Incidental Mutation 'R7456:Proser1'
ID 578112
Institutional Source Beutler Lab
Gene Symbol Proser1
Ensembl Gene ENSMUSG00000049504
Gene Name proline and serine rich 1
Synonyms 2810046L04Rik
MMRRC Submission 045530-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7456 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 53371216-53389176 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 53385939 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 607 (H607R)
Ref Sequence ENSEMBL: ENSMUSP00000055253 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058577]
AlphaFold Q5PRE5
Predicted Effect probably damaging
Transcript: ENSMUST00000058577
AA Change: H607R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000055253
Gene: ENSMUSG00000049504
AA Change: H607R

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acer2 A G 4: 86,792,748 (GRCm39) D8G possibly damaging Het
Angpt4 T C 2: 151,780,987 (GRCm39) Y412H probably damaging Het
Ankef1 A G 2: 136,387,734 (GRCm39) D217G probably benign Het
Ano2 A T 6: 125,940,508 (GRCm39) I544F probably benign Het
App G A 16: 84,970,448 (GRCm39) Het
Arhgef26 A G 3: 62,247,476 (GRCm39) T187A probably benign Het
Axin1 T A 17: 26,362,139 (GRCm39) V161E probably damaging Het
Bbs7 A T 3: 36,648,527 (GRCm39) V407D probably damaging Het
C1qtnf3 A T 15: 10,972,137 (GRCm39) E141V probably benign Het
C2 A G 17: 35,083,558 (GRCm39) I469T probably damaging Het
Cc2d1a A G 8: 84,866,868 (GRCm39) probably null Het
Cd226 A T 18: 89,224,747 (GRCm39) I10F probably damaging Het
Cep295nl T C 11: 118,224,376 (GRCm39) K156R possibly damaging Het
Cfap20dc A T 14: 8,442,933 (GRCm38) L612* probably null Het
Cfap44 A G 16: 44,252,305 (GRCm39) T805A probably benign Het
Chd9 G T 8: 91,659,153 (GRCm39) E38* probably null Het
Cldnd2 C T 7: 43,091,109 (GRCm39) L14F not run Het
Cyp11b2 T C 15: 74,725,379 (GRCm39) T247A probably benign Het
Dennd11 T G 6: 40,383,774 (GRCm39) M423L probably benign Het
Dsc1 T C 18: 20,219,879 (GRCm39) S764G probably benign Het
Dsg3 A T 18: 20,664,420 (GRCm39) T473S probably benign Het
Fam193a A T 5: 34,578,132 (GRCm39) I209F possibly damaging Het
Foxs1 T C 2: 152,775,045 (GRCm39) K3E probably benign Het
Gabrr3 C T 16: 59,227,853 (GRCm39) Q37* probably null Het
Gcm2 A T 13: 41,256,751 (GRCm39) W333R probably benign Het
Gcn1 C T 5: 115,743,005 (GRCm39) Q1559* probably null Het
Gfm2 A T 13: 97,282,211 (GRCm39) K69* probably null Het
Gm14295 T G 2: 176,500,943 (GRCm39) C144W possibly damaging Het
Gm32742 G A 9: 51,071,270 (GRCm39) T5I probably damaging Het
Gm5093 T C 17: 46,750,679 (GRCm39) D116G probably damaging Het
Gsn A T 2: 35,172,718 (GRCm39) K3N possibly damaging Het
H2-M2 C T 17: 37,792,552 (GRCm39) D240N possibly damaging Het
Habp2 G C 19: 56,307,957 (GRCm39) G482R probably damaging Het
Hnrnpm A T 17: 33,865,622 (GRCm39) Y680N possibly damaging Het
Hrc T A 7: 44,986,320 (GRCm39) D490E possibly damaging Het
Impg2 A G 16: 56,080,276 (GRCm39) I693M probably benign Het
Itga7 A G 10: 128,777,805 (GRCm39) Y262C probably damaging Het
Kif1c A G 11: 70,619,424 (GRCm39) T1020A probably benign Het
Kif23 T C 9: 61,844,402 (GRCm39) I139V probably benign Het
Klk1b5 A G 7: 43,500,255 (GRCm39) E281G probably benign Het
Kpna4 A G 3: 69,000,181 (GRCm39) V275A probably damaging Het
Lamb2 C A 9: 108,362,979 (GRCm39) D787E possibly damaging Het
Ldlrad3 A C 2: 101,785,270 (GRCm39) V235G probably damaging Het
Maneal A G 4: 124,750,767 (GRCm39) S330P probably damaging Het
Maz G A 7: 126,625,489 (GRCm39) Q35* probably null Het
Mthfd1l C T 10: 4,039,998 (GRCm39) T803M probably damaging Het
Muc5ac A G 7: 141,346,904 (GRCm39) Q325R probably benign Het
Myo3a C A 2: 22,412,255 (GRCm39) A758E probably benign Het
Ndufb7 A G 8: 84,293,482 (GRCm39) D12G probably benign Het
Nsun2 T A 13: 69,781,725 (GRCm39) C677S probably damaging Het
Obscn A G 11: 58,899,384 (GRCm39) F6471S probably benign Het
Or4c106 A T 2: 88,682,563 (GRCm39) I90F probably damaging Het
Or51k1 A G 7: 103,661,045 (GRCm39) V288A possibly damaging Het
Or7g32 T C 9: 19,408,844 (GRCm39) S267P probably damaging Het
Otof T C 5: 30,552,005 (GRCm39) D313G probably damaging Het
Paqr5 T C 9: 61,880,072 (GRCm39) D74G probably benign Het
Pigq A G 17: 26,153,580 (GRCm39) V365A unknown Het
Podn A T 4: 107,875,002 (GRCm39) N588K probably benign Het
Polr3b G A 10: 84,458,355 (GRCm39) G9R probably benign Het
Ryr2 C T 13: 11,767,168 (GRCm39) V1241I probably benign Het
Sar1b G A 11: 51,682,181 (GRCm39) A170T probably benign Het
Slc22a17 T C 14: 55,149,716 (GRCm39) T191A probably benign Het
Slc35f3 CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC 8: 127,115,779 (GRCm39) unknown Het
Slco6d1 A T 1: 98,349,082 (GRCm39) D51V possibly damaging Het
Snx16 G A 3: 10,500,541 (GRCm39) R143* probably null Het
Sytl2 T A 7: 89,998,055 (GRCm39) L19Q probably damaging Het
Tmcc3 A G 10: 94,418,174 (GRCm39) E345G possibly damaging Het
Ttn C T 2: 76,555,998 (GRCm39) A30336T probably damaging Het
Vmn1r44 A G 6: 89,870,401 (GRCm39) D49G probably benign Het
Vps35l C T 7: 118,403,340 (GRCm39) P628S probably benign Het
Vps41 T A 13: 19,048,204 (GRCm39) D801E probably benign Het
Wif1 G A 10: 120,932,554 (GRCm39) E311K probably benign Het
Zfp513 G T 5: 31,357,759 (GRCm39) R207S possibly damaging Het
Zfp52 C A 17: 21,781,615 (GRCm39) H488N probably damaging Het
Zfp738 A G 13: 67,817,619 (GRCm39) Y791H probably damaging Het
Other mutations in Proser1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02035:Proser1 APN 3 53,386,251 (GRCm39) missense probably benign 0.00
IGL02217:Proser1 APN 3 53,378,912 (GRCm39) missense probably damaging 0.96
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
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
Predicted Primers PCR Primer
(F):5'- ACAGTCTCCGTTAGCTACCC -3'
(R):5'- CCGGTAGAGGGAAACTATTAGTC -3'

Sequencing Primer
(F):5'- GTTAGCTACCCCCTCCACGG -3'
(R):5'- CTATTAGTCAATGAAGTGAAAGGGG -3'
Posted On 2019-10-07