Incidental Mutation 'IGL02217:Proser1'
ID 284943
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Proser1
Ensembl Gene ENSMUSG00000049504
Gene Name proline and serine rich 1
Synonyms 2810046L04Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02217
Quality Score
Status
Chromosome 3
Chromosomal Location 53371216-53389176 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 53378912 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 115 (K115E)
Ref Sequence ENSEMBL: ENSMUSP00000055253 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058577]
AlphaFold Q5PRE5
Predicted Effect probably damaging
Transcript: ENSMUST00000058577
AA Change: K115E

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000055253
Gene: ENSMUSG00000049504
AA Change: K115E

DomainStartEndE-ValueType
Pfam:DUF4476 1 63 5e-12 PFAM
Pfam:DUF4476 30 121 4e-27 PFAM
low complexity region 227 246 N/A INTRINSIC
low complexity region 276 297 N/A INTRINSIC
low complexity region 302 316 N/A INTRINSIC
low complexity region 321 331 N/A INTRINSIC
low complexity region 335 357 N/A INTRINSIC
low complexity region 399 412 N/A INTRINSIC
low complexity region 696 718 N/A INTRINSIC
low complexity region 781 804 N/A INTRINSIC
low complexity region 806 817 N/A INTRINSIC
low complexity region 820 834 N/A INTRINSIC
low complexity region 854 880 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141418
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a conserved protein containing proline and serine rich regions. These regions may be important in protein-protein interactions. [provided by RefSeq, Aug 2012]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik C A 18: 24,603,955 (GRCm39) probably benign Het
Actn1 G A 12: 80,220,868 (GRCm39) Q647* probably null Het
Adamts6 T A 13: 104,598,873 (GRCm39) probably benign Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Cabin1 G A 10: 75,535,881 (GRCm39) T1389I possibly damaging Het
Cenpc1 A G 5: 86,177,059 (GRCm39) probably benign Het
Clca4a T A 3: 144,667,757 (GRCm39) T405S possibly damaging Het
Cntln G A 4: 85,018,495 (GRCm39) V1168M probably damaging Het
Col18a1 A G 10: 76,889,132 (GRCm39) S1494P probably damaging Het
Cps1 A T 1: 67,213,541 (GRCm39) T758S probably benign Het
Cul3 A T 1: 80,261,484 (GRCm39) M247K probably damaging Het
Cyp3a57 A G 5: 145,305,953 (GRCm39) probably null Het
Dennd4c T A 4: 86,732,036 (GRCm39) C917S probably benign Het
Dhrs11 A T 11: 84,713,221 (GRCm39) Y166* probably null Het
Dtl A G 1: 191,300,426 (GRCm39) V146A probably damaging Het
Exosc9 A G 3: 36,606,893 (GRCm39) E20G probably damaging Het
Fer A G 17: 64,445,960 (GRCm39) K437R probably benign Het
Fkbp6 A T 5: 135,366,484 (GRCm39) V284E probably benign Het
Foxq1 A T 13: 31,743,152 (GRCm39) S85C probably damaging Het
Galnt12 T A 4: 47,113,832 (GRCm39) S83R probably damaging Het
Gpr156 A G 16: 37,825,673 (GRCm39) D630G probably benign Het
Hace1 A T 10: 45,466,471 (GRCm39) probably null Het
Hemgn G T 4: 46,396,420 (GRCm39) T272K probably damaging Het
Ifi213 T G 1: 173,422,598 (GRCm39) E89A possibly damaging Het
Jarid2 A G 13: 45,066,677 (GRCm39) E954G probably damaging Het
Kcnu1 A G 8: 26,348,212 (GRCm39) D126G probably damaging Het
Lbh A T 17: 73,228,247 (GRCm39) I31F possibly damaging Het
Lrrc37 T C 11: 103,503,697 (GRCm39) probably benign Het
Mdfic2 T A 6: 98,225,033 (GRCm39) E83D possibly damaging Het
Muc6 T C 7: 141,235,889 (GRCm39) E490G probably damaging Het
Ncoa3 T C 2: 165,897,266 (GRCm39) S686P probably damaging Het
Nme4 A G 17: 26,312,834 (GRCm39) M108T probably damaging Het
Nod1 A C 6: 54,920,404 (GRCm39) V638G possibly damaging Het
Nrip2 A G 6: 128,383,502 (GRCm39) N70S probably damaging Het
Or2bd2 T A 7: 6,443,244 (GRCm39) I115N probably damaging Het
Or5as1 A G 2: 86,980,231 (GRCm39) M258T probably benign Het
Pitrm1 G A 13: 6,617,377 (GRCm39) probably benign Het
Ptov1 C T 7: 44,516,900 (GRCm39) G70R probably damaging Het
Qtrt1 T G 9: 21,328,685 (GRCm39) probably null Het
Rbbp8nl A G 2: 179,919,981 (GRCm39) probably benign Het
Rplp1rt A T 19: 12,824,227 (GRCm39) noncoding transcript Het
Rtn3 G A 19: 7,412,449 (GRCm39) T794I probably damaging Het
Setd4 A G 16: 93,390,183 (GRCm39) L82P probably damaging Het
Shank2 C T 7: 143,838,784 (GRCm39) L27F possibly damaging Het
Srpk2 A C 5: 23,750,568 (GRCm39) V45G probably damaging Het
Utrn A G 10: 12,627,303 (GRCm39) F57S probably damaging Het
Vcan T G 13: 89,851,196 (GRCm39) T1255P probably damaging Het
Vmn2r16 A C 5: 109,487,676 (GRCm39) H183P probably damaging Het
Wdr48 T C 9: 119,738,601 (GRCm39) I286T probably benign Het
Other mutations in Proser1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02035:Proser1 APN 3 53,386,251 (GRCm39) missense probably benign 0.00
IGL02260:Proser1 APN 3 53,386,365 (GRCm39) missense probably damaging 1.00
IGL02943:Proser1 APN 3 53,386,524 (GRCm39) missense probably damaging 0.98
donatello UTSW 3 53,374,572 (GRCm39) missense probably damaging 1.00
R0166:Proser1 UTSW 3 53,388,038 (GRCm39) missense possibly damaging 0.89
R0230:Proser1 UTSW 3 53,386,383 (GRCm39) missense probably damaging 0.99
R0579:Proser1 UTSW 3 53,374,572 (GRCm39) missense probably damaging 1.00
R0599:Proser1 UTSW 3 53,386,485 (GRCm39) missense probably benign 0.04
R0616:Proser1 UTSW 3 53,382,118 (GRCm39) missense probably damaging 0.98
R0622:Proser1 UTSW 3 53,385,281 (GRCm39) missense probably benign 0.22
R0629:Proser1 UTSW 3 53,386,485 (GRCm39) missense probably benign 0.04
R0707:Proser1 UTSW 3 53,386,197 (GRCm39) missense probably damaging 1.00
R1568:Proser1 UTSW 3 53,385,180 (GRCm39) missense possibly damaging 0.54
R1997:Proser1 UTSW 3 53,386,292 (GRCm39) missense probably benign 0.10
R2129:Proser1 UTSW 3 53,385,366 (GRCm39) missense probably benign 0.20
R2207:Proser1 UTSW 3 53,385,812 (GRCm39) missense probably benign 0.00
R2851:Proser1 UTSW 3 53,387,966 (GRCm39) missense probably benign 0.07
R4077:Proser1 UTSW 3 53,385,962 (GRCm39) missense probably damaging 1.00
R4093:Proser1 UTSW 3 53,387,133 (GRCm39) critical splice donor site probably null
R4970:Proser1 UTSW 3 53,371,727 (GRCm39) missense probably damaging 1.00
R4988:Proser1 UTSW 3 53,387,046 (GRCm39) missense probably damaging 0.98
R5611:Proser1 UTSW 3 53,386,296 (GRCm39) missense probably benign 0.10
R6090:Proser1 UTSW 3 53,386,088 (GRCm39) missense probably benign 0.00
R6146:Proser1 UTSW 3 53,385,540 (GRCm39) missense probably damaging 1.00
R6459:Proser1 UTSW 3 53,385,750 (GRCm39) missense possibly damaging 0.51
R6880:Proser1 UTSW 3 53,385,260 (GRCm39) missense probably benign
R7308:Proser1 UTSW 3 53,386,125 (GRCm39) missense probably benign 0.40
R7456:Proser1 UTSW 3 53,385,939 (GRCm39) missense probably damaging 0.99
R7787:Proser1 UTSW 3 53,380,969 (GRCm39) missense probably damaging 1.00
R7903:Proser1 UTSW 3 53,386,503 (GRCm39) nonsense probably null
R8108:Proser1 UTSW 3 53,379,509 (GRCm39) critical splice donor site probably null
R8172:Proser1 UTSW 3 53,386,272 (GRCm39) missense possibly damaging 0.73
R8414:Proser1 UTSW 3 53,385,977 (GRCm39) missense probably damaging 1.00
R8677:Proser1 UTSW 3 53,385,122 (GRCm39) missense probably benign 0.01
R9064:Proser1 UTSW 3 53,384,927 (GRCm39) missense probably damaging 1.00
R9164:Proser1 UTSW 3 53,379,494 (GRCm39) missense probably benign 0.03
R9555:Proser1 UTSW 3 53,378,876 (GRCm39) missense possibly damaging 0.81
Posted On 2015-04-16