Incidental Mutation 'R0557:Plcb4'
ID 45603
Institutional Source Beutler Lab
Gene Symbol Plcb4
Ensembl Gene ENSMUSG00000039943
Gene Name phospholipase C, beta 4
Synonyms A930039J07Rik, C230058B11Rik
MMRRC Submission 038749-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0557 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 135500931-135856513 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 135796269 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 388 (V388I)
Ref Sequence ENSEMBL: ENSMUSP00000105736 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035646] [ENSMUST00000110109] [ENSMUST00000134310] [ENSMUST00000184371]
AlphaFold Q91UZ1
Predicted Effect probably damaging
Transcript: ENSMUST00000035646
AA Change: V388I

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000038409
Gene: ENSMUSG00000039943
AA Change: V388I

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 damaging
Transcript: ENSMUST00000110109
AA Change: V388I

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105736
Gene: ENSMUSG00000039943
AA Change: V388I

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 noncoding transcript
Transcript: ENSMUST00000132686
Predicted Effect probably damaging
Transcript: ENSMUST00000134310
AA Change: V388I

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000117638
Gene: ENSMUSG00000039943
AA Change: V388I

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 noncoding transcript
Transcript: ENSMUST00000141025
Predicted Effect possibly damaging
Transcript: ENSMUST00000184371
AA Change: V388I

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000139274
Gene: ENSMUSG00000039943
AA Change: V388I

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: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik G A 10: 78,903,519 (GRCm39) H266Y probably damaging Het
Abi3bp C T 16: 56,488,750 (GRCm39) R1294C probably damaging Het
Acot3 T C 12: 84,105,630 (GRCm39) Y366H probably damaging Het
Ago1 A G 4: 126,353,817 (GRCm39) V254A probably benign Het
Ahnak T A 19: 8,979,308 (GRCm39) D197E probably benign Het
Aldh1b1 A T 4: 45,802,647 (GRCm39) T62S probably benign Het
Alox12e T C 11: 70,212,274 (GRCm39) R135G possibly damaging Het
Amn1 T C 6: 149,072,503 (GRCm39) Y78C possibly damaging Het
Ankmy2 G A 12: 36,237,765 (GRCm39) S288N probably benign Het
Ano3 A T 2: 110,693,297 (GRCm39) probably null Het
Arfgap3 T C 15: 83,187,386 (GRCm39) D491G probably damaging Het
Arhgap15 T C 2: 44,006,629 (GRCm39) S249P possibly damaging Het
Atp9b A G 18: 80,809,137 (GRCm39) V211A probably damaging Het
Cabin1 A G 10: 75,562,751 (GRCm39) Y12H probably damaging Het
Cdkn2aip T C 8: 48,165,977 (GRCm39) T110A probably damaging Het
Cemip2 C T 19: 21,789,267 (GRCm39) A567V probably benign Het
Chchd6 A G 6: 89,551,569 (GRCm39) S31P probably damaging Het
Chrna3 A G 9: 54,923,149 (GRCm39) Y220H probably damaging Het
Ctu1 A G 7: 43,326,583 (GRCm39) D414G unknown Het
Cxxc1 C T 18: 74,351,845 (GRCm39) R241W possibly damaging Het
Cyp3a16 A G 5: 145,406,398 (GRCm39) I18T unknown Het
Dip2c A T 13: 9,603,495 (GRCm39) I405F possibly damaging Het
Disp3 A T 4: 148,325,861 (GRCm39) M1299K possibly damaging Het
Dnah9 T G 11: 65,975,492 (GRCm39) H1519P probably damaging Het
Ehd3 C A 17: 74,136,928 (GRCm39) Q366K probably benign Het
Exosc3 A T 4: 45,316,957 (GRCm39) M232K probably damaging Het
Fancm T C 12: 65,165,216 (GRCm39) probably null Het
Fgfr2 A G 7: 129,820,811 (GRCm39) V241A probably damaging Het
Gdf2 C T 14: 33,663,178 (GRCm39) P24L probably damaging Het
Hars2 T C 18: 36,924,130 (GRCm39) I489T possibly damaging Het
Ice1 T C 13: 70,749,310 (GRCm39) I1945V probably benign Het
Il33 A C 19: 29,932,036 (GRCm39) N143T probably damaging Het
Ilvbl G A 10: 78,419,321 (GRCm39) W313* probably null Het
Insyn2a A G 7: 134,520,434 (GRCm39) L32P probably damaging Het
Isca1 G T 13: 59,904,788 (GRCm39) Q91K possibly damaging Het
Kcnh5 T A 12: 75,161,323 (GRCm39) Y195F probably damaging Het
Lama4 T G 10: 38,964,393 (GRCm39) I1355S probably benign Het
Lonrf1 T C 8: 36,697,574 (GRCm39) D470G probably benign Het
Mak A G 13: 41,193,135 (GRCm39) Y446H probably benign Het
Mki67 C T 7: 135,300,990 (GRCm39) S1348N possibly damaging Het
Mpzl3 A G 9: 44,977,806 (GRCm39) Y138C probably damaging Het
Myh8 T C 11: 67,192,624 (GRCm39) L1501P possibly damaging Het
Naa35 A G 13: 59,775,778 (GRCm39) E552G probably damaging Het
Ncor2 A T 5: 125,183,369 (GRCm39) L200* probably null Het
Nrm T C 17: 36,175,524 (GRCm39) V210A probably damaging Het
Nt5e T A 9: 88,248,519 (GRCm39) N405K probably damaging Het
Or1j4 T A 2: 36,740,760 (GRCm39) I234N possibly damaging Het
Or1o11 T A 17: 37,756,712 (GRCm39) I100N probably damaging Het
Orc2 T C 1: 58,508,846 (GRCm39) S434G probably damaging Het
Ppm1l A G 3: 69,405,234 (GRCm39) D177G probably benign Het
Prl8a2 A T 13: 27,536,875 (GRCm39) R165* probably null Het
Ptbp3 G A 4: 59,517,684 (GRCm39) R66* probably null Het
Pten A G 19: 32,795,290 (GRCm39) T286A probably benign Het
Rac2 C T 15: 78,449,174 (GRCm39) V113M probably damaging Het
Rai1 C T 11: 60,081,321 (GRCm39) T1795I probably benign Het
Ros1 T G 10: 51,961,359 (GRCm39) K1792Q possibly damaging Het
Sema6a A G 18: 47,382,567 (GRCm39) V660A probably benign Het
Slc22a23 C T 13: 34,528,366 (GRCm39) G139S possibly damaging Het
Slc26a5 A G 5: 22,024,762 (GRCm39) S441P probably damaging Het
Slc27a3 A G 3: 90,294,163 (GRCm39) L462P probably damaging Het
Spag5 T A 11: 78,205,037 (GRCm39) S607R probably damaging Het
Spata18 A T 5: 73,809,013 (GRCm39) N29Y probably damaging Het
Spata20 C T 11: 94,376,048 (GRCm39) R22H probably benign Het
Spsb2 A C 6: 124,787,355 (GRCm39) Y263S probably damaging Het
Sptbn4 C A 7: 27,107,753 (GRCm39) E885* probably null Het
Syne2 T C 12: 75,976,075 (GRCm39) I1175T probably benign Het
Tmem209 A C 6: 30,501,913 (GRCm39) H253Q probably damaging Het
Trip12 A T 1: 84,702,468 (GRCm39) D788E probably damaging Het
Usp34 T C 11: 23,353,848 (GRCm39) S1509P probably damaging Het
Utp20 A T 10: 88,584,173 (GRCm39) D2661E probably damaging Het
Vars1 C A 17: 35,223,960 (GRCm39) P264Q possibly damaging Het
Vmn2r66 T G 7: 84,643,972 (GRCm39) S813R probably damaging Het
Wipf2 C A 11: 98,782,915 (GRCm39) Q114K possibly damaging Het
Wnt5b G T 6: 119,410,779 (GRCm39) H220Q probably damaging Het
Xirp2 A G 2: 67,346,695 (GRCm39) T2979A probably benign Het
Zfyve9 A G 4: 108,531,708 (GRCm39) V408A probably damaging Het
Zzef1 T C 11: 72,808,556 (GRCm39) S2744P 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
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
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'- AGCAGGCCACTCAAGTAATGTCAC -3'
(R):5'- TGCGACTTAGCACATCGGACAG -3'

Sequencing Primer
(F):5'- GCTTTGACTGAAAAGCAATGTCC -3'
(R):5'- TCGGACAGCAAACTACTCAGTTAG -3'
Posted On 2013-06-11