Incidental Mutation 'IGL02135:Lcp1'
ID 281305
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lcp1
Ensembl Gene ENSMUSG00000021998
Gene Name lymphocyte cytosolic protein 1
Synonyms D14Ertd310e, L-fimbrin, Pls2, L-plastin
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02135
Quality Score
Status
Chromosome 14
Chromosomal Location 75131101-75230842 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75200486 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 112 (V112A)
Ref Sequence ENSEMBL: ENSMUSP00000121376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000122840] [ENSMUST00000124499] [ENSMUST00000125833] [ENSMUST00000131802] [ENSMUST00000134114] [ENSMUST00000143539] [ENSMUST00000145303]
AlphaFold Q61233
Predicted Effect probably benign
Transcript: ENSMUST00000122840
SMART Domains Protein: ENSMUSP00000117984
Gene: ENSMUSG00000021998

DomainStartEndE-ValueType
EFh 13 41 6.91e-5 SMART
EFh 53 81 7.7e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124499
AA Change: V112A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000121201
Gene: ENSMUSG00000021998
AA Change: V112A

DomainStartEndE-ValueType
EFh 13 41 6.91e-5 SMART
EFh 53 81 7.7e-3 SMART
CH 122 234 1.15e-24 SMART
CH 266 373 1.51e-19 SMART
CH 396 501 1.87e-24 SMART
CH 517 622 8.55e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125833
SMART Domains Protein: ENSMUSP00000116033
Gene: ENSMUSG00000021998

DomainStartEndE-ValueType
EFh 13 41 6.91e-5 SMART
EFh 53 81 7.7e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130510
Predicted Effect probably benign
Transcript: ENSMUST00000131802
AA Change: V112A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000117137
Gene: ENSMUSG00000021998
AA Change: V112A

DomainStartEndE-ValueType
EFh 13 41 6.91e-5 SMART
EFh 53 81 7.7e-3 SMART
CH 122 234 1.15e-24 SMART
CH 266 373 1.51e-19 SMART
CH 396 501 1.87e-24 SMART
CH 517 622 8.55e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000134114
AA Change: V112A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000121376
Gene: ENSMUSG00000021998
AA Change: V112A

DomainStartEndE-ValueType
EFh 13 41 6.91e-5 SMART
EFh 53 81 7.7e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000143539
SMART Domains Protein: ENSMUSP00000118721
Gene: ENSMUSG00000021998

DomainStartEndE-ValueType
EFh 13 41 6.91e-5 SMART
EFh 53 76 4.45e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000145303
AA Change: V112A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000116271
Gene: ENSMUSG00000021998
AA Change: V112A

DomainStartEndE-ValueType
EFh 13 41 6.91e-5 SMART
EFh 53 81 7.7e-3 SMART
CH 122 234 1.15e-24 SMART
CH 266 373 1.51e-19 SMART
CH 396 501 1.87e-24 SMART
CH 517 622 8.55e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149883
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161819
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. Plastin 1 (otherwise known as Fimbrin) is a third distinct plastin isoform which is specifically expressed at high levels in the small intestine. The L isoform is expressed only in hemopoietic cell lineages, while the T isoform has been found in all other normal cells of solid tissues that have replicative potential (fibroblasts, endothelial cells, epithelial cells, melanocytes, etc.). However, L-plastin has been found in many types of malignant human cells of non-hemopoietic origin suggesting that its expression is induced accompanying tumorigenesis in solid tissues. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to S. aureus infection, defective neutrophil killing of S. aureus, and impaired adhesion-dependent respiratory bursts in neutrophils. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3632451O06Rik T C 14: 49,773,929 K107R probably damaging Het
4930407I10Rik A G 15: 82,065,004 H1034R possibly damaging Het
App A G 16: 85,079,838 probably null Het
Arhgap23 G T 11: 97,451,702 R270L probably damaging Het
Arhgap36 T C X: 49,497,189 I342T possibly damaging Het
Arhgef12 A T 9: 42,972,165 M1356K possibly damaging Het
Asap3 A C 4: 136,241,153 probably null Het
Atl2 A G 17: 79,859,785 probably null Het
Cdh7 T A 1: 110,138,274 Y759* probably null Het
Celsr3 A G 9: 108,827,556 T413A probably benign Het
Cep97 A T 16: 55,922,967 I102K probably damaging Het
Ces2a T C 8: 104,740,181 S441P probably benign Het
Cops2 T C 2: 125,832,243 T435A probably benign Het
Ctc1 A G 11: 69,021,163 N56S probably benign Het
Dennd2a G A 6: 39,480,271 R746* probably null Het
Dnah5 T A 15: 28,247,885 C723S possibly damaging Het
Dnah7a A C 1: 53,623,473 V643G probably benign Het
Dnah9 A T 11: 66,117,492 S836T possibly damaging Het
Doxl2 G A 6: 48,975,564 R141Q probably benign Het
Edc4 T A 8: 105,885,822 V164D probably damaging Het
Gcfc2 A T 6: 81,941,400 D357V probably damaging Het
Grem1 T C 2: 113,749,787 N123S probably damaging Het
Gria1 T C 11: 57,185,853 V94A probably damaging Het
Hipk2 G A 6: 38,818,999 H112Y possibly damaging Het
Il7r T C 15: 9,508,006 N410S probably benign Het
Insr A T 8: 3,258,741 S98R probably damaging Het
Klhl7 T A 5: 24,141,281 Y308* probably null Het
Map2 A T 1: 66,380,761 R84* probably null Het
Mgst1 A T 6: 138,147,768 M27L probably damaging Het
Mroh7 A G 4: 106,702,510 L740P probably damaging Het
Mybpc3 T C 2: 91,124,826 F507L possibly damaging Het
Nqo2 A T 13: 33,985,343 K183* probably null Het
Nt5c1b T C 12: 10,377,194 Y315H probably damaging Het
Odc1 T A 12: 17,547,673 I48N probably damaging Het
Olfr1353 T A 10: 78,970,106 S152R probably damaging Het
Olfr444 A G 6: 42,955,651 D51G probably damaging Het
Osbpl5 T A 7: 143,705,125 D236V probably damaging Het
Prkg1 A G 19: 30,993,076 Y212H probably benign Het
Pttg1ip T C 10: 77,589,744 probably null Het
Serpina1f T A 12: 103,693,715 T103S possibly damaging Het
Skp2 T C 15: 9,125,147 D115G probably benign Het
Slc25a30 C T 14: 75,766,995 V221I probably benign Het
Slc7a3 A C X: 101,079,492 D609E probably benign Het
Strc C T 2: 121,364,834 G1656D probably damaging Het
Tbc1d8 A G 1: 39,402,810 F234L probably damaging Het
Tgm7 T G 2: 121,099,038 I252L possibly damaging Het
Tlr5 A G 1: 182,973,254 D41G possibly damaging Het
Tns2 T C 15: 102,113,026 L1034P probably damaging Het
Trim15 A G 17: 36,867,064 V13A probably benign Het
Uros C T 7: 133,687,005 V258M possibly damaging Het
Wdr75 G A 1: 45,817,448 probably null Het
Wdr75 A G 1: 45,814,563 Y378C probably damaging Het
Wdr82 G T 9: 106,171,244 R9L possibly damaging Het
Ybx3 G A 6: 131,380,929 R125C probably damaging Het
Zc3h12b A G X: 95,899,264 T49A probably benign Het
Zfyve27 G A 19: 42,184,136 V279M probably damaging Het
Other mutations in Lcp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01103:Lcp1 APN 14 75227093 critical splice donor site probably null
IGL01768:Lcp1 APN 14 75224133 missense probably benign 0.40
IGL01801:Lcp1 APN 14 75199375 missense probably benign 0.10
IGL01940:Lcp1 APN 14 75216365 missense probably benign 0.17
IGL02185:Lcp1 APN 14 75229300 missense possibly damaging 0.73
IGL02478:Lcp1 APN 14 75224096 missense probably benign 0.04
IGL02604:Lcp1 APN 14 75224126 missense probably benign 0.11
R0244:Lcp1 UTSW 14 75227001 missense possibly damaging 0.92
R0295:Lcp1 UTSW 14 75199420 missense probably null 0.59
R0313:Lcp1 UTSW 14 75199433 missense probably damaging 1.00
R0415:Lcp1 UTSW 14 75227006 missense possibly damaging 0.88
R0751:Lcp1 UTSW 14 75199387 missense probably benign 0.00
R0811:Lcp1 UTSW 14 75214488 missense probably benign 0.00
R0812:Lcp1 UTSW 14 75214488 missense probably benign 0.00
R1200:Lcp1 UTSW 14 75229302 missense possibly damaging 0.73
R1713:Lcp1 UTSW 14 75199444 critical splice donor site probably null
R1915:Lcp1 UTSW 14 75199297 missense possibly damaging 0.81
R1969:Lcp1 UTSW 14 75200506 missense probably damaging 1.00
R1970:Lcp1 UTSW 14 75200506 missense probably damaging 1.00
R1971:Lcp1 UTSW 14 75200506 missense probably damaging 1.00
R2045:Lcp1 UTSW 14 75200401 missense probably benign 0.01
R2064:Lcp1 UTSW 14 75198075 critical splice acceptor site probably null
R3949:Lcp1 UTSW 14 75206129 missense possibly damaging 0.68
R4062:Lcp1 UTSW 14 75215180 missense probably damaging 1.00
R4521:Lcp1 UTSW 14 75215168 missense possibly damaging 0.94
R4811:Lcp1 UTSW 14 75200408 missense probably damaging 0.99
R4854:Lcp1 UTSW 14 75200489 missense probably damaging 1.00
R4974:Lcp1 UTSW 14 75208471 nonsense probably null
R5539:Lcp1 UTSW 14 75229298 missense probably benign 0.08
R5561:Lcp1 UTSW 14 75212508 missense probably benign 0.01
R5724:Lcp1 UTSW 14 75226982 missense probably benign 0.18
R5989:Lcp1 UTSW 14 75199387 missense probably benign 0.00
R6731:Lcp1 UTSW 14 75206189 missense probably damaging 1.00
R7346:Lcp1 UTSW 14 75210506 missense possibly damaging 0.49
R7670:Lcp1 UTSW 14 75200431 missense probably benign 0.12
R7698:Lcp1 UTSW 14 75206211 nonsense probably null
R9780:Lcp1 UTSW 14 75202738 missense probably damaging 1.00
S24628:Lcp1 UTSW 14 75227006 missense possibly damaging 0.88
X0027:Lcp1 UTSW 14 75227086 missense probably damaging 1.00
Posted On 2015-04-16