Incidental Mutation 'R0975:Plcb4'
ID 81031
Institutional Source Beutler Lab
Gene Symbol Plcb4
Ensembl Gene ENSMUSG00000039943
Gene Name phospholipase C, beta 4
Synonyms A930039J07Rik, C230058B11Rik
MMRRC Submission 039104-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0975 (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 135829832 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035646] [ENSMUST00000110109] [ENSMUST00000134310] [ENSMUST00000147744] [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 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 probably benign
Transcript: ENSMUST00000147744
SMART Domains Protein: ENSMUSP00000117578
Gene: ENSMUSG00000039943

DomainStartEndE-ValueType
Pfam:DUF1154 1 16 1.7e-7 PFAM
coiled coil region 187 217 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150072
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: 99.5%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.8%
Validation Efficiency 98% (52/53)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l A G 8: 44,078,155 (GRCm39) F690L probably benign Het
Ampd2 T C 3: 107,984,437 (GRCm39) Y464C probably damaging Het
Arap2 A T 5: 62,888,229 (GRCm39) probably benign Het
Arhgap5 T G 12: 52,563,927 (GRCm39) N299K possibly damaging Het
Atl3 G A 19: 7,498,500 (GRCm39) W210* probably null Het
Bag1 T C 4: 40,937,152 (GRCm39) N320D probably benign Het
Ccdc39 T C 3: 33,898,274 (GRCm39) N24D probably damaging Het
Ccdc88b G A 19: 6,823,993 (GRCm39) P1420L probably damaging Het
Cdr2 G A 7: 120,557,614 (GRCm39) P304S probably benign Het
Col20a1 A T 2: 180,648,619 (GRCm39) I969F possibly damaging Het
Coro1c C G 5: 114,020,182 (GRCm39) R11P probably damaging Het
Cracd T C 5: 77,004,165 (GRCm39) probably benign Het
Cul7 T A 17: 46,974,116 (GRCm39) L1467H probably damaging Het
Cyp2c67 T G 19: 39,597,622 (GRCm39) K459Q possibly damaging Het
Cyp2c68 T C 19: 39,691,802 (GRCm39) T374A possibly damaging Het
Efcab6 T A 15: 83,857,532 (GRCm39) N289I probably benign Het
Elmo1 T A 13: 20,435,307 (GRCm39) I126N probably damaging Het
Esr2 C T 12: 76,192,082 (GRCm39) M315I possibly damaging Het
Fbxw14 T A 9: 109,100,307 (GRCm39) N449I probably benign Het
Frmpd1 C T 4: 45,279,000 (GRCm39) T575I probably benign Het
Gm14403 T G 2: 177,201,217 (GRCm39) N145K probably damaging Het
Gnl2 A G 4: 124,942,171 (GRCm39) D392G probably damaging Het
Hmcn1 A C 1: 150,453,128 (GRCm39) S5396A probably benign Het
Hoxd12 G T 2: 74,506,278 (GRCm39) R230L probably damaging Het
Khsrp T A 17: 57,334,066 (GRCm39) D154V possibly damaging Het
Klhl28 C T 12: 64,998,462 (GRCm39) R344H possibly damaging Het
Klhl3 C T 13: 58,161,677 (GRCm39) V473M possibly damaging Het
Larp1b A G 3: 40,924,925 (GRCm39) E134G probably damaging Het
Mcm9 G A 10: 53,414,742 (GRCm39) Q113* probably null Het
Mug1 A T 6: 121,855,498 (GRCm39) D944V probably damaging Het
Myh6 A G 14: 55,190,826 (GRCm39) S950P probably damaging Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Or1n1b C A 2: 36,780,562 (GRCm39) M99I possibly damaging Het
Or5k14 T A 16: 58,693,513 (GRCm39) probably null Het
Pomt1 T A 2: 32,143,907 (GRCm39) probably null Het
Prpf8 T C 11: 75,399,500 (GRCm39) probably benign Het
Rad9b C T 5: 122,472,320 (GRCm39) probably null Het
Recql5 A C 11: 115,814,082 (GRCm39) D240E probably damaging Het
Sec31a A C 5: 100,543,763 (GRCm39) probably null Het
Slc5a4b A G 10: 75,917,241 (GRCm39) V265A probably benign Het
Snx29 A T 16: 11,165,735 (GRCm39) D7V possibly damaging Het
Stk31 C G 6: 49,400,343 (GRCm39) D389E probably damaging Het
Tmeff2 T C 1: 50,977,364 (GRCm39) probably benign Het
Tmem131 C T 1: 36,893,966 (GRCm39) A146T probably damaging Het
Tmem63c T A 12: 87,121,843 (GRCm39) probably benign Het
Tonsl T A 15: 76,523,132 (GRCm39) D119V probably damaging Het
Trmt10a G A 3: 137,862,570 (GRCm39) E287K probably benign Het
Vmn1r192 T A 13: 22,371,633 (GRCm39) M196L probably damaging Het
Vmn2r9 T G 5: 108,991,169 (GRCm39) T731P probably damaging Het
Wfdc6b G A 2: 164,455,705 (GRCm39) M11I probably damaging Het
Ypel1 T A 16: 16,925,077 (GRCm39) T32S probably benign Het
Zfp827 A G 8: 79,787,814 (GRCm39) T327A probably benign 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
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'- GCCCATGCAAGCTGTTTTGGAAG -3'
(R):5'- AAGGCACCAGCAGTTACCAGTGAG -3'

Sequencing Primer
(F):5'- ggagagagggagagagagg -3'
(R):5'- GATAACGGGGGTCACACTTG -3'
Posted On 2013-11-07