Incidental Mutation 'R9711:Clec14a'
ID 730187
Institutional Source Beutler Lab
Gene Symbol Clec14a
Ensembl Gene ENSMUSG00000045930
Gene Name C-type lectin domain family 14, member a
Synonyms 1200003C23Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R9711 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 58311506-58316044 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 58314432 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 397 (I397F)
Ref Sequence ENSEMBL: ENSMUSP00000054451 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062254]
AlphaFold Q8VCP9
Predicted Effect probably damaging
Transcript: ENSMUST00000062254
AA Change: I397F

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000054451
Gene: ENSMUSG00000045930
AA Change: I397F

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
CLECT 31 172 1.4e-5 SMART
EGF 246 288 1.85e0 SMART
transmembrane domain 388 410 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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 C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. This family member plays a role in cell-cell adhesion and angiogenesis. It functions in filopodia formation, cell migration and tube formation. Due to its presence at higher levels in tumor endothelium than in normal tissue endothelium, it is considered to be a candidate for tumor vascular targeting. [provided by RefSeq, Jan 2012]
PHENOTYPE: No notable pheontype was detected in a high-throughput screen of homozygous mutant mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 T C 8: 87,275,388 (GRCm39) D430G probably damaging Het
Adgrf1 T C 17: 43,621,580 (GRCm39) S606P possibly damaging Het
Afap1 A G 5: 36,141,540 (GRCm39) N475D probably damaging Het
Ahnak2 A G 12: 112,739,468 (GRCm39) S1535P possibly damaging Het
Akt1 G T 12: 112,624,885 (GRCm39) H194N possibly damaging Het
Api5 T A 2: 94,251,812 (GRCm39) Q396L possibly damaging Het
Aplp2 T C 9: 31,083,303 (GRCm39) N148S probably benign Het
Asb3 A G 11: 31,031,400 (GRCm39) Y340C probably damaging Het
Bbox1 A T 2: 110,098,581 (GRCm39) M332K probably damaging Het
Cabin1 A T 10: 75,579,090 (GRCm39) S449T probably benign Het
Carns1 A G 19: 4,216,007 (GRCm39) V725A possibly damaging Het
Cdkn1b A G 6: 134,898,058 (GRCm39) K59R possibly damaging Het
Cdv3 A T 9: 103,233,539 (GRCm39) I212K probably damaging Het
Cnnm1 A G 19: 43,483,469 (GRCm39) I950V possibly damaging Het
Ddi2 A G 4: 141,422,734 (GRCm39) M326T probably benign Het
Dhx30 T C 9: 109,914,103 (GRCm39) T1065A probably benign Het
Eif3c A T 7: 126,146,674 (GRCm39) M808K possibly damaging Het
Evi2 G T 11: 79,406,971 (GRCm39) H201Q possibly damaging Het
Exoc4 A G 6: 33,452,991 (GRCm39) T494A unknown Het
Fam83f T A 15: 80,574,819 (GRCm39) M242K probably damaging Het
Fat4 T C 3: 39,055,374 (GRCm39) Y4198H probably benign Het
Fcgbp C A 7: 27,793,000 (GRCm39) N1001K probably benign Het
Gda G T 19: 21,400,449 (GRCm39) A164E probably damaging Het
Gm19410 T C 8: 36,279,493 (GRCm39) V1786A possibly damaging Het
Gm45871 A G 18: 90,609,069 (GRCm39) N82S probably benign Het
Gnas T A 2: 174,141,392 (GRCm39) S580T unknown Het
Gprin1 G A 13: 54,886,714 (GRCm39) P520L probably benign Het
Gramd4 C T 15: 86,014,751 (GRCm39) R433C probably damaging Het
Ighv5-12 T A 12: 113,665,958 (GRCm39) T47S probably benign Het
Itprid1 T G 6: 55,864,018 (GRCm39) S115A probably damaging Het
Kdm5a T A 6: 120,367,658 (GRCm39) L451Q probably damaging Het
Kif12 T A 4: 63,084,126 (GRCm39) R624S probably benign Het
Lepr T A 4: 101,592,851 (GRCm39) Y155* probably null Het
Lnx2 T A 5: 146,961,376 (GRCm39) I519F probably damaging Het
Marchf7 T A 2: 60,060,175 (GRCm39) S101T probably damaging Het
Miox A G 15: 89,220,785 (GRCm39) D230G probably damaging Het
Morc2a T A 11: 3,600,381 (GRCm39) M1K probably null Het
Mtus1 T C 8: 41,536,222 (GRCm39) N498S probably damaging Het
Mxd1 T A 6: 86,645,554 (GRCm39) R46W probably damaging Het
Ndufa11 G C 17: 57,024,843 (GRCm39) A2P possibly damaging Het
Necab2 C T 8: 120,198,513 (GRCm39) H362Y probably damaging Het
Nphp4 G A 4: 152,623,434 (GRCm39) V703I possibly damaging Het
Nup54 T C 5: 92,582,218 (GRCm39) N31S unknown Het
Or13a23-ps1 T A 7: 140,118,497 (GRCm39) S22R probably benign Het
Or1ad6 T C 11: 50,860,316 (GRCm39) L157P probably damaging Het
Or1e34 A T 11: 73,778,696 (GRCm39) C167* probably null Het
Or8b4 A C 9: 37,830,066 (GRCm39) T38P probably damaging Het
P2rx2 T C 5: 110,490,388 (GRCm39) E109G possibly damaging Het
Pcdha7 T C 18: 37,107,409 (GRCm39) S145P probably damaging Het
Pdlim5 A T 3: 141,948,529 (GRCm39) V586E probably damaging Het
Pex5l T C 3: 33,136,204 (GRCm39) E5G probably benign Het
Plch1 T A 3: 63,615,176 (GRCm39) D774V probably damaging Het
Plekhg3 A T 12: 76,611,726 (GRCm39) D335V possibly damaging Het
Pop1 A G 15: 34,530,227 (GRCm39) H905R probably benign Het
Ppm1k T C 6: 57,492,720 (GRCm39) T189A probably damaging Het
Pramel13 A G 4: 144,122,517 (GRCm39) L9P probably damaging Het
Recql5 A G 11: 115,784,367 (GRCm39) V911A probably damaging Het
Rnf145 T A 11: 44,415,830 (GRCm39) L15* probably null Het
Rpl13a A G 7: 44,776,673 (GRCm39) V29A probably benign Het
Rps6ka5 A G 12: 100,540,250 (GRCm39) V491A probably benign Het
Setbp1 T C 18: 78,900,142 (GRCm39) H1175R probably benign Het
Setd5 T C 6: 113,093,063 (GRCm39) S372P probably damaging Het
Slc1a3 T C 15: 8,675,177 (GRCm39) E276G probably damaging Het
Slc36a2 T C 11: 55,070,169 (GRCm39) N136S probably benign Het
Spag1 G A 15: 36,190,683 (GRCm39) probably null Het
Spon1 A C 7: 113,387,685 (GRCm39) T81P probably damaging Het
Sv2b A T 7: 74,856,238 (GRCm39) D17E probably benign Het
Tasor2 A G 13: 3,649,667 (GRCm39) V44A probably benign Het
Tax1bp1 C T 6: 52,704,215 (GRCm39) T65I probably damaging Het
Tenm2 C A 11: 35,915,341 (GRCm39) K2065N probably damaging Het
Ticam2 T C 18: 46,693,658 (GRCm39) D143G probably damaging Het
Tmem132d T C 5: 127,869,579 (GRCm39) E585G possibly damaging Het
Tnfrsf8 C T 4: 145,019,668 (GRCm39) probably null Het
Trim44 C T 2: 102,230,813 (GRCm39) G73R unknown Het
Trpc3 C T 3: 36,692,713 (GRCm39) D760N possibly damaging Het
Tspan9 T A 6: 127,942,715 (GRCm39) M171L probably benign Het
Ugt2b37 A G 5: 87,402,532 (GRCm39) F33S possibly damaging Het
Vav2 A T 2: 27,159,027 (GRCm39) V734E probably damaging Het
Vmn1r214 A G 13: 23,218,508 (GRCm39) M1V probably null Het
Vmn1r24 A T 6: 57,932,804 (GRCm39) V238E probably damaging Het
Vmn2r107 A G 17: 20,577,262 (GRCm39) Q420R probably damaging Het
Vmn2r31 G A 7: 7,387,085 (GRCm39) P829S probably damaging Het
Xpo6 A G 7: 125,712,873 (GRCm39) F703L probably benign Het
Zfp442 T A 2: 150,250,207 (GRCm39) H565L possibly damaging Het
Zfp950 A T 19: 61,116,000 (GRCm39) D2E probably damaging Het
Zfp992 T A 4: 146,551,345 (GRCm39) S355R probably damaging Het
Zwilch A T 9: 64,063,303 (GRCm39) F309Y probably damaging Het
Other mutations in Clec14a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01933:Clec14a APN 12 58,315,104 (GRCm39) missense probably damaging 1.00
IGL02109:Clec14a APN 12 58,314,934 (GRCm39) missense probably benign 0.00
IGL02121:Clec14a APN 12 58,315,223 (GRCm39) missense probably damaging 1.00
IGL02136:Clec14a APN 12 58,315,415 (GRCm39) missense probably damaging 1.00
IGL02818:Clec14a APN 12 58,314,888 (GRCm39) missense probably damaging 1.00
R0379:Clec14a UTSW 12 58,315,580 (GRCm39) missense possibly damaging 0.90
R0382:Clec14a UTSW 12 58,315,403 (GRCm39) missense probably damaging 1.00
R0419:Clec14a UTSW 12 58,314,451 (GRCm39) missense probably damaging 0.97
R2972:Clec14a UTSW 12 58,314,360 (GRCm39) missense probably damaging 1.00
R3796:Clec14a UTSW 12 58,314,695 (GRCm39) missense probably benign 0.34
R3797:Clec14a UTSW 12 58,314,695 (GRCm39) missense probably benign 0.34
R3876:Clec14a UTSW 12 58,315,430 (GRCm39) missense possibly damaging 0.79
R4602:Clec14a UTSW 12 58,314,767 (GRCm39) missense probably benign 0.03
R4708:Clec14a UTSW 12 58,314,489 (GRCm39) missense probably benign 0.00
R4994:Clec14a UTSW 12 58,315,070 (GRCm39) missense probably damaging 1.00
R5193:Clec14a UTSW 12 58,315,400 (GRCm39) missense probably damaging 1.00
R5489:Clec14a UTSW 12 58,315,035 (GRCm39) missense probably damaging 1.00
R5671:Clec14a UTSW 12 58,314,612 (GRCm39) missense probably benign 0.05
R6318:Clec14a UTSW 12 58,315,001 (GRCm39) missense probably damaging 1.00
R6388:Clec14a UTSW 12 58,314,243 (GRCm39) makesense probably null
R6828:Clec14a UTSW 12 58,315,290 (GRCm39) missense probably damaging 1.00
R7065:Clec14a UTSW 12 58,315,580 (GRCm39) missense possibly damaging 0.90
R7418:Clec14a UTSW 12 58,315,433 (GRCm39) missense probably damaging 0.99
R7635:Clec14a UTSW 12 58,315,314 (GRCm39) missense probably damaging 1.00
R7666:Clec14a UTSW 12 58,314,543 (GRCm39) missense probably benign 0.05
R7908:Clec14a UTSW 12 58,314,465 (GRCm39) missense possibly damaging 0.63
R8844:Clec14a UTSW 12 58,315,599 (GRCm39) missense possibly damaging 0.59
R9294:Clec14a UTSW 12 58,315,536 (GRCm39) missense probably damaging 1.00
R9477:Clec14a UTSW 12 58,314,620 (GRCm39) missense probably benign 0.01
X0024:Clec14a UTSW 12 58,315,112 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTAAGTGTCCCGATCCAAG -3'
(R):5'- GGGGAACACAGAGTACTTTACC -3'

Sequencing Primer
(F):5'- GTGAAGAACCTAAGCTCAGTCCTTC -3'
(R):5'- CTTTACCTACTATTCAAAAGACCCC -3'
Posted On 2022-10-06