Incidental Mutation 'R3435:Prob1'
ID 267169
Institutional Source Beutler Lab
Gene Symbol Prob1
Ensembl Gene ENSMUSG00000073600
Gene Name proline rich basic protein 1
Synonyms LOC381148, Gm1614
MMRRC Submission 040653-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.148) question?
Stock # R3435 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 35783400-35788274 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35787294 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 320 (E320G)
Ref Sequence ENSEMBL: ENSMUSP00000140465 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025209] [ENSMUST00000025211] [ENSMUST00000097619] [ENSMUST00000190196]
AlphaFold A0A087WR45
Predicted Effect probably benign
Transcript: ENSMUST00000025209
SMART Domains Protein: ENSMUSP00000025209
Gene: ENSMUSG00000024352

DomainStartEndE-ValueType
Pfam:SPATA24 10 191 1.5e-83 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000025211
SMART Domains Protein: ENSMUSP00000025211
Gene: ENSMUSG00000024353

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:DUF3456 48 177 5.8e-12 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000097619
AA Change: E316G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000095224
Gene: ENSMUSG00000073600
AA Change: E316G

DomainStartEndE-ValueType
low complexity region 78 102 N/A INTRINSIC
low complexity region 142 155 N/A INTRINSIC
low complexity region 207 223 N/A INTRINSIC
low complexity region 377 396 N/A INTRINSIC
low complexity region 536 553 N/A INTRINSIC
low complexity region 829 848 N/A INTRINSIC
Pfam:DUF4585 862 931 4.6e-27 PFAM
low complexity region 989 1002 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186951
Predicted Effect possibly damaging
Transcript: ENSMUST00000190196
AA Change: E320G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000140465
Gene: ENSMUSG00000073600
AA Change: E320G

DomainStartEndE-ValueType
low complexity region 4 21 N/A INTRINSIC
low complexity region 82 106 N/A INTRINSIC
low complexity region 146 159 N/A INTRINSIC
low complexity region 211 227 N/A INTRINSIC
low complexity region 381 400 N/A INTRINSIC
low complexity region 540 557 N/A INTRINSIC
low complexity region 833 852 N/A INTRINSIC
Pfam:DUF4585 864 936 7.5e-27 PFAM
low complexity region 993 1006 N/A INTRINSIC
Meta Mutation Damage Score 0.1102 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 100% (33/33)
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik A C 2: 68,432,189 (GRCm39) D91A unknown Het
Abca9 T C 11: 110,045,256 (GRCm39) E359G probably benign Het
Atp7a G A X: 105,138,463 (GRCm39) R563K probably benign Het
Dnah1 T C 14: 31,038,631 (GRCm39) D150G probably damaging Het
Fam47e T A 5: 92,733,221 (GRCm39) V152D probably damaging Het
Gm19965 C A 1: 116,749,353 (GRCm39) H345N possibly damaging Het
Ift74 A G 4: 94,510,089 (GRCm39) probably null Het
Iqgap3 A G 3: 88,001,911 (GRCm39) I384V probably benign Het
Lrrc57 T A 2: 120,439,862 (GRCm39) probably benign Het
Mafk C T 5: 139,786,062 (GRCm39) Q87* probably null Het
Mast2 A T 4: 116,165,292 (GRCm39) S1314T probably benign Het
Mast4 A G 13: 102,923,887 (GRCm39) I508T probably damaging Het
Mdn1 T C 4: 32,733,726 (GRCm39) probably null Het
Mup6 G T 4: 60,004,116 (GRCm39) probably null Het
Neurl1a T C 19: 47,245,964 (GRCm39) V532A probably damaging Het
Nod2 A G 8: 89,390,637 (GRCm39) R293G possibly damaging Het
Notch3 A T 17: 32,377,592 (GRCm39) D161E possibly damaging Het
Or1j1 T A 2: 36,702,690 (GRCm39) Q138L probably benign Het
Osbpl3 A T 6: 50,325,050 (GRCm39) N149K possibly damaging Het
P2rx4 T A 5: 122,863,133 (GRCm39) I202K probably damaging Het
Pbxip1 T C 3: 89,354,543 (GRCm39) L354P probably damaging Het
Pld1 A T 3: 28,178,772 (GRCm39) M889L probably benign Het
Ppp2r2b T A 18: 42,874,174 (GRCm39) Q52L possibly damaging Het
Stard13 A T 5: 150,965,644 (GRCm39) L937Q probably damaging Het
Strn4 T C 7: 16,571,558 (GRCm39) S563P possibly damaging Het
Syne1 T C 10: 5,298,565 (GRCm39) D1114G probably damaging Het
Tmem117 T C 15: 94,992,573 (GRCm39) I411T probably damaging Het
Tmx3 T A 18: 90,546,028 (GRCm39) V203E probably damaging Het
Ttn T C 2: 76,709,062 (GRCm39) probably benign Het
Vmn1r209 A T 13: 22,990,267 (GRCm39) M141K probably benign Het
Other mutations in Prob1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01400:Prob1 APN 18 35,786,386 (GRCm39) missense possibly damaging 0.91
IGL02352:Prob1 APN 18 35,785,893 (GRCm39) missense possibly damaging 0.53
IGL02359:Prob1 APN 18 35,785,893 (GRCm39) missense possibly damaging 0.53
IGL02823:Prob1 APN 18 35,785,800 (GRCm39) missense possibly damaging 0.86
IGL03003:Prob1 APN 18 35,786,428 (GRCm39) missense possibly damaging 0.73
IGL03390:Prob1 APN 18 35,787,192 (GRCm39) missense probably benign 0.03
R0257:Prob1 UTSW 18 35,786,092 (GRCm39) missense possibly damaging 0.53
R0421:Prob1 UTSW 18 35,786,083 (GRCm39) missense possibly damaging 0.70
R0457:Prob1 UTSW 18 35,785,539 (GRCm39) missense probably damaging 0.98
R0485:Prob1 UTSW 18 35,786,878 (GRCm39) missense possibly damaging 0.53
R0575:Prob1 UTSW 18 35,787,774 (GRCm39) missense possibly damaging 0.85
R1056:Prob1 UTSW 18 35,786,663 (GRCm39) missense probably benign
R1147:Prob1 UTSW 18 35,787,859 (GRCm39) nonsense probably null
R1334:Prob1 UTSW 18 35,786,305 (GRCm39) missense possibly damaging 0.53
R1727:Prob1 UTSW 18 35,787,364 (GRCm39) missense possibly damaging 0.73
R1753:Prob1 UTSW 18 35,786,305 (GRCm39) missense possibly damaging 0.53
R1826:Prob1 UTSW 18 35,786,628 (GRCm39) missense possibly damaging 0.72
R1895:Prob1 UTSW 18 35,785,942 (GRCm39) missense possibly damaging 0.53
R1937:Prob1 UTSW 18 35,787,279 (GRCm39) missense possibly damaging 0.53
R2170:Prob1 UTSW 18 35,787,790 (GRCm39) missense probably benign 0.18
R4749:Prob1 UTSW 18 35,785,869 (GRCm39) missense possibly damaging 0.91
R4968:Prob1 UTSW 18 35,785,605 (GRCm39) missense probably damaging 0.98
R5107:Prob1 UTSW 18 35,785,989 (GRCm39) missense possibly damaging 0.53
R5602:Prob1 UTSW 18 35,787,079 (GRCm39) missense possibly damaging 0.96
R5646:Prob1 UTSW 18 35,787,167 (GRCm39) missense probably benign 0.18
R6035:Prob1 UTSW 18 35,787,835 (GRCm39) missense probably benign 0.18
R6747:Prob1 UTSW 18 35,788,207 (GRCm39) missense probably damaging 0.97
R6954:Prob1 UTSW 18 35,787,321 (GRCm39) missense probably benign
R7061:Prob1 UTSW 18 35,787,553 (GRCm39) missense probably benign 0.18
R7292:Prob1 UTSW 18 35,787,603 (GRCm39) missense possibly damaging 0.93
R7296:Prob1 UTSW 18 35,786,352 (GRCm39) missense possibly damaging 0.53
R7566:Prob1 UTSW 18 35,788,038 (GRCm39) missense probably benign 0.33
R7723:Prob1 UTSW 18 35,785,942 (GRCm39) missense possibly damaging 0.53
R7787:Prob1 UTSW 18 35,785,285 (GRCm39) missense possibly damaging 0.73
R7798:Prob1 UTSW 18 35,786,397 (GRCm39) missense possibly damaging 0.93
R8048:Prob1 UTSW 18 35,786,604 (GRCm39) missense probably benign 0.00
R8101:Prob1 UTSW 18 35,786,286 (GRCm39) missense possibly damaging 0.85
R8260:Prob1 UTSW 18 35,787,210 (GRCm39) missense possibly damaging 0.86
R8676:Prob1 UTSW 18 35,787,039 (GRCm39) missense possibly damaging 0.53
R9304:Prob1 UTSW 18 35,787,708 (GRCm39) missense probably damaging 1.00
R9440:Prob1 UTSW 18 35,786,218 (GRCm39) missense possibly damaging 0.53
X0067:Prob1 UTSW 18 35,786,144 (GRCm39) missense possibly damaging 0.70
Z1088:Prob1 UTSW 18 35,785,822 (GRCm39) missense possibly damaging 0.85
Predicted Primers PCR Primer
(F):5'- CTCCGTCTCCAAACAATCTTAGAAG -3'
(R):5'- CCCCAGCAACGTCACTTTTAAG -3'

Sequencing Primer
(F):5'- AGACCCGTTTGGAGCCTG -3'
(R):5'- AGCAACGTCACTTTTAAGTCTACCG -3'
Posted On 2015-02-18