Mutagenetix > Incidental Mutation

Incidental Mutation 'R7911:Prc1'

610510

Institutional Source

Beutler Lab

Gene Symbol

Prc1

Ensembl Gene

ENSMUSG00000038943

Gene Name

protein regulator of cytokinesis 1

Synonyms

D7Ertd348e

MMRRC Submission

045960-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7911 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79944198-79966007 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79954120 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 93 (D93E)

Ref Sequence

ENSEMBL: ENSMUSP00000129675 (fasta)

Gene Model

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

AlphaFold

Q99K43

Predicted Effect

probably benign
Transcript: ENSMUST00000047558
AA Change: D93E

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

SMART Domains

Protein: ENSMUSP00000043379
Gene: ENSMUSG00000038943
AA Change: D93E

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: D93E

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

SMART Domains

Protein: ENSMUSP00000129675
Gene: ENSMUSG00000038943
AA Change: D93E

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: D93E

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

SMART Domains

Protein: ENSMUSP00000133910
Gene: ENSMUSG00000038943
AA Change: D93E

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: D93E

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

SMART Domains

Protein: ENSMUSP00000133387
Gene: ENSMUSG00000038943
AA Change: D93E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000174199
AA Change: D52E

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

SMART Domains

Protein: ENSMUSP00000133295
Gene: ENSMUSG00000038943
AA Change: D52E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (67/67)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	T	C	5: 107,693,667 (GRCm39)	F95L	probably benign	Het
Abca3	C	G	17: 24,617,478 (GRCm39)	D1058E	probably damaging	Het
Abca7	C	A	10: 79,840,867 (GRCm39)	R919S	probably benign	Het
Abcc2	T	C	19: 43,792,109 (GRCm39)	S297P	probably benign	Het
Abcc8	A	G	7: 45,803,860 (GRCm39)	L438P	probably damaging	Het
Acbd6	C	A	1: 155,562,750 (GRCm39)	D250E	probably damaging	Het
Ankrd31	A	G	13: 97,015,608 (GRCm39)	N1626D	possibly damaging	Het
Arrdc4	C	T	7: 68,394,924 (GRCm39)	E112K	probably benign	Het
B3galnt1	T	A	3: 69,482,574 (GRCm39)	Y229F	probably damaging	Het
Calcrl	A	C	2: 84,181,575 (GRCm39)	I191S	probably damaging	Het
Camkmt	T	A	17: 85,759,866 (GRCm39)		probably null	Het
Card11	A	G	5: 140,867,755 (GRCm39)		probably null	Het
Cfap157	A	G	2: 32,668,219 (GRCm39)	L407P	probably damaging	Het
Cfap299	T	A	5: 98,885,567 (GRCm39)	M158K	possibly damaging	Het
Chst15	T	C	7: 131,872,251 (GRCm39)	Q10R	probably benign	Het
Ciao3	A	G	17: 25,999,372 (GRCm39)	E262G	probably benign	Het
Col26a1	A	G	5: 136,771,952 (GRCm39)	L424P	probably damaging	Het
Cryzl2	T	C	1: 157,299,925 (GRCm39)	M308T	probably benign	Het
Ctu2	T	C	8: 123,207,733 (GRCm39)	I403T	probably benign	Het
Ddhd2	A	G	8: 26,238,563 (GRCm39)		probably null	Het
Dmrt1	T	A	19: 25,580,692 (GRCm39)	L368Q	probably benign	Het
Dnah7b	C	A	1: 46,178,838 (GRCm39)	P837Q	probably damaging	Het
Drg2	T	A	11: 60,355,001 (GRCm39)	L283Q	possibly damaging	Het
Dscam	G	A	16: 96,445,122 (GRCm39)	T1523I	probably benign	Het
Farp1	T	C	14: 121,479,818 (GRCm39)	S370P	probably damaging	Het
Fbxl21	G	A	13: 56,684,976 (GRCm39)	G360D	probably damaging	Het
Fbxo39	T	C	11: 72,208,358 (GRCm39)	S237P	probably damaging	Het
Gart	G	T	16: 91,435,672 (GRCm39)	F180L	probably benign	Het
Gng4	T	C	13: 13,999,857 (GRCm39)	L42P	possibly damaging	Het
Heatr9	T	A	11: 83,403,234 (GRCm39)	D435V	probably damaging	Het
Hsh2d	A	G	8: 72,950,648 (GRCm39)	E45G	probably damaging	Het
Ighv1-74	A	G	12: 115,766,410 (GRCm39)	I70T	probably damaging	Het
Igkv1-133	T	A	6: 67,701,924 (GRCm39)	F9L	probably benign	Het
Ipo5	A	G	14: 121,167,051 (GRCm39)		probably null	Het
Jmjd1c	T	C	10: 67,067,774 (GRCm39)	V1578A	probably damaging	Het
Kcnj5	T	C	9: 32,233,517 (GRCm39)	D266G	probably damaging	Het
Klk1b9	A	T	7: 43,629,211 (GRCm39)	K206N	probably damaging	Het
Macir	T	A	1: 97,573,615 (GRCm39)	H150L	probably damaging	Het
Madd	C	T	2: 90,997,853 (GRCm39)	G725D	probably null	Het
Mki67	A	T	7: 135,306,333 (GRCm39)	H576Q	probably damaging	Het
Mprip	T	A	11: 59,651,681 (GRCm39)	I36N		Het
Mycbp2	T	G	14: 103,437,621 (GRCm39)	E2113D	probably damaging	Het
Noa1	T	C	5: 77,457,677 (GRCm39)	Y76C	probably damaging	Het
Noct	A	G	3: 51,155,069 (GRCm39)		probably benign	Het
Or5ac23	C	T	16: 59,149,606 (GRCm39)	D89N	possibly damaging	Het
Pcdhga6	C	T	18: 37,842,479 (GRCm39)	S733L	not run	Het
Pdlim7	T	C	13: 55,646,919 (GRCm39)	E389G	probably damaging	Het
Ppip5k1	A	G	2: 121,173,139 (GRCm39)	Y480H	possibly damaging	Het
Prdm15	A	G	16: 97,613,792 (GRCm39)	M459T	probably benign	Het
Ptpn13	G	A	5: 103,688,924 (GRCm39)	A906T	probably damaging	Het
Ptpn21	T	C	12: 98,655,101 (GRCm39)	E622G	probably damaging	Het
Pum1	T	C	4: 130,501,788 (GRCm39)	V1104A	probably benign	Het
Scn2a	G	A	2: 65,512,427 (GRCm39)	R188Q	probably null	Het
Sh3pxd2b	G	A	11: 32,321,533 (GRCm39)	V31I	probably damaging	Het
Skor1	T	C	9: 63,052,328 (GRCm39)	E547G	possibly damaging	Het
Slk	C	T	19: 47,603,668 (GRCm39)	T183I		Het
Sorcs1	C	A	19: 50,132,470 (GRCm39)	D1163Y	unknown	Het
Tex14	G	A	11: 87,424,428 (GRCm39)		probably null	Het
Them5	A	G	3: 94,253,496 (GRCm39)	T169A	possibly damaging	Het
Tlcd4	A	T	3: 121,022,041 (GRCm39)	I119K	probably damaging	Het
Trav5-4	T	C	14: 53,941,908 (GRCm39)	F94L	probably benign	Het
Trpc6	G	C	9: 8,656,705 (GRCm39)	G789R	probably benign	Het
Ttn	A	T	2: 76,537,095 (GRCm39)	C34944*	probably null	Het
Usp53	T	C	3: 122,754,916 (GRCm39)	M180V	probably benign	Het
Vwa3b	T	C	1: 37,193,107 (GRCm39)	S8P	probably damaging	Het
Wdr90	A	T	17: 26,069,723 (GRCm39)	M1205K	probably benign	Het
Zcwpw1	A	T	5: 137,795,032 (GRCm39)	E76V	probably null	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
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
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'- TGTCCCACTGTAAAGATGAAAAGTC -3'
(R):5'- AGCTCTTCTAAGGTGGGGAC -3'

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

Posted On

2019-12-20