Incidental Mutation 'R7309:Prr23a2'
ID 567452
Institutional Source Beutler Lab
Gene Symbol Prr23a2
Ensembl Gene ENSMUSG00000063058
Gene Name proline rich 23A, member 2
Synonyms Gm6406
MMRRC Submission 045408-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R7309 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 98738644-98739405 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 98739027 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 128 (D128E)
Ref Sequence ENSEMBL: ENSMUSP00000071270 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071302]
AlphaFold D3YWX5
Predicted Effect probably benign
Transcript: ENSMUST00000071302
AA Change: D128E

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000071270
Gene: ENSMUSG00000063058
AA Change: D128E

DomainStartEndE-ValueType
Pfam:DUF2476 2 250 1.5e-92 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 94% (47/50)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A C 5: 109,884,819 (GRCm39) H346Q probably damaging Het
4932414N04Rik A T 2: 68,546,530 (GRCm39) I71L probably benign Het
Anapc1 A G 2: 128,516,604 (GRCm39) S377P probably damaging Het
Cldnd2 A G 7: 43,091,133 (GRCm39) T22A possibly damaging Het
Comp A T 8: 70,826,328 (GRCm39) probably null Het
Cop1 A G 1: 159,134,195 (GRCm39) K446E probably damaging Het
Cox18 T C 5: 90,362,917 (GRCm39) T314A possibly damaging Het
Csrp3 A G 7: 48,485,317 (GRCm39) V60A probably benign Het
Dnah8 A T 17: 31,093,988 (GRCm39) Y4694F probably damaging Het
Dnm1l A G 16: 16,139,510 (GRCm39) Y493H probably damaging Het
Esf1 A T 2: 139,967,011 (GRCm39) probably null Het
Fam187a T A 11: 102,776,832 (GRCm39) V212E probably damaging Het
Fign A T 2: 63,810,301 (GRCm39) M323K possibly damaging Het
Foxf2 A G 13: 31,810,496 (GRCm39) K145R probably damaging Het
Fxyd5 T C 7: 30,734,829 (GRCm39) N133D probably benign Het
Hnrnpdl A T 5: 100,185,482 (GRCm39) L240* probably null Het
Kcna7 T G 7: 45,058,679 (GRCm39) F322C probably damaging Het
Kcnj9 A G 1: 172,153,825 (GRCm39) C100R probably damaging Het
Lrrc14b C A 13: 74,511,321 (GRCm39) C253F probably benign Het
Map3k11 T C 19: 5,740,486 (GRCm39) V71A probably damaging Het
Med13 C A 11: 86,181,888 (GRCm39) M1315I probably benign Het
Mettl24 T C 10: 40,686,496 (GRCm39) V291A probably benign Het
Miox G T 15: 89,220,252 (GRCm39) C148F probably damaging Het
Mpdz A T 4: 81,300,195 (GRCm39) probably null Het
Mthfsd G A 8: 121,835,070 (GRCm39) probably benign Het
Myh15 G A 16: 48,916,828 (GRCm39) A383T probably benign Het
Nlrc5 A G 8: 95,200,670 (GRCm39) H117R probably benign Het
Ntrk1 A T 3: 87,702,384 (GRCm39) M23K probably benign Het
Or14c45 T A 7: 86,176,349 (GRCm39) L128H probably damaging Het
Or4c3d T A 2: 89,881,801 (GRCm39) N289I probably damaging Het
Or8g21 T A 9: 38,906,576 (GRCm39) S52C probably damaging Het
Pkd1l3 A G 8: 110,374,893 (GRCm39) probably null Het
Plcz1 A T 6: 139,968,882 (GRCm39) D185E probably damaging Het
Plekhg5 C A 4: 152,196,985 (GRCm39) Q757K possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,118 (GRCm39) probably benign Het
Sgsm1 A T 5: 113,416,712 (GRCm39) probably null Het
Sh3bp5 C T 14: 31,100,246 (GRCm39) V221M probably benign Het
Slc25a27 A T 17: 43,975,083 (GRCm39) D59E probably benign Het
Slc35e1 G C 8: 73,246,358 (GRCm39) R25G unknown Het
Slc4a4 T C 5: 89,318,610 (GRCm39) V626A probably benign Het
Slfn5 T C 11: 82,847,529 (GRCm39) L138P probably damaging Het
Stat1 A G 1: 52,165,780 (GRCm39) probably null Het
Tnks2 G T 19: 36,829,936 (GRCm39) A206S probably damaging Het
Trav7-1 C A 14: 52,892,521 (GRCm39) Q25K probably benign Het
Ttn A G 2: 76,728,670 (GRCm39) M5470T unknown Het
Vps35 A T 8: 86,001,596 (GRCm39) D407E probably benign Het
Wdr90 T C 17: 26,079,676 (GRCm39) D190G probably benign Het
Wdr93 T A 7: 79,423,103 (GRCm39) F456I possibly damaging Het
Wdr95 A G 5: 149,529,758 (GRCm39) E675G probably benign Het
Other mutations in Prr23a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00970:Prr23a2 APN 9 98,739,014 (GRCm39) missense probably benign 0.03
IGL01867:Prr23a2 APN 9 98,739,113 (GRCm39) missense probably benign
R0542:Prr23a2 UTSW 9 98,739,086 (GRCm39) missense probably benign 0.00
R0566:Prr23a2 UTSW 9 98,739,041 (GRCm39) missense possibly damaging 0.95
R0831:Prr23a2 UTSW 9 98,738,917 (GRCm39) missense probably damaging 1.00
R5382:Prr23a2 UTSW 9 98,739,229 (GRCm39) missense probably damaging 1.00
R9439:Prr23a2 UTSW 9 98,738,921 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGTCACCTCAGACATCAGC -3'
(R):5'- TTCCTGCAACAAAGGACTGGG -3'

Sequencing Primer
(F):5'- TGCAGTTGCCCCTGGATG -3'
(R):5'- GCACCCCTGGGATGGAG -3'
Posted On 2019-06-26