Incidental Mutation 'R4259:Cd248'
ID 322588
Institutional Source Beutler Lab
Gene Symbol Cd248
Ensembl Gene ENSMUSG00000056481
Gene Name CD248 antigen, endosialin
Synonyms 2610111G01Rik, Cd164l1, Tem1
MMRRC Submission 041072-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.130) question?
Stock # R4259 (G1)
Quality Score 215
Status Validated
Chromosome 19
Chromosomal Location 5118106-5120668 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 5118866 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 238 (D238G)
Ref Sequence ENSEMBL: ENSMUSP00000070847 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070630] [ENSMUST00000140389] [ENSMUST00000151413]
AlphaFold Q91V98
Predicted Effect probably damaging
Transcript: ENSMUST00000070630
AA Change: D238G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000070847
Gene: ENSMUSG00000056481
AA Change: D238G

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
CLECT 22 157 1.14e-14 SMART
Blast:CCP 164 225 5e-31 BLAST
EGF 234 272 5.32e-1 SMART
EGF 274 311 2.08e-3 SMART
EGF_CA 312 351 2.92e-7 SMART
low complexity region 363 387 N/A INTRINSIC
low complexity region 478 491 N/A INTRINSIC
low complexity region 620 634 N/A INTRINSIC
transmembrane domain 694 716 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000140389
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143677
Predicted Effect probably benign
Transcript: ENSMUST00000151413
SMART Domains Protein: ENSMUSP00000121084
Gene: ENSMUSG00000061451

DomainStartEndE-ValueType
low complexity region 37 48 N/A INTRINSIC
Meta Mutation Damage Score 0.0861 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 98% (40/41)
MGI Phenotype PHENOTYPE: Homozygous null mice display decreased growth of implanted abdominal and intestinal tumors, but have normal wound healing and no gross morphological abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T C 17: 9,214,066 (GRCm39) S298P probably damaging Het
4930407I10Rik A G 15: 81,947,927 (GRCm39) D608G possibly damaging Het
Actr10 T C 12: 70,999,759 (GRCm39) V185A probably benign Het
Cep290 A C 10: 100,350,354 (GRCm39) E649D probably damaging Het
Cyp2b19 G A 7: 26,462,807 (GRCm39) G230S probably damaging Het
Dnah12 A G 14: 26,520,883 (GRCm39) I1901V probably benign Het
Garin1b C G 6: 29,320,800 (GRCm39) I141M probably damaging Het
Gpr171 A G 3: 59,004,948 (GRCm39) S276P probably damaging Het
Hap1 C A 11: 100,242,668 (GRCm39) probably null Het
Hcn1 A T 13: 118,111,884 (GRCm39) K616M unknown Het
Igkv4-90 T C 6: 68,784,461 (GRCm39) I18M possibly damaging Het
Itpr3 T A 17: 27,325,298 (GRCm39) V1297E probably damaging Het
Kmt2b T C 7: 30,280,506 (GRCm39) N1319D probably damaging Het
Krt72 T C 15: 101,686,692 (GRCm39) E418G probably damaging Het
Lama1 T C 17: 68,059,413 (GRCm39) S599P possibly damaging Het
Llgl1 C T 11: 60,600,394 (GRCm39) P581L probably benign Het
Lrrk1 A T 7: 65,980,512 (GRCm39) Y223N probably damaging Het
Or5p57 T A 7: 107,665,100 (GRCm39) K272* probably null Het
Or8g50 A T 9: 39,648,999 (GRCm39) D296V probably damaging Het
Or8k30 A G 2: 86,339,343 (GRCm39) D180G probably damaging Het
Pde6c G A 19: 38,151,293 (GRCm39) G608S probably damaging Het
Pdgfrb A C 18: 61,210,703 (GRCm39) T737P probably benign Het
Pdk2 T C 11: 94,931,970 (GRCm39) D38G probably benign Het
Pgk2 T G 17: 40,518,274 (GRCm39) T385P probably benign Het
Prl3b1 T C 13: 27,427,889 (GRCm39) probably null Het
Sat1 T C X: 153,998,182 (GRCm39) probably benign Het
Sgo2b A T 8: 64,381,330 (GRCm39) F501I probably benign Het
Sgsm2 T A 11: 74,782,854 (GRCm39) H34L probably damaging Het
Slc26a1 T A 5: 108,820,496 (GRCm39) K250N probably damaging Het
Slc38a4 A G 15: 96,896,374 (GRCm39) Y498H probably damaging Het
Slc5a4b A G 10: 75,939,686 (GRCm39) L150P probably damaging Het
Tbc1d32 A G 10: 55,925,867 (GRCm39) S1093P probably damaging Het
Other mutations in Cd248
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02413:Cd248 APN 19 5,120,201 (GRCm39) missense probably damaging 0.98
solidity UTSW 19 5,119,383 (GRCm39) nonsense probably null
R0130:Cd248 UTSW 19 5,119,990 (GRCm39) missense probably benign
R0145:Cd248 UTSW 19 5,119,051 (GRCm39) missense possibly damaging 0.85
R1589:Cd248 UTSW 19 5,119,960 (GRCm39) missense probably benign 0.01
R2091:Cd248 UTSW 19 5,120,074 (GRCm39) missense possibly damaging 0.84
R2253:Cd248 UTSW 19 5,118,154 (GRCm39) start codon destroyed probably null
R2381:Cd248 UTSW 19 5,119,221 (GRCm39) missense possibly damaging 0.68
R2386:Cd248 UTSW 19 5,119,221 (GRCm39) missense possibly damaging 0.68
R3892:Cd248 UTSW 19 5,119,534 (GRCm39) missense probably damaging 0.99
R4695:Cd248 UTSW 19 5,118,473 (GRCm39) missense probably damaging 0.98
R4897:Cd248 UTSW 19 5,119,195 (GRCm39) missense probably benign 0.33
R4985:Cd248 UTSW 19 5,119,820 (GRCm39) missense probably damaging 0.96
R5491:Cd248 UTSW 19 5,120,237 (GRCm39) missense probably damaging 1.00
R5688:Cd248 UTSW 19 5,119,963 (GRCm39) missense probably benign 0.01
R6301:Cd248 UTSW 19 5,120,009 (GRCm39) missense probably benign 0.03
R7260:Cd248 UTSW 19 5,119,383 (GRCm39) nonsense probably null
R8468:Cd248 UTSW 19 5,119,910 (GRCm39) missense possibly damaging 0.76
R8824:Cd248 UTSW 19 5,119,645 (GRCm39) missense probably benign 0.01
R9129:Cd248 UTSW 19 5,120,140 (GRCm39) missense probably benign 0.34
Z1177:Cd248 UTSW 19 5,119,193 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTACCTCTGCCAGTTTGGTTTTGAG -3'
(R):5'- TGGCAGCTATAGCCTTGTGG -3'

Sequencing Primer
(F):5'- TGCCTTGCCGCTTGAGG -3'
(R):5'- GCCCTCCAGGTTCACACTG -3'
Posted On 2015-06-20