Mutagenetix > Incidental Mutation

Incidental Mutation 'R8974:Arhgap27'

683323

Institutional Source

Beutler Lab

Gene Symbol

Arhgap27

Ensembl Gene

ENSMUSG00000034255

Gene Name

Rho GTPase activating protein 27

Synonyms

5730442P18Rik, Sh3d20, 2310069I04Rik

MMRRC Submission

068808-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R8974 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103222323-103254518 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103224756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 476 (F476I)

Ref Sequence

ENSEMBL: ENSMUSP00000039427 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041385] [ENSMUST00000107024]

AlphaFold

A2AB59

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041385
AA Change: F476I

PolyPhen 2 Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000039427
Gene: ENSMUSG00000034255
AA Change: F476I

Domain	Start	End	E-Value	Type
WW	48	81	3.49e-8	SMART
WW	101	134	7.44e-3	SMART
WW	216	248	2.32e-4	SMART
PH	279	396	1.08e-9	SMART
Blast:RhoGAP	446	480	2e-10	BLAST
RhoGAP	489	664	1.45e-68	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107024
AA Change: F675I

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102639
Gene: ENSMUSG00000034255
AA Change: F675I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (59/59)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat3	A	G	17: 13,143,716 (GRCm39)	V342A	probably damaging	Het
Acot4	T	C	12: 84,090,515 (GRCm39)	F404S	probably benign	Het
Alpk1	T	C	3: 127,473,580 (GRCm39)	T808A	probably benign	Het
Apba3	T	C	10: 81,109,032 (GRCm39)	V154A		Het
Asah2	A	T	19: 32,030,305 (GRCm39)	D122E	probably benign	Het
Asb10	T	C	5: 24,745,209 (GRCm39)	I47V	probably benign	Het
Catsperd	A	G	17: 56,959,525 (GRCm39)	T322A	possibly damaging	Het
Ccdc142	T	C	6: 83,078,963 (GRCm39)	V100A	probably benign	Het
Cdc5l	A	T	17: 45,715,621 (GRCm39)	C664S	possibly damaging	Het
Cep250	C	T	2: 155,812,042 (GRCm39)	A446V	unknown	Het
Cep89	A	G	7: 35,097,493 (GRCm39)	S40G	probably damaging	Het
Csmd2	A	G	4: 128,446,380 (GRCm39)	K3315R		Het
Cyp2d34	T	C	15: 82,500,537 (GRCm39)	E434G	probably damaging	Het
Degs1	A	G	1: 182,107,278 (GRCm39)	Y30H	probably benign	Het
Eps8l1	A	G	7: 4,474,817 (GRCm39)	D266G	probably damaging	Het
Fam168a	A	T	7: 100,484,611 (GRCm39)	T234S	probably benign	Het
Fzd3	G	T	14: 65,472,440 (GRCm39)	Q443K	possibly damaging	Het
Galnt7	A	G	8: 58,105,934 (GRCm39)	S27P		Het
Gpr162	T	C	6: 124,837,876 (GRCm39)	D258G	probably damaging	Het
Hdac2	A	G	10: 36,862,340 (GRCm39)	Y68C	probably damaging	Het
Lmbr1l	A	G	15: 98,810,408 (GRCm39)	C68R	probably damaging	Het
Loxhd1	A	G	18: 77,518,899 (GRCm39)	T1902A	possibly damaging	Het
Lrrc4c	T	C	2: 97,459,992 (GRCm39)	M206T	probably damaging	Het
Lrrc75b	T	C	10: 75,389,848 (GRCm39)	T168A	probably benign	Het
Magi1	A	G	6: 93,674,223 (GRCm39)	F1003L	probably damaging	Het
Map1s	T	C	8: 71,366,994 (GRCm39)	L633P	probably damaging	Het
Mapk11	G	A	15: 89,028,014 (GRCm39)	T341I	probably benign	Het
Mycbp2	A	T	14: 103,361,857 (GRCm39)	V4441D	probably damaging	Het
Nin	T	C	12: 70,124,932 (GRCm39)	E130G		Het
Nod2	T	A	8: 89,390,433 (GRCm39)	Y247N	probably damaging	Het
Nudcd3	A	T	11: 6,143,163 (GRCm39)	V169E	probably benign	Het
Or2w2	A	T	13: 21,758,203 (GRCm39)	I141N	probably damaging	Het
Or51v15-ps1	T	C	7: 103,278,489 (GRCm39)	Y226C	unknown	Het
Or6c200-ps1	A	C	10: 128,869,905 (GRCm39)	C269G	probably damaging	Het
Pcdh9	A	C	14: 94,125,113 (GRCm39)	N352K	probably benign	Het
Pfpl	G	A	19: 12,405,839 (GRCm39)	G30D	probably damaging	Het
Pi15	A	G	1: 17,691,675 (GRCm39)	D159G	possibly damaging	Het
Plxna4	G	T	6: 32,216,447 (GRCm39)	R543S	possibly damaging	Het
Ppp1r12c	C	T	7: 4,486,698 (GRCm39)	E543K	probably damaging	Het
Prkdc	T	A	16: 15,617,726 (GRCm39)		probably null	Het
Proca1	T	C	11: 78,096,144 (GRCm39)	S172P	probably damaging	Het
Ralgapa1	C	A	12: 55,723,791 (GRCm39)	M1578I	probably benign	Het
Rnf103	C	A	6: 71,486,092 (GRCm39)	A241E	probably damaging	Het
Rorb	T	C	19: 18,955,070 (GRCm39)	D182G	probably benign	Het
Ryr3	T	C	2: 112,742,624 (GRCm39)	K485E	possibly damaging	Het
Sec24d	G	A	3: 123,099,498 (GRCm39)	D324N	probably damaging	Het
Serpina3f	T	A	12: 104,183,642 (GRCm39)	I168N	probably damaging	Het
Sidt1	A	T	16: 44,101,980 (GRCm39)	*62R	probably null	Het
Slc22a27	A	C	19: 7,903,751 (GRCm39)	S129A	probably damaging	Het
Spata31e1	T	C	13: 49,939,556 (GRCm39)	D718G	probably benign	Het
Stab1	A	G	14: 30,882,779 (GRCm39)	V408A	probably benign	Het
Svil	G	T	18: 5,099,650 (GRCm39)	G1729W	probably damaging	Het
Tbx20	A	G	9: 24,681,082 (GRCm39)	S137P	probably damaging	Het
Tcstv2c	T	A	13: 120,616,486 (GRCm39)	D108E	probably benign	Het
Trem2	G	A	17: 48,655,599 (GRCm39)	R52Q	probably damaging	Het
Trim55	T	C	3: 19,699,603 (GRCm39)	S112P	probably damaging	Het
Vmn1r172	A	T	7: 23,359,840 (GRCm39)	M242L	probably benign	Het
Vmn2r91	G	A	17: 18,325,636 (GRCm39)	A85T	probably benign	Het
Zc3h3	T	C	15: 75,657,452 (GRCm39)	T580A	probably benign	Het
Zfp451	A	G	1: 33,816,535 (GRCm39)	C472R	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
R7869:Arhgap27	UTSW	11	103,251,130 (GRCm39)	missense	probably damaging	0.96
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
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'- ACTCAGGGTTTTCATACTCGG -3'
(R):5'- AAGCGACTTGAGCAGAGTCC -3'

Sequencing Primer
(F):5'- TGACCCTGTGCTCACCCAG -3'
(R):5'- ACTTGAGCAGAGTCCGGCAC -3'

Posted On

2021-10-11