Incidental Mutation 'R7151:Proser3'
ID 554128
Institutional Source Beutler Lab
Gene Symbol Proser3
Ensembl Gene ENSMUSG00000036864
Gene Name proline and serine rich 3
Synonyms BC053749
MMRRC Submission 045253-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R7151 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 30238559-30251724 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30239749 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 452 (F452L)
Ref Sequence ENSEMBL: ENSMUSP00000103800 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062708] [ENSMUST00000108165] [ENSMUST00000215288]
AlphaFold Q7TSA6
Predicted Effect possibly damaging
Transcript: ENSMUST00000062708
AA Change: F452L

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000059135
Gene: ENSMUSG00000036864
AA Change: F452L

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 possibly damaging
Transcript: ENSMUST00000108165
AA Change: F452L

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000103800
Gene: ENSMUSG00000036864
AA Change: F452L

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 possibly damaging
Transcript: ENSMUST00000215288
AA Change: F452L

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6330409D20Rik T A 2: 32,630,618 (GRCm39) Q52L unknown Het
Acsl1 A G 8: 46,966,634 (GRCm39) D202G probably damaging Het
Adam3 A T 8: 25,185,271 (GRCm39) C476S probably damaging Het
Adam34 T A 8: 44,104,499 (GRCm39) E382V probably benign Het
Akap5 G A 12: 76,375,023 (GRCm39) V152I probably benign Het
Aldh5a1 C T 13: 25,121,382 (GRCm39) W57* probably null Het
Angptl2 C T 2: 33,133,922 (GRCm39) Q415* probably null Het
Bnc1 G T 7: 81,623,055 (GRCm39) T724N possibly damaging Het
Brca2 T C 5: 150,464,901 (GRCm39) V1555A probably benign Het
Btn1a1 T A 13: 23,643,483 (GRCm39) D322V probably damaging Het
Chsy3 T A 18: 59,542,357 (GRCm39) D498E possibly damaging Het
Ddx24 T C 12: 103,390,347 (GRCm39) T215A probably benign Het
Dhx57 A T 17: 80,580,476 (GRCm39) V492E probably damaging Het
Dnhd1 G A 7: 105,359,234 (GRCm39) R3523Q probably benign Het
Dock3 T A 9: 106,841,916 (GRCm39) D971V possibly damaging Het
Ercc8 T C 13: 108,323,816 (GRCm39) probably null Het
Erich5 T A 15: 34,471,095 (GRCm39) L108Q probably damaging Het
F5 A T 1: 164,029,230 (GRCm39) Y1743F probably damaging Het
Gale T C 4: 135,694,503 (GRCm39) V243A probably damaging Het
Gspt1 T A 16: 11,071,692 (GRCm39) Q57L probably benign Het
Gtf3a C A 5: 146,888,085 (GRCm39) Q129K probably benign Het
Heyl T C 4: 123,140,254 (GRCm39) V271A probably benign Het
Hsd17b4 T C 18: 50,261,437 (GRCm39) F7L probably damaging Het
Hspa12a T C 19: 58,810,594 (GRCm39) T150A probably benign Het
Ift140 T A 17: 25,274,699 (GRCm39) D790E probably damaging Het
Igkv4-69 T A 6: 69,260,917 (GRCm39) Y70F probably damaging Het
Il1rap T C 16: 26,530,878 (GRCm39) Y405H probably damaging Het
Insyn2a A C 7: 134,520,374 (GRCm39) I52S probably damaging Het
Irf2bpl G T 12: 86,930,127 (GRCm39) P182Q probably benign Het
Itm2b C A 14: 73,605,829 (GRCm39) probably benign Het
Kcnc2 T C 10: 112,294,414 (GRCm39) V106A possibly damaging Het
Krt87 C A 15: 101,387,529 (GRCm39) D170Y probably damaging Het
Lca5 T A 9: 83,280,693 (GRCm39) Y369F probably benign Het
Mgat5 T A 1: 127,373,999 (GRCm39) D466E probably damaging Het
Mier3 C T 13: 111,851,302 (GRCm39) P428L probably benign Het
Myo6 T C 9: 80,152,418 (GRCm39) Y167H unknown Het
Neu2 A G 1: 87,524,297 (GRCm39) E94G probably benign Het
Nlrp9a A T 7: 26,256,672 (GRCm39) K97* probably null Het
Npdc1 A G 2: 25,299,120 (GRCm39) M306V probably damaging Het
Odf2l A T 3: 144,832,827 (GRCm39) N95I probably benign Het
Or10j3 A G 1: 173,031,633 (GRCm39) K237E probably damaging Het
Or13d1 G T 4: 52,970,665 (GRCm39) V15L probably benign Het
Or5t16 A G 2: 86,819,385 (GRCm39) V45A probably benign Het
Or7g21 A G 9: 19,033,037 (GRCm39) Y259C possibly damaging Het
P2ry12 A G 3: 59,125,127 (GRCm39) F183L probably benign Het
Ptgfrn G T 3: 100,987,511 (GRCm39) Y117* probably null Het
Rab3gap2 G T 1: 184,980,250 (GRCm39) V360F probably benign Het
Rp1l1 A T 14: 64,266,475 (GRCm39) D687V possibly damaging Het
Rxfp2 T G 5: 149,966,572 (GRCm39) N103K probably benign Het
Scfd2 T A 5: 74,558,326 (GRCm39) Q517L possibly damaging Het
Scnn1b G A 7: 121,517,109 (GRCm39) A582T probably damaging Het
Serpinb6e T C 13: 34,021,818 (GRCm39) E170G probably damaging Het
Serpinb8 T A 1: 107,533,527 (GRCm39) V194E probably damaging Het
Sgcz T A 8: 38,006,833 (GRCm39) H191L possibly damaging Het
Sirt1 A T 10: 63,159,775 (GRCm39) L435Q probably damaging Het
Sorcs1 G A 19: 50,301,420 (GRCm39) P315S probably damaging Het
Spdef T A 17: 27,939,134 (GRCm39) S71C possibly damaging Het
Spta1 T A 1: 174,025,317 (GRCm39) H727Q probably damaging Het
Srsf1 C T 11: 87,940,084 (GRCm39) Q199* probably null Het
Stard9 A T 2: 120,526,623 (GRCm39) D960V probably benign Het
Tcp10c A T 17: 13,576,166 (GRCm39) I49F possibly damaging Het
Tgm2 T C 2: 157,971,315 (GRCm39) N308S possibly damaging Het
Tiam2 A G 17: 3,498,660 (GRCm39) D812G probably benign Het
Tph1 A T 7: 46,311,541 (GRCm39) V67D possibly damaging Het
Trps1 C T 15: 50,685,793 (GRCm39) R794H possibly damaging Het
Ttn C T 2: 76,683,505 (GRCm39) A906T Het
Vmn1r124 G A 7: 20,994,184 (GRCm39) P120L probably benign Het
Vmn2r92 A T 17: 18,387,005 (GRCm39) T115S probably benign Het
Wdr11 A G 7: 129,208,376 (GRCm39) D377G probably damaging Het
Wdr55 G T 18: 36,895,989 (GRCm39) A251S possibly damaging Het
Zbtb7b C T 3: 89,288,209 (GRCm39) R203H probably benign Het
Zfp109 A T 7: 23,929,231 (GRCm39) H67Q probably benign Het
Zfp462 G A 4: 55,051,271 (GRCm39) C2248Y probably damaging Het
Zyg11b T C 4: 108,102,119 (GRCm39) H534R possibly damaging Het
Other mutations in Proser3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00533:Proser3 APN 7 30,240,096 (GRCm39) missense possibly damaging 0.62
IGL01346:Proser3 APN 7 30,249,071 (GRCm39) missense probably benign 0.21
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
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
Predicted Primers PCR Primer
(F):5'- GACTTTTGCGGGACTCTGTC -3'
(R):5'- TGGGATGCTTCCTACCACAC -3'

Sequencing Primer
(F):5'- GACTCTGTCTTGGACCCACG -3'
(R):5'- GATGCTTCCTACCACACTGCTAAC -3'
Posted On 2019-05-15