 |
A |
G |
11: 98,310,972 (GRCm39) |
D44G |
probably benign |
Het |
| Fer1l5 |
A |
G |
1: 36,442,697 (GRCm39) |
I739V |
probably benign |
Het |
| Gfm1 |
T |
C |
3: 67,380,879 (GRCm39) |
F665L |
probably benign |
Het |
| Gm10801 |
T |
A |
2: 98,494,214 (GRCm39) |
W119R |
probably benign |
Het |
| H2-M11 |
A |
T |
17: 36,859,839 (GRCm39) |
E277D |
probably damaging |
Het |
| Ighv1-66 |
T |
C |
12: 115,556,740 (GRCm39) |
Y114C |
possibly damaging |
Het |
| Irf1 |
C |
G |
11: 53,662,148 (GRCm39) |
L12V |
probably damaging |
Het |
| Itpr3 |
C |
T |
17: 27,310,344 (GRCm39) |
A403V |
probably benign |
Het |
| Ly6g |
C |
T |
15: 75,028,581 (GRCm39) |
P14S |
probably benign |
Het |
| Mfsd13a |
T |
C |
19: 46,363,064 (GRCm39) |
|
probably null |
Het |
| Mme |
T |
A |
3: 63,272,265 (GRCm39) |
C621* |
probably null |
Het |
| Mmp16 |
T |
C |
4: 18,116,123 (GRCm39) |
C576R |
probably damaging |
Het |
| Ngp |
A |
T |
9: 110,249,017 (GRCm39) |
I30F |
probably damaging |
Het |
| Or2q1 |
T |
A |
6: 42,794,930 (GRCm39) |
I175N |
probably damaging |
Het |
| Pdcd6ip |
G |
A |
9: 113,518,762 (GRCm39) |
T166I |
probably benign |
Het |
| Pgd |
C |
T |
4: 149,245,209 (GRCm39) |
|
probably null |
Het |
| Ppl |
A |
G |
16: 4,905,181 (GRCm39) |
S1705P |
probably damaging |
Het |
| Ryr1 |
A |
G |
7: 28,746,266 (GRCm39) |
F3831S |
probably damaging |
Het |
| Serpine2 |
A |
C |
1: 79,799,287 (GRCm39) |
|
probably null |
Het |
| Skor2 |
T |
A |
18: 76,950,389 (GRCm39) |
W906R |
probably damaging |
Het |
| Tle6 |
G |
A |
10: 81,427,810 (GRCm39) |
H482Y |
probably damaging |
Het |
| Ufl1 |
T |
A |
4: 25,262,238 (GRCm39) |
D336V |
probably damaging |
Het |
| Vav1 |
T |
C |
17: 57,634,660 (GRCm39) |
F832L |
probably damaging |
Het |
|
| Other mutations in Plcb4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00897:Plcb4
|
APN |
2 |
135,813,718 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL01405:Plcb4
|
APN |
2 |
135,792,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01522:Plcb4
|
APN |
2 |
135,844,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01589:Plcb4
|
APN |
2 |
135,809,038 (GRCm39) |
missense |
probably benign |
|
|
IGL02090:Plcb4
|
APN |
2 |
135,789,041 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02247:Plcb4
|
APN |
2 |
135,836,245 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02259:Plcb4
|
APN |
2 |
135,752,166 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02338:Plcb4
|
APN |
2 |
135,842,100 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02625:Plcb4
|
APN |
2 |
135,803,714 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL03026:Plcb4
|
APN |
2 |
135,792,349 (GRCm39) |
splice site |
probably benign |
|
|
IGL03111:Plcb4
|
APN |
2 |
135,818,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0044:Plcb4
|
UTSW |
2 |
135,813,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0066:Plcb4
|
UTSW |
2 |
135,803,689 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0066:Plcb4
|
UTSW |
2 |
135,803,689 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0143:Plcb4
|
UTSW |
2 |
135,818,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0234:Plcb4
|
UTSW |
2 |
135,823,995 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0234:Plcb4
|
UTSW |
2 |
135,823,995 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0348:Plcb4
|
UTSW |
2 |
135,810,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0557:Plcb4
|
UTSW |
2 |
135,796,269 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0591:Plcb4
|
UTSW |
2 |
135,796,932 (GRCm39) |
splice site |
probably benign |
|
|
R0975:Plcb4
|
UTSW |
2 |
135,829,832 (GRCm39) |
splice site |
probably benign |
|
|
R1187:Plcb4
|
UTSW |
2 |
135,810,314 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1235:Plcb4
|
UTSW |
2 |
135,814,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1445:Plcb4
|
UTSW |
2 |
135,842,109 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1562:Plcb4
|
UTSW |
2 |
135,812,367 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1594:Plcb4
|
UTSW |
2 |
135,812,310 (GRCm39) |
splice site |
probably benign |
|
|
R1920:Plcb4
|
UTSW |
2 |
135,854,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2041:Plcb4
|
UTSW |
2 |
135,780,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2141:Plcb4
|
UTSW |
2 |
135,818,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2142:Plcb4
|
UTSW |
2 |
135,818,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2202:Plcb4
|
UTSW |
2 |
135,844,514 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2203:Plcb4
|
UTSW |
2 |
135,844,514 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2204:Plcb4
|
UTSW |
2 |
135,844,514 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2250:Plcb4
|
UTSW |
2 |
135,813,781 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2291:Plcb4
|
UTSW |
2 |
135,781,903 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2326:Plcb4
|
UTSW |
2 |
135,781,893 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2442:Plcb4
|
UTSW |
2 |
135,792,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2939:Plcb4
|
UTSW |
2 |
135,781,123 (GRCm39) |
splice site |
probably benign |
|
|
R3774:Plcb4
|
UTSW |
2 |
135,800,065 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3875:Plcb4
|
UTSW |
2 |
135,844,552 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4594:Plcb4
|
UTSW |
2 |
135,844,519 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4673:Plcb4
|
UTSW |
2 |
135,774,191 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4812:Plcb4
|
UTSW |
2 |
135,849,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5084:Plcb4
|
UTSW |
2 |
135,844,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5468:Plcb4
|
UTSW |
2 |
135,809,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5498:Plcb4
|
UTSW |
2 |
135,818,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5923:Plcb4
|
UTSW |
2 |
135,803,734 (GRCm39) |
nonsense |
probably null |
|
|
R6241:Plcb4
|
UTSW |
2 |
135,752,094 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6492:Plcb4
|
UTSW |
2 |
135,814,991 (GRCm39) |
nonsense |
probably null |
|
|
R6570:Plcb4
|
UTSW |
2 |
135,824,906 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6721:Plcb4
|
UTSW |
2 |
135,752,157 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6915:Plcb4
|
UTSW |
2 |
135,789,035 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6991:Plcb4
|
UTSW |
2 |
135,752,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7040:Plcb4
|
UTSW |
2 |
135,774,182 (GRCm39) |
missense |
probably benign |
|
|
R7086:Plcb4
|
UTSW |
2 |
135,849,767 (GRCm39) |
missense |
probably benign |
|
|
R7114:Plcb4
|
UTSW |
2 |
135,824,043 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7249:Plcb4
|
UTSW |
2 |
135,849,741 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7264:Plcb4
|
UTSW |
2 |
135,807,000 (GRCm39) |
missense |
probably benign |
|
|
R7361:Plcb4
|
UTSW |
2 |
135,818,068 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7426:Plcb4
|
UTSW |
2 |
135,842,139 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7429:Plcb4
|
UTSW |
2 |
135,810,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7430:Plcb4
|
UTSW |
2 |
135,810,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8010:Plcb4
|
UTSW |
2 |
135,749,480 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8141:Plcb4
|
UTSW |
2 |
135,781,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9072:Plcb4
|
UTSW |
2 |
135,849,795 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9119:Plcb4
|
UTSW |
2 |
135,809,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9287:Plcb4
|
UTSW |
2 |
135,829,817 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9448:Plcb4
|
UTSW |
2 |
135,752,045 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9578:Plcb4
|
UTSW |
2 |
135,829,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Plcb4
|
UTSW |
2 |
135,800,658 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCCCTGCACTTTGTAAAGC -3'
(R):5'- AGCAGCCGGATTAAACCAAGTC -3'
Sequencing Primer
(F):5'- CCCTGCACTTTGTAAAGCAGAGG -3'
(R):5'- CCGGATTAAACCAAGTCAGATG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation