Incidental Mutation 'R1207:Creld2'
ID 164810
Institutional Source Beutler Lab
Gene Symbol Creld2
Ensembl Gene ENSMUSG00000023272
Gene Name cysteine-rich with EGF-like domains 2
Synonyms 5730592L21Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1207 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 88703849-88710884 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 88704834 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Stop codon at position 103 (W103*)
Ref Sequence ENSEMBL: ENSMUSP00000024042 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024042] [ENSMUST00000043087] [ENSMUST00000159328] [ENSMUST00000162183]
AlphaFold Q9CYA0
Predicted Effect probably null
Transcript: ENSMUST00000024042
AA Change: W103*
SMART Domains Protein: ENSMUSP00000024042
Gene: ENSMUSG00000023272
AA Change: W103*

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:DUF3456 28 86 1.3e-7 PFAM
low complexity region 90 100 N/A INTRINSIC
EGF 137 176 3.76e-1 SMART
FU 191 238 1.2e-7 SMART
EGF_like 228 273 1.76e-3 SMART
FU 251 298 5.08e-6 SMART
EGF_CA 288 329 3.17e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000043087
SMART Domains Protein: ENSMUSP00000043480
Gene: ENSMUSG00000035845

DomainStartEndE-ValueType
Pfam:Glyco_transf_22 15 267 4e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159328
SMART Domains Protein: ENSMUSP00000125534
Gene: ENSMUSG00000035845

DomainStartEndE-ValueType
Pfam:Glyco_transf_22 15 169 6e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160222
Predicted Effect probably benign
Transcript: ENSMUST00000162183
SMART Domains Protein: ENSMUSP00000123935
Gene: ENSMUSG00000035845

DomainStartEndE-ValueType
Pfam:Glyco_transf_22 15 406 3.3e-44 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 6 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik GCC GC 13: 59,839,412 (GRCm39) probably null Het
Camsap3 C T 8: 3,654,708 (GRCm39) R782C probably damaging Het
Parp4 A C 14: 56,885,339 (GRCm39) I1473L unknown Het
Pdlim2 C T 14: 70,402,228 (GRCm39) R296H probably damaging Het
Spmip8 G T 8: 96,047,137 (GRCm39) R94L probably damaging Het
Ttn T A 2: 76,587,404 (GRCm39) K13236M probably damaging Het
Other mutations in Creld2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0510:Creld2 UTSW 15 88,704,159 (GRCm39) missense probably damaging 1.00
R1137:Creld2 UTSW 15 88,704,834 (GRCm39) nonsense probably null
R1163:Creld2 UTSW 15 88,704,834 (GRCm39) nonsense probably null
R1164:Creld2 UTSW 15 88,704,834 (GRCm39) nonsense probably null
R1206:Creld2 UTSW 15 88,704,834 (GRCm39) nonsense probably null
R1207:Creld2 UTSW 15 88,704,834 (GRCm39) nonsense probably null
R1457:Creld2 UTSW 15 88,707,956 (GRCm39) missense probably damaging 1.00
R1475:Creld2 UTSW 15 88,704,834 (GRCm39) nonsense probably null
R1915:Creld2 UTSW 15 88,704,834 (GRCm39) nonsense probably null
R2105:Creld2 UTSW 15 88,704,834 (GRCm39) nonsense probably null
R4297:Creld2 UTSW 15 88,707,956 (GRCm39) missense probably damaging 1.00
R5843:Creld2 UTSW 15 88,710,632 (GRCm39) missense probably damaging 1.00
R6066:Creld2 UTSW 15 88,707,969 (GRCm39) missense possibly damaging 0.95
R6402:Creld2 UTSW 15 88,707,344 (GRCm39) missense probably damaging 0.99
R6454:Creld2 UTSW 15 88,707,274 (GRCm39) nonsense probably null
R6543:Creld2 UTSW 15 88,709,481 (GRCm39) missense probably benign 0.00
R6808:Creld2 UTSW 15 88,709,413 (GRCm39) missense probably damaging 1.00
R6912:Creld2 UTSW 15 88,704,200 (GRCm39) missense probably damaging 1.00
R7342:Creld2 UTSW 15 88,710,610 (GRCm39) missense probably benign 0.03
R8058:Creld2 UTSW 15 88,710,632 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTGGAAACTCAGACTGGAGCCCC -3'
(R):5'- CTGAAGCAACTAAGGACCTCAGGTG -3'

Sequencing Primer
(F):5'- GGCTTCCCTGACTAATGGAATAAG -3'
(R):5'- CTAAGGACCTCAGGTGATTCG -3'
Posted On 2014-03-28