Incidental Mutation 'R2291:Plcb4'
ID 244329
Institutional Source Beutler Lab
Gene Symbol Plcb4
Ensembl Gene ENSMUSG00000039943
Gene Name phospholipase C, beta 4
Synonyms A930039J07Rik, C230058B11Rik
MMRRC Submission 040290-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2291 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 135500931-135856513 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 135781903 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 241 (Q241H)
Ref Sequence ENSEMBL: ENSMUSP00000105736 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035646] [ENSMUST00000110109] [ENSMUST00000134310] [ENSMUST00000184371]
AlphaFold Q91UZ1
Predicted Effect probably benign
Transcript: ENSMUST00000035646
AA Change: Q241H

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000038409
Gene: ENSMUSG00000039943
AA Change: Q241H

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 benign
Transcript: ENSMUST00000110109
AA Change: Q241H

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000105736
Gene: ENSMUSG00000039943
AA Change: Q241H

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: ENSMUST00000127044
Predicted Effect probably benign
Transcript: ENSMUST00000134310
AA Change: Q241H

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000117638
Gene: ENSMUSG00000039943
AA Change: Q241H

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 probably benign
Transcript: ENSMUST00000184371
AA Change: Q241H

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000139274
Gene: ENSMUSG00000039943
AA Change: Q241H

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: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A T 3: 124,207,450 (GRCm39) I247N probably damaging Het
Afdn A G 17: 14,109,153 (GRCm39) K1559E probably damaging Het
Ankhd1 C T 18: 36,777,386 (GRCm39) T1523I probably benign Het
Apc T A 18: 34,445,544 (GRCm39) N795K probably benign Het
Arhgap26 G T 18: 39,490,751 (GRCm39) probably benign Het
Atm C T 9: 53,402,209 (GRCm39) probably null Het
Atp1a4 T C 1: 172,072,473 (GRCm39) N394D probably damaging Het
Brinp3 T A 1: 146,776,812 (GRCm39) S420T possibly damaging Het
Cacna1d G T 14: 29,764,299 (GRCm39) R2078S probably damaging Het
Cacna1e T C 1: 154,279,429 (GRCm39) D1720G probably damaging Het
Camk2a T A 18: 61,097,031 (GRCm39) V38E probably damaging Het
Camk4 G A 18: 33,240,996 (GRCm39) probably null Het
Ccr7 G A 11: 99,036,161 (GRCm39) R254C probably damaging Het
Celf5 C T 10: 81,302,881 (GRCm39) G267D probably damaging Het
Cfap65 G A 1: 74,965,634 (GRCm39) P459S probably damaging Het
Chd1l T C 3: 97,498,599 (GRCm39) K267E probably damaging Het
Chl1 T A 6: 103,692,354 (GRCm39) Y331N probably damaging Het
Cltc G A 11: 86,624,448 (GRCm39) T158I probably benign Het
Col16a1 T A 4: 129,960,833 (GRCm39) D430E unknown Het
Cspg4 T C 9: 56,800,027 (GRCm39) V1597A probably damaging Het
Cstf2t T A 19: 31,062,264 (GRCm39) L600H probably benign Het
Cyp27b1 T C 10: 126,884,163 (GRCm39) V5A possibly damaging Het
Depdc5 C A 5: 33,136,746 (GRCm39) Q1339K probably damaging Het
Diaph3 G T 14: 87,203,882 (GRCm39) P592Q probably damaging Het
Dync2i1 A T 12: 116,193,191 (GRCm39) probably null Het
Epha8 T C 4: 136,660,658 (GRCm39) M687V probably damaging Het
Fhod1 T A 8: 106,063,596 (GRCm39) probably benign Het
Gls2 C A 10: 128,043,479 (GRCm39) S73* probably null Het
Gm3604 T A 13: 62,519,657 (GRCm39) M33L probably damaging Het
Gpr39 A G 1: 125,605,278 (GRCm39) T69A probably benign Het
Hal T C 10: 93,339,398 (GRCm39) F496L probably damaging Het
Hipk1 T C 3: 103,668,926 (GRCm39) E490G probably damaging Het
Ints7 T G 1: 191,338,315 (GRCm39) probably null Het
Itpr3 A G 17: 27,332,553 (GRCm39) E1799G possibly damaging Het
Kif11 T A 19: 37,395,451 (GRCm39) M570K probably benign Het
Kif18b G T 11: 102,799,096 (GRCm39) Q702K probably damaging Het
Kif19a A G 11: 114,681,019 (GRCm39) T247A probably damaging Het
Lama3 A G 18: 12,658,136 (GRCm39) E360G probably damaging Het
Loxl3 G T 6: 83,014,469 (GRCm39) A126S probably benign Het
Mc5r C T 18: 68,472,435 (GRCm39) R265W probably damaging Het
Mpl A G 4: 118,306,197 (GRCm39) V340A probably benign Het
Mrpl13 G T 15: 55,411,615 (GRCm39) H56Q probably damaging Het
Msr1 T C 8: 40,077,263 (GRCm39) T116A probably benign Het
N4bp3 T C 11: 51,536,930 (GRCm39) K48E probably damaging Het
Naaladl1 A G 19: 6,156,225 (GRCm39) T104A probably benign Het
Neu1 C T 17: 35,151,742 (GRCm39) R179W probably damaging Het
Or10d5 T C 9: 39,861,630 (GRCm39) T146A probably benign Het
Or8k21 A T 2: 86,145,524 (GRCm39) Y35* probably null Het
Osbp G T 19: 11,951,198 (GRCm39) E248* probably null Het
Otx1 T A 11: 21,946,634 (GRCm39) probably benign Het
Parp4 A T 14: 56,851,274 (GRCm39) Q759L probably damaging Het
Pax6 A C 2: 105,516,228 (GRCm39) S169R probably benign Het
Pigg T G 5: 108,480,783 (GRCm39) I389M probably damaging Het
Pla2g4a C A 1: 149,776,940 (GRCm39) V59F probably damaging Het
Plpp6 A G 19: 28,941,720 (GRCm39) D107G probably damaging Het
Ppp6r2 T A 15: 89,159,690 (GRCm39) L459Q probably damaging Het
Prss55 A T 14: 64,313,171 (GRCm39) W238R probably damaging Het
Rgl1 C T 1: 152,412,032 (GRCm39) E446K probably damaging Het
Ric3 C T 7: 108,638,090 (GRCm39) G221D probably damaging Het
Rnf167 T C 11: 70,540,129 (GRCm39) F83S probably damaging Het
Ryr1 C T 7: 28,798,202 (GRCm39) V947M probably damaging Het
Scn1a A G 2: 66,119,312 (GRCm39) L1397P probably benign Het
Sh3bp1 T A 15: 78,802,519 (GRCm39) V251E possibly damaging Het
Slc25a10 A T 11: 120,387,900 (GRCm39) I198L probably benign Het
Smoc2 A T 17: 14,589,233 (GRCm39) N234I possibly damaging Het
Spdl1 T A 11: 34,710,136 (GRCm39) K382* probably null Het
Ssrp1 G A 2: 84,872,660 (GRCm39) probably null Het
Tril G T 6: 53,795,012 (GRCm39) R737S probably damaging Het
Triqk T A 4: 12,974,817 (GRCm39) probably null Het
Ttc19 T C 11: 62,174,519 (GRCm39) Y128H probably damaging Het
Vmn1r15 T C 6: 57,235,677 (GRCm39) S182P possibly damaging Het
Vmn1r226 A G 17: 20,908,475 (GRCm39) I236V probably damaging Het
Vmn2r120 A C 17: 57,816,479 (GRCm39) N625K probably damaging Het
Vmn2r78 T C 7: 86,569,362 (GRCm39) I85T probably damaging Het
Whamm C T 7: 81,241,519 (GRCm39) R277* probably null Het
Wnt7a C T 6: 91,371,468 (GRCm39) V165I probably benign Het
Zbtb40 A T 4: 136,712,328 (GRCm39) Y1127N possibly damaging Het
Zfyve1 A T 12: 83,594,705 (GRCm39) H762Q 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
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'- CGTGGGAATGTTATCTTTCCGC -3'
(R):5'- TTTGCACCTGGTCAAGCCAC -3'

Sequencing Primer
(F):5'- GGAATGTTATCTTTCCGCTATCATTG -3'
(R):5'- CTGGTCAAGCCACCATGGAAAG -3'
Posted On 2014-10-30