Incidental Mutation 'R2968:Grep1'
ID 477778
Institutional Source Beutler Lab
Gene Symbol Grep1
Ensembl Gene ENSMUSG00000043747
Gene Name glycine rich extracellular protein 1
Synonyms 1520401A03Rik
MMRRC Submission 040524-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R2968 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 23923462-23941757 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23934785 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 149 (F149S)
Ref Sequence ENSEMBL: ENSMUSP00000144664 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178006] [ENSMUST00000201734]
AlphaFold A0A0J9YVH6
Predicted Effect noncoding transcript
Transcript: ENSMUST00000062827
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176095
Predicted Effect possibly damaging
Transcript: ENSMUST00000178006
AA Change: F80S

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000144253
Gene: ENSMUSG00000043747
AA Change: F80S

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
low complexity region 18 47 N/A INTRINSIC
internal_repeat_1 49 75 7.63e-5 PROSPERO
low complexity region 82 99 N/A INTRINSIC
internal_repeat_1 101 132 7.63e-5 PROSPERO
low complexity region 133 164 N/A INTRINSIC
low complexity region 174 196 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000201734
AA Change: F149S

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000144664
Gene: ENSMUSG00000043747
AA Change: F149S

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 61 69 N/A INTRINSIC
low complexity region 72 85 N/A INTRINSIC
low complexity region 87 116 N/A INTRINSIC
internal_repeat_1 117 149 3.72e-8 PROSPERO
low complexity region 151 168 N/A INTRINSIC
low complexity region 202 233 N/A INTRINSIC
low complexity region 238 258 N/A INTRINSIC
internal_repeat_1 268 310 3.72e-8 PROSPERO
low complexity region 518 528 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T A 5: 8,911,485 (GRCm39) I1113N probably damaging Het
Arhgap12 A T 18: 6,111,732 (GRCm39) S211T probably damaging Het
Celsr3 G T 9: 108,709,390 (GRCm39) C1412F probably damaging Het
Cnga3 A G 1: 37,300,159 (GRCm39) Y331C probably damaging Het
Cntln T A 4: 84,875,504 (GRCm39) S313T probably benign Het
Ddx54 T A 5: 120,756,694 (GRCm39) D134E probably damaging Het
Dennd4c A G 4: 86,699,881 (GRCm39) D244G possibly damaging Het
Dsg3 A T 18: 20,658,282 (GRCm39) T298S possibly damaging Het
Dusp1 A T 17: 26,726,679 (GRCm39) F128I probably damaging Het
Fam83g T A 11: 61,594,304 (GRCm39) S613T probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably benign Het
Ighv8-12 C T 12: 115,611,570 (GRCm39) R118Q probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Mrgprb5 T A 7: 47,818,317 (GRCm39) R139S probably damaging Het
Or51b6 T C 7: 103,556,519 (GRCm39) V291A probably benign Het
Pcbp1 C T 6: 86,502,471 (GRCm39) E143K probably damaging Het
Plxna1 A G 6: 89,319,590 (GRCm39) S572P probably damaging Het
Serpina3n C T 12: 104,375,333 (GRCm39) T135M probably benign Het
Spink11 A T 18: 44,328,777 (GRCm39) F24I possibly damaging Het
Tes A G 6: 17,096,233 (GRCm39) T74A probably benign Het
Vipas39 T C 12: 87,289,345 (GRCm39) N373S probably benign Het
Wdr75 A G 1: 45,856,501 (GRCm39) D508G probably damaging Het
Other mutations in Grep1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0332:Grep1 UTSW 17 23,933,578 (GRCm39) splice site probably benign
R1165:Grep1 UTSW 17 23,929,489 (GRCm39) splice site probably benign
R1539:Grep1 UTSW 17 23,936,118 (GRCm39) splice site probably benign
R5459:Grep1 UTSW 17 23,930,817 (GRCm39) intron probably benign
R5800:Grep1 UTSW 17 23,936,966 (GRCm39) missense probably damaging 0.96
R5967:Grep1 UTSW 17 23,931,332 (GRCm39) missense probably damaging 1.00
R6246:Grep1 UTSW 17 23,929,465 (GRCm39) nonsense probably null
R6306:Grep1 UTSW 17 23,925,124 (GRCm39) missense possibly damaging 0.66
R6892:Grep1 UTSW 17 23,931,328 (GRCm39) missense probably damaging 0.97
R7126:Grep1 UTSW 17 23,939,538 (GRCm39) missense probably benign 0.23
R7264:Grep1 UTSW 17 23,931,308 (GRCm39) missense not run
R7563:Grep1 UTSW 17 23,936,302 (GRCm39) missense probably benign 0.27
R9058:Grep1 UTSW 17 23,935,016 (GRCm39) missense probably benign 0.05
R9323:Grep1 UTSW 17 23,937,387 (GRCm39) missense unknown
R9451:Grep1 UTSW 17 23,936,187 (GRCm39) missense unknown
Z1176:Grep1 UTSW 17 23,934,737 (GRCm39) missense possibly damaging 0.81
Predicted Primers
Posted On 2017-05-15