Incidental Mutation 'IGL01346:Proser3'
ID 75043
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Proser3
Ensembl Gene ENSMUSG00000036864
Gene Name proline and serine rich 3
Synonyms BC053749
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # IGL01346
Quality Score
Status
Chromosome 7
Chromosomal Location 30238559-30251724 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30249071 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 7 (N7S)
Ref Sequence ENSEMBL: ENSMUSP00000148912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044048] [ENSMUST00000062708] [ENSMUST00000108165] [ENSMUST00000153594] [ENSMUST00000215288]
AlphaFold Q7TSA6
Predicted Effect probably benign
Transcript: ENSMUST00000044048
SMART Domains Protein: ENSMUSP00000039172
Gene: ENSMUSG00000036854

DomainStartEndE-ValueType
Pfam:Crystallin 1 62 4.4e-24 PFAM
Pfam:HSP20 66 158 5.6e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000062708
AA Change: N7S

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000059135
Gene: ENSMUSG00000036864
AA Change: N7S

DomainStartEndE-ValueType
low complexity region 33 56 N/A INTRINSIC
low complexity region 128 140 N/A INTRINSIC
low complexity region 152 163 N/A INTRINSIC
low complexity region 179 202 N/A INTRINSIC
low complexity region 351 365 N/A INTRINSIC
low complexity region 369 383 N/A INTRINSIC
low complexity region 388 407 N/A INTRINSIC
low complexity region 599 614 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108165
AA Change: N7S

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000103800
Gene: ENSMUSG00000036864
AA Change: N7S

DomainStartEndE-ValueType
low complexity region 33 56 N/A INTRINSIC
low complexity region 128 140 N/A INTRINSIC
low complexity region 152 163 N/A INTRINSIC
low complexity region 179 202 N/A INTRINSIC
low complexity region 351 365 N/A INTRINSIC
low complexity region 369 383 N/A INTRINSIC
low complexity region 388 407 N/A INTRINSIC
low complexity region 599 614 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123355
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126989
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134113
Predicted Effect probably benign
Transcript: ENSMUST00000153594
AA Change: N7S

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000123095
Gene: ENSMUSG00000036864
AA Change: N7S

DomainStartEndE-ValueType
low complexity region 33 56 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208706
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199248
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146732
Predicted Effect probably benign
Transcript: ENSMUST00000215288
AA Change: N7S

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3300002I08Rik A G 2: 150,152,980 (GRCm39) V135A unknown Het
Cnot4 A T 6: 35,047,183 (GRCm39) I143N probably damaging Het
Cnot6l A T 5: 96,234,105 (GRCm39) M302K probably damaging Het
Dmxl2 T C 9: 54,322,759 (GRCm39) T1542A probably damaging Het
Dnaaf9 A G 2: 130,633,766 (GRCm39) probably benign Het
Dnhd1 T C 7: 105,363,116 (GRCm39) S3893P probably benign Het
Duox2 A T 2: 122,117,683 (GRCm39) probably benign Het
Dusp1 T C 17: 26,725,295 (GRCm39) N355D probably benign Het
Fam76b T C 9: 13,741,046 (GRCm39) C60R probably damaging Het
Gnptab G A 10: 88,272,041 (GRCm39) V944I possibly damaging Het
Gys1 A G 7: 45,091,961 (GRCm39) Y249C probably damaging Het
Ift88 A T 14: 57,681,862 (GRCm39) E215D probably damaging Het
Kcnu1 T C 8: 26,424,551 (GRCm39) probably benign Het
Lmln C A 16: 32,937,490 (GRCm39) N618K probably benign Het
Lrrc75a T C 11: 62,496,813 (GRCm39) T250A probably damaging Het
Mpp4 A G 1: 59,164,719 (GRCm39) S435P probably damaging Het
Myo1c T A 11: 75,563,076 (GRCm39) V1036E probably damaging Het
Nlrp12 T G 7: 3,289,316 (GRCm39) T399P probably damaging Het
Or2y16 A G 11: 49,335,595 (GRCm39) R306G probably benign Het
Or4c118 A G 2: 88,974,575 (GRCm39) F264S possibly damaging Het
Parp8 A T 13: 117,031,600 (GRCm39) C332S possibly damaging Het
Pdcd11 G A 19: 47,098,053 (GRCm39) V780I probably benign Het
Plekha5 A G 6: 140,480,292 (GRCm39) probably benign Het
Ppt1 T A 4: 122,737,848 (GRCm39) I62K probably damaging Het
Ptk2b A G 14: 66,414,567 (GRCm39) L311P possibly damaging Het
Rasal2 T C 1: 156,988,786 (GRCm39) N706S probably benign Het
Ripk2 A G 4: 16,132,775 (GRCm39) probably null Het
Setx T A 2: 29,034,821 (GRCm39) H435Q probably damaging Het
Smurf2 T A 11: 106,721,741 (GRCm39) probably benign Het
Snx32 A G 19: 5,547,764 (GRCm39) L182P possibly damaging Het
Stpg2 A G 3: 139,125,635 (GRCm39) probably benign Het
Taar2 A G 10: 23,816,997 (GRCm39) Y179C probably damaging Het
Tenm2 G A 11: 35,918,232 (GRCm39) R1843* probably null Het
Tmco4 T C 4: 138,748,260 (GRCm39) I280T probably damaging Het
Tuba4a C A 1: 75,193,921 (GRCm39) C46F probably damaging Het
Ubr1 A G 2: 120,703,603 (GRCm39) probably null Het
Vldlr A T 19: 27,217,081 (GRCm39) I45L possibly damaging Het
Vmn2r120 C A 17: 57,852,232 (GRCm39) G28V probably benign Het
Vmn2r37 C A 7: 9,209,680 (GRCm39) V611L probably benign Het
Vmn2r67 A G 7: 84,786,127 (GRCm39) L626P probably damaging Het
Wdr19 C T 5: 65,379,082 (GRCm39) probably benign Het
Zfp595 T A 13: 67,464,749 (GRCm39) K505* probably null Het
Other mutations in Proser3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00533:Proser3 APN 7 30,240,096 (GRCm39) missense possibly damaging 0.62
IGL02465:Proser3 APN 7 30,242,958 (GRCm39) missense possibly damaging 0.87
IGL03178:Proser3 APN 7 30,243,034 (GRCm39) missense probably damaging 0.99
IGL03372:Proser3 APN 7 30,242,993 (GRCm39) missense probably damaging 1.00
K3955:Proser3 UTSW 7 30,242,924 (GRCm39) missense probably damaging 0.96
R0008:Proser3 UTSW 7 30,239,563 (GRCm39) missense probably damaging 0.99
R0008:Proser3 UTSW 7 30,239,563 (GRCm39) missense probably damaging 0.99
R0255:Proser3 UTSW 7 30,245,842 (GRCm39) missense probably damaging 1.00
R0627:Proser3 UTSW 7 30,240,208 (GRCm39) missense probably benign 0.04
R0702:Proser3 UTSW 7 30,238,955 (GRCm39) missense probably benign 0.00
R0883:Proser3 UTSW 7 30,240,124 (GRCm39) missense probably damaging 0.99
R1185:Proser3 UTSW 7 30,245,572 (GRCm39) missense probably benign 0.01
R1457:Proser3 UTSW 7 30,239,172 (GRCm39) critical splice donor site probably null
R1650:Proser3 UTSW 7 30,239,751 (GRCm39) missense probably damaging 0.99
R1697:Proser3 UTSW 7 30,239,446 (GRCm39) missense probably benign 0.00
R3121:Proser3 UTSW 7 30,239,796 (GRCm39) missense probably benign 0.10
R4210:Proser3 UTSW 7 30,245,525 (GRCm39) intron probably benign
R4375:Proser3 UTSW 7 30,240,096 (GRCm39) missense possibly damaging 0.62
R5364:Proser3 UTSW 7 30,245,573 (GRCm39) missense possibly damaging 0.60
R6225:Proser3 UTSW 7 30,243,153 (GRCm39) missense probably damaging 1.00
R6831:Proser3 UTSW 7 30,239,781 (GRCm39) missense probably benign
R7151:Proser3 UTSW 7 30,239,749 (GRCm39) missense possibly damaging 0.79
R7707:Proser3 UTSW 7 30,239,216 (GRCm39) missense probably benign 0.27
R7748:Proser3 UTSW 7 30,239,497 (GRCm39) missense possibly damaging 0.90
R7923:Proser3 UTSW 7 30,249,086 (GRCm39) missense possibly damaging 0.79
R8975:Proser3 UTSW 7 30,239,458 (GRCm39) missense possibly damaging 0.95
R9366:Proser3 UTSW 7 30,248,478 (GRCm39) missense probably damaging 0.96
R9502:Proser3 UTSW 7 30,245,587 (GRCm39) missense possibly damaging 0.55
R9673:Proser3 UTSW 7 30,248,530 (GRCm39) missense probably damaging 0.99
X0028:Proser3 UTSW 7 30,240,187 (GRCm39) missense probably damaging 0.99
Z31818:Proser3 UTSW 7 30,245,790 (GRCm39) missense possibly damaging 0.85
Posted On 2013-10-07