Incidental Mutation 'R0599:Proser1'
ID 55195
Institutional Source Beutler Lab
Gene Symbol Proser1
Ensembl Gene ENSMUSG00000049504
Gene Name proline and serine rich 1
Synonyms 2810046L04Rik
MMRRC Submission 038788-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # R0599 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 53463666-53481755 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 53479064 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 789 (P789Q)
Ref Sequence ENSEMBL: ENSMUSP00000055253 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058577]
AlphaFold Q5PRE5
Predicted Effect probably benign
Transcript: ENSMUST00000058577
AA Change: P789Q

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000055253
Gene: ENSMUSG00000049504
AA Change: P789Q

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200328
Meta Mutation Damage Score 0.2547 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.0%
Validation Efficiency 98% (80/82)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A G 6: 128,552,245 L978P probably damaging Het
Abcb1a C T 5: 8,698,539 T290M probably benign Het
Abcd3 A T 3: 121,765,093 F585I probably damaging Het
Acan A G 7: 79,111,290 probably benign Het
Anxa6 T C 11: 54,979,466 D667G possibly damaging Het
Ap3m2 G T 8: 22,793,112 A208D possibly damaging Het
Arhgap17 A T 7: 123,303,790 probably benign Het
Bptf A G 11: 107,068,382 V1838A probably damaging Het
Brip1 T A 11: 86,152,737 M334L probably benign Het
Btbd10 C T 7: 113,335,309 probably benign Het
Btbd11 G A 10: 85,658,336 G1106D probably damaging Het
Cdh7 C A 1: 110,052,966 T208K probably damaging Het
Cnga4 A G 7: 105,405,818 Y100C probably damaging Het
Dnah10 G A 5: 124,800,953 V2644M probably damaging Het
Dnah9 T C 11: 65,965,689 D2882G probably damaging Het
Eapp T A 12: 54,685,962 K117M probably damaging Het
Eml3 T C 19: 8,939,063 V673A probably benign Het
Ephb4 G A 5: 137,369,855 C754Y probably damaging Het
Eps8l1 A G 7: 4,477,957 D33G possibly damaging Het
Farsa A G 8: 84,867,583 K321E probably damaging Het
Fry G A 5: 150,437,159 R2090Q probably damaging Het
Gm10283 A G 8: 60,501,224 probably benign Het
Grm4 A G 17: 27,431,490 I844T probably benign Het
Gtf2h3 A G 5: 124,588,628 D124G probably benign Het
Gulo A T 14: 65,990,441 D347E probably damaging Het
Hmcn1 A G 1: 150,609,801 F4350S possibly damaging Het
Hspg2 A G 4: 137,512,401 D473G probably damaging Het
Il17ra T A 6: 120,481,505 I539N probably damaging Het
Insrr A G 3: 87,813,133 E1026G probably damaging Het
Itga2 A T 13: 114,856,650 probably benign Het
Kdm1b A T 13: 47,058,810 D190V possibly damaging Het
Lima1 A T 15: 99,802,159 N146K probably damaging Het
Mettl7a3 A T 15: 100,335,383 N152Y possibly damaging Het
Mnt G T 11: 74,842,296 V85L probably benign Het
Mon2 T A 10: 123,026,065 probably benign Het
Mtf1 T C 4: 124,820,201 probably benign Het
Mylk4 T C 13: 32,712,754 probably null Het
Myo18b A C 5: 112,865,750 L780R probably damaging Het
Myo1e A G 9: 70,376,660 probably benign Het
Obscn A G 11: 59,073,696 S705P probably damaging Het
Ocrl A T X: 47,936,086 probably benign Het
Olfr1260 T C 2: 89,978,201 F141S probably benign Het
Olfr394 A T 11: 73,887,904 M156K probably benign Het
Olfr599 A G 7: 103,338,186 N44S probably damaging Het
Olfr639 A T 7: 104,012,188 C171* probably null Het
Otof T A 5: 30,370,705 K1931N probably damaging Het
Plcxd3 A G 15: 4,516,867 S118G probably damaging Het
Plcz1 T A 6: 140,028,542 Q58L probably benign Het
Rassf4 T C 6: 116,645,936 E38G probably damaging Het
Ros1 A T 10: 52,123,300 Y1164N probably damaging Het
Rpgrip1l A G 8: 91,305,000 I83T probably damaging Het
Scn9a T G 2: 66,526,799 K1053Q probably damaging Het
Sgsm1 G T 5: 113,245,028 Q1087K probably damaging Het
Slc16a10 T C 10: 40,141,918 D40G probably benign Het
Slc27a6 A G 18: 58,556,813 D117G probably damaging Het
Slc2a9 T A 5: 38,480,144 probably benign Het
Slc4a1 A G 11: 102,357,915 probably benign Het
Smarca1 T A X: 47,823,426 Q982L probably benign Het
Sp100 T A 1: 85,681,110 I320N possibly damaging Het
Stx8 A T 11: 68,109,362 R209S probably null Het
Sulf2 T C 2: 166,083,879 T453A possibly damaging Het
Syne2 AGAGTGAG AGAGTGAGTGAG 12: 76,097,960 probably null Het
Tenm2 T A 11: 36,024,780 I1976F possibly damaging Het
Tenm3 G A 8: 48,277,710 S1341L probably damaging Het
Tmem130 C T 5: 144,737,809 V369M probably damaging Het
Tmem200c A G 17: 68,840,511 K30E probably damaging Het
Tmem225 A G 9: 40,149,747 I117V possibly damaging Het
Top2a A G 11: 99,001,417 I1073T probably damaging Het
Trps1 A C 15: 50,831,860 Y296* probably null Het
Tubg1 T C 11: 101,125,336 M377T probably benign Het
Vmn1r35 G A 6: 66,679,513 H58Y probably benign Het
Vmn1r56 G A 7: 5,196,430 H63Y probably benign Het
Vmn1r75 T C 7: 11,881,262 probably null Het
Vnn3 T C 10: 23,865,705 S303P possibly damaging Het
Wdr49 C T 3: 75,431,076 probably null Het
Wdr49 T C 3: 75,449,890 probably null Het
Zcchc6 A G 13: 59,809,487 V7A probably damaging Het
Zzef1 T C 11: 72,913,178 L2582P probably damaging Het
Other mutations in Proser1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02035:Proser1 APN 3 53478830 missense probably benign 0.00
IGL02217:Proser1 APN 3 53471491 missense probably damaging 0.96
IGL02260:Proser1 APN 3 53478944 missense probably damaging 1.00
IGL02943:Proser1 APN 3 53479103 missense probably damaging 0.98
donatello UTSW 3 53467151 missense probably damaging 1.00
R0166:Proser1 UTSW 3 53480617 missense possibly damaging 0.89
R0230:Proser1 UTSW 3 53478962 missense probably damaging 0.99
R0579:Proser1 UTSW 3 53467151 missense probably damaging 1.00
R0616:Proser1 UTSW 3 53474697 missense probably damaging 0.98
R0622:Proser1 UTSW 3 53477860 missense probably benign 0.22
R0629:Proser1 UTSW 3 53479064 missense probably benign 0.04
R0707:Proser1 UTSW 3 53478776 missense probably damaging 1.00
R1568:Proser1 UTSW 3 53477759 missense possibly damaging 0.54
R1997:Proser1 UTSW 3 53478871 missense probably benign 0.10
R2129:Proser1 UTSW 3 53477945 missense probably benign 0.20
R2207:Proser1 UTSW 3 53478391 missense probably benign 0.00
R2851:Proser1 UTSW 3 53480545 missense probably benign 0.07
R4077:Proser1 UTSW 3 53478541 missense probably damaging 1.00
R4093:Proser1 UTSW 3 53479712 critical splice donor site probably null
R4970:Proser1 UTSW 3 53464306 missense probably damaging 1.00
R4988:Proser1 UTSW 3 53479625 missense probably damaging 0.98
R5611:Proser1 UTSW 3 53478875 missense probably benign 0.10
R6090:Proser1 UTSW 3 53478667 missense probably benign 0.00
R6146:Proser1 UTSW 3 53478119 missense probably damaging 1.00
R6459:Proser1 UTSW 3 53478329 missense possibly damaging 0.51
R6880:Proser1 UTSW 3 53477839 missense probably benign
R7308:Proser1 UTSW 3 53478704 missense probably benign 0.40
R7456:Proser1 UTSW 3 53478518 missense probably damaging 0.99
R7787:Proser1 UTSW 3 53473548 missense probably damaging 1.00
R7903:Proser1 UTSW 3 53479082 nonsense probably null
R8108:Proser1 UTSW 3 53472088 critical splice donor site probably null
R8172:Proser1 UTSW 3 53478851 missense possibly damaging 0.73
R8414:Proser1 UTSW 3 53478556 missense probably damaging 1.00
R8677:Proser1 UTSW 3 53477701 missense probably benign 0.01
R9064:Proser1 UTSW 3 53477506 missense probably damaging 1.00
R9164:Proser1 UTSW 3 53472073 missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- AGCTGTACACCCTAGCTCTGCAAC -3'
(R):5'- TGGCTACCTCAGAAGCAAGCCAAG -3'

Sequencing Primer
(F):5'- CCTAGCTCTGCAACAGTGC -3'
(R):5'- CATGAAACATTCTGGGTACTGG -3'
Posted On 2013-07-11