Mutagenetix > Incidental Mutation

Incidental Mutation 'R2857:Prc1'

252477

Institutional Source

Beutler Lab

Gene Symbol

Prc1

Ensembl Gene

ENSMUSG00000038943

Gene Name

protein regulator of cytokinesis 1

Synonyms

D7Ertd348e

MMRRC Submission

040447-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2857 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79944198-79966007 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79961969 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 52 (N52S)

Ref Sequence

ENSEMBL: ENSMUSP00000133618 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047362] [ENSMUST00000047558] [ENSMUST00000121882] [ENSMUST00000174172] [ENSMUST00000163812] [ENSMUST00000172781] [ENSMUST00000173824] [ENSMUST00000174199]

AlphaFold

Q99K43

Predicted Effect

probably benign
Transcript: ENSMUST00000047362

SMART Domains

Protein: ENSMUSP00000048043
Gene: ENSMUSG00000038930

Domain	Start	End	E-Value	Type
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

probably benign
Transcript: ENSMUST00000047558
AA Change: N486S

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000043379
Gene: ENSMUSG00000038943
AA Change: N486S

Domain	Start	End	E-Value	Type
internal_repeat_1	22	36	1.45e-5	PROSPERO
Pfam:MAP65_ASE1	37	602	5.3e-172	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121882

SMART Domains

Protein: ENSMUSP00000113273
Gene: ENSMUSG00000038930

Domain	Start	End	E-Value	Type
low complexity region	10	18	N/A	INTRINSIC
Pfam:RCC1	179	228	7.4e-18	PFAM
Pfam:RCC1_2	216	244	5.5e-10	PFAM
Pfam:RCC1_2	304	332	6.2e-10	PFAM
Pfam:RCC1	319	370	1.3e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123109

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130888

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144685

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148001

Predicted Effect

probably benign
Transcript: ENSMUST00000174172
AA Change: N489S

PolyPhen 2 Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000133387
Gene: ENSMUSG00000038943
AA Change: N489S

Domain	Start	End	E-Value	Type
Pfam:MAP65_ASE1	34	615	2.9e-167	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000174111
AA Change: N27S

Predicted Effect

probably benign
Transcript: ENSMUST00000163812
AA Change: N489S

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000129675
Gene: ENSMUSG00000038943
AA Change: N489S

Domain	Start	End	E-Value	Type
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: N52S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133618
Gene: ENSMUSG00000038943
AA Change: N52S

Domain	Start	End	E-Value	Type
Pfam:MAP65_ASE1	1	150	2.1e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172911

Predicted Effect

probably benign
Transcript: ENSMUST00000173824
AA Change: N489S

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000133910
Gene: ENSMUSG00000038943
AA Change: N489S

Domain	Start	End	E-Value	Type
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: N448S

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000133295
Gene: ENSMUSG00000038943
AA Change: N448S

Domain	Start	End	E-Value	Type
Pfam:MAP65_ASE1	7	524	8.1e-158	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000174051
AA Change: N118S

SMART Domains

Protein: ENSMUSP00000134262
Gene: ENSMUSG00000038943
AA Change: N118S

Domain	Start	End	E-Value	Type
Pfam:MAP65_ASE1	1	244	1.9e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173170

SMART Domains

Protein: ENSMUSP00000133817
Gene: ENSMUSG00000038943

Domain	Start	End	E-Value	Type
Pfam:MAP65_ASE1	1	189	2.1e-64	PFAM
Pfam:MAP65_ASE1	187	235	1.7e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174599

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.6%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330087D11Rik	A	T	7: 29,273,303 (GRCm39)		noncoding transcript	Het
Amfr	A	T	8: 94,731,842 (GRCm39)	N11K	probably damaging	Het
Bpifa6	G	A	2: 153,831,194 (GRCm39)	M253I	probably benign	Het
C330018D20Rik	A	G	18: 57,095,531 (GRCm39)	L18P	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cdh23	C	T	10: 60,218,432 (GRCm39)		probably null	Het
Ceacam1	T	A	7: 25,173,442 (GRCm39)	I249F	probably damaging	Het
Cfap54	C	T	10: 92,881,144 (GRCm39)	R348Q	probably damaging	Het
Cfap91	A	C	16: 38,123,075 (GRCm39)	L651R	probably damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Cuzd1	C	T	7: 130,917,863 (GRCm39)	V246M	probably damaging	Het
Ehd2	A	T	7: 15,698,054 (GRCm39)	V61E	probably damaging	Het
Erich5	C	T	15: 34,471,560 (GRCm39)	T263I	probably damaging	Het
Fbxo36	A	G	1: 84,874,316 (GRCm39)	K104R	probably benign	Het
Fibin	C	T	2: 110,192,542 (GRCm39)	R200H	probably damaging	Het
Gad2	A	C	2: 22,563,987 (GRCm39)	M397L	probably benign	Het
Garin3	T	C	11: 46,296,039 (GRCm39)	I137T	probably damaging	Het
Iqgap3	C	A	3: 88,014,903 (GRCm39)	S873*	probably null	Het
Kcnh8	A	G	17: 53,284,961 (GRCm39)	D977G	probably benign	Het
Mau2	T	C	8: 70,472,474 (GRCm39)	M570V	probably benign	Het
Mrgprb4	T	A	7: 47,848,084 (GRCm39)	R281S	possibly damaging	Het
Mthfd1	T	C	12: 76,335,699 (GRCm39)	Y258H	probably damaging	Het
Nexn	C	T	3: 151,953,680 (GRCm39)	E247K	probably damaging	Het
Or11g27	T	A	14: 50,770,897 (GRCm39)	N9K	probably benign	Het
Or3a10	C	T	11: 73,935,653 (GRCm39)	G149D	possibly damaging	Het
Or9e1	T	A	11: 58,732,708 (GRCm39)	V256E	probably benign	Het
Phrf1	T	A	7: 140,839,593 (GRCm39)		probably benign	Het
Psd	G	C	19: 46,312,859 (GRCm39)	S170R	probably benign	Het
Riok1	T	C	13: 38,233,053 (GRCm39)	F229L	probably damaging	Het
Slco1a7	A	G	6: 141,690,264 (GRCm39)	V163A	probably benign	Het
Stat2	A	G	10: 128,112,770 (GRCm39)		probably null	Het
Sycp3	A	G	10: 88,303,234 (GRCm39)	E166G	probably damaging	Het
Szt2	G	A	4: 118,226,599 (GRCm39)	T510I	probably damaging	Het
Trank1	A	T	9: 111,196,001 (GRCm39)	T1342S	probably benign	Het
Trav3-1	C	A	14: 52,818,515 (GRCm39)	A63E	probably benign	Het
Trim34b	A	T	7: 103,985,439 (GRCm39)	N358I	probably benign	Het
Trmt11	G	C	10: 30,423,744 (GRCm39)	P387R	probably damaging	Het
Vmn2r82	T	A	10: 79,217,090 (GRCm39)	I474N	probably damaging	Het
Vrk2	C	A	11: 26,433,324 (GRCm39)	S286I	possibly damaging	Het
Wdfy3	A	T	5: 102,023,796 (GRCm39)	I2451N	probably benign	Het
Zfp326	G	A	5: 106,036,395 (GRCm39)	R102H	probably benign	Het

Other mutations in Prc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- GTAAGTTTATAGTGCCATCAGGTG -3'
(R):5'- CCAGCCTAATTCTCAGATTCTCAAG -3'

Sequencing Primer
(F):5'- CCATCAGGTGGCTCTGAAAC -3'
(R):5'- AGCCATGATCATAGAAACTAGACTG -3'

Posted On

2014-12-04