Incidental Mutation 'R7201:Prc1'
ID 560306
Institutional Source Beutler Lab
Gene Symbol Prc1
Ensembl Gene ENSMUSG00000038943
Gene Name protein regulator of cytokinesis 1
Synonyms D7Ertd348e
MMRRC Submission 045279-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7201 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 79944198-79966007 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79960837 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 457 (Q457R)
Ref Sequence ENSEMBL: ENSMUSP00000129675 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047362] [ENSMUST00000047558] [ENSMUST00000163812] [ENSMUST00000172781] [ENSMUST00000173824] [ENSMUST00000174172] [ENSMUST00000174199]
AlphaFold Q99K43
Predicted Effect probably benign
Transcript: ENSMUST00000047362
SMART Domains Protein: ENSMUSP00000048043
Gene: ENSMUSG00000038930

DomainStartEndE-ValueType
low complexity region 10 18 N/A INTRINSIC
Pfam:RCC1 179 228 2.9e-17 PFAM
Pfam:RCC1_2 215 244 1.3e-10 PFAM
Pfam:RCC1 231 316 7.8e-9 PFAM
Pfam:RCC1_2 303 332 3.3e-10 PFAM
Pfam:RCC1 319 370 4.1e-13 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000047558
AA Change: Q457R

PolyPhen 2 Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000043379
Gene: ENSMUSG00000038943
AA Change: Q457R

DomainStartEndE-ValueType
internal_repeat_1 22 36 1.45e-5 PROSPERO
Pfam:MAP65_ASE1 37 602 5.3e-172 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000163812
AA Change: Q457R

PolyPhen 2 Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000129675
Gene: ENSMUSG00000038943
AA Change: Q457R

DomainStartEndE-ValueType
internal_repeat_1 22 36 1.51e-5 PROSPERO
Pfam:MAP65_ASE1 37 605 1.9e-173 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000172781
AA Change: Q20R

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000133618
Gene: ENSMUSG00000038943
AA Change: Q20R

DomainStartEndE-ValueType
Pfam:MAP65_ASE1 1 150 2.1e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173170
SMART Domains Protein: ENSMUSP00000133817
Gene: ENSMUSG00000038943

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: Q457R

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000133910
Gene: ENSMUSG00000038943
AA Change: Q457R

DomainStartEndE-ValueType
internal_repeat_1 22 36 8.71e-6 PROSPERO
Pfam:MAP65_ASE1 37 565 6e-168 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000134262
Gene: ENSMUSG00000038943
AA Change: Q86R

DomainStartEndE-ValueType
Pfam:MAP65_ASE1 1 244 1.9e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174111
Predicted Effect possibly damaging
Transcript: ENSMUST00000174172
AA Change: Q457R

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000133387
Gene: ENSMUSG00000038943
AA Change: Q457R

DomainStartEndE-ValueType
Pfam:MAP65_ASE1 34 615 2.9e-167 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174199
AA Change: Q416R

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000133295
Gene: ENSMUSG00000038943
AA Change: Q416R

DomainStartEndE-ValueType
Pfam:MAP65_ASE1 7 524 8.1e-158 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174599
Meta Mutation Damage Score 0.1039 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 99% (80/81)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A G 11: 84,153,300 (GRCm39) T903A probably benign Het
Acin1 A T 14: 54,902,356 (GRCm39) S479T possibly damaging Het
Actr6 A T 10: 89,548,374 (GRCm39) D370E probably benign Het
Adgrl3 T C 5: 81,872,069 (GRCm39) F921S probably damaging Het
Ankmy1 A T 1: 92,814,546 (GRCm39) H320Q possibly damaging Het
Arhgef5 C T 6: 43,250,166 (GRCm39) Q306* probably null Het
Art4 A T 6: 136,831,547 (GRCm39) V198E probably benign Het
Asph G A 4: 9,474,917 (GRCm39) R686W probably damaging Het
Atg7 A G 6: 114,754,018 (GRCm39) H724R probably damaging Het
BC034090 A G 1: 155,117,680 (GRCm39) V146A probably damaging Het
Bcl2a1d T A 9: 88,613,639 (GRCm39) Q45L probably damaging Het
Bmal1 T A 7: 112,884,349 (GRCm39) M122K probably damaging Het
Cd28 G T 1: 60,802,332 (GRCm39) E84* probably null Het
Ceacam3 G A 7: 16,892,163 (GRCm39) W302* probably null Het
Cerkl T C 2: 79,163,934 (GRCm39) N462S probably benign Het
Cisd2 A T 3: 135,116,974 (GRCm39) L39H probably damaging Het
Col11a1 C A 3: 113,883,806 (GRCm39) T225K unknown Het
Col15a1 A T 4: 47,307,752 (GRCm39) Y1178F possibly damaging Het
Cul4a T C 8: 13,192,991 (GRCm39) S630P probably damaging Het
Cyp2c38 T A 19: 39,390,220 (GRCm39) I327F probably damaging Het
Cyp3a25 A C 5: 145,928,257 (GRCm39) S263A probably benign Het
Cyp3a25 T A 5: 145,939,868 (GRCm39) L46F probably benign Het
Dmrta1 T A 4: 89,580,408 (GRCm39) L456* probably null Het
Dnah12 T C 14: 26,536,579 (GRCm39) L2165P probably benign Het
Dsg1a C A 18: 20,461,368 (GRCm39) S253R probably damaging Het
Egln2 A C 7: 26,859,744 (GRCm39) I323S probably damaging Het
Fam171b A G 2: 83,708,574 (GRCm39) T359A probably damaging Het
Fcgr2b G T 1: 170,790,966 (GRCm39) Q276K probably benign Het
Fcrl2 C T 3: 87,159,934 (GRCm39) C440Y probably damaging Het
Fmnl2 T C 2: 52,963,666 (GRCm39) V266A unknown Het
Glo1 A T 17: 30,816,828 (GRCm39) D109E probably benign Het
Grin3b A G 10: 79,809,912 (GRCm39) R473G possibly damaging Het
Ica1 G A 6: 8,644,015 (GRCm39) L425F probably damaging Het
Iho1 A T 9: 108,281,974 (GRCm39) D571E probably damaging Het
Ilrun A C 17: 28,013,044 (GRCm39) probably null Het
Kcnq5 T C 1: 21,473,099 (GRCm39) E716G possibly damaging Het
Klra17 A T 6: 129,850,306 (GRCm39) I48K possibly damaging Het
Lrrc66 G T 5: 73,787,240 (GRCm39) Q37K probably benign Het
Ly6a T A 15: 74,868,325 (GRCm39) T55S probably benign Het
Lyst T A 13: 13,883,885 (GRCm39) Y2924* probably null Het
Lyzl6 A G 11: 103,522,177 (GRCm39) Y140H probably benign Het
Mak T C 13: 41,204,916 (GRCm39) I141V possibly damaging Het
Mapk7 A G 11: 61,379,998 (GRCm39) I789T probably benign Het
Mgat4f A G 1: 134,318,206 (GRCm39) D326G possibly damaging Het
Mrpl4 T C 9: 20,918,634 (GRCm39) I123T probably benign Het
Mup18 G C 4: 61,591,573 (GRCm39) probably null Het
Myef2 T C 2: 124,938,082 (GRCm39) probably null Het
Myh7 T C 14: 55,228,402 (GRCm39) T235A possibly damaging Het
Myo18b C T 5: 112,863,325 (GRCm39) C2171Y probably damaging Het
Nat8 A T 6: 85,807,877 (GRCm39) Y85* probably null Het
Nyap1 A T 5: 137,734,524 (GRCm39) S170T probably damaging Het
Ogfr AGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG AGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG 2: 180,236,887 (GRCm39) probably benign Het
Or10ah1-ps1 A G 5: 143,123,553 (GRCm39) Y157H probably damaging Het
Or1e32 A G 11: 73,705,167 (GRCm39) V247A probably benign Het
Or51a25 T A 7: 102,373,692 (GRCm39) I2F probably benign Het
Papss1 T C 3: 131,305,687 (GRCm39) L244P probably damaging Het
Pibf1 A T 14: 99,433,844 (GRCm39) D597V probably damaging Het
Pmpcb T A 5: 21,942,177 (GRCm39) M1K probably null Het
Ppwd1 G A 13: 104,343,680 (GRCm39) P575L probably damaging Het
Pramel17 T A 4: 101,695,338 (GRCm39) probably null Het
Prdm10 T C 9: 31,227,602 (GRCm39) V69A possibly damaging Het
Prkdc A G 16: 15,516,667 (GRCm39) I1014V probably benign Het
Rab3gap2 A G 1: 184,999,388 (GRCm39) Y999C probably damaging Het
Robo3 G A 9: 37,335,626 (GRCm39) Q539* probably null Het
Rps12 A G 10: 23,661,129 (GRCm39) Y127H probably benign Het
Sar1b A G 11: 51,679,079 (GRCm39) D116G probably benign Het
Selenbp2 C T 3: 94,609,664 (GRCm39) P294L probably benign Het
Slc6a2 T C 8: 93,722,300 (GRCm39) Y516H probably damaging Het
Slit2 A G 5: 48,394,627 (GRCm39) N673S probably null Het
Snap91 A T 9: 86,672,199 (GRCm39) probably null Het
Spata31h1 T C 10: 82,127,461 (GRCm39) M1850V probably benign Het
Srpk2 A G 5: 23,712,626 (GRCm39) F653L possibly damaging Het
Supt5 A T 7: 28,016,213 (GRCm39) S824T probably benign Het
Taar7a A G 10: 23,868,358 (GRCm39) V341A probably benign Het
Tmem52 G A 4: 155,554,778 (GRCm39) G134R probably damaging Het
Ush2a A G 1: 188,606,951 (GRCm39) T3949A probably benign Het
Usp32 GAACAAGTCCACAACAA GAACAA 11: 84,913,681 (GRCm39) probably null Het
Vmn1r173 A T 7: 23,401,583 (GRCm39) probably benign Het
Vmn2r118 G A 17: 55,915,496 (GRCm39) R485* probably null Het
Vwce A G 19: 10,615,479 (GRCm39) E120G possibly damaging Het
Zfp143 T C 7: 109,692,287 (GRCm39) V566A possibly damaging 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
R6174:Prc1 UTSW 7 79,954,544 (GRCm39) missense probably benign 0.02
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
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'- AGCAATTAGAGTGGAGCTGC -3'
(R):5'- CTGACTCTCACCATAAGCTGC -3'

Sequencing Primer
(F):5'- AGGGTCACTGAACAACTG -3'
(R):5'- GCTGCTACTCAACAGTCAAGTG -3'
Posted On 2019-06-26