Mutagenetix > Incidental Mutation

Incidental Mutation 'R1869:Arhgef5'

210524

Institutional Source

Beutler Lab

Gene Symbol

Arhgef5

Ensembl Gene

ENSMUSG00000033542

Gene Name

Rho guanine nucleotide exchange factor 5

Synonyms

2210412D05Rik

MMRRC Submission

039891-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1869 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43242578-43266254 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43265616 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 1553 (I1553F)

Ref Sequence

ENSEMBL: ENSMUSP00000031750 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031750]

AlphaFold

E9Q7D5

Predicted Effect

probably damaging
Transcript: ENSMUST00000031750
AA Change: I1553F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031750
Gene: ENSMUSG00000033542
AA Change: I1553F

Domain	Start	End	E-Value	Type
Pfam:ARHGEF5_35	1	477	3.1e-220	PFAM
low complexity region	509	531	N/A	INTRINSIC
low complexity region	812	825	N/A	INTRINSIC
low complexity region	827	851	N/A	INTRINSIC
RhoGEF	1162	1341	2.97e-57	SMART
PH	1375	1488	1.11e-6	SMART
SH3	1497	1554	6.39e-15	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182190

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182647

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182924
AA Change: I767F

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183094

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183313

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.4%
20x: 92.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Rho GTPases play a fundamental role in numerous cellular processes initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein may be involved in the control of cytoskeletal organization. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased Th2 response in an ovalbumin-induced asthma model. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 127 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921536K21Rik	A	G	11: 3,840,067 (GRCm39)	L110P	probably damaging	Het
6030458C11Rik	T	C	15: 12,817,993 (GRCm39)	D168G	probably damaging	Het
Abca13	A	T	11: 9,242,134 (GRCm39)	E1332D	probably benign	Het
Abhd11	A	G	5: 135,040,471 (GRCm39)	Y168C	probably damaging	Het
Actr5	A	C	2: 158,480,643 (GRCm39)	T554P	probably damaging	Het
Adam34l	A	T	8: 44,078,132 (GRCm39)	Y697*	probably null	Het
Adamts16	A	G	13: 70,883,866 (GRCm39)	L1103P	probably damaging	Het
Adgrb3	A	T	1: 25,865,519 (GRCm39)	I108K	possibly damaging	Het
Agbl4	T	A	4: 111,423,826 (GRCm39)	M284K	possibly damaging	Het
Aoc3	T	A	11: 101,222,293 (GRCm39)	Y176*	probably null	Het
Aox1	A	G	1: 58,115,262 (GRCm39)	E749G	probably damaging	Het
Ap4b1	T	A	3: 103,728,184 (GRCm39)	Y399*	probably null	Het
Bag6	T	C	17: 35,361,802 (GRCm39)	V541A	probably benign	Het
Bdp1	A	C	13: 100,178,709 (GRCm39)	V1879G	probably damaging	Het
Bod1l	G	A	5: 41,991,018 (GRCm39)	S179F	possibly damaging	Het
Bsnd	C	T	4: 106,343,833 (GRCm39)	V158I	probably benign	Het
Cachd1	C	A	4: 100,840,587 (GRCm39)	H880N	probably damaging	Het
Ccdc27	T	C	4: 154,111,220 (GRCm39)		probably null	Het
Cd74	C	T	18: 60,943,484 (GRCm39)	P190S	probably benign	Het
Cep68	A	T	11: 20,190,217 (GRCm39)	L265Q	probably damaging	Het
Cfap70	G	A	14: 20,458,678 (GRCm39)	Q772*	probably null	Het
CK137956	T	A	4: 127,864,327 (GRCm39)	S101C	possibly damaging	Het
Clca3a2	G	A	3: 144,512,164 (GRCm39)	T524M	probably benign	Het
Cxcr6	T	C	9: 123,639,022 (GRCm39)	S15P	probably benign	Het
Cyfip2	T	A	11: 46,114,995 (GRCm39)	Y904F	probably benign	Het
D130040H23Rik	T	A	8: 69,755,354 (GRCm39)	I253N	probably benign	Het
Ddx56	C	T	11: 6,213,993 (GRCm39)	V389M	possibly damaging	Het
Dmp1	A	T	5: 104,359,942 (GRCm39)	D206V	probably damaging	Het
Dnah17	A	T	11: 117,938,015 (GRCm39)	C3350*	probably null	Het
Dst	A	T	1: 34,291,913 (GRCm39)	S877C	probably damaging	Het
Ermp1	A	G	19: 29,623,415 (GRCm39)	S192P	possibly damaging	Het
F13b	G	A	1: 139,438,672 (GRCm39)	D359N	probably benign	Het
Fam171a1	A	T	2: 3,227,189 (GRCm39)	Q769L	possibly damaging	Het
Fap	T	C	2: 62,359,071 (GRCm39)	R411G	probably damaging	Het
Fbn1	A	G	2: 125,193,947 (GRCm39)	V1340A	probably benign	Het
Fbxw19	T	C	9: 109,311,100 (GRCm39)	I370V	probably benign	Het
Foxi1	A	T	11: 34,157,937 (GRCm39)	N29K	possibly damaging	Het
Frem2	T	G	3: 53,442,617 (GRCm39)	D2640A	probably benign	Het
Fzd4	T	C	7: 89,056,454 (GRCm39)	V167A	probably benign	Het
Galnt3	T	C	2: 65,928,123 (GRCm39)	I258V	possibly damaging	Het
Galr2	T	C	11: 116,174,069 (GRCm39)	V233A	possibly damaging	Het
Gldc	G	T	19: 30,116,732 (GRCm39)	Q407K	probably benign	Het
Gmcl1	T	C	6: 86,674,498 (GRCm39)	D460G	probably benign	Het
Gpr89	A	G	3: 96,782,975 (GRCm39)	I325T	probably benign	Het
Grap	T	A	11: 61,555,015 (GRCm39)	Y61N	possibly damaging	Het
Hbs1l	G	T	10: 21,234,305 (GRCm39)		probably null	Het
Hexb	T	A	13: 97,327,767 (GRCm39)	E134D	probably benign	Het
Hydin	T	A	8: 111,227,337 (GRCm39)	V1507D	possibly damaging	Het
Igkv8-16	C	A	6: 70,363,971 (GRCm39)	G17V	probably benign	Het
Kdm4a	T	A	4: 117,996,068 (GRCm39)	Q987L	probably null	Het
Krt76	A	G	15: 101,797,922 (GRCm39)		probably null	Het
Lap3	T	C	5: 45,660,729 (GRCm39)	S238P	probably benign	Het
Letm2	T	C	8: 26,071,729 (GRCm39)	D391G	probably damaging	Het
Lipn	A	G	19: 34,058,139 (GRCm39)	T287A	possibly damaging	Het
Macf1	T	C	4: 123,244,921 (GRCm39)	S466G	probably damaging	Het
Map3k5	C	A	10: 20,007,855 (GRCm39)	S1220*	probably null	Het
Map4	T	A	9: 109,897,996 (GRCm39)	S754R	possibly damaging	Het
Map4	T	C	9: 109,864,032 (GRCm39)	V419A	probably benign	Het
Mroh9	A	G	1: 162,854,082 (GRCm39)	S773P	probably damaging	Het
Mtus1	A	C	8: 41,529,267 (GRCm39)		probably null	Het
Muc1	C	T	3: 89,139,117 (GRCm39)	P533S	probably damaging	Het
Muc13	A	T	16: 33,624,970 (GRCm39)	I282F	probably damaging	Het
Mucl3	A	G	17: 35,949,305 (GRCm39)	L98P	possibly damaging	Het
Myh14	T	A	7: 44,261,067 (GRCm39)	Q1816L	possibly damaging	Het
Nalcn	A	C	14: 123,831,965 (GRCm39)	V103G	possibly damaging	Het
Nlrp9c	G	A	7: 26,084,245 (GRCm39)	Q445*	probably null	Het
Olfml2b	A	G	1: 170,496,812 (GRCm39)	D481G	probably damaging	Het
Or13g1	T	A	7: 85,955,875 (GRCm39)	I149F	possibly damaging	Het
Or2ag19	T	G	7: 106,444,301 (GRCm39)	I161S	probably benign	Het
Or5g23	A	G	2: 85,438,844 (GRCm39)	S137P	probably benign	Het
Or8b37	T	A	9: 37,959,498 (GRCm39)		probably null	Het
Or8k3b	T	A	2: 86,520,735 (GRCm39)	I195F	probably damaging	Het
Pcdhb2	A	T	18: 37,430,408 (GRCm39)		probably null	Het
Pcdhb22	A	C	18: 37,652,200 (GRCm39)	T223P	probably damaging	Het
Pcdhga1	T	A	18: 37,973,143 (GRCm39)	N907K	probably damaging	Het
Pcnt	T	C	10: 76,215,740 (GRCm39)	E2347G	probably null	Het
Phax	T	A	18: 56,706,176 (GRCm39)	V22D	probably benign	Het
Pik3ca	T	C	3: 32,504,499 (GRCm39)	F667S	probably damaging	Het
Pkd1	T	C	17: 24,813,905 (GRCm39)	F4123S	probably damaging	Het
Pkhd1	A	G	1: 20,685,491 (GRCm39)		probably null	Het
Plcb1	G	A	2: 135,152,934 (GRCm39)	R368K	probably benign	Het
Prrc2a	G	T	17: 35,372,284 (GRCm39)	R1739S	possibly damaging	Het
Psg23	A	T	7: 18,348,543 (GRCm39)	M88K	probably benign	Het
Pstk	T	A	7: 130,989,526 (GRCm39)	Y354N	probably damaging	Het
Rab39	A	G	9: 53,617,231 (GRCm39)	I62T	possibly damaging	Het
Ranbp2	A	G	10: 58,328,383 (GRCm39)	I2800V	probably damaging	Het
Rasgrp1	T	C	2: 117,120,828 (GRCm39)	Y431C	probably damaging	Het
Rest	T	A	5: 77,416,209 (GRCm39)	V141E	possibly damaging	Het
Rnf167	T	A	11: 70,540,965 (GRCm39)	I197N	possibly damaging	Het
Rtn1	A	G	12: 72,354,942 (GRCm39)	S335P	probably damaging	Het
Ryr2	G	T	13: 11,676,961 (GRCm39)	R3297S	probably damaging	Het
S1pr3	A	C	13: 51,573,952 (GRCm39)	K378Q	probably benign	Het
Scgb1b24	T	C	7: 33,443,469 (GRCm39)	Y43H	probably damaging	Het
Sh3rf3	T	A	10: 58,919,335 (GRCm39)	M484K	probably damaging	Het
Shank1	A	T	7: 43,991,539 (GRCm39)	R69*	probably null	Het
Siglecf	A	G	7: 43,004,967 (GRCm39)	N399S	probably benign	Het
Slc1a7	A	G	4: 107,865,561 (GRCm39)	T350A	probably damaging	Het
Slc25a54	T	A	3: 108,987,932 (GRCm39)	Y24*	probably null	Het
Slk	T	C	19: 47,613,891 (GRCm39)	F916L	probably damaging	Het
Snap91	T	A	9: 86,672,194 (GRCm39)		probably null	Het
Snrpb2	A	T	2: 142,907,106 (GRCm39)	R25S	possibly damaging	Het
Specc1l	T	C	10: 75,097,659 (GRCm39)	Y811H	probably damaging	Het
Sprr2h	A	G	3: 92,293,925 (GRCm39)		probably benign	Het
Sult2a5	A	T	7: 13,358,045 (GRCm39)	I26F	probably benign	Het
Syt13	C	T	2: 92,776,448 (GRCm39)	T245I	possibly damaging	Het
Tecrl	T	A	5: 83,502,706 (GRCm39)	T33S	probably benign	Het
Telo2	T	A	17: 25,333,968 (GRCm39)	D93V	probably benign	Het
Tet2	A	T	3: 133,187,202 (GRCm39)		probably null	Het
Tgm7	A	T	2: 120,931,570 (GRCm39)	C198S	probably damaging	Het
Ticrr	T	C	7: 79,328,883 (GRCm39)	F674S	probably damaging	Het
Tmem129	C	A	5: 33,811,843 (GRCm39)	C31F	probably damaging	Het
Tmem132a	T	A	19: 10,836,052 (GRCm39)	D826V	possibly damaging	Het
Tpd52	T	C	3: 9,018,862 (GRCm39)		probably null	Het
Trub2	A	G	2: 29,667,678 (GRCm39)	S321P	probably benign	Het
Ttc29	A	G	8: 79,009,014 (GRCm39)	T295A	probably benign	Het
Tubb1	G	A	2: 174,298,482 (GRCm39)	S89N	probably benign	Het
Tut4	T	A	4: 108,386,497 (GRCm39)	F1122L	probably damaging	Het
Ubap2	C	A	4: 41,233,617 (GRCm39)	G91V	probably damaging	Het
Ugt2b35	A	G	5: 87,149,147 (GRCm39)	N133D	probably damaging	Het
Usp34	A	G	11: 23,314,479 (GRCm39)	H807R	probably benign	Het
Vmn1r220	A	C	13: 23,368,457 (GRCm39)	C80G	probably damaging	Het
Vmn1r79	A	G	7: 11,910,574 (GRCm39)	E152G	probably benign	Het
Vmn2r28	T	C	7: 5,489,345 (GRCm39)	Y498C	probably benign	Het
Wif1	A	G	10: 120,920,824 (GRCm39)	I215M	probably benign	Het
Wnk1	T	C	6: 119,928,050 (GRCm39)	T1134A	probably damaging	Het
Zfp90	A	G	8: 107,145,755 (GRCm39)	H29R	probably benign	Het
Zfp972	A	G	2: 177,563,480 (GRCm39)		probably null	Het

Other mutations in Arhgef5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00341:Arhgef5	APN	6	43,257,203 (GRCm39)	nonsense	probably null
IGL01341:Arhgef5	APN	6	43,260,925 (GRCm39)	missense	probably damaging	1.00
IGL01576:Arhgef5	APN	6	43,250,962 (GRCm39)	missense	probably benign	0.38
IGL01761:Arhgef5	APN	6	43,251,538 (GRCm39)	missense	probably benign	0.00
IGL02104:Arhgef5	APN	6	43,249,345 (GRCm39)	missense	probably damaging	0.99
IGL02208:Arhgef5	APN	6	43,252,064 (GRCm39)	missense	probably benign	0.11
IGL02487:Arhgef5	APN	6	43,260,916 (GRCm39)	missense	probably damaging	1.00
IGL02650:Arhgef5	APN	6	43,249,869 (GRCm39)	nonsense	probably null
IGL03292:Arhgef5	APN	6	43,257,180 (GRCm39)	missense	probably damaging	1.00
IGL03334:Arhgef5	APN	6	43,250,934 (GRCm39)	missense	possibly damaging	0.47
IGL03341:Arhgef5	APN	6	43,257,585 (GRCm39)	missense	probably damaging	0.99
R0047:Arhgef5	UTSW	6	43,242,555 (GRCm39)	splice site	probably null
R0206:Arhgef5	UTSW	6	43,250,275 (GRCm39)	missense	probably damaging	1.00
R0208:Arhgef5	UTSW	6	43,250,275 (GRCm39)	missense	probably damaging	1.00
R0698:Arhgef5	UTSW	6	43,250,275 (GRCm39)	missense	probably damaging	1.00
R1145:Arhgef5	UTSW	6	43,250,022 (GRCm39)	missense	possibly damaging	0.92
R1145:Arhgef5	UTSW	6	43,250,022 (GRCm39)	missense	possibly damaging	0.92
R1168:Arhgef5	UTSW	6	43,250,330 (GRCm39)	missense	probably benign	0.00
R1355:Arhgef5	UTSW	6	43,260,846 (GRCm39)	missense	probably damaging	1.00
R1370:Arhgef5	UTSW	6	43,260,846 (GRCm39)	missense	probably damaging	1.00
R1481:Arhgef5	UTSW	6	43,251,568 (GRCm39)	missense	probably damaging	0.99
R1529:Arhgef5	UTSW	6	43,256,449 (GRCm39)	missense	probably damaging	0.96
R1532:Arhgef5	UTSW	6	43,250,337 (GRCm39)	missense	probably benign
R1663:Arhgef5	UTSW	6	43,253,899 (GRCm39)	missense	probably damaging	1.00
R1742:Arhgef5	UTSW	6	43,257,133 (GRCm39)	missense	probably damaging	1.00
R1852:Arhgef5	UTSW	6	43,252,119 (GRCm39)	missense	probably benign	0.00
R1880:Arhgef5	UTSW	6	43,250,022 (GRCm39)	missense	possibly damaging	0.92
R2146:Arhgef5	UTSW	6	43,260,252 (GRCm39)	missense	probably damaging	1.00
R2169:Arhgef5	UTSW	6	43,251,354 (GRCm39)	missense	probably benign	0.11
R3412:Arhgef5	UTSW	6	43,250,724 (GRCm39)	missense	probably benign
R4205:Arhgef5	UTSW	6	43,250,766 (GRCm39)	missense	possibly damaging	0.76
R4226:Arhgef5	UTSW	6	43,256,432 (GRCm39)	missense	probably damaging	1.00
R4227:Arhgef5	UTSW	6	43,256,432 (GRCm39)	missense	probably damaging	1.00
R4304:Arhgef5	UTSW	6	43,256,432 (GRCm39)	missense	probably damaging	1.00
R4308:Arhgef5	UTSW	6	43,256,432 (GRCm39)	missense	probably damaging	1.00
R4457:Arhgef5	UTSW	6	43,251,027 (GRCm39)	missense	probably damaging	1.00
R4469:Arhgef5	UTSW	6	43,252,033 (GRCm39)	missense	probably benign
R4636:Arhgef5	UTSW	6	43,251,876 (GRCm39)	missense	probably benign	0.11
R4791:Arhgef5	UTSW	6	43,260,117 (GRCm39)	missense	probably damaging	1.00
R4818:Arhgef5	UTSW	6	43,250,484 (GRCm39)	missense	probably benign	0.00
R4910:Arhgef5	UTSW	6	43,249,762 (GRCm39)	missense	probably benign	0.01
R4911:Arhgef5	UTSW	6	43,249,762 (GRCm39)	missense	probably benign	0.01
R5127:Arhgef5	UTSW	6	43,250,148 (GRCm39)	missense	probably damaging	0.99
R5209:Arhgef5	UTSW	6	43,250,634 (GRCm39)	missense	probably benign	0.01
R5245:Arhgef5	UTSW	6	43,242,614 (GRCm39)	start gained	probably benign
R5251:Arhgef5	UTSW	6	43,249,815 (GRCm39)	missense	possibly damaging	0.76
R5513:Arhgef5	UTSW	6	43,249,273 (GRCm39)	missense	probably damaging	0.96
R5613:Arhgef5	UTSW	6	43,250,997 (GRCm39)	missense	probably benign	0.01
R5616:Arhgef5	UTSW	6	43,252,874 (GRCm39)	missense	probably benign	0.20
R5817:Arhgef5	UTSW	6	43,252,038 (GRCm39)	missense	probably benign	0.15
R6024:Arhgef5	UTSW	6	43,252,068 (GRCm39)	missense	probably benign	0.00
R6735:Arhgef5	UTSW	6	43,251,966 (GRCm39)	missense	probably benign	0.01
R6825:Arhgef5	UTSW	6	43,251,895 (GRCm39)	missense	probably damaging	0.99
R6831:Arhgef5	UTSW	6	43,257,933 (GRCm39)	missense	probably damaging	1.00
R6901:Arhgef5	UTSW	6	43,250,232 (GRCm39)	missense	probably benign	0.00
R6932:Arhgef5	UTSW	6	43,251,351 (GRCm39)	missense	possibly damaging	0.94
R6968:Arhgef5	UTSW	6	43,252,276 (GRCm39)	missense	probably benign	0.00
R7018:Arhgef5	UTSW	6	43,265,665 (GRCm39)	missense	probably damaging	1.00
R7180:Arhgef5	UTSW	6	43,252,142 (GRCm39)	missense	possibly damaging	0.87
R7201:Arhgef5	UTSW	6	43,250,166 (GRCm39)	nonsense	probably null
R7358:Arhgef5	UTSW	6	43,256,507 (GRCm39)	missense	probably damaging	1.00
R7359:Arhgef5	UTSW	6	43,257,216 (GRCm39)	missense	probably damaging	1.00
R7468:Arhgef5	UTSW	6	43,257,605 (GRCm39)	nonsense	probably null
R7503:Arhgef5	UTSW	6	43,250,933 (GRCm39)	missense	probably benign	0.15
R7699:Arhgef5	UTSW	6	43,251,691 (GRCm39)	missense	probably benign	0.11
R7700:Arhgef5	UTSW	6	43,251,691 (GRCm39)	missense	probably benign	0.11
R7737:Arhgef5	UTSW	6	43,250,728 (GRCm39)	missense	possibly damaging	0.84
R7847:Arhgef5	UTSW	6	43,252,069 (GRCm39)	nonsense	probably null
R7950:Arhgef5	UTSW	6	43,250,859 (GRCm39)	missense	possibly damaging	0.76
R8161:Arhgef5	UTSW	6	43,260,885 (GRCm39)	missense	probably damaging	1.00
R8178:Arhgef5	UTSW	6	43,252,119 (GRCm39)	missense	probably benign	0.00
R8203:Arhgef5	UTSW	6	43,257,579 (GRCm39)	missense	probably damaging	1.00
R8318:Arhgef5	UTSW	6	43,252,933 (GRCm39)	critical splice donor site	probably null
R8857:Arhgef5	UTSW	6	43,264,558 (GRCm39)	missense	probably damaging	1.00
R9499:Arhgef5	UTSW	6	43,260,940 (GRCm39)	missense
R9610:Arhgef5	UTSW	6	43,257,890 (GRCm39)	missense	probably damaging	0.99
R9611:Arhgef5	UTSW	6	43,257,890 (GRCm39)	missense	probably damaging	0.99
R9623:Arhgef5	UTSW	6	43,251,736 (GRCm39)	missense	possibly damaging	0.86
R9685:Arhgef5	UTSW	6	43,250,527 (GRCm39)	missense	probably benign	0.11
RF023:Arhgef5	UTSW	6	43,256,407 (GRCm39)	missense	probably damaging	1.00
X0028:Arhgef5	UTSW	6	43,250,635 (GRCm39)	missense	probably benign	0.03
X0065:Arhgef5	UTSW	6	43,249,342 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GTCCATTCAGCCTCAGGATGTC -3'
(R):5'- CAAGGGACTGAGCTCATCCTTG -3'

Sequencing Primer
(F):5'- CAGCCTCAGGATGTCGATTAATTTTC -3'
(R):5'- ATTTCAGAAGGCCAGGTTCC -3'

Posted On

2014-06-30