Incidental Mutation 'R5800:Grep1'
ID 447373
Institutional Source Beutler Lab
Gene Symbol Grep1
Ensembl Gene ENSMUSG00000043747
Gene Name glycine rich extracellular protein 1
Synonyms 1520401A03Rik
MMRRC Submission 043389-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R5800 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 23923462-23941757 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 23936966 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 72 (P72S)
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 probably damaging
Transcript: ENSMUST00000178006
AA Change: P3S

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000144253
Gene: ENSMUSG00000043747
AA Change: P3S

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 probably damaging
Transcript: ENSMUST00000201734
AA Change: P72S

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000144664
Gene: ENSMUSG00000043747
AA Change: P72S

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
Meta Mutation Damage Score 0.3042 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 96% (50/52)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,360,591 (GRCm39) V540D possibly damaging Het
Adamts8 A T 9: 30,865,778 (GRCm39) D442V probably damaging Het
B3galt9 T C 2: 34,728,654 (GRCm39) F151S possibly damaging Het
Bltp1 A G 3: 37,106,592 (GRCm39) D4974G probably damaging Het
Casp4 G A 9: 5,308,915 (GRCm39) probably null Het
Cfap45 T A 1: 172,366,167 (GRCm39) V30E probably damaging Het
Col6a4 A G 9: 105,957,474 (GRCm39) F117L probably damaging Het
Dnah7c A T 1: 46,686,175 (GRCm39) T1810S probably benign Het
Drosha C T 15: 12,865,153 (GRCm39) T627M probably damaging Het
Drosha C A 15: 12,902,733 (GRCm39) A1001D probably damaging Het
Efhc1 G A 1: 21,049,005 (GRCm39) V473I probably benign Het
Ephx2 T C 14: 66,344,751 (GRCm39) K191R probably benign Het
Ero1b T A 13: 12,617,190 (GRCm39) probably null Het
Esyt2 A T 12: 116,333,808 (GRCm39) D837V possibly damaging Het
Fip1l1 T A 5: 74,706,742 (GRCm39) D126E possibly damaging Het
Fyttd1 C T 16: 32,711,658 (GRCm39) R86C probably damaging Het
Gm12888 T A 4: 121,176,625 (GRCm39) T59S probably damaging Het
Gm7353 A T 7: 3,160,168 (GRCm39) noncoding transcript Het
Gpr153 C T 4: 152,364,534 (GRCm39) Q197* probably null Het
H2-T23 G T 17: 36,342,496 (GRCm39) probably benign Het
Ighv1-16 T A 12: 114,629,531 (GRCm39) R85S probably benign Het
Ipcef1 T A 10: 6,840,569 (GRCm39) D376V probably damaging Het
Kdm1a T A 4: 136,300,381 (GRCm39) probably null Het
Klk1b27 A T 7: 43,705,088 (GRCm39) Q85L probably benign Het
Krt39 A T 11: 99,411,971 (GRCm39) D38E probably benign Het
L1td1 T C 4: 98,621,999 (GRCm39) L187P possibly damaging Het
Lrrc8b C T 5: 105,629,208 (GRCm39) S518L probably benign Het
Lyg1 C T 1: 37,986,034 (GRCm39) D176N probably damaging Het
Mctp1 A G 13: 76,836,678 (GRCm39) N82D probably damaging Het
Muc6 T C 7: 141,226,690 (GRCm39) probably benign Het
Nynrin T C 14: 56,108,088 (GRCm39) L1065P probably damaging Het
Or5b118 T C 19: 13,449,260 (GRCm39) S309P probably benign Het
Pcdh7 T A 5: 57,879,567 (GRCm39) S1041T probably damaging Het
Pkd1l1 T A 11: 8,811,302 (GRCm39) M1518L probably benign Het
Prl8a6 G T 13: 27,619,453 (GRCm39) Q90K probably benign Het
Ptcd1 T A 5: 145,096,475 (GRCm39) D206V probably damaging Het
Rap1gap C A 4: 137,447,688 (GRCm39) D478E probably benign Het
Scn5a A G 9: 119,330,732 (GRCm39) Y1269H probably damaging Het
Sdc2 A T 15: 33,028,290 (GRCm39) H136L probably benign Het
Senp6 A T 9: 80,033,715 (GRCm39) I120F probably damaging Het
Shisa5 G A 9: 108,885,162 (GRCm39) probably null Het
Slc19a1 A G 10: 76,878,103 (GRCm39) S213G probably null Het
Smim8 TTTAATGAAGAGCT TT 4: 34,771,261 (GRCm39) probably benign Het
Tbc1d20 T A 2: 152,150,245 (GRCm39) probably null Het
Tll2 T C 19: 41,093,373 (GRCm39) H481R probably benign Het
Tmc7 A G 7: 118,138,663 (GRCm39) V692A probably benign Het
Tmem234 T C 4: 129,500,924 (GRCm39) probably null Het
Vmn1r237 C G 17: 21,535,069 (GRCm39) T264S probably benign Het
Vmn2r98 A T 17: 19,286,260 (GRCm39) T253S probably benign Het
Zfyve27 T C 19: 42,171,102 (GRCm39) Y191H 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
R2968:Grep1 UTSW 17 23,934,785 (GRCm39) missense possibly damaging 0.90
R5459:Grep1 UTSW 17 23,930,817 (GRCm39) intron probably benign
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 PCR Primer
(F):5'- AAAGGCCCTGCTTCTAGACC -3'
(R):5'- AGGGAAGACTTTCAAGGTCCC -3'

Sequencing Primer
(F):5'- GGCCCTGCTTCTAGACCAATAC -3'
(R):5'- ATCACCCACTTCAGCTGGG -3'
Posted On 2016-12-15