Incidental Mutation 'R7344:Plcd4'
ID 570066
Institutional Source Beutler Lab
Gene Symbol Plcd4
Ensembl Gene ENSMUSG00000026173
Gene Name phospholipase C, delta 4
Synonyms 4921507K24Rik
MMRRC Submission 045434-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7344 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 74581175-74605137 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 74593811 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 312 (D312V)
Ref Sequence ENSEMBL: ENSMUSP00000027362 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027362] [ENSMUST00000067916] [ENSMUST00000113747] [ENSMUST00000113749] [ENSMUST00000113750] [ENSMUST00000141412] [ENSMUST00000152707]
AlphaFold Q8K3R3
Predicted Effect probably damaging
Transcript: ENSMUST00000027362
AA Change: D312V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027362
Gene: ENSMUSG00000026173
AA Change: D312V

DomainStartEndE-ValueType
PH 17 126 2.6e-12 SMART
EFh 138 166 9.97e-1 SMART
EFh 174 202 1.83e1 SMART
EFh 207 234 4.45e1 SMART
PLCXc 290 435 2.03e-79 SMART
low complexity region 441 459 N/A INTRINSIC
PLCYc 538 654 1.26e-75 SMART
C2 673 779 5.68e-20 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000067916
AA Change: D312V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000064413
Gene: ENSMUSG00000026173
AA Change: D312V

DomainStartEndE-ValueType
PH 17 126 2.6e-12 SMART
EFh 138 166 9.97e-1 SMART
EFh 174 202 1.83e1 SMART
EFh 207 234 4.45e1 SMART
PLCXc 290 435 2.03e-79 SMART
low complexity region 441 459 N/A INTRINSIC
PLCYc 506 622 1.26e-75 SMART
C2 641 747 5.68e-20 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113747
AA Change: D312V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109376
Gene: ENSMUSG00000026173
AA Change: D312V

DomainStartEndE-ValueType
PH 17 126 2.6e-12 SMART
EFh 138 166 9.97e-1 SMART
EFh 174 202 1.83e1 SMART
EFh 207 234 4.45e1 SMART
PLCXc 290 435 2.03e-79 SMART
low complexity region 441 459 N/A INTRINSIC
PLCYc 506 622 1.26e-75 SMART
C2 641 747 5.68e-20 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113749
AA Change: D312V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109378
Gene: ENSMUSG00000026173
AA Change: D312V

DomainStartEndE-ValueType
PH 17 126 2.6e-12 SMART
EFh 138 166 9.97e-1 SMART
EFh 174 202 1.83e1 SMART
EFh 207 234 4.45e1 SMART
PLCXc 290 435 2.03e-79 SMART
low complexity region 441 459 N/A INTRINSIC
PLCYc 538 654 1.26e-75 SMART
C2 673 779 5.68e-20 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113750
AA Change: D312V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000109379
Gene: ENSMUSG00000026173
AA Change: D312V

DomainStartEndE-ValueType
PH 17 126 2.6e-12 SMART
EFh 138 166 9.97e-1 SMART
EFh 174 202 1.83e1 SMART
EFh 207 234 4.45e1 SMART
PLCXc 290 435 2.03e-79 SMART
low complexity region 441 459 N/A INTRINSIC
PLCYc 506 622 1.26e-75 SMART
C2 641 747 7.16e-17 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000141412
AA Change: D312V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115322
Gene: ENSMUSG00000026173
AA Change: D312V

DomainStartEndE-ValueType
PH 17 126 2.6e-12 SMART
EFh 138 166 9.97e-1 SMART
EFh 174 202 1.83e1 SMART
EFh 207 234 4.45e1 SMART
PLCXc 290 435 2.03e-79 SMART
low complexity region 441 459 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000152707
AA Change: D312V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121732
Gene: ENSMUSG00000026173
AA Change: D312V

DomainStartEndE-ValueType
PH 17 126 2.6e-12 SMART
EFh 138 166 9.97e-1 SMART
EFh 174 202 1.83e1 SMART
EFh 207 234 4.45e1 SMART
PLCXc 290 435 2.03e-79 SMART
low complexity region 441 459 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (58/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the delta class of phospholipase C enzymes. Phospholipase C enzymes play a critical role in many cellular processes by hydrolyzing phosphatidylinositol 4,5-bisphosphate into two intracellular second messengers, inositol 1,4,5-trisphosphate and diacylglycerol. Expression of this gene may be a marker for cancer. [provided by RefSeq, Jan 2011]
PHENOTYPE: Males homozygous for a targeted null mutation are subfertile or sterile. Sperm from mutant males fail to initiate the acrosome reaction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik A C 11: 58,182,273 (GRCm39) Y216S Het
Anpep G T 7: 79,488,398 (GRCm39) S477R possibly damaging Het
Atp7b T C 8: 22,487,515 (GRCm39) D1293G probably damaging Het
Caprin2 A G 6: 148,774,565 (GRCm39) V249A probably benign Het
Cep41 C T 6: 30,693,655 (GRCm39) R5K probably benign Het
Cyp2c23 A T 19: 44,010,176 (GRCm39) probably null Het
Dazap2 T A 15: 100,514,824 (GRCm39) V15E possibly damaging Het
Ecpas A T 4: 58,824,770 (GRCm39) D1070E probably benign Het
Epha8 T A 4: 136,661,849 (GRCm39) H582L probably benign Het
Fam193a A G 5: 34,643,074 (GRCm39) T1513A possibly damaging Het
Fancd2 T C 6: 113,545,670 (GRCm39) V901A probably benign Het
Fbl T A 7: 27,878,360 (GRCm39) V284E probably damaging Het
Fbln2 A G 6: 91,246,955 (GRCm39) E1065G probably damaging Het
Fbxw16 A G 9: 109,278,103 (GRCm39) V25A probably benign Het
Fcgbpl1 C T 7: 27,852,185 (GRCm39) T1236I possibly damaging Het
Fcgbpl1 T C 7: 27,839,704 (GRCm39) S506P possibly damaging Het
Gm11562 T G 11: 99,511,195 (GRCm39) T2P unknown Het
Gm17728 G T 17: 9,640,955 (GRCm39) G22W probably damaging Het
Gm30083 A G 14: 33,721,537 (GRCm39) Y190H probably benign Het
Gm6793 T A 8: 112,741,561 (GRCm39) D27V probably damaging Het
Gm7324 A G 14: 43,952,134 (GRCm39) D259G probably benign Het
Gtf2a1l G A 17: 89,001,531 (GRCm39) G129D probably damaging Het
Ildr2 T A 1: 166,122,166 (GRCm39) V203E probably damaging Het
Ipo4 C T 14: 55,872,988 (GRCm39) R23Q probably benign Het
Irx5 A G 8: 93,086,183 (GRCm39) T89A probably benign Het
Itga7 A G 10: 128,776,798 (GRCm39) N221S possibly damaging Het
Lpcat2 T C 8: 93,602,195 (GRCm39) W259R probably damaging Het
Lrrc8e C T 8: 4,284,815 (GRCm39) R347C probably damaging Het
Lyst T A 13: 13,881,140 (GRCm39) D2790E probably benign Het
Magi2 G A 5: 20,755,238 (GRCm39) R604Q probably benign Het
Mertk C A 2: 128,613,417 (GRCm39) H478N probably benign Het
Mical3 T A 6: 121,013,505 (GRCm39) K293* probably null Het
Nod2 T C 8: 89,387,210 (GRCm39) L168P probably damaging Het
Npnt T C 3: 132,614,100 (GRCm39) probably null Het
Or1x6 T G 11: 50,939,122 (GRCm39) F63V probably damaging Het
Or5af1 A T 11: 58,722,308 (GRCm39) E109D probably damaging Het
Or8b37 T C 9: 37,959,253 (GRCm39) M245T probably benign Het
Or9g4 A T 2: 85,505,275 (GRCm39) Y73* probably null Het
Prss58 A G 6: 40,872,399 (GRCm39) I208T probably damaging Het
Pus7l A G 15: 94,438,498 (GRCm39) S116P probably benign Het
Rcc1l A T 5: 134,205,276 (GRCm39) I93N probably benign Het
Rftn2 A C 1: 55,265,311 (GRCm39) Y36* probably null Het
Rp1l1 G A 14: 64,267,069 (GRCm39) R885Q probably benign Het
Rpgrip1 A T 14: 52,378,116 (GRCm39) D488V probably damaging Het
Sacs A G 14: 61,444,893 (GRCm39) Y2313C possibly damaging Het
Scrib T C 15: 75,921,107 (GRCm39) Y1332C probably damaging Het
Serpinb10 T C 1: 107,468,672 (GRCm39) V105A probably damaging Het
Slc35d1 A T 4: 103,070,243 (GRCm39) probably null Het
Slfn3 T C 11: 83,103,648 (GRCm39) V173A probably benign Het
Smpd3 C T 8: 106,991,825 (GRCm39) V243M probably damaging Het
Stard9 A T 2: 120,535,167 (GRCm39) D3808V possibly damaging Het
Supt16 A T 14: 52,411,028 (GRCm39) V692D probably damaging Het
Tapt1 A T 5: 44,345,999 (GRCm39) V317E probably damaging Het
Vmn2r101 T C 17: 19,832,059 (GRCm39) I685T probably benign Het
Vmn2r92 A G 17: 18,387,513 (GRCm39) I173V probably benign Het
Vps54 T C 11: 21,224,999 (GRCm39) I165T probably damaging Het
Zswim4 G A 8: 84,950,327 (GRCm39) R628* probably null Het
Zzz3 T C 3: 152,157,736 (GRCm39) S770P probably damaging Het
Other mutations in Plcd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00489:Plcd4 APN 1 74,591,274 (GRCm39) missense probably damaging 1.00
IGL01806:Plcd4 APN 1 74,591,192 (GRCm39) missense probably benign 0.42
IGL02537:Plcd4 APN 1 74,595,209 (GRCm39) missense possibly damaging 0.55
IGL02574:Plcd4 APN 1 74,603,539 (GRCm39) missense probably damaging 1.00
IGL02812:Plcd4 APN 1 74,596,967 (GRCm39) missense probably damaging 1.00
IGL03350:Plcd4 APN 1 74,588,460 (GRCm39) missense probably damaging 1.00
R0415:Plcd4 UTSW 1 74,591,256 (GRCm39) missense probably damaging 0.99
R1699:Plcd4 UTSW 1 74,587,394 (GRCm39) missense probably benign 0.01
R1852:Plcd4 UTSW 1 74,588,520 (GRCm39) missense possibly damaging 0.92
R2120:Plcd4 UTSW 1 74,603,584 (GRCm39) missense probably benign 0.00
R2125:Plcd4 UTSW 1 74,604,311 (GRCm39) missense probably damaging 1.00
R3023:Plcd4 UTSW 1 74,587,351 (GRCm39) missense probably damaging 1.00
R3157:Plcd4 UTSW 1 74,590,313 (GRCm39) splice site probably null
R4535:Plcd4 UTSW 1 74,602,627 (GRCm39) missense probably damaging 1.00
R4581:Plcd4 UTSW 1 74,587,383 (GRCm39) missense probably damaging 1.00
R4863:Plcd4 UTSW 1 74,604,961 (GRCm39) splice site probably null
R4911:Plcd4 UTSW 1 74,603,572 (GRCm39) missense possibly damaging 0.78
R4987:Plcd4 UTSW 1 74,587,118 (GRCm39) unclassified probably benign
R5102:Plcd4 UTSW 1 74,604,313 (GRCm39) missense probably damaging 1.00
R5752:Plcd4 UTSW 1 74,587,131 (GRCm39) splice site probably null
R5887:Plcd4 UTSW 1 74,590,249 (GRCm39) missense probably damaging 1.00
R6318:Plcd4 UTSW 1 74,602,753 (GRCm39) missense possibly damaging 0.61
R6648:Plcd4 UTSW 1 74,591,172 (GRCm39) missense probably benign 0.00
R6796:Plcd4 UTSW 1 74,601,229 (GRCm39) missense probably benign 0.03
R6920:Plcd4 UTSW 1 74,604,994 (GRCm39) unclassified probably benign
R7047:Plcd4 UTSW 1 74,591,148 (GRCm39) missense possibly damaging 0.87
R7121:Plcd4 UTSW 1 74,604,524 (GRCm39) missense probably benign
R7134:Plcd4 UTSW 1 74,593,662 (GRCm39) missense probably benign 0.05
R7270:Plcd4 UTSW 1 74,593,838 (GRCm39) missense possibly damaging 0.89
R7363:Plcd4 UTSW 1 74,590,231 (GRCm39) missense probably null 0.99
R7749:Plcd4 UTSW 1 74,604,292 (GRCm39) missense possibly damaging 0.60
R7980:Plcd4 UTSW 1 74,604,464 (GRCm39) missense probably benign 0.00
R8240:Plcd4 UTSW 1 74,593,660 (GRCm39) missense probably benign 0.38
R8762:Plcd4 UTSW 1 74,591,213 (GRCm39) missense possibly damaging 0.71
R9000:Plcd4 UTSW 1 74,601,024 (GRCm39) nonsense probably null
R9114:Plcd4 UTSW 1 74,591,307 (GRCm39) missense possibly damaging 0.60
R9162:Plcd4 UTSW 1 74,601,362 (GRCm39) missense probably benign 0.00
R9252:Plcd4 UTSW 1 74,588,359 (GRCm39) missense probably damaging 0.97
R9579:Plcd4 UTSW 1 74,596,948 (GRCm39) missense probably benign 0.00
Z1176:Plcd4 UTSW 1 74,596,951 (GRCm39) missense probably damaging 1.00
Z1176:Plcd4 UTSW 1 74,587,285 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- CATAGGCCGATTGCTGCATG -3'
(R):5'- GTGACAGAGAGGATTCCATTTATCC -3'

Sequencing Primer
(F):5'- GCTGCATGTGCTGAGCAAG -3'
(R):5'- GCTAATGCCTAAGATGGTCTCCAAG -3'
Posted On 2019-09-13