Mutagenetix > Incidental Mutation

Incidental Mutation 'R4745:Prc1'

356647

Institutional Source

Beutler Lab

Gene Symbol

Prc1

Ensembl Gene

ENSMUSG00000038943

Gene Name

protein regulator of cytokinesis 1

Synonyms

D7Ertd348e

MMRRC Submission

042028-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4745 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79944198-79966007 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 79962911 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 131 (H131Q)

Ref Sequence

ENSEMBL: ENSMUSP00000133618 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047362] [ENSMUST00000047558] [ENSMUST00000121882] [ENSMUST00000172781] [ENSMUST00000163812] [ENSMUST00000174172] [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: H565Q

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

SMART Domains

Protein: ENSMUSP00000043379
Gene: ENSMUSG00000038943
AA Change: H565Q

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: ENSMUST00000172781
AA Change: H131Q

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000133618
Gene: ENSMUSG00000038943
AA Change: H131Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000163812
AA Change: H568Q

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

SMART Domains

Protein: ENSMUSP00000129675
Gene: ENSMUSG00000038943
AA Change: H568Q

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: ENSMUST00000174051
AA Change: H197Q

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000134262
Gene: ENSMUSG00000038943
AA Change: H197Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000174172
AA Change: H568Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000133387
Gene: ENSMUSG00000038943
AA Change: H568Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172911

Predicted Effect

probably benign
Transcript: ENSMUST00000173824

SMART Domains

Protein: ENSMUSP00000133910
Gene: ENSMUSG00000038943

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: ENSMUST00000174111

Predicted Effect

probably benign
Transcript: ENSMUST00000174599

Predicted Effect

probably benign
Transcript: ENSMUST00000174199

SMART Domains

Protein: ENSMUSP00000133295
Gene: ENSMUSG00000038943

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

97% (89/92)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,526,427 (GRCm39)	Y619C	probably damaging	Het
Adck1	A	G	12: 88,368,949 (GRCm39)		probably null	Het
Agap3	A	C	5: 24,656,123 (GRCm39)		probably null	Het
Ankib1	A	T	5: 3,782,566 (GRCm39)	H354Q	probably damaging	Het
Ankrd29	T	G	18: 12,387,679 (GRCm39)	N301T	probably benign	Het
Arhgef4	A	G	1: 34,846,356 (GRCm39)	T379A	probably damaging	Het
Arid1a	A	G	4: 133,480,417 (GRCm39)	V169A	probably benign	Het
Bag2	T	C	1: 33,787,417 (GRCm39)		probably null	Het
Bmt2	A	C	6: 13,628,686 (GRCm39)	Y332*	probably null	Het
Bpifb1	A	T	2: 154,053,501 (GRCm39)	K248*	probably null	Het
Caap1	C	A	4: 94,444,751 (GRCm39)		probably null	Het
Calcr	T	A	6: 3,692,576 (GRCm39)	Y389F	probably damaging	Het
Capn1	C	T	19: 6,043,946 (GRCm39)	V562I	probably benign	Het
Ccr1	T	A	9: 123,763,985 (GRCm39)	T182S	probably benign	Het
Ceacam15	T	C	7: 16,407,259 (GRCm39)	D86G	probably benign	Het
Cldnd1	C	T	16: 58,550,006 (GRCm39)	T63I	probably benign	Het
Col12a1	A	T	9: 79,559,368 (GRCm39)		probably null	Het
Cystm1	A	G	18: 36,526,348 (GRCm39)		probably benign	Het
Ddx55	T	A	5: 124,705,028 (GRCm39)	Y428*	probably null	Het
Ensa	G	A	3: 95,538,745 (GRCm39)	G118D	probably benign	Het
Folh1	A	T	7: 86,372,482 (GRCm39)		probably null	Het
Foxj2	C	A	6: 122,814,948 (GRCm39)	P328Q	probably damaging	Het
Fscn3	A	G	6: 28,435,627 (GRCm39)	I417V	probably damaging	Het
Galnt7	T	C	8: 57,995,761 (GRCm39)		probably benign	Het
Gm11563	T	A	11: 99,549,246 (GRCm39)	*169C	probably null	Het
Hfm1	A	T	5: 107,049,709 (GRCm39)	D417E	possibly damaging	Het
Ighv15-2	A	G	12: 114,528,230 (GRCm39)	S107P	probably damaging	Het
Itsn2	A	G	12: 4,711,944 (GRCm39)	D904G	probably damaging	Het
Kif1b	A	T	4: 149,322,339 (GRCm39)	L860*	probably null	Het
Krt79	T	C	15: 101,839,119 (GRCm39)	E450G	probably damaging	Het
Lama1	T	C	17: 68,045,775 (GRCm39)	S227P	probably damaging	Het
Lamp5	C	A	2: 135,902,786 (GRCm39)	H168Q	probably benign	Het
Lilra5	A	T	7: 4,245,076 (GRCm39)	Q240L	possibly damaging	Het
Lrp1	A	T	10: 127,385,813 (GRCm39)	C3521S	probably benign	Het
Mroh1	T	A	15: 76,292,730 (GRCm39)		probably null	Het
Nlrp4g	A	T	9: 124,349,515 (GRCm38)		noncoding transcript	Het
Nr2f6	A	T	8: 71,831,179 (GRCm39)	I70N	probably benign	Het
Nr4a2	T	A	2: 57,000,163 (GRCm39)	D311V	probably damaging	Het
Odad2	G	A	18: 7,286,763 (GRCm39)	T156M	probably benign	Het
Or10w1	T	A	19: 13,632,750 (GRCm39)	M319K	probably benign	Het
Or10x4	T	C	1: 174,219,442 (GRCm39)	L269P	probably damaging	Het
Or52n20	T	A	7: 104,320,711 (GRCm39)	F267L	probably damaging	Het
Pcdhb6	C	A	18: 37,468,426 (GRCm39)	A449D	possibly damaging	Het
Pcgf6	A	G	19: 47,036,545 (GRCm39)		probably null	Het
Ptprq	C	A	10: 107,360,114 (GRCm39)	R2187L	probably damaging	Het
Rasl2-9	C	A	7: 5,128,702 (GRCm39)	R76L	possibly damaging	Het
Rdh16f1	A	T	10: 127,626,685 (GRCm39)	Y246F	probably benign	Het
Rit1	T	C	3: 88,624,982 (GRCm39)		probably benign	Het
Sash1	A	G	10: 8,605,672 (GRCm39)	V906A	probably benign	Het
Scnn1b	T	C	7: 121,501,509 (GRCm39)	V108A	probably benign	Het
Sema4f	A	T	6: 82,895,265 (GRCm39)	I356N	probably damaging	Het
Shc4	A	T	2: 125,491,197 (GRCm39)	L447Q	probably damaging	Het
Slc24a1	T	C	9: 64,856,758 (GRCm39)	M50V	unknown	Het
Slc28a3	T	A	13: 58,722,077 (GRCm39)	D269V	possibly damaging	Het
Slc35e1	A	G	8: 73,246,166 (GRCm39)	S89P	possibly damaging	Het
Smpd5	T	A	15: 76,179,008 (GRCm39)	H125Q	probably benign	Het
Snapc2	A	G	8: 4,304,578 (GRCm39)	T31A	probably damaging	Het
Sox5	G	C	6: 143,779,214 (GRCm39)	H606D	possibly damaging	Het
Spag6	A	G	2: 18,742,107 (GRCm39)	T367A	possibly damaging	Het
Spag8	T	C	4: 43,651,636 (GRCm39)	T413A	probably damaging	Het
Sptlc3	G	A	2: 139,389,087 (GRCm39)	G156R	probably damaging	Het
Stx19	A	G	16: 62,642,783 (GRCm39)	T200A	probably benign	Het
Tas2r116	A	G	6: 132,832,668 (GRCm39)	T90A	probably benign	Het
Tasor2	G	A	13: 3,640,069 (GRCm39)	T356I	probably benign	Het
Tbl3	A	G	17: 24,924,304 (GRCm39)		probably benign	Het
Tekt5	G	T	16: 10,213,058 (GRCm39)	P76T	probably damaging	Het
Tjp2	C	T	19: 24,074,030 (GRCm39)	E1086K	possibly damaging	Het
Topbp1	T	C	9: 103,200,770 (GRCm39)	L601P	probably damaging	Het
Trav16	T	A	14: 53,980,934 (GRCm39)	M41K	possibly damaging	Het
Trav6-5	C	A	14: 53,728,960 (GRCm39)	N72K	probably benign	Het
Trpm3	C	G	19: 22,692,659 (GRCm39)	T250S	possibly damaging	Het
Vps35	A	T	8: 85,987,891 (GRCm39)	D753E	probably benign	Het
Vstm2a	A	T	11: 16,213,061 (GRCm39)	N149Y	probably damaging	Het
Vwa2	G	T	19: 56,895,318 (GRCm39)	M497I	probably benign	Het
Zfat	C	A	15: 68,052,223 (GRCm39)	V517L	probably benign	Het
Zfp169	C	A	13: 48,643,708 (GRCm39)	R473L	possibly damaging	Het
Zfp672	T	C	11: 58,220,324 (GRCm39)		probably benign	Het
Zranb1	T	C	7: 132,574,443 (GRCm39)	V420A	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
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'- GCAATACAAATGCAGTGTCAGG -3'
(R):5'- CCCAACATGATCAAGGCATG -3'

Sequencing Primer
(F):5'- ACAAATGCAGTGTCAGGGTTTC -3'
(R):5'- GCATGAAAGGGATTCTCAGCCC -3'

Posted On

2015-11-11