Incidental Mutation 'R2164:Plcb1'
ID 235330
Institutional Source Beutler Lab
Gene Symbol Plcb1
Ensembl Gene ENSMUSG00000051177
Gene Name phospholipase C, beta 1
Synonyms 3110043I21Rik
MMRRC Submission 040167-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.226) question?
Stock # R2164 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 134786067-135475258 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 135346330 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 781 (N781S)
Ref Sequence ENSEMBL: ENSMUSP00000118756 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070724] [ENSMUST00000110116] [ENSMUST00000131552]
AlphaFold Q9Z1B3
Predicted Effect possibly damaging
Transcript: ENSMUST00000070724
AA Change: N781S

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000064844
Gene: ENSMUSG00000051177
AA Change: N781S

DomainStartEndE-ValueType
Pfam:EF-hand_like 224 315 2.2e-26 PFAM
PLCXc 316 467 2.85e-74 SMART
low complexity region 491 501 N/A INTRINSIC
PLCYc 540 656 2e-69 SMART
C2 677 776 1.55e-12 SMART
low complexity region 871 885 N/A INTRINSIC
Pfam:DUF1154 903 946 1.3e-7 PFAM
low complexity region 967 984 N/A INTRINSIC
Pfam:PLC-beta_C 997 1155 1.9e-64 PFAM
low complexity region 1157 1168 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000110116
AA Change: N781S

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000105743
Gene: ENSMUSG00000051177
AA Change: N781S

DomainStartEndE-ValueType
Pfam:EF-hand_like 224 315 4.1e-26 PFAM
PLCXc 316 467 2.85e-74 SMART
low complexity region 491 501 N/A INTRINSIC
PLCYc 540 656 2e-69 SMART
C2 677 776 1.55e-12 SMART
low complexity region 871 885 N/A INTRINSIC
Pfam:DUF1154 903 946 1.1e-9 PFAM
low complexity region 967 984 N/A INTRINSIC
Pfam:PLC-beta_C 1003 1176 2.9e-61 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000131552
AA Change: N781S

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000118756
Gene: ENSMUSG00000051177
AA Change: N781S

DomainStartEndE-ValueType
Pfam:EF-hand_like 224 315 3.9e-26 PFAM
PLCXc 316 467 2.85e-74 SMART
low complexity region 491 501 N/A INTRINSIC
PLCYc 540 656 2e-69 SMART
C2 677 776 1.55e-12 SMART
low complexity region 871 885 N/A INTRINSIC
Pfam:DUF1154 903 946 1e-9 PFAM
low complexity region 967 984 N/A INTRINSIC
Pfam:PLC-beta_C 1003 1148 8e-51 PFAM
low complexity region 1157 1168 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153402
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
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. This gene is activated by two G-protein alpha subunits, alpha-q and alpha-11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit spontaneous seizures and high mortality around 3 weeks of age. Mutant males show exhibit sperm with a reduced acrosome reaction rate and fertilizing capacity in vitro and decreased fertility in vivo. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 CTGTAGGAAATCTTCAATGT CTGT 11: 110,210,193 (GRCm38) probably null Het
Adcy8 C T 15: 64,920,934 (GRCm38) G58S probably benign Het
Adgra2 T A 8: 27,114,204 (GRCm38) L24* probably null Het
Ampd2 C A 3: 108,085,369 (GRCm38) probably benign Het
Ankrd26 T G 6: 118,525,791 (GRCm38) E806A probably damaging Het
Apol9b A G 15: 77,735,439 (GRCm38) D145G probably benign Het
Ash1l T A 3: 88,985,419 (GRCm38) M1535K probably benign Het
Atf6 A G 1: 170,794,735 (GRCm38) M439T probably damaging Het
B3glct A T 5: 149,754,156 (GRCm38) M417L probably damaging Het
Cep192 A T 18: 67,820,360 (GRCm38) T483S probably damaging Het
Cep290 G A 10: 100,518,795 (GRCm38) E914K probably damaging Het
Chst15 C T 7: 132,270,385 (GRCm38) A56T probably damaging Het
Col27a1 A T 4: 63,225,424 (GRCm38) T450S probably benign Het
Cpsf2 A G 12: 101,985,335 (GRCm38) N177S probably damaging Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,741,236 (GRCm38) probably null Het
Ctc1 C T 11: 69,035,615 (GRCm38) A859V possibly damaging Het
Dcakd A G 11: 102,997,357 (GRCm38) Y134H possibly damaging Het
Dctn3 G T 4: 41,723,065 (GRCm38) Y22* probably null Het
Dync2h1 T A 9: 7,124,797 (GRCm38) D2025V probably damaging Het
Dync2li1 T C 17: 84,636,274 (GRCm38) S92P probably damaging Het
Eml5 A G 12: 98,887,097 (GRCm38) V81A probably damaging Het
Espl1 C T 15: 102,319,588 (GRCm38) R1625C probably damaging Het
Fam181a T C 12: 103,316,526 (GRCm38) V230A probably benign Het
Fam213b T G 4: 154,898,149 (GRCm38) Y56S probably damaging Het
Fanci T A 7: 79,395,995 (GRCm38) D28E probably benign Het
Fmn1 A G 2: 113,365,617 (GRCm38) N554S unknown Het
Frem2 T C 3: 53,537,330 (GRCm38) Y2460C probably damaging Het
Fscb G A 12: 64,473,793 (GRCm38) P300S probably damaging Het
Gm28042 A G 2: 120,036,748 (GRCm38) D438G probably benign Het
Map1b C T 13: 99,429,338 (GRCm38) V2292M unknown Het
Nbas A G 12: 13,330,646 (GRCm38) D635G possibly damaging Het
Ncapg2 A G 12: 116,450,475 (GRCm38) probably null Het
Nrp2 A T 1: 62,744,355 (GRCm38) E205V probably damaging Het
Pcdhb3 A T 18: 37,302,186 (GRCm38) T402S possibly damaging Het
Phc1 T C 6: 122,322,337 (GRCm38) N638D possibly damaging Het
Prkdc T A 16: 15,705,207 (GRCm38) D1164E probably damaging Het
Proser2 T A 2: 6,100,695 (GRCm38) R353W possibly damaging Het
Ptges T A 2: 30,892,696 (GRCm38) T115S probably benign Het
Ptprk A T 10: 28,560,142 (GRCm38) D833V probably damaging Het
Pum1 G T 4: 130,728,084 (GRCm38) L269F probably damaging Het
Pum1 T A 4: 130,728,083 (GRCm38) L173* probably null Het
Rasgrp4 A G 7: 29,139,045 (GRCm38) Y106C probably damaging Het
Rbbp6 T A 7: 122,999,474 (GRCm38) probably benign Het
Rdh1 A G 10: 127,760,172 (GRCm38) T79A possibly damaging Het
Relb A C 7: 19,613,761 (GRCm38) probably null Het
Rnf122 G A 8: 31,112,164 (GRCm38) W6* probably null Het
Rnf31 A G 14: 55,592,537 (GRCm38) E138G possibly damaging Het
Scaf8 G A 17: 3,197,210 (GRCm38) R936Q probably damaging Het
Scube3 T A 17: 28,166,134 (GRCm38) V686D possibly damaging Het
Snrnp27 A T 6: 86,676,214 (GRCm38) C141S probably benign Het
Spns2 C T 11: 72,458,671 (GRCm38) V252M possibly damaging Het
Tmem159 A G 7: 120,120,239 (GRCm38) E157G possibly damaging Het
Tomm40l C T 1: 171,220,134 (GRCm38) S220N probably damaging Het
Trim17 A G 11: 58,971,411 (GRCm38) D423G probably damaging Het
Trpc6 A AT 9: 8,610,465 (GRCm38) probably null Het
Uba5 A T 9: 104,060,243 (GRCm38) M89K probably damaging Het
Vav2 T C 2: 27,273,706 (GRCm38) D628G probably damaging Het
Vmn2r107 T C 17: 20,375,642 (GRCm38) L819P probably damaging Het
Vmn2r25 A T 6: 123,839,559 (GRCm38) D354E possibly damaging Het
Xrn1 A G 9: 96,006,820 (GRCm38) E984G possibly damaging Het
Zbtb17 T C 4: 141,464,246 (GRCm38) V223A probably benign Het
Zcchc11 G A 4: 108,503,029 (GRCm38) R481Q possibly damaging Het
Zfp592 T C 7: 81,041,438 (GRCm38) S1122P possibly damaging Het
Other mutations in Plcb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00510:Plcb1 APN 2 135,251,756 (GRCm38) missense possibly damaging 0.66
IGL01152:Plcb1 APN 2 134,813,659 (GRCm38) missense probably damaging 1.00
IGL01945:Plcb1 APN 2 135,220,791 (GRCm38) missense probably benign 0.03
IGL01999:Plcb1 APN 2 135,346,318 (GRCm38) missense probably damaging 1.00
IGL02109:Plcb1 APN 2 134,786,559 (GRCm38) missense probably damaging 1.00
IGL02153:Plcb1 APN 2 135,387,853 (GRCm38) missense probably benign 0.08
IGL02207:Plcb1 APN 2 135,387,171 (GRCm38) missense probably damaging 1.00
IGL02566:Plcb1 APN 2 135,472,263 (GRCm38) missense probably benign 0.17
IGL02590:Plcb1 APN 2 135,294,864 (GRCm38) missense probably benign 0.08
IGL02640:Plcb1 APN 2 135,220,859 (GRCm38) splice site probably benign
IGL02926:Plcb1 APN 2 135,364,762 (GRCm38) splice site probably benign
IGL03071:Plcb1 APN 2 135,387,802 (GRCm38) missense probably damaging 1.00
IGL03236:Plcb1 APN 2 135,346,306 (GRCm38) missense probably damaging 1.00
IGL03252:Plcb1 APN 2 135,370,428 (GRCm38) missense probably benign
IGL03387:Plcb1 APN 2 134,813,686 (GRCm38) splice site probably benign
BB001:Plcb1 UTSW 2 135,359,693 (GRCm38) missense probably benign 0.00
BB011:Plcb1 UTSW 2 135,359,693 (GRCm38) missense probably benign 0.00
R0024:Plcb1 UTSW 2 135,362,425 (GRCm38) missense probably benign 0.06
R0024:Plcb1 UTSW 2 135,362,425 (GRCm38) missense probably benign 0.06
R0053:Plcb1 UTSW 2 135,294,915 (GRCm38) missense probably benign 0.33
R0053:Plcb1 UTSW 2 135,294,915 (GRCm38) missense probably benign 0.33
R0308:Plcb1 UTSW 2 134,813,614 (GRCm38) missense probably benign 0.01
R0415:Plcb1 UTSW 2 135,337,499 (GRCm38) missense probably damaging 1.00
R0624:Plcb1 UTSW 2 135,294,911 (GRCm38) missense possibly damaging 0.81
R0898:Plcb1 UTSW 2 135,387,143 (GRCm38) missense possibly damaging 0.73
R1071:Plcb1 UTSW 2 135,325,657 (GRCm38) missense possibly damaging 0.64
R1615:Plcb1 UTSW 2 135,362,444 (GRCm38) splice site probably benign
R1617:Plcb1 UTSW 2 135,337,441 (GRCm38) missense probably damaging 1.00
R1785:Plcb1 UTSW 2 135,325,667 (GRCm38) nonsense probably null
R1866:Plcb1 UTSW 2 135,344,173 (GRCm38) missense probably benign 0.01
R1869:Plcb1 UTSW 2 135,311,014 (GRCm38) missense probably benign 0.02
R1902:Plcb1 UTSW 2 134,813,613 (GRCm38) missense possibly damaging 0.93
R1938:Plcb1 UTSW 2 135,386,302 (GRCm38) missense probably damaging 1.00
R2016:Plcb1 UTSW 2 135,362,420 (GRCm38) missense possibly damaging 0.94
R2017:Plcb1 UTSW 2 135,362,420 (GRCm38) missense possibly damaging 0.94
R2131:Plcb1 UTSW 2 135,325,667 (GRCm38) nonsense probably null
R2132:Plcb1 UTSW 2 135,325,667 (GRCm38) nonsense probably null
R2133:Plcb1 UTSW 2 135,325,667 (GRCm38) nonsense probably null
R2419:Plcb1 UTSW 2 135,262,100 (GRCm38) splice site probably benign
R2429:Plcb1 UTSW 2 135,337,442 (GRCm38) missense probably damaging 0.99
R2508:Plcb1 UTSW 2 135,260,508 (GRCm38) missense probably benign 0.27
R3161:Plcb1 UTSW 2 135,335,482 (GRCm38) missense probably benign 0.03
R3870:Plcb1 UTSW 2 135,325,671 (GRCm38) missense probably damaging 0.99
R4191:Plcb1 UTSW 2 135,345,090 (GRCm38) missense probably damaging 1.00
R4239:Plcb1 UTSW 2 135,344,158 (GRCm38) missense probably damaging 0.99
R4552:Plcb1 UTSW 2 135,335,493 (GRCm38) missense probably benign 0.44
R4553:Plcb1 UTSW 2 135,335,493 (GRCm38) missense probably benign 0.44
R4720:Plcb1 UTSW 2 135,251,747 (GRCm38) missense possibly damaging 0.70
R4946:Plcb1 UTSW 2 135,345,095 (GRCm38) missense probably benign 0.01
R5012:Plcb1 UTSW 2 135,333,400 (GRCm38) missense probably null 0.97
R5151:Plcb1 UTSW 2 135,262,245 (GRCm38) missense probably benign 0.28
R5320:Plcb1 UTSW 2 135,252,776 (GRCm38) missense possibly damaging 0.56
R5415:Plcb1 UTSW 2 135,347,402 (GRCm38) missense possibly damaging 0.67
R5523:Plcb1 UTSW 2 135,260,566 (GRCm38) missense probably benign 0.08
R5568:Plcb1 UTSW 2 135,370,593 (GRCm38) missense probably damaging 1.00
R5688:Plcb1 UTSW 2 135,335,480 (GRCm38) missense probably benign 0.06
R5809:Plcb1 UTSW 2 135,262,244 (GRCm38) missense possibly damaging 0.83
R6237:Plcb1 UTSW 2 135,370,566 (GRCm38) missense possibly damaging 0.94
R6315:Plcb1 UTSW 2 135,346,341 (GRCm38) missense probably benign 0.00
R6478:Plcb1 UTSW 2 135,335,451 (GRCm38) missense probably damaging 1.00
R6531:Plcb1 UTSW 2 135,325,802 (GRCm38) critical splice donor site probably null
R6683:Plcb1 UTSW 2 134,786,593 (GRCm38) missense probably benign 0.32
R6760:Plcb1 UTSW 2 135,472,060 (GRCm38) missense possibly damaging 0.50
R6947:Plcb1 UTSW 2 135,386,155 (GRCm38) missense probably benign 0.08
R6976:Plcb1 UTSW 2 135,262,239 (GRCm38) missense possibly damaging 0.75
R7379:Plcb1 UTSW 2 135,370,510 (GRCm38) missense probably benign 0.45
R7473:Plcb1 UTSW 2 135,344,276 (GRCm38) missense probably damaging 0.98
R7492:Plcb1 UTSW 2 135,251,764 (GRCm38) nonsense probably null
R7498:Plcb1 UTSW 2 135,262,234 (GRCm38) missense probably damaging 0.99
R7498:Plcb1 UTSW 2 135,262,233 (GRCm38) nonsense probably null
R7777:Plcb1 UTSW 2 135,220,757 (GRCm38) missense possibly damaging 0.51
R7924:Plcb1 UTSW 2 135,359,693 (GRCm38) missense probably benign 0.00
R8061:Plcb1 UTSW 2 135,346,396 (GRCm38) missense probably benign
R8099:Plcb1 UTSW 2 135,251,734 (GRCm38) missense possibly damaging 0.68
R8299:Plcb1 UTSW 2 135,335,476 (GRCm38) missense probably damaging 1.00
R8394:Plcb1 UTSW 2 135,317,790 (GRCm38) missense probably damaging 1.00
R8439:Plcb1 UTSW 2 135,250,052 (GRCm38) critical splice donor site probably null
R8549:Plcb1 UTSW 2 135,364,933 (GRCm38) missense probably benign 0.00
R8693:Plcb1 UTSW 2 135,252,776 (GRCm38) missense probably benign 0.00
R8750:Plcb1 UTSW 2 135,335,449 (GRCm38) missense probably damaging 1.00
R8817:Plcb1 UTSW 2 135,333,509 (GRCm38) intron probably benign
R8950:Plcb1 UTSW 2 135,337,519 (GRCm38) missense probably damaging 1.00
R9146:Plcb1 UTSW 2 135,340,695 (GRCm38) missense probably damaging 1.00
R9301:Plcb1 UTSW 2 135,325,690 (GRCm38) missense possibly damaging 0.96
R9311:Plcb1 UTSW 2 135,347,465 (GRCm38) missense probably benign 0.00
R9459:Plcb1 UTSW 2 135,322,638 (GRCm38) missense probably benign 0.03
S24628:Plcb1 UTSW 2 135,337,499 (GRCm38) missense probably damaging 1.00
X0025:Plcb1 UTSW 2 135,345,054 (GRCm38) missense possibly damaging 0.87
Z1088:Plcb1 UTSW 2 135,220,846 (GRCm38) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- AGCAGAGCCATCAGTGTTTG -3'
(R):5'- CTGGTTAGGATTCCAATGGACAC -3'

Sequencing Primer
(F):5'- AGCAGAGCCATCAGTGTTTGAATTG -3'
(R):5'- TTCCAATGGACACAGAAAGGTTC -3'
Posted On 2014-10-01