Incidental Mutation 'R6726:Prr35'
ID 529885
Institutional Source Beutler Lab
Gene Symbol Prr35
Ensembl Gene ENSMUSG00000025727
Gene Name proline rich 35
Synonyms A930017K11Rik
MMRRC Submission 044844-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6726 (G1)
Quality Score 179.009
Status Validated
Chromosome 17
Chromosomal Location 26165361-26171539 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 26166689 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Alanine at position 283 (P283A)
Ref Sequence ENSEMBL: ENSMUSP00000125106 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085027] [ENSMUST00000145745] [ENSMUST00000148307] [ENSMUST00000148382] [ENSMUST00000162431] [ENSMUST00000181174] [ENSMUST00000208043]
AlphaFold E0CXQ2
Predicted Effect probably benign
Transcript: ENSMUST00000085027
SMART Domains Protein: ENSMUSP00000082102
Gene: ENSMUSG00000090113

DomainStartEndE-ValueType
Pfam:NHL 61 88 8.4e-8 PFAM
SCOP:d1crua_ 89 129 4e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000145745
Predicted Effect probably benign
Transcript: ENSMUST00000148307
Predicted Effect probably benign
Transcript: ENSMUST00000148382
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159540
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162078
Predicted Effect probably benign
Transcript: ENSMUST00000162431
AA Change: P283A

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000125106
Gene: ENSMUSG00000025727
AA Change: P283A

DomainStartEndE-ValueType
Pfam:zf-C2H2_7 17 70 4.3e-40 PFAM
low complexity region 77 90 N/A INTRINSIC
low complexity region 117 137 N/A INTRINSIC
low complexity region 158 170 N/A INTRINSIC
low complexity region 229 249 N/A INTRINSIC
low complexity region 294 311 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000181174
Predicted Effect probably benign
Transcript: ENSMUST00000208043
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180868
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.3%
Validation Efficiency 100% (41/41)
Allele List at MGI

All alleles(3) : Targeted(2) Gene trapped(1)

Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Arfgef2 T A 2: 166,735,540 (GRCm39) probably null Het
Arsk T C 13: 76,222,907 (GRCm39) Y230C probably damaging Het
Atf7ip G A 6: 136,559,389 (GRCm39) V737M probably damaging Het
Atp6v1e1 A T 6: 120,781,011 (GRCm39) probably null Het
Bbs9 T C 9: 22,557,260 (GRCm39) V3A probably benign Het
Brap T C 5: 121,813,365 (GRCm39) S243P probably damaging Het
Camkmt T A 17: 85,702,037 (GRCm39) I167N probably damaging Het
Ckap2l C A 2: 129,111,114 (GRCm39) E694D probably damaging Het
Crmp1 G A 5: 37,441,408 (GRCm39) V497I probably benign Het
Dbx2 A G 15: 95,522,741 (GRCm39) V322A possibly damaging Het
Dll1 C A 17: 15,590,513 (GRCm39) C401F probably damaging Het
Dock10 T C 1: 80,490,147 (GRCm39) T1991A probably damaging Het
Dock3 C T 9: 107,036,651 (GRCm39) W42* probably null Het
Epha6 C A 16: 60,245,198 (GRCm39) A334S possibly damaging Het
Hdac1-ps A G 17: 78,800,287 (GRCm39) E426G probably damaging Het
Insrr C T 3: 87,720,873 (GRCm39) R1044C probably damaging Het
Irs2 T C 8: 11,054,961 (GRCm39) N1157S possibly damaging Het
Kndc1 T C 7: 139,502,667 (GRCm39) probably null Het
Map3k19 T C 1: 127,748,185 (GRCm39) N1241S probably benign Het
Or9g4b T C 2: 85,615,906 (GRCm39) F17S possibly damaging Het
Paqr5 C T 9: 61,871,065 (GRCm39) R171Q probably damaging Het
Pcdh17 T A 14: 84,683,657 (GRCm39) D41E probably damaging Het
Plg T G 17: 12,597,595 (GRCm39) L14R probably damaging Het
Prkab1 A G 5: 116,158,092 (GRCm39) V168A probably benign Het
Ptdss1 C T 13: 67,101,595 (GRCm39) R95* probably null Het
Rab3gap2 T G 1: 184,980,062 (GRCm39) S327A probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Homo
Sdr42e2 T C 7: 120,425,332 (GRCm39) S308P probably damaging Het
Senp8 C A 9: 59,644,473 (GRCm39) V228L probably benign Het
Serpina10 A T 12: 103,594,628 (GRCm39) I197K probably benign Het
Serpinb6d A G 13: 33,854,718 (GRCm39) N231S probably benign Het
Sez6l2 T C 7: 126,567,177 (GRCm39) V869A probably damaging Het
Sgo2b T A 8: 64,380,769 (GRCm39) K688* probably null Het
Sh3kbp1 A T X: 158,624,176 (GRCm39) E39D probably benign Homo
Ufsp2 T C 8: 46,438,504 (GRCm39) M194T probably benign Het
Ush2a T C 1: 188,485,881 (GRCm39) I2997T possibly damaging Het
Vmn2r107 G A 17: 20,595,637 (GRCm39) G730D probably damaging Het
Wdr72 T C 9: 74,059,822 (GRCm39) Y411H possibly damaging Het
Xirp2 T C 2: 67,343,212 (GRCm39) S1818P possibly damaging Het
Other mutations in Prr35
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02035:Prr35 APN 17 26,166,136 (GRCm39) missense probably benign 0.02
R0042:Prr35 UTSW 17 26,166,956 (GRCm39) nonsense probably null
R0042:Prr35 UTSW 17 26,166,956 (GRCm39) nonsense probably null
R0558:Prr35 UTSW 17 26,166,523 (GRCm39) missense probably benign 0.00
R0856:Prr35 UTSW 17 26,167,001 (GRCm39) missense probably benign
R1623:Prr35 UTSW 17 26,166,508 (GRCm39) missense probably benign 0.01
R1830:Prr35 UTSW 17 26,165,691 (GRCm39) missense possibly damaging 0.95
R2173:Prr35 UTSW 17 26,167,461 (GRCm39) missense probably damaging 1.00
R7350:Prr35 UTSW 17 26,165,685 (GRCm39) missense probably damaging 1.00
R7369:Prr35 UTSW 17 26,166,934 (GRCm39) missense probably damaging 1.00
R7718:Prr35 UTSW 17 26,165,998 (GRCm39) nonsense probably null
R7841:Prr35 UTSW 17 26,167,458 (GRCm39) nonsense probably null
R8845:Prr35 UTSW 17 26,165,823 (GRCm39) missense probably benign 0.12
R9012:Prr35 UTSW 17 26,166,685 (GRCm39) missense probably benign
R9351:Prr35 UTSW 17 26,166,118 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGACAGCCAAATTTTGCCAGG -3'
(R):5'- AGGCCTCTTTTCCTATCTGGGG -3'

Sequencing Primer
(F):5'- CCAAATTTTGCCAGGTTCAAGGG -3'
(R):5'- TATCTGGGGCCCTCACTG -3'
Posted On 2018-08-01