Mutagenetix > Incidental Mutation

Incidental Mutation 'R7060:Prc1'

548185

Institutional Source

Beutler Lab

Gene Symbol

Prc1

Ensembl Gene

ENSMUSG00000038943

Gene Name

protein regulator of cytokinesis 1

Synonyms

D7Ertd348e

MMRRC Submission

045157-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7060 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79944198-79966007 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79954121 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 53 (T53S)

Ref Sequence

ENSEMBL: ENSMUSP00000133295 (fasta)

Gene Model

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

AlphaFold

Q99K43

Predicted Effect

probably benign
Transcript: ENSMUST00000047558
AA Change: T94S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000043379
Gene: ENSMUSG00000038943
AA Change: T94S

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: ENSMUST00000163812
AA Change: T94S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000129675
Gene: ENSMUSG00000038943
AA Change: T94S

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 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: ENSMUST00000173824
AA Change: T94S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000133910
Gene: ENSMUSG00000038943
AA Change: T94S

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: ENSMUST00000174172
AA Change: T94S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000133387
Gene: ENSMUSG00000038943
AA Change: T94S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000174199
AA Change: T53S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000133295
Gene: ENSMUSG00000038943
AA Change: T53S

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

Meta Mutation Damage Score

0.0629

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

96% (78/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	T	A	9: 44,186,425 (GRCm39)	T535S	probably benign	Het
Adamts19	A	T	18: 58,970,712 (GRCm39)	R99*	probably null	Het
Alg6	C	T	4: 99,650,198 (GRCm39)	L473F	possibly damaging	Het
Ankar	A	T	1: 72,695,272 (GRCm39)	N893K	probably benign	Het
Ankrd54	G	A	15: 78,939,739 (GRCm39)	A183V	possibly damaging	Het
Anpep	G	T	7: 79,491,542 (GRCm39)	T153K	probably benign	Het
Arap1	A	G	7: 101,058,564 (GRCm39)		probably null	Het
Aspg	A	T	12: 112,089,387 (GRCm39)	T392S	probably benign	Het
B230307C23Rik	A	C	16: 97,811,331 (GRCm39)	R68S	probably benign	Het
Bdp1	G	C	13: 100,196,002 (GRCm39)	N1253K	probably damaging	Het
Ccrl2	G	A	9: 110,884,682 (GRCm39)	S272F	probably damaging	Het
Cdon	T	C	9: 35,398,205 (GRCm39)	L974P	probably damaging	Het
Celsr1	C	A	15: 85,916,856 (GRCm39)	E372D	probably benign	Het
Cers1	A	T	8: 70,768,555 (GRCm39)	M16L	possibly damaging	Het
Col2a1	G	T	15: 97,874,022 (GRCm39)	Q1387K	unknown	Het
Ddx39b	G	A	17: 35,471,726 (GRCm39)	V291M	probably damaging	Het
Dppa2	T	A	16: 48,136,076 (GRCm39)	S143T	probably benign	Het
Dpy19l1	A	T	9: 24,334,419 (GRCm39)	M583K	possibly damaging	Het
Eno3	A	T	11: 70,552,245 (GRCm39)	D299V	possibly damaging	Het
Epha8	C	T	4: 136,658,469 (GRCm39)	V969M	probably damaging	Het
Fcgbp	A	T	7: 27,791,358 (GRCm39)	H873L	probably benign	Het
Fhad1	CGG	CG	4: 141,645,602 (GRCm39)		probably null	Het
Fntb	A	C	12: 76,934,649 (GRCm39)	N173T	possibly damaging	Het
Gins2	T	A	8: 121,308,880 (GRCm39)	M125L	probably benign	Het
Gys1	G	A	7: 45,089,437 (GRCm39)	A199T	probably damaging	Het
Herpud1	C	A	8: 95,117,391 (GRCm39)	H116N	probably benign	Het
Hoga1	C	A	19: 42,048,685 (GRCm39)	Y134*	probably null	Het
Il10ra	A	G	9: 45,167,522 (GRCm39)	I343T	probably benign	Het
Inava	T	C	1: 136,147,935 (GRCm39)	K339R	possibly damaging	Het
Inpp5j	C	T	11: 3,450,133 (GRCm39)		probably null	Het
Itpkb	T	C	1: 180,160,695 (GRCm39)	S274P	probably damaging	Het
Kalrn	C	T	16: 34,177,418 (GRCm39)	C249Y	probably damaging	Het
Klhl35	G	C	7: 99,117,665 (GRCm39)	A70P	possibly damaging	Het
Lhx1	A	G	11: 84,411,108 (GRCm39)		probably null	Het
Lmbrd1	T	C	1: 24,732,047 (GRCm39)	V88A	probably benign	Het
Macc1	T	G	12: 119,411,190 (GRCm39)	L653V	probably damaging	Het
Madd	T	C	2: 91,007,452 (GRCm39)	D220G	probably damaging	Het
Mllt10	T	A	2: 18,164,371 (GRCm39)	H300Q	possibly damaging	Het
Mlxipl	G	A	5: 135,161,169 (GRCm39)	A363T	possibly damaging	Het
Mus81	G	T	19: 5,537,821 (GRCm39)	D78E	probably benign	Het
Mxd1	A	T	6: 86,630,141 (GRCm39)	L26M	probably damaging	Het
Nhsl1	C	T	10: 18,402,251 (GRCm39)	T1159M	probably damaging	Het
Nos1ap	A	G	1: 170,165,694 (GRCm39)	S190P	possibly damaging	Het
Nwd1	A	C	8: 73,393,322 (GRCm39)	D195A	probably damaging	Het
Or12d13	G	T	17: 37,647,352 (GRCm39)	T257N	probably benign	Het
Or6k4	A	T	1: 173,964,376 (GRCm39)	D22V	probably benign	Het
Or8c14-ps1	G	A	9: 38,101,392 (GRCm39)	V124I	probably damaging	Het
Or8k24	T	A	2: 86,216,569 (GRCm39)	R64S	possibly damaging	Het
Otof	T	C	5: 30,545,700 (GRCm39)	D500G	possibly damaging	Het
Pcgf5	T	A	19: 36,420,339 (GRCm39)	Y190*	probably null	Het
Pdcd11	C	T	19: 47,099,418 (GRCm39)	T839I	probably benign	Het
Ppard	G	C	17: 28,517,886 (GRCm39)	S318T	probably benign	Het
Ppfia2	A	G	10: 106,597,970 (GRCm39)	K178E	probably damaging	Het
Ppm1n	G	T	7: 19,013,187 (GRCm39)	R255S	probably damaging	Het
Ppp1r21	A	G	17: 88,887,972 (GRCm39)	Y693C	probably damaging	Het
Ppp2r5d	A	T	17: 46,998,279 (GRCm39)	V169E	possibly damaging	Het
Pwp2	A	C	10: 78,009,084 (GRCm39)		probably null	Het
Rab5c	G	A	11: 100,610,789 (GRCm39)	R40C	probably damaging	Het
Ring1	A	G	17: 34,242,364 (GRCm39)	C48R	probably damaging	Het
Rpap1	T	C	2: 119,604,043 (GRCm39)	D496G	probably damaging	Het
Rspo4	C	A	2: 151,714,998 (GRCm39)	Q212K	unknown	Het
Samd9l	T	A	6: 3,372,716 (GRCm39)	D1515V	probably damaging	Het
Serinc3	T	C	2: 163,478,879 (GRCm39)	T83A	probably benign	Het
Setd5	A	C	6: 113,094,343 (GRCm39)	D420A	probably damaging	Het
Sidt2	T	C	9: 45,864,544 (GRCm39)	T62A	possibly damaging	Het
Smarcal1	T	C	1: 72,652,101 (GRCm39)	V621A	probably damaging	Het
Srcin1	A	G	11: 97,464,711 (GRCm39)	L12P	probably damaging	Het
Stx18	G	A	5: 38,278,599 (GRCm39)	D165N	possibly damaging	Het
Sumf2	A	G	5: 129,883,341 (GRCm39)	K139E	possibly damaging	Het
Tdo2	A	T	3: 81,876,866 (GRCm39)	I102N	probably damaging	Het
Tdp1	T	A	12: 99,877,947 (GRCm39)	S410T	probably benign	Het
Tmem94	A	T	11: 115,683,764 (GRCm39)	I726F	probably damaging	Het
Ttc21a	A	G	9: 119,795,742 (GRCm39)	E1192G	probably damaging	Het
Ttc8	T	C	12: 98,909,726 (GRCm39)	I52T	probably benign	Het
Vmn2r99	A	T	17: 19,614,826 (GRCm39)	R849*	probably null	Het
Wwc1	T	C	11: 35,806,003 (GRCm39)	K77E	possibly damaging	Het
Xirp2	A	T	2: 67,345,952 (GRCm39)	E2731V	probably damaging	Het
Zfp1006	A	C	8: 129,945,613 (GRCm39)	I404R	probably benign	Het
Zfp423	G	A	8: 88,509,507 (GRCm39)	T258I	probably damaging	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
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
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'- GCCTTTGTCCCACTGTAAAGATG -3'
(R):5'- TCTTCTAAGGTGGGGACAGAG -3'

Sequencing Primer
(F):5'- AGTTGTAGACCACTGCACTG -3'
(R):5'- AGGTGCTGTCCACATCACAG -3'

Posted On

2019-05-13