Incidental Mutation 'R6174:Prc1'
ID 488195
Institutional Source Beutler Lab
Gene Symbol Prc1
Ensembl Gene ENSMUSG00000038943
Gene Name protein regulator of cytokinesis 1
Synonyms D7Ertd348e
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6174 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 79944198-79966007 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 79954544 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 165 (S165N)
Ref Sequence ENSEMBL: ENSMUSP00000133295 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047558] [ENSMUST00000163812] [ENSMUST00000173824] [ENSMUST00000174199] [ENSMUST00000174172]
AlphaFold Q99K43
Predicted Effect probably benign
Transcript: ENSMUST00000047558
AA Change: S206N

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000043379
Gene: ENSMUSG00000038943
AA Change: S206N

DomainStartEndE-ValueType
internal_repeat_1 22 36 1.45e-5 PROSPERO
Pfam:MAP65_ASE1 37 602 5.3e-172 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130888
Predicted Effect probably benign
Transcript: ENSMUST00000163812
AA Change: S206N

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000129675
Gene: ENSMUSG00000038943
AA Change: S206N

DomainStartEndE-ValueType
internal_repeat_1 22 36 1.51e-5 PROSPERO
Pfam:MAP65_ASE1 37 605 1.9e-173 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172911
Predicted Effect unknown
Transcript: ENSMUST00000173170
AA Change: S23N
SMART Domains Protein: ENSMUSP00000133817
Gene: ENSMUSG00000038943
AA Change: S23N

DomainStartEndE-ValueType
Pfam:MAP65_ASE1 1 189 2.1e-64 PFAM
Pfam:MAP65_ASE1 187 235 1.7e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173824
AA Change: S206N

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000133910
Gene: ENSMUSG00000038943
AA Change: S206N

DomainStartEndE-ValueType
internal_repeat_1 22 36 8.71e-6 PROSPERO
Pfam:MAP65_ASE1 37 565 6e-168 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174199
AA Change: S165N

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000133295
Gene: ENSMUSG00000038943
AA Change: S165N

DomainStartEndE-ValueType
Pfam:MAP65_ASE1 7 524 8.1e-158 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174172
AA Change: S206N

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000133387
Gene: ENSMUSG00000038943
AA Change: S206N

DomainStartEndE-ValueType
Pfam:MAP65_ASE1 34 615 2.9e-167 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173914
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174254
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206178
Predicted Effect probably benign
Transcript: ENSMUST00000174051
SMART Domains Protein: ENSMUSP00000134262
Gene: ENSMUSG00000038943

DomainStartEndE-ValueType
Pfam:MAP65_ASE1 1 244 1.9e-55 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is involved in cytokinesis. The protein is present at high levels during the S and G2/M phases of mitosis but its levels drop dramatically when the cell exits mitosis and enters the G1 phase. It is located in the nucleus during interphase, becomes associated with mitotic spindles in a highly dynamic manner during mitosis, and localizes to the cell mid-body during cytokinesis. This protein has been shown to be a substrate of several cyclin-dependent kinases (CDKs). It is necessary for polarizing parallel microtubules and concentrating the factors responsible for contractile ring assembly. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik T A 6: 91,919,517 (GRCm39) D725E probably damaging Het
Bco1 T A 8: 117,840,273 (GRCm39) Y264N probably damaging Het
Cd109 G A 9: 78,572,828 (GRCm39) probably null Het
Cdc45 T C 16: 18,613,454 (GRCm39) probably null Het
Ckap5 A G 2: 91,398,564 (GRCm39) E578G probably benign Het
Cracr2b T A 7: 141,044,749 (GRCm39) L193Q probably damaging Het
Dmxl2 G A 9: 54,301,011 (GRCm39) L2367F probably damaging Het
Dop1b T G 16: 93,563,110 (GRCm39) D871E probably damaging Het
Emc1 T C 4: 139,093,842 (GRCm39) Y651H probably benign Het
Enox1 T C 14: 77,745,627 (GRCm39) S41P possibly damaging Het
Fcgbpl1 A G 7: 27,839,384 (GRCm39) Y399C probably damaging Het
Foxa1 A G 12: 57,589,686 (GRCm39) L178P probably damaging Het
Gm57859 C A 11: 113,579,801 (GRCm39) H399N possibly damaging Het
Grm7 T A 6: 111,223,258 (GRCm39) Y433N probably benign Het
Gsta5 T A 9: 78,211,737 (GRCm39) Y166* probably null Het
Gtf3c2 G A 5: 31,315,555 (GRCm39) R813C probably damaging Het
H4c9 T A 13: 22,225,247 (GRCm39) T83S probably benign Het
Hacd3 T C 9: 64,912,909 (GRCm39) E117G probably damaging Het
Hmcn1 G A 1: 150,522,535 (GRCm39) T3455M probably benign Het
Itga6 A G 2: 71,664,053 (GRCm39) I61V possibly damaging Het
Jaml T C 9: 45,000,071 (GRCm39) L81P probably damaging Het
Loxhd1 T C 18: 77,499,874 (GRCm39) F782S probably damaging Het
Lrp1b T C 2: 41,339,275 (GRCm39) H742R probably benign Het
Macrod2 G T 2: 140,242,895 (GRCm39) M1I probably null Het
Mcf2l G A 8: 13,063,849 (GRCm39) W1020* probably null Het
Msgn1 A G 12: 11,258,924 (GRCm39) L9P probably damaging Het
Ngdn C A 14: 55,259,556 (GRCm39) S202R probably benign Het
Notch1 C T 2: 26,375,454 (GRCm39) G50R possibly damaging Het
Or14c46 A T 7: 85,918,009 (GRCm39) D329E probably benign Het
Or1a1b A T 11: 74,097,466 (GRCm39) I192N probably damaging Het
Or2d2b A T 7: 106,705,714 (GRCm39) M118K probably damaging Het
Or5d14 A T 2: 87,880,646 (GRCm39) C107* probably null Het
Osbpl10 A G 9: 114,938,555 (GRCm39) S211G probably benign Het
Pabpc6 G A 17: 9,887,084 (GRCm39) A489V probably benign Het
Pcdhb13 A T 18: 37,576,474 (GRCm39) D284V possibly damaging Het
Pde6c T C 19: 38,128,677 (GRCm39) S214P possibly damaging Het
Pofut1 C T 2: 153,101,536 (GRCm39) H192Y probably damaging Het
Pou3f2 T C 4: 22,486,960 (GRCm39) D391G possibly damaging Het
Prex1 A G 2: 166,414,883 (GRCm39) V304A probably benign Het
Ptpru T C 4: 131,513,065 (GRCm39) I881V probably benign Het
Radil A G 5: 142,472,870 (GRCm39) S847P probably benign Het
Rimklb A G 6: 122,433,371 (GRCm39) S317P probably damaging Het
Sdhc A T 1: 170,966,271 (GRCm39) L78* probably null Het
Skint6 T A 4: 112,696,510 (GRCm39) I1042F possibly damaging Het
Slc1a6 T A 10: 78,637,741 (GRCm39) D422E probably damaging Het
Slc29a1 A T 17: 45,900,854 (GRCm39) H71Q probably damaging Het
Slfn14 A T 11: 83,167,429 (GRCm39) D695E probably damaging Het
Spg11 A T 2: 121,917,286 (GRCm39) probably null Het
Srgap2 A G 1: 131,217,354 (GRCm39) V986A probably benign Het
Stab1 A T 14: 30,884,476 (GRCm39) C172* probably null Het
Tigd4 A G 3: 84,502,574 (GRCm39) H497R probably benign Het
Ubn2 G A 6: 38,438,471 (GRCm39) G60D probably damaging Het
Uckl1 C T 2: 181,214,866 (GRCm39) probably null Het
Vmn2r24 A T 6: 123,793,236 (GRCm39) K854N probably benign Het
Vps13d G A 4: 144,701,763 (GRCm39) Q3193* probably null Het
Wdr26 G A 1: 181,019,433 (GRCm39) L315F probably damaging Het
Zc3h8 C A 2: 128,785,775 (GRCm39) E24* probably null Het
Zfp39 A G 11: 58,782,213 (GRCm39) V183A probably benign Het
Zfp608 C A 18: 55,121,616 (GRCm39) probably benign Het
Other mutations in Prc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00979:Prc1 APN 7 79,957,444 (GRCm39) critical splice donor site probably null
IGL02342:Prc1 APN 7 79,959,190 (GRCm39) missense probably damaging 1.00
IGL03058:Prc1 APN 7 79,950,873 (GRCm39) missense probably benign 0.05
R0026:Prc1 UTSW 7 79,960,809 (GRCm39) unclassified probably benign
R0315:Prc1 UTSW 7 79,963,284 (GRCm39) missense probably damaging 0.99
R0453:Prc1 UTSW 7 79,962,850 (GRCm39) missense probably damaging 1.00
R2101:Prc1 UTSW 7 79,962,032 (GRCm39) missense probably benign 0.38
R2857:Prc1 UTSW 7 79,961,969 (GRCm39) missense probably damaging 0.99
R4237:Prc1 UTSW 7 79,960,964 (GRCm39) unclassified probably benign
R4238:Prc1 UTSW 7 79,960,964 (GRCm39) unclassified probably benign
R4240:Prc1 UTSW 7 79,960,964 (GRCm39) unclassified probably benign
R4300:Prc1 UTSW 7 79,960,964 (GRCm39) unclassified probably benign
R4745:Prc1 UTSW 7 79,962,911 (GRCm39) missense probably benign 0.10
R5227:Prc1 UTSW 7 79,962,927 (GRCm39) missense probably damaging 1.00
R5574:Prc1 UTSW 7 79,944,290 (GRCm39) unclassified probably benign
R6269:Prc1 UTSW 7 79,959,175 (GRCm39) missense probably damaging 0.99
R7060:Prc1 UTSW 7 79,954,121 (GRCm39) missense probably benign 0.00
R7201:Prc1 UTSW 7 79,960,837 (GRCm39) missense possibly damaging 0.65
R7266:Prc1 UTSW 7 79,957,405 (GRCm39) missense possibly damaging 0.78
R7491:Prc1 UTSW 7 79,959,239 (GRCm39) splice site probably null
R7498:Prc1 UTSW 7 79,962,898 (GRCm39) missense possibly damaging 0.83
R7528:Prc1 UTSW 7 79,950,183 (GRCm39) critical splice donor site probably null
R7911:Prc1 UTSW 7 79,954,120 (GRCm39) missense probably benign
R7991:Prc1 UTSW 7 79,961,969 (GRCm39) missense possibly damaging 0.94
R8079:Prc1 UTSW 7 79,954,515 (GRCm39) missense possibly damaging 0.87
R9635:Prc1 UTSW 7 79,962,047 (GRCm39) missense probably benign
Z1176:Prc1 UTSW 7 79,956,233 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTGAAACCTCATAGACCTTTAGG -3'
(R):5'- ACTGTGGATAGGGCTCAGTG -3'

Sequencing Primer
(F):5'- GAGGCGTGAAGAATTTGTC -3'
(R):5'- GTCTCAACAAGGTGTACAGCTCTAG -3'
Posted On 2017-10-10