Incidental Mutation 'R2297:Pimreg'
ID 245209
Institutional Source Beutler Lab
Gene Symbol Pimreg
Ensembl Gene ENSMUSG00000020808
Gene Name PICALM interacting mitotic regulator
Synonyms CATS, Fam64a, 6720460F02Rik, 2610008F03Rik
MMRRC Submission 040296-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R2297 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 71932867-71938197 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 71933906 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 11 (S11P)
Ref Sequence ENSEMBL: ENSMUSP00000119424 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021164] [ENSMUST00000075258] [ENSMUST00000108508] [ENSMUST00000122871] [ENSMUST00000125655]
AlphaFold Q8BFY7
Predicted Effect probably damaging
Transcript: ENSMUST00000021164
AA Change: S11P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000021164
Gene: ENSMUSG00000020808
AA Change: S11P

DomainStartEndE-ValueType
Pfam:DUF1466 1 224 1.8e-104 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000075258
SMART Domains Protein: ENSMUSP00000074737
Gene: ENSMUSG00000040543

DomainStartEndE-ValueType
low complexity region 4 17 N/A INTRINSIC
low complexity region 25 37 N/A INTRINSIC
low complexity region 128 140 N/A INTRINSIC
Blast:DDHD 141 361 1e-105 BLAST
DDHD 390 594 1.49e-91 SMART
LNS2 739 870 2.12e-55 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108508
SMART Domains Protein: ENSMUSP00000104148
Gene: ENSMUSG00000040543

DomainStartEndE-ValueType
low complexity region 4 17 N/A INTRINSIC
low complexity region 25 37 N/A INTRINSIC
low complexity region 112 124 N/A INTRINSIC
Blast:DDHD 125 345 1e-106 BLAST
DDHD 374 578 1.49e-91 SMART
LNS2 723 854 2.12e-55 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000122871
AA Change: S11P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000123099
Gene: ENSMUSG00000020808
AA Change: S11P

DomainStartEndE-ValueType
Pfam:DUF1466 1 77 1.3e-47 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000125655
AA Change: S11P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000119424
Gene: ENSMUSG00000020808
AA Change: S11P

DomainStartEndE-ValueType
Pfam:DUF1466 1 116 1.4e-75 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127369
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133880
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921536K21Rik G A 11: 3,840,127 (GRCm39) A90V probably damaging Het
Aco2 A T 15: 81,788,109 (GRCm39) D114V probably damaging Het
Cop1 C T 1: 159,080,124 (GRCm39) H185Y possibly damaging Het
Cyp2a12 A G 7: 26,734,057 (GRCm39) D330G possibly damaging Het
Dcaf6 T C 1: 165,227,431 (GRCm39) Y232C probably damaging Het
Ddx42 T G 11: 106,133,765 (GRCm39) D580E probably damaging Het
Dtl A G 1: 191,273,207 (GRCm39) V567A probably benign Het
Fem1c T C 18: 46,639,228 (GRCm39) K258R possibly damaging Het
Galnt12 T A 4: 47,113,834 (GRCm39) V84D probably damaging Het
Grm1 T G 10: 10,956,158 (GRCm39) D42A probably benign Het
H3f3a C T 1: 180,630,703 (GRCm39) R117H probably benign Het
Ncapd3 C T 9: 26,952,797 (GRCm39) R109* probably null Het
Or5c1 A G 2: 37,222,155 (GRCm39) N132S probably benign Het
Ppp1r16b G A 2: 158,603,286 (GRCm39) E404K possibly damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Slc6a11 A G 6: 114,108,386 (GRCm39) N50S probably benign Het
Stab2 T A 10: 86,790,338 (GRCm39) probably null Het
Tmem132d T C 5: 128,345,608 (GRCm39) T305A possibly damaging Het
Tnfrsf13b A G 11: 61,038,271 (GRCm39) T185A probably benign Het
Trdn C A 10: 33,211,008 (GRCm39) P400Q probably damaging Het
Zfp119b T A 17: 56,246,355 (GRCm39) Y277F possibly damaging Het
Other mutations in Pimreg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01946:Pimreg APN 11 71,935,804 (GRCm39) splice site probably benign
R0751:Pimreg UTSW 11 71,933,939 (GRCm39) missense probably benign 0.01
R1571:Pimreg UTSW 11 71,936,042 (GRCm39) missense possibly damaging 0.94
R1757:Pimreg UTSW 11 71,933,985 (GRCm39) missense possibly damaging 0.60
R3707:Pimreg UTSW 11 71,937,158 (GRCm39) unclassified probably benign
R4494:Pimreg UTSW 11 71,935,964 (GRCm39) missense probably benign 0.05
R6030:Pimreg UTSW 11 71,936,576 (GRCm39) missense probably benign 0.13
R6030:Pimreg UTSW 11 71,936,576 (GRCm39) missense probably benign 0.13
R8884:Pimreg UTSW 11 71,936,513 (GRCm39) missense possibly damaging 0.85
Z1186:Pimreg UTSW 11 71,935,979 (GRCm39) missense probably damaging 0.99
Z1186:Pimreg UTSW 11 71,935,801 (GRCm39) critical splice acceptor site probably benign
Z1187:Pimreg UTSW 11 71,935,979 (GRCm39) missense probably damaging 0.99
Z1187:Pimreg UTSW 11 71,935,801 (GRCm39) critical splice acceptor site probably benign
Z1188:Pimreg UTSW 11 71,935,979 (GRCm39) missense probably damaging 0.99
Z1188:Pimreg UTSW 11 71,935,801 (GRCm39) critical splice acceptor site probably benign
Z1189:Pimreg UTSW 11 71,935,979 (GRCm39) missense probably damaging 0.99
Z1189:Pimreg UTSW 11 71,935,801 (GRCm39) critical splice acceptor site probably benign
Z1190:Pimreg UTSW 11 71,935,979 (GRCm39) missense probably damaging 0.99
Z1190:Pimreg UTSW 11 71,935,801 (GRCm39) critical splice acceptor site probably benign
Z1191:Pimreg UTSW 11 71,935,979 (GRCm39) missense probably damaging 0.99
Z1191:Pimreg UTSW 11 71,935,801 (GRCm39) critical splice acceptor site probably benign
Z1192:Pimreg UTSW 11 71,935,979 (GRCm39) missense probably damaging 0.99
Z1192:Pimreg UTSW 11 71,935,801 (GRCm39) critical splice acceptor site probably benign
Predicted Primers PCR Primer
(F):5'- ACCATGATGCCATTGGTCATC -3'
(R):5'- ACTTTCCAGGCGTTTCCAGG -3'

Sequencing Primer
(F):5'- TGGCATCCACAATTGCCC -3'
(R):5'- TTTCCAGGAGGGGCCGTTAC -3'
Posted On 2014-10-30