Incidental Mutation 'R6319:Prr18'
ID 509358
Institutional Source Beutler Lab
Gene Symbol Prr18
Ensembl Gene ENSMUSG00000055945
Gene Name proline rich 18
Synonyms 9630019K15Rik
MMRRC Submission 044474-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R6319 (G1)
Quality Score 167.009
Status Not validated
Chromosome 17
Chromosomal Location 8556291-8562945 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 8560143 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 100 (V100F)
Ref Sequence ENSEMBL: ENSMUSP00000155995 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069742] [ENSMUST00000163887] [ENSMUST00000232566]
AlphaFold Q6PAN7
Predicted Effect probably damaging
Transcript: ENSMUST00000069742
AA Change: V100F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000069019
Gene: ENSMUSG00000055945
AA Change: V100F

DomainStartEndE-ValueType
low complexity region 13 31 N/A INTRINSIC
low complexity region 40 54 N/A INTRINSIC
low complexity region 128 142 N/A INTRINSIC
low complexity region 258 272 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140890
Predicted Effect probably damaging
Transcript: ENSMUST00000163887
AA Change: V100F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000127393
Gene: ENSMUSG00000055945
AA Change: V100F

DomainStartEndE-ValueType
low complexity region 13 31 N/A INTRINSIC
low complexity region 40 54 N/A INTRINSIC
low complexity region 128 142 N/A INTRINSIC
low complexity region 258 272 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000232566
AA Change: V100F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Meta Mutation Damage Score 0.1068 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg2 T C 6: 58,651,723 (GRCm39) S372P probably benign Het
Adam34 A G 8: 44,104,952 (GRCm39) I231T probably benign Het
Adgrg6 T A 10: 14,307,366 (GRCm39) H840L probably damaging Het
Akap11 T C 14: 78,750,978 (GRCm39) T470A probably benign Het
Atp1a2 C G 1: 172,116,903 (GRCm39) R238P probably damaging Het
B430306N03Rik A T 17: 48,623,771 (GRCm39) Q24L probably damaging Het
Bmp6 A T 13: 38,530,390 (GRCm39) H161L probably benign Het
Cdca8 C A 4: 124,815,087 (GRCm39) D177Y possibly damaging Het
Col14a1 A G 15: 55,379,565 (GRCm39) T1693A probably damaging Het
Cpsf1 A G 15: 76,481,167 (GRCm39) S1230P probably damaging Het
Dcaf13 A G 15: 39,007,067 (GRCm39) T334A probably benign Het
Dhx32 A C 7: 133,338,955 (GRCm39) V360G probably damaging Het
Dmxl1 A G 18: 49,985,367 (GRCm39) T205A probably benign Het
Dxo A G 17: 35,057,367 (GRCm39) E253G probably damaging Het
Enpp1 T C 10: 24,523,929 (GRCm39) Y747C probably damaging Het
Gga2 T C 7: 121,601,389 (GRCm39) E238G possibly damaging Het
Gpn3 C T 5: 122,510,638 (GRCm39) probably benign Het
Grik4 A T 9: 42,477,632 (GRCm39) M518K probably damaging Het
Igf2r T A 17: 12,933,000 (GRCm39) S841C probably damaging Het
Itfg1 G T 8: 86,567,258 (GRCm39) T37K probably damaging Het
Kcnn4 T A 7: 24,081,165 (GRCm39) M301K possibly damaging Het
Kel C A 6: 41,679,381 (GRCm39) E127D probably benign Het
Lrp4 A G 2: 91,310,666 (GRCm39) Y569C probably damaging Het
Lrp6 A T 6: 134,518,798 (GRCm39) V89D possibly damaging Het
Mical2 A G 7: 111,927,884 (GRCm39) D674G possibly damaging Het
Mnd1 A G 3: 84,049,071 (GRCm39) S2P possibly damaging Het
Neb T A 2: 52,053,023 (GRCm39) probably null Het
Or51af1 T C 7: 103,141,932 (GRCm39) E51G possibly damaging Het
Or5h23 A G 16: 58,906,384 (GRCm39) I154T probably benign Het
Or8g17 A G 9: 38,930,810 (GRCm39) V9A probably damaging Het
Pcca G A 14: 122,820,035 (GRCm39) V60M probably damaging Het
Plekhm3 A T 1: 64,961,093 (GRCm39) Y388N probably benign Het
Rnf25 T C 1: 74,634,890 (GRCm39) Y44C probably damaging Het
Smg6 T C 11: 75,047,048 (GRCm39) L1247P probably damaging Het
Spata31e2 G A 1: 26,724,482 (GRCm39) R233C probably benign Het
Tdh T C 14: 63,733,186 (GRCm39) T137A probably benign Het
Tmem200a A G 10: 25,869,393 (GRCm39) V292A probably damaging Het
Ubr3 T C 2: 69,803,758 (GRCm39) V1116A probably benign Het
Ubr4 G A 4: 139,136,200 (GRCm39) E942K possibly damaging Het
Unc5b G A 10: 60,614,580 (GRCm39) A239V probably damaging Het
Vill G C 9: 118,892,716 (GRCm39) Q376H probably benign Het
Vmn2r115 A G 17: 23,566,877 (GRCm39) E463G possibly damaging Het
Other mutations in Prr18
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5354:Prr18 UTSW 17 8,559,892 (GRCm39) missense probably damaging 0.98
R6541:Prr18 UTSW 17 8,560,168 (GRCm39) missense possibly damaging 0.90
R7108:Prr18 UTSW 17 8,560,363 (GRCm39) missense probably damaging 0.98
R7178:Prr18 UTSW 17 8,560,741 (GRCm39) missense possibly damaging 0.83
R8906:Prr18 UTSW 17 8,560,476 (GRCm39) missense probably benign 0.32
R8976:Prr18 UTSW 17 8,560,047 (GRCm39) missense probably damaging 1.00
R9463:Prr18 UTSW 17 8,560,324 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGCAGAGTCATGTCATTCCTGC -3'
(R):5'- ATGACCAGGATGGCTTCTGG -3'

Sequencing Primer
(F):5'- AGAGTCATGTCATTCCTGCCTATG -3'
(R):5'- CTTCTGGGGTGAGGTTCAAGGAG -3'
Posted On 2018-04-02