Incidental Mutation 'R2939:Plcb4'
ID 264551
Institutional Source Beutler Lab
Gene Symbol Plcb4
Ensembl Gene ENSMUSG00000039943
Gene Name phospholipase C, beta 4
Synonyms A930039J07Rik, C230058B11Rik
MMRRC Submission 040516-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2939 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 135500931-135856513 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 135781123 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000038409
Gene: ENSMUSG00000039943

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
SMART Domains Protein: ENSMUSP00000105736
Gene: ENSMUSG00000039943

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
SMART Domains Protein: ENSMUSP00000117638
Gene: ENSMUSG00000039943

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
SMART Domains Protein: ENSMUSP00000139274
Gene: ENSMUSG00000039943

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: 97.2%
  • 20x: 94.6%
Validation Efficiency 98% (62/63)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl11 T C 9: 107,808,409 (GRCm39) Y911H possibly damaging Het
Arhgef26 A C 3: 62,288,331 (GRCm39) K467T possibly damaging Het
Armcx6 A T X: 133,650,625 (GRCm39) W69R probably damaging Het
Asl T C 5: 130,042,245 (GRCm39) Y277C probably damaging Het
Atm T C 9: 53,406,011 (GRCm39) Y1219C probably damaging Het
Azin2 C T 4: 128,828,397 (GRCm39) C270Y probably benign Het
Brsk1 A T 7: 4,711,139 (GRCm39) I545F possibly damaging Het
Carm1 C A 9: 21,490,692 (GRCm39) probably null Het
Cfap410 A G 10: 77,817,507 (GRCm39) N78S probably benign Het
Cfap69 G A 5: 5,694,432 (GRCm39) A143V probably damaging Het
Cldn14 T C 16: 93,716,192 (GRCm39) K218R probably damaging Het
Col5a3 T C 9: 20,706,954 (GRCm39) K714R unknown Het
Crybg2 A G 4: 133,809,745 (GRCm39) H1517R possibly damaging Het
Dagla A C 19: 10,233,728 (GRCm39) F382C probably damaging Het
Dixdc1 G A 9: 50,622,259 (GRCm39) A25V probably damaging Het
Dock6 A G 9: 21,750,496 (GRCm39) F473L possibly damaging Het
Eif5 T C 12: 111,506,713 (GRCm39) C102R probably damaging Het
Faiml A G 9: 99,114,527 (GRCm39) C121R probably damaging Het
Fhdc1 A G 3: 84,364,577 (GRCm39) V223A possibly damaging Het
Garin4 T C 1: 190,896,103 (GRCm39) D180G possibly damaging Het
Gpatch8 A G 11: 102,399,010 (GRCm39) V74A unknown Het
Haghl A G 17: 26,004,060 (GRCm39) V8A possibly damaging Het
Ksr1 A G 11: 78,936,007 (GRCm39) probably null Het
Lama5 A C 2: 179,840,747 (GRCm39) Y584D probably damaging Het
Lgi4 C T 7: 30,767,253 (GRCm39) R427* probably null Het
Lrriq1 T A 10: 102,980,750 (GRCm39) S1462C probably damaging Het
Map3k4 C T 17: 12,480,157 (GRCm39) E682K probably damaging Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Nherf1 C T 11: 115,071,270 (GRCm39) R335C probably damaging Het
Nmnat2 C A 1: 152,950,474 (GRCm39) S53Y probably damaging Het
Or8b12i C A 9: 20,082,061 (GRCm39) G269W probably benign Het
Or8g34 G A 9: 39,373,226 (GRCm39) M166I probably benign Het
Pcsk7 C T 9: 45,827,322 (GRCm39) A363V probably damaging Het
Pdrg1 C T 2: 152,854,355 (GRCm39) G62R probably damaging Het
Pdzd7 A G 19: 45,033,862 (GRCm39) I74T possibly damaging Het
Pramel28 A G 4: 143,693,247 (GRCm39) V77A probably benign Het
Rnf25 A G 1: 74,635,047 (GRCm39) V135A possibly damaging Het
Rph3a A G 5: 121,118,212 (GRCm39) probably benign Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Senp6 G A 9: 80,051,124 (GRCm39) A1134T probably benign Het
Slc1a6 G T 10: 78,650,448 (GRCm39) *562L probably null Het
Slc26a6 G A 9: 108,734,236 (GRCm39) V206I probably benign Het
Slc45a3 A G 1: 131,905,637 (GRCm39) E206G probably damaging Het
Smc1a T A X: 150,816,695 (GRCm39) Y516N probably damaging Het
Smpd3 A G 8: 106,984,039 (GRCm39) V560A probably benign Het
Spata31g1 A G 4: 42,972,946 (GRCm39) K760E probably benign Het
Ssc4d T C 5: 135,994,578 (GRCm39) T51A possibly damaging Het
Suco A G 1: 161,676,220 (GRCm39) I386T probably damaging Het
Tecta A T 9: 42,289,290 (GRCm39) M425K possibly damaging Het
Tmprss11e G A 5: 86,869,266 (GRCm39) R96W probably damaging Het
Trim63 T C 4: 134,050,308 (GRCm39) probably benign Het
Trpv1 A G 11: 73,145,675 (GRCm39) K403R probably damaging Het
Ttc39d A G 17: 80,524,982 (GRCm39) Y547C probably damaging Het
Unc79 C T 12: 102,957,684 (GRCm39) T33I probably damaging Het
Usp47 G A 7: 111,681,743 (GRCm39) S518N probably damaging Het
Vmn2r22 T A 6: 123,614,594 (GRCm39) D332V probably damaging Het
Vmn2r55 A G 7: 12,385,832 (GRCm39) L716P probably damaging Het
Zfp558 T C 9: 18,367,924 (GRCm39) N288S possibly 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
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'- TTCCCAGAGAAAGCTGTGCTG -3'
(R):5'- CTAGGCCTAACGCTAGCAAC -3'

Sequencing Primer
(F):5'- CTGCAGGCAGGTATCACCAAG -3'
(R):5'- GACACTTTCTCATAACTAGAAC -3'
Posted On 2015-02-05