Mutagenetix > Incidental Mutation

Incidental Mutation 'R7869:Arhgap27'

607997

Institutional Source

Beutler Lab

Gene Symbol

Arhgap27

Ensembl Gene

ENSMUSG00000034255

Gene Name

Rho GTPase activating protein 27

Synonyms

5730442P18Rik, Sh3d20, 2310069I04Rik

MMRRC Submission

045921-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R7869 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103222323-103254518 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103251130 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 199 (N199K)

Ref Sequence

ENSEMBL: ENSMUSP00000102637 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041272] [ENSMUST00000092557] [ENSMUST00000107023] [ENSMUST00000107024] [ENSMUST00000136491]

AlphaFold

A2AB59

Predicted Effect

probably benign
Transcript: ENSMUST00000041272

SMART Domains

Protein: ENSMUSP00000047327
Gene: ENSMUSG00000034247

Domain	Start	End	E-Value	Type
RUN	117	180	3.36e-20	SMART
low complexity region	246	273	N/A	INTRINSIC
low complexity region	336	350	N/A	INTRINSIC
low complexity region	361	373	N/A	INTRINSIC
Blast:DUF4206	448	543	2e-11	BLAST
PH	552	644	2.16e-9	SMART
low complexity region	658	674	N/A	INTRINSIC
PH	702	797	2.15e-4	SMART
DUF4206	864	1068	7.51e-103	SMART
C1	1005	1058	2.72e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000092557
AA Change: N199K

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000102637
Gene: ENSMUSG00000034255
AA Change: N199K

Domain	Start	End	E-Value	Type
SH3	9	68	1.59e-1	SMART
low complexity region	73	89	N/A	INTRINSIC
low complexity region	220	229	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107023

SMART Domains

Protein: ENSMUSP00000102638
Gene: ENSMUSG00000034255

Domain	Start	End	E-Value	Type
WW	62	95	3.49e-8	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000107024
AA Change: N199K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102639
Gene: ENSMUSG00000034255
AA Change: N199K

Domain	Start	End	E-Value	Type
SH3	9	68	1.59e-1	SMART
low complexity region	73	89	N/A	INTRINSIC
WW	247	280	3.49e-8	SMART
WW	300	333	7.44e-3	SMART
WW	415	447	2.32e-4	SMART
PH	478	595	1.08e-9	SMART
Blast:RhoGAP	651	682	1e-6	BLAST
RhoGAP	688	863	1.45e-68	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000136491

SMART Domains

Protein: ENSMUSP00000128051
Gene: ENSMUSG00000034255

Domain	Start	End	E-Value	Type
Blast:WW	52	81	4e-10	BLAST

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein may pay a role in clathrin-mediated endocytosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2013]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	G	A	5: 113,332,001 (GRCm39)	R738C	possibly damaging	Het
Acot12	G	A	13: 91,919,844 (GRCm39)	V260M	probably benign	Het
Alkbh8	A	T	9: 3,359,503 (GRCm39)	H264L	probably damaging	Het
Arfgef2	C	T	2: 166,715,623 (GRCm39)	T1356I	probably damaging	Het
Asic2	T	C	11: 81,858,824 (GRCm39)	R63G	probably damaging	Het
Aspa	T	A	11: 73,204,378 (GRCm39)	M197L	probably benign	Het
BC005537	C	T	13: 24,987,382 (GRCm39)	R7W	possibly damaging	Het
Brdt	A	T	5: 107,518,045 (GRCm39)	I723L	probably benign	Het
C2cd3	T	A	7: 100,118,698 (GRCm39)	F2312Y	probably damaging	Het
Cd19	T	C	7: 126,009,698 (GRCm39)	N456S	probably damaging	Het
Ceacam1	G	T	7: 25,175,954 (GRCm39)	A80E	probably damaging	Het
Cep135	T	C	5: 76,788,803 (GRCm39)	V1132A	probably benign	Het
Cep85	A	G	4: 133,859,609 (GRCm39)	C687R	probably damaging	Het
Cln5	A	G	14: 103,313,501 (GRCm39)	Y251C	probably damaging	Het
Crygc	A	G	1: 65,111,014 (GRCm39)	M91T	possibly damaging	Het
Ddt	T	C	10: 75,609,060 (GRCm39)	K33R	probably damaging	Het
Dhfr	G	A	13: 92,494,471 (GRCm39)	W58*	probably null	Het
Dhx40	T	C	11: 86,688,532 (GRCm39)	E297G	probably benign	Het
Dner	T	C	1: 84,361,602 (GRCm39)	Y669C	probably benign	Het
Dpys	G	T	15: 39,656,782 (GRCm39)	F428L	probably damaging	Het
Dspp	A	C	5: 104,323,531 (GRCm39)	T225P	probably damaging	Het
Elac2	A	G	11: 64,890,213 (GRCm39)	K656E	probably damaging	Het
Ern1	T	A	11: 106,349,845 (GRCm39)	R24*	probably null	Het
F2rl2	T	C	13: 95,837,519 (GRCm39)	I188T	probably damaging	Het
Fam83b	C	T	9: 76,399,426 (GRCm39)	C559Y	possibly damaging	Het
Fat1	T	G	8: 45,504,259 (GRCm39)	F4584C	probably benign	Het
Gabra6	G	A	11: 42,207,322 (GRCm39)	T254I	possibly damaging	Het
Garem1	T	C	18: 21,432,757 (GRCm39)	D24G	probably damaging	Het
Gas2l2	A	T	11: 83,312,816 (GRCm39)	L832*	probably null	Het
Gpr68	C	T	12: 100,845,497 (GRCm39)	D16N	probably benign	Het
Il17b	T	C	18: 61,825,480 (GRCm39)	I172T	probably damaging	Het
Ildr2	T	G	1: 166,136,861 (GRCm39)	S567A	probably benign	Het
Kalrn	A	G	16: 33,809,217 (GRCm39)	V2557A	probably damaging	Het
Kif1b	A	G	4: 149,268,833 (GRCm39)	S1627P	probably benign	Het
Kif5a	G	A	10: 127,079,343 (GRCm39)	T285M	probably damaging	Het
Lrif1	G	A	3: 106,640,459 (GRCm39)		probably null	Het
Lrrn2	C	T	1: 132,867,116 (GRCm39)	T727I	unknown	Het
Lsg1	T	C	16: 30,383,540 (GRCm39)	E560G	probably benign	Het
Map4k4	C	A	1: 40,013,204 (GRCm39)	Q100K	unknown	Het
Mipep	A	T	14: 61,040,385 (GRCm39)	R302W	probably damaging	Het
Morf4l1	G	T	9: 89,975,844 (GRCm39)	T316K	probably damaging	Het
Mov10	A	T	3: 104,711,994 (GRCm39)	V126E	probably damaging	Het
Muc2	T	A	7: 141,303,471 (GRCm39)	C559S		Het
Myh7	A	G	14: 55,226,530 (GRCm39)	Y410H	probably damaging	Het
Nf1	T	A	11: 79,309,414 (GRCm39)	Y433N	probably damaging	Het
Nmd3	T	C	3: 69,633,750 (GRCm39)	L79P	probably damaging	Het
Nol10	G	T	12: 17,408,239 (GRCm39)	S155I	probably null	Het
Or2n1	T	C	17: 38,486,830 (GRCm39)	L285P	possibly damaging	Het
Or4p8	T	C	2: 88,727,408 (GRCm39)	I178V	probably benign	Het
Or52n2c	T	A	7: 104,574,311 (GRCm39)	Y220F	probably damaging	Het
Or5b12	A	G	19: 12,896,911 (GRCm39)	I254T	probably benign	Het
Pde3b	T	C	7: 114,093,922 (GRCm39)	S389P	probably benign	Het
Polr1c	C	T	17: 46,555,817 (GRCm39)	G188D	probably benign	Het
Prpf31	A	G	7: 3,633,859 (GRCm39)	M65V	probably benign	Het
Pum2	A	G	12: 8,763,595 (GRCm39)	T251A	probably benign	Het
Rabgap1	G	A	2: 37,377,142 (GRCm39)	V325I	probably benign	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rpl15	G	T	14: 18,269,017 (GRCm38)	Y203*	probably null	Het
Sac3d1	G	A	19: 6,168,456 (GRCm39)	P54L	possibly damaging	Het
Serpina3g	A	G	12: 104,206,510 (GRCm39)	I104V	probably benign	Het
Setd2	C	T	9: 110,379,082 (GRCm39)	Q966*	probably null	Het
Simc1	G	T	13: 54,651,713 (GRCm39)	D9Y	unknown	Het
Slc5a8	T	C	10: 88,757,567 (GRCm39)	L519S	probably benign	Het
Srcap	C	A	7: 127,138,366 (GRCm39)	Q1179K	possibly damaging	Het
Srd5a3	T	C	5: 76,295,583 (GRCm39)	L91P	probably damaging	Het
Stab1	T	C	14: 30,876,429 (GRCm39)	T887A	probably benign	Het
Sult2a6	A	G	7: 13,988,737 (GRCm39)	F8L	not run	Het
Thsd7a	A	T	6: 12,471,123 (GRCm39)	C498*	probably null	Het
Timp4	T	C	6: 115,227,355 (GRCm39)	I75V	probably benign	Het
Tspyl4	T	A	10: 34,174,096 (GRCm39)	M196K	probably damaging	Het
Ubr2	T	C	17: 47,301,934 (GRCm39)	E172G	probably benign	Het
Ubr5	G	A	15: 37,980,076 (GRCm39)	A2434V	probably null	Het
Unc13c	T	G	9: 73,602,159 (GRCm39)	L1362F	probably damaging	Het
Vmn2r11	A	G	5: 109,199,986 (GRCm39)	V489A	probably damaging	Het
Vps39	T	C	2: 120,169,875 (GRCm39)	T226A	possibly damaging	Het
Zan	C	T	5: 137,471,863 (GRCm39)	E185K	probably damaging	Het

Other mutations in Arhgap27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02318:Arhgap27	APN	11	103,223,989 (GRCm39)	missense	probably benign	0.00
IGL02946:Arhgap27	APN	11	103,229,174 (GRCm39)	missense	probably damaging	1.00
IGL03135:Arhgap27	APN	11	103,229,891 (GRCm39)	splice site	probably null
R1789:Arhgap27	UTSW	11	103,223,831 (GRCm39)	missense	probably damaging	1.00
R1842:Arhgap27	UTSW	11	103,230,822 (GRCm39)	missense	probably damaging	0.99
R1906:Arhgap27	UTSW	11	103,223,751 (GRCm39)	missense	probably damaging	1.00
R2884:Arhgap27	UTSW	11	103,251,669 (GRCm39)	splice site	probably null
R2885:Arhgap27	UTSW	11	103,251,669 (GRCm39)	splice site	probably null
R3157:Arhgap27	UTSW	11	103,224,663 (GRCm39)	splice site	probably null
R4679:Arhgap27	UTSW	11	103,251,775 (GRCm39)	unclassified	probably benign
R4708:Arhgap27	UTSW	11	103,224,388 (GRCm39)	splice site	probably benign
R4926:Arhgap27	UTSW	11	103,229,949 (GRCm39)	splice site	probably null
R5980:Arhgap27	UTSW	11	103,247,095 (GRCm39)	missense	probably benign	0.00
R6212:Arhgap27	UTSW	11	103,251,698 (GRCm39)	missense	probably damaging	1.00
R7205:Arhgap27	UTSW	11	103,235,367 (GRCm39)	missense	probably benign	0.00
R7208:Arhgap27	UTSW	11	103,251,585 (GRCm39)	missense	probably damaging	1.00
R7212:Arhgap27	UTSW	11	103,251,581 (GRCm39)	missense	probably damaging	0.99
R7327:Arhgap27	UTSW	11	103,251,367 (GRCm39)	nonsense	probably null
R7598:Arhgap27	UTSW	11	103,224,879 (GRCm39)	nonsense	probably null
R7732:Arhgap27	UTSW	11	103,230,869 (GRCm39)	missense	probably benign	0.00
R7791:Arhgap27	UTSW	11	103,230,020 (GRCm39)	critical splice donor site	probably null
R7826:Arhgap27	UTSW	11	103,229,153 (GRCm39)	missense	probably benign
R7949:Arhgap27	UTSW	11	103,228,595 (GRCm39)	missense	probably damaging	0.98
R8057:Arhgap27	UTSW	11	103,229,519 (GRCm39)	missense	probably damaging	1.00
R8397:Arhgap27	UTSW	11	103,224,073 (GRCm39)	missense	probably damaging	0.98
R8974:Arhgap27	UTSW	11	103,224,756 (GRCm39)	missense	possibly damaging	0.50
R9103:Arhgap27	UTSW	11	103,251,540 (GRCm39)	missense	probably damaging	1.00
R9373:Arhgap27	UTSW	11	103,251,287 (GRCm39)	missense	possibly damaging	0.52
R9397:Arhgap27	UTSW	11	103,231,115 (GRCm39)	missense	probably damaging	1.00
R9762:Arhgap27	UTSW	11	103,251,511 (GRCm39)	missense	probably benign	0.02
R9787:Arhgap27	UTSW	11	103,230,048 (GRCm39)	missense	possibly damaging	0.94
X0028:Arhgap27	UTSW	11	103,223,854 (GRCm39)	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- CCAAACTGTTCCTTACCGAGC -3'
(R):5'- TACGACTACCGCTTCGTGAG -3'

Sequencing Primer
(F):5'- ATAGGTTAGTTAACATCCCCGCGG -3'
(R):5'- ATGGGTCCTCTGCCGAG -3'

Posted On

2019-12-20