Incidental Mutation 'R5923:Plcb4'
ID 461669
Institutional Source Beutler Lab
Gene Symbol Plcb4
Ensembl Gene ENSMUSG00000039943
Gene Name phospholipase C, beta 4
Synonyms A930039J07Rik, C230058B11Rik
MMRRC Submission 043241-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5923 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 135500931-135856513 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 135803734 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 536 (K536*)
Ref Sequence ENSEMBL: ENSMUSP00000139274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035646] [ENSMUST00000110109] [ENSMUST00000134310] [ENSMUST00000184371]
AlphaFold Q91UZ1
Predicted Effect probably null
Transcript: ENSMUST00000035646
AA Change: K536*
SMART Domains Protein: ENSMUSP00000038409
Gene: ENSMUSG00000039943
AA Change: K536*

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000110109
AA Change: K536*
SMART Domains Protein: ENSMUSP00000105736
Gene: ENSMUSG00000039943
AA Change: K536*

DomainStartEndE-ValueType
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 probably null
Transcript: ENSMUST00000134310
AA Change: K536*
SMART Domains Protein: ENSMUSP00000117638
Gene: ENSMUSG00000039943
AA Change: K536*

DomainStartEndE-ValueType
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 probably null
Transcript: ENSMUST00000184371
AA Change: K536*
SMART Domains Protein: ENSMUSP00000139274
Gene: ENSMUSG00000039943
AA Change: K536*

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.3%
  • 20x: 91.6%
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 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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513I03Rik T G 10: 120,614,675 (GRCm39) probably benign Het
Abca9 A G 11: 110,051,378 (GRCm39) V106A probably benign Het
Arnt2 G T 7: 83,911,741 (GRCm39) T577K probably benign Het
Bod1l G A 5: 41,974,762 (GRCm39) T2184I probably damaging Het
Brpf3 G A 17: 29,025,610 (GRCm39) V228I possibly damaging Het
Cacna1d T C 14: 29,833,105 (GRCm39) N890S probably damaging Het
Cacna1s T A 1: 136,004,560 (GRCm39) M120K possibly damaging Het
Cdr2 A G 7: 120,581,224 (GRCm39) Y18H probably damaging Het
Cilp2 A G 8: 70,335,525 (GRCm39) F491S probably damaging Het
Cubn A T 2: 13,490,889 (GRCm39) S185T possibly damaging Het
Dst T C 1: 34,220,840 (GRCm39) S2215P probably benign Het
Echdc3 A G 2: 6,194,383 (GRCm39) V224A possibly damaging Het
Hivep3 G T 4: 119,953,490 (GRCm39) S602I possibly damaging Het
Itga2 T C 13: 115,021,055 (GRCm39) S99G probably benign Het
Kat6a A G 8: 23,429,495 (GRCm39) T1617A probably benign Het
Map1b T C 13: 99,569,661 (GRCm39) E1020G unknown Het
Nbeal1 T C 1: 60,287,554 (GRCm39) F933L probably damaging Het
Ntrk3 A T 7: 78,101,676 (GRCm39) I419N possibly damaging Het
Nup188 A G 2: 30,194,102 (GRCm39) I136V probably benign Het
Or8b38 T A 9: 37,973,154 (GRCm39) D179E probably benign Het
Polk A T 13: 96,631,923 (GRCm39) I270N probably damaging Het
Prl6a1 A T 13: 27,500,346 (GRCm39) M106L probably benign Het
Scap G T 9: 110,212,648 (GRCm39) D1027Y probably damaging Het
Spg11 A T 2: 121,923,959 (GRCm39) H787Q probably damaging Het
Tatdn3 T C 1: 190,781,507 (GRCm39) D215G probably damaging Het
Tbcd G A 11: 121,470,978 (GRCm39) C665Y probably benign Het
Tmc8 C T 11: 117,674,638 (GRCm39) R118C probably damaging Het
Ttn T A 2: 76,642,901 (GRCm39) H13245L probably damaging Het
Unc79 T C 12: 103,078,727 (GRCm39) S1631P probably damaging Het
Vmn1r12 G A 6: 57,136,020 (GRCm39) G39D probably benign Het
Vmn2r24 A G 6: 123,792,751 (GRCm39) S693G probably damaging Het
Zc3h3 G T 15: 75,657,413 (GRCm39) R593S probably damaging Het
Zfp598 T C 17: 24,896,523 (GRCm39) L200P probably damaging Het
Other mutations in Plcb4
AlleleSourceChrCoordTypePredicted EffectPPH 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
R6241:Plcb4 UTSW 2 135,752,094 (GRCm39) missense possibly damaging 0.80
R6492:Plcb4 UTSW 2 135,814,991 (GRCm39) nonsense probably null
R6514:Plcb4 UTSW 2 135,796,916 (GRCm39) missense probably benign 0.22
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'- GCGTAGGTCATATGAACCTTCTC -3'
(R):5'- CGGTGATATTTAAAAGTACCTGCCC -3'

Sequencing Primer
(F):5'- GTAGGTCATATGAACCTTCTCTCGAG -3'
(R):5'- TTTAAAAGTACCTGCCCAATTGG -3'
Posted On 2017-02-28