Mutagenetix > Incidental Mutation

Incidental Mutation 'R7498:Prc1'

581210

Institutional Source

Beutler Lab

Gene Symbol

Prc1

Ensembl Gene

ENSMUSG00000038943

Gene Name

protein regulator of cytokinesis 1

Synonyms

D7Ertd348e

MMRRC Submission

045571-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7498 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79944198-79966007 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 79962898 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 564 (T564M)

Ref Sequence

ENSEMBL: ENSMUSP00000129675 (fasta)

Gene Model

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

possibly damaging
Transcript: ENSMUST00000047558
AA Change: T561M

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000043379
Gene: ENSMUSG00000038943
AA Change: T561M

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

possibly damaging
Transcript: ENSMUST00000163812
AA Change: T564M

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000129675
Gene: ENSMUSG00000038943
AA Change: T564M

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: T127M

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133618
Gene: ENSMUSG00000038943
AA Change: T127M

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

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

SMART Domains

Protein: ENSMUSP00000134262
Gene: ENSMUSG00000038943
AA Change: T193M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000174111

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174172
AA Change: T564M

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000133387
Gene: ENSMUSG00000038943
AA Change: T564M

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

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: ENSMUST00000174599

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

99% (75/76)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	G	A	2: 68,498,012 (GRCm39)	E148K	unknown	Het
Adgrl2	T	A	3: 148,564,852 (GRCm39)	K243*	probably null	Het
Adgrv1	A	T	13: 81,588,344 (GRCm39)	V4414E	possibly damaging	Het
Ahnak	A	T	19: 8,989,383 (GRCm39)	I3556F	probably benign	Het
Akap6	C	T	12: 53,189,488 (GRCm39)	R2301*	probably null	Het
Alg6	A	G	4: 99,636,933 (GRCm39)	T305A	probably damaging	Het
Alpk1	C	T	3: 127,473,427 (GRCm39)	A859T	probably benign	Het
Apba3	T	A	10: 81,104,735 (GRCm39)	F3I	possibly damaging	Het
Birc6	A	G	17: 74,967,465 (GRCm39)	E4151G	probably damaging	Het
Bmp2k	T	A	5: 97,235,978 (GRCm39)	F1134I	probably benign	Het
C6	A	T	15: 4,792,846 (GRCm39)	H317L	probably damaging	Het
Catsperg2	G	A	7: 29,416,527 (GRCm39)	S295L	possibly damaging	Het
Ccdc142	G	T	6: 83,080,212 (GRCm39)	R385L	possibly damaging	Het
Ciz1	A	T	2: 32,261,761 (GRCm39)	M482L	probably benign	Het
Crisp3	A	G	17: 40,536,693 (GRCm39)		probably null	Het
Dcaf15	G	A	8: 84,828,392 (GRCm39)	P233S	probably damaging	Het
Def8	A	G	8: 124,174,583 (GRCm39)	N16S	probably damaging	Het
Dnah7b	T	G	1: 46,364,925 (GRCm39)	S3569A	probably damaging	Het
Dok6	C	T	18: 89,787,443 (GRCm39)		probably benign	Het
Dop1a	A	T	9: 86,376,464 (GRCm39)	T233S	possibly damaging	Het
Ep300	T	A	15: 81,524,044 (GRCm39)	V1325D	unknown	Het
Fancm	T	A	12: 65,146,165 (GRCm39)	H629Q	probably benign	Het
Fbxo10	T	C	4: 45,062,194 (GRCm39)	S111G	probably benign	Het
Fbxo21	T	C	5: 118,140,239 (GRCm39)		probably null	Het
Fdx1	A	C	9: 51,859,898 (GRCm39)	L144R	probably damaging	Het
Fgfr3	GGACCTCTCCGTG	GG	5: 33,892,766 (GRCm39)		probably null	Het
Flot2	G	A	11: 77,944,188 (GRCm39)		probably null	Het
Fndc10	C	T	4: 155,779,195 (GRCm39)	R80C	probably damaging	Het
Fut8	A	T	12: 77,459,708 (GRCm39)	T274S	probably benign	Het
Gli2	T	C	1: 118,763,565 (GRCm39)	M1529V	possibly damaging	Het
Gm7361	C	A	5: 26,466,188 (GRCm39)	H183Q	probably benign	Het
Hdlbp	T	A	1: 93,341,337 (GRCm39)	H1007L	probably benign	Het
Hmcn2	A	C	2: 31,273,487 (GRCm39)		probably null	Het
Inhbb	C	T	1: 119,345,608 (GRCm39)	R227H	probably damaging	Het
Kifc1	A	G	17: 34,102,846 (GRCm39)	F256L	probably benign	Het
Lman2	A	T	13: 55,494,790 (GRCm39)	F326Y	probably damaging	Het
Mcmdc2	T	C	1: 9,989,302 (GRCm39)	V242A	probably benign	Het
Mettl8	A	C	2: 70,795,969 (GRCm39)	V306G	probably damaging	Het
Mog	A	T	17: 37,322,984 (GRCm39)		probably null	Het
Morc2b	G	A	17: 33,356,833 (GRCm39)	A313V	possibly damaging	Het
Myh3	A	G	11: 66,987,874 (GRCm39)	N1449S	possibly damaging	Het
Myh8	C	A	11: 67,174,263 (GRCm39)	T200K	possibly damaging	Het
Myo16	T	A	8: 10,450,589 (GRCm39)	H530Q	unknown	Het
Neb	C	T	2: 52,148,188 (GRCm39)	R2686H	probably damaging	Het
Nudt2	T	C	4: 41,480,539 (GRCm39)	F141L	possibly damaging	Het
Obscn	G	A	11: 58,973,539 (GRCm39)	H1931Y	probably damaging	Het
Odad3	A	G	9: 21,913,553 (GRCm39)	I73T	probably damaging	Het
Or10al5	A	G	17: 38,063,242 (GRCm39)	T166A	probably damaging	Het
Or2d4	A	T	7: 106,543,575 (GRCm39)	V211D	possibly damaging	Het
Or5p80	T	A	7: 108,229,623 (GRCm39)	C141*	probably null	Het
Plcb1	T	A	2: 135,104,153 (GRCm39)	L274*	probably null	Het
Plcb1	G	T	2: 135,104,154 (GRCm39)	L274F	probably damaging	Het
Potefam3d	A	C	8: 69,972,475 (GRCm39)	Y91*	probably null	Het
Psd4	G	A	2: 24,296,996 (GRCm39)	R923Q	probably damaging	Het
Ptprj	G	A	2: 90,266,909 (GRCm39)	Q1300*	probably null	Het
Rapgef6	G	T	11: 54,510,830 (GRCm39)	R249L	probably damaging	Het
Slain1	G	A	14: 103,893,429 (GRCm39)		probably null	Het
Slfn9	A	T	11: 82,873,013 (GRCm39)	I630N	probably damaging	Het
Smg6	G	A	11: 74,819,932 (GRCm39)	A68T	probably benign	Het
Spata31h1	T	A	10: 82,127,113 (GRCm39)	T1966S	probably benign	Het
Spef2	T	A	15: 9,727,625 (GRCm39)	M153L	probably benign	Het
St8sia4	T	A	1: 95,519,418 (GRCm39)	M357L	probably benign	Het
Tal1	A	T	4: 114,925,879 (GRCm39)	H316L	possibly damaging	Het
Tenm4	A	G	7: 96,497,224 (GRCm39)	E1207G	probably damaging	Het
Tmem64	C	A	4: 15,266,176 (GRCm39)	H75Q	probably benign	Het
Tor4a	A	G	2: 25,085,804 (GRCm39)	V33A	probably benign	Het
Traj52	C	T	14: 54,402,818 (GRCm39)	T15I		Het
Trim50	G	A	5: 135,392,768 (GRCm39)	V228M	probably benign	Het
Trpm1	A	T	7: 63,858,657 (GRCm39)	I360F	possibly damaging	Het
Trpm6	A	T	19: 18,853,484 (GRCm39)	R1835W	probably damaging	Het
Ubn1	T	C	16: 4,894,969 (GRCm39)	S672P	probably damaging	Het
Ugt2a2	C	T	5: 87,622,500 (GRCm39)	C156Y	probably damaging	Het
Wnk1	T	C	6: 119,904,157 (GRCm39)	S2223G	unknown	Het
Wnt7b	G	T	15: 85,427,880 (GRCm39)	A194E	probably damaging	Het
Zmpste24	A	G	4: 120,940,028 (GRCm39)	V206A	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
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
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'- ACAGGCTTATAGACTTACGAGC -3'
(R):5'- GGCATGAAAGGGATTCTCAGC -3'

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

Posted On

2019-10-17