Incidental Mutation 'R6797:Cd93'
ID 533041
Institutional Source Beutler Lab
Gene Symbol Cd93
Ensembl Gene ENSMUSG00000027435
Gene Name CD93 antigen
Synonyms C1qrp, Ly68, 6030404G09Rik, AA4.1, C1qr1
MMRRC Submission 044910-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R6797 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 148278571-148285455 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 148284044 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 434 (N434S)
Ref Sequence ENSEMBL: ENSMUSP00000096876 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099269]
AlphaFold O89103
Predicted Effect probably benign
Transcript: ENSMUST00000099269
AA Change: N434S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000096876
Gene: ENSMUSG00000027435
AA Change: N434S

DomainStartEndE-ValueType
CLECT 23 180 5.04e-7 SMART
EGF 260 298 2.56e-3 SMART
EGF 302 341 3.73e-5 SMART
EGF_CA 342 381 1.33e-10 SMART
EGF_CA 382 423 4.38e-11 SMART
EGF_CA 424 465 1.33e-10 SMART
low complexity region 488 501 N/A INTRINSIC
transmembrane domain 576 598 N/A INTRINSIC
low complexity region 604 612 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 96.8%
Validation Efficiency 100% (42/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cell-surface glycoprotein and type I membrane protein that was originally identified as a myeloid cell-specific marker. The encoded protein was once thought to be a receptor for C1q, but now is thought to instead be involved in intercellular adhesion and in the clearance of apoptotic cells. The intracellular cytoplasmic tail of this protein has been found to interact with moesin, a protein known to play a role in linking transmembrane proteins to the cytoskeleton and in the remodelling of the cytoskeleton. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants have a defect in clearance of apoptotic cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c18 T A 13: 4,195,276 (GRCm39) I61L probably benign Het
Angptl2 T C 2: 33,118,277 (GRCm39) V17A probably benign Het
Casp14 T C 10: 78,550,975 (GRCm39) D70G possibly damaging Het
Cckbr A G 7: 105,083,773 (GRCm39) M234V possibly damaging Het
Cenpe A T 3: 134,943,899 (GRCm39) Q938L possibly damaging Het
Col6a3 A C 1: 90,731,810 (GRCm39) V1481G probably damaging Het
Dnah5 G T 15: 28,233,384 (GRCm39) E248* probably null Het
Dnah5 G A 15: 28,451,609 (GRCm39) R4349Q probably damaging Het
F11 A G 8: 45,706,092 (GRCm39) Y98H probably benign Het
Fen1 A G 19: 10,178,067 (GRCm39) F126L probably benign Het
Gpr146 G A 5: 139,378,795 (GRCm39) G199D possibly damaging Het
Gramd1b A G 9: 40,219,702 (GRCm39) I324T probably benign Het
H2bc12 A T 13: 22,220,259 (GRCm39) N68I probably benign Het
Hivep1 C A 13: 42,310,557 (GRCm39) S932R probably benign Het
Hk3 A T 13: 55,158,644 (GRCm39) probably null Het
Hspbp1 T A 7: 4,663,781 (GRCm39) M355L possibly damaging Het
Jaml T C 9: 45,000,058 (GRCm39) C77R probably damaging Het
Kmt2e A G 5: 23,687,505 (GRCm39) N452D possibly damaging Het
Krt5 T C 15: 101,621,076 (GRCm39) Y57C unknown Het
Lipn A T 19: 34,058,160 (GRCm39) M294L probably benign Het
Magel2 A G 7: 62,029,907 (GRCm39) E937G unknown Het
Med13l G A 5: 118,897,329 (GRCm39) probably null Het
Mrgprb8 G A 7: 48,038,892 (GRCm39) V188I probably benign Het
Ocln T C 13: 100,676,223 (GRCm39) D90G probably damaging Het
Ofcc1 C T 13: 40,241,423 (GRCm39) R695Q possibly damaging Het
Or11h23 T A 14: 50,948,563 (GRCm39) Y259N probably damaging Het
Or52ab7 G A 7: 102,978,328 (GRCm39) V212I probably benign Het
Otogl G A 10: 107,612,978 (GRCm39) silent Het
Pak5 A T 2: 135,939,454 (GRCm39) H560Q probably damaging Het
Pigg T C 5: 108,480,694 (GRCm39) S493P probably damaging Het
Ppp6r3 A G 19: 3,564,719 (GRCm39) W185R probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Sacs T A 14: 61,450,522 (GRCm39) D4189E probably damaging Het
Serpinb9b A G 13: 33,213,467 (GRCm39) N8S possibly damaging Het
Slit3 A G 11: 35,524,779 (GRCm39) T730A possibly damaging Het
Srgap3 A T 6: 112,806,503 (GRCm39) F53I probably damaging Het
Stc2 T A 11: 31,315,351 (GRCm39) K163* probably null Het
Tasor2 T C 13: 3,626,769 (GRCm39) I1060M probably benign Het
Tlk1 T A 2: 70,568,770 (GRCm39) K411* probably null Het
Ttc27 G T 17: 75,036,883 (GRCm39) L185F probably benign Het
Vmn2r102 C T 17: 19,880,694 (GRCm39) Q12* probably null Het
Vmn2r95 C T 17: 18,672,551 (GRCm39) probably benign Het
Vopp1 A G 6: 57,739,492 (GRCm39) Y19H possibly damaging Het
Wdr64 T A 1: 175,638,176 (GRCm39) probably null Het
Other mutations in Cd93
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0076:Cd93 UTSW 2 148,284,056 (GRCm39) missense probably benign
R0379:Cd93 UTSW 2 148,283,430 (GRCm39) splice site probably benign
R1951:Cd93 UTSW 2 148,283,778 (GRCm39) missense probably benign 0.01
R2399:Cd93 UTSW 2 148,284,071 (GRCm39) missense probably benign 0.37
R4231:Cd93 UTSW 2 148,284,880 (GRCm39) missense probably benign 0.02
R4830:Cd93 UTSW 2 148,285,299 (GRCm39) nonsense probably null
R5940:Cd93 UTSW 2 148,284,152 (GRCm39) missense probably benign 0.25
R6057:Cd93 UTSW 2 148,283,439 (GRCm39) missense probably damaging 1.00
R7142:Cd93 UTSW 2 148,283,725 (GRCm39) nonsense probably null
R7184:Cd93 UTSW 2 148,284,459 (GRCm39) missense possibly damaging 0.76
R7276:Cd93 UTSW 2 148,283,660 (GRCm39) missense probably damaging 0.98
R7315:Cd93 UTSW 2 148,284,461 (GRCm39) missense probably damaging 1.00
R8750:Cd93 UTSW 2 148,285,080 (GRCm39) missense probably benign 0.00
R8897:Cd93 UTSW 2 148,283,532 (GRCm39) missense probably benign 0.34
R9069:Cd93 UTSW 2 148,284,071 (GRCm39) missense probably benign 0.37
Z1088:Cd93 UTSW 2 148,284,284 (GRCm39) missense probably benign 0.25
Predicted Primers PCR Primer
(F):5'- ACTGGGCATTTCAGTAGGAGG -3'
(R):5'- GCTTCCACTGTGAATGTTGG -3'

Sequencing Primer
(F):5'- TCAGTAGGAGGCATAGTACTCTCC -3'
(R):5'- GGTTACCAACCCAGTGGC -3'
Posted On 2018-08-29