Mutagenetix > Incidental Mutation

Incidental Mutation 'R5671:Arhgap45'

442623

Institutional Source

Beutler Lab

Gene Symbol

Arhgap45

Ensembl Gene

ENSMUSG00000035697

Gene Name

Rho GTPase activating protein 45

Synonyms

6330406L22Rik, Hmha1

MMRRC Submission

043314-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5671 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79852505-79867305 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79861310 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 491 (E491G)

Ref Sequence

ENSEMBL: ENSMUSP00000101012 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043311] [ENSMUST00000099501] [ENSMUST00000105373]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000043311
AA Change: E364G

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

SMART Domains

Protein: ENSMUSP00000041019
Gene: ENSMUSG00000035697
AA Change: E364G

Domain	Start	End	E-Value	Type
low complexity region	142	153	N/A	INTRINSIC
FCH	157	244	4.14e-17	SMART
low complexity region	255	269	N/A	INTRINSIC
low complexity region	309	324	N/A	INTRINSIC
low complexity region	330	345	N/A	INTRINSIC
low complexity region	527	536	N/A	INTRINSIC
C1	582	628	3.15e-8	SMART
RhoGAP	653	852	2.73e-73	SMART
low complexity region	856	869	N/A	INTRINSIC
Blast:RhoGAP	876	999	1e-21	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000099501
AA Change: E480G

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

SMART Domains

Protein: ENSMUSP00000097100
Gene: ENSMUSG00000035697
AA Change: E480G

Domain	Start	End	E-Value	Type
low complexity region	258	269	N/A	INTRINSIC
FCH	273	360	4.14e-17	SMART
low complexity region	371	385	N/A	INTRINSIC
low complexity region	425	440	N/A	INTRINSIC
low complexity region	446	461	N/A	INTRINSIC
low complexity region	643	652	N/A	INTRINSIC
C1	698	744	3.15e-8	SMART
RhoGAP	769	968	2.73e-73	SMART
low complexity region	972	985	N/A	INTRINSIC
Blast:RhoGAP	992	1115	1e-21	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000105373
AA Change: E491G

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

SMART Domains

Protein: ENSMUSP00000101012
Gene: ENSMUSG00000035697
AA Change: E491G

Domain	Start	End	E-Value	Type
low complexity region	269	280	N/A	INTRINSIC
FCH	284	371	4.14e-17	SMART
low complexity region	382	396	N/A	INTRINSIC
low complexity region	436	451	N/A	INTRINSIC
low complexity region	457	472	N/A	INTRINSIC
low complexity region	654	663	N/A	INTRINSIC
C1	709	755	3.15e-8	SMART
RhoGAP	780	979	2.73e-73	SMART
low complexity region	983	996	N/A	INTRINSIC
Blast:RhoGAP	1003	1126	1e-21	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140974

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150022

Meta Mutation Damage Score

0.1548

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Ak2	T	A	4: 128,902,040 (GRCm39)	F238I	probably damaging	Het
Akap8l	T	C	17: 32,557,266 (GRCm39)	Y115C	probably damaging	Het
Alms1	T	A	6: 85,606,190 (GRCm39)	N2613K	possibly damaging	Het
Antxr1	C	T	6: 87,194,255 (GRCm39)		probably null	Het
Ap3b1	A	T	13: 94,664,765 (GRCm39)	R901S	unknown	Het
Capn11	C	T	17: 45,950,600 (GRCm39)	R293Q	possibly damaging	Het
Cdx1	C	T	18: 61,152,971 (GRCm39)	V212I	probably benign	Het
Clca4b	G	A	3: 144,627,624 (GRCm39)	T449I	probably benign	Het
Clec14a	T	C	12: 58,314,612 (GRCm39)	I337V	probably benign	Het
Clip4	A	C	17: 72,096,878 (GRCm39)	M1L	probably damaging	Het
Exoc3l4	T	C	12: 111,389,851 (GRCm39)	I142T	probably damaging	Het
Flnb	T	A	14: 7,890,843 (GRCm38)	I575N	probably benign	Het
Gad1-ps	A	T	10: 99,280,395 (GRCm39)		noncoding transcript	Het
Golga7	C	T	8: 23,740,360 (GRCm39)	A57T	probably damaging	Het
Gpa33	A	G	1: 165,974,360 (GRCm39)	T66A	possibly damaging	Het
Gpr141b	A	G	13: 19,913,465 (GRCm39)		noncoding transcript	Het
Gpr45	A	G	1: 43,072,218 (GRCm39)	Y287C	probably damaging	Het
H2-Eb1	C	A	17: 34,533,229 (GRCm39)	Y150*	probably null	Het
Hsd17b8	T	C	17: 34,245,435 (GRCm39)	D233G	probably null	Het
Ifna6	A	T	4: 88,745,906 (GRCm39)	Q85L	probably damaging	Het
Igkv9-120	G	A	6: 68,027,257 (GRCm39)	W57*	probably null	Het
Ivns1abp	G	T	1: 151,229,760 (GRCm39)	L149F	probably benign	Het
Kank4	A	G	4: 98,653,698 (GRCm39)		probably null	Het
Lama2	A	T	10: 27,066,540 (GRCm39)	C1114S	probably damaging	Het
Lmbr1l	A	C	15: 98,805,489 (GRCm39)	D337E	possibly damaging	Het
Ly75	T	C	2: 60,138,655 (GRCm39)	D1404G	probably damaging	Het
Muc4	A	G	16: 32,575,011 (GRCm39)	T1199A	probably benign	Het
Nalcn	A	G	14: 123,532,818 (GRCm39)	I1314T	probably damaging	Het
Nhlrc1	A	G	13: 47,167,193 (GRCm39)	F355L	probably benign	Het
Or2y16	T	C	11: 49,335,140 (GRCm39)	V154A	probably benign	Het
Or4k39	C	T	2: 111,238,818 (GRCm39)		noncoding transcript	Het
Or5b21	A	T	19: 12,839,171 (GRCm39)	T11S	probably benign	Het
Pcsk1	A	G	13: 75,246,026 (GRCm39)	T135A	possibly damaging	Het
Ptpru	T	A	4: 131,547,501 (GRCm39)	Y112F	possibly damaging	Het
Rbbp8	A	G	18: 11,875,699 (GRCm39)	S871G	probably benign	Het
Rhoj	A	T	12: 75,440,743 (GRCm39)	I135F	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Semp2l2b	T	A	10: 21,942,742 (GRCm39)	T413S	possibly damaging	Het
Ska1	G	T	18: 74,330,067 (GRCm39)	D224E	probably damaging	Het
Slc11a2	A	G	15: 100,301,169 (GRCm39)	Y295H	probably damaging	Het
Slc22a28	A	T	19: 8,108,795 (GRCm39)	C116S	probably damaging	Het
Synpo	T	C	18: 60,729,022 (GRCm39)	D1060G	probably damaging	Het
Tectb	T	C	19: 55,181,059 (GRCm39)	S310P	probably benign	Het
Tmc6	A	G	11: 117,666,441 (GRCm39)	S288P	possibly damaging	Het
Tpo	A	G	12: 30,169,490 (GRCm39)	S82P	probably benign	Het
Ttyh3	T	A	5: 140,617,307 (GRCm39)	M321L	probably benign	Het
Usp8	A	G	2: 126,584,345 (GRCm39)	D518G	probably benign	Het
Vmn2r11	A	G	5: 109,202,772 (GRCm39)	W102R	probably benign	Het
Vps13a	G	A	19: 16,692,464 (GRCm39)	H817Y	probably benign	Het
Vps51	A	G	19: 6,118,224 (GRCm39)	V757A	probably benign	Het
Washc4	T	C	10: 83,405,892 (GRCm39)	S463P	probably damaging	Het
Zfp423	T	C	8: 88,508,955 (GRCm39)	N442S	probably damaging	Het

Other mutations in Arhgap45

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01360:Arhgap45	APN	10	79,864,482 (GRCm39)	splice site	probably benign
IGL01414:Arhgap45	APN	10	79,862,938 (GRCm39)	missense	probably damaging	1.00
IGL01505:Arhgap45	APN	10	79,862,376 (GRCm39)	missense	probably benign	0.10
IGL02203:Arhgap45	APN	10	79,863,387 (GRCm39)	nonsense	probably null
IGL02557:Arhgap45	APN	10	79,857,472 (GRCm39)	missense	probably damaging	1.00
IGL02858:Arhgap45	APN	10	79,853,768 (GRCm39)	missense	probably benign	0.20
IGL03292:Arhgap45	APN	10	79,856,803 (GRCm39)	missense	probably benign	0.04
IGL03352:Arhgap45	APN	10	79,866,585 (GRCm39)	missense	probably damaging	0.96
Celt	UTSW	10	79,856,652 (GRCm39)	missense	probably damaging	1.00
celtic	UTSW	10	79,863,423 (GRCm39)	nonsense	probably null
druid	UTSW	10	79,862,181 (GRCm39)	critical splice donor site	probably null
Mistletoe	UTSW	10	79,862,936 (GRCm39)	nonsense	probably null
Roman	UTSW	10	79,863,431 (GRCm39)	missense	probably damaging	1.00
stonehenge	UTSW	10	79,861,316 (GRCm39)	missense	possibly damaging	0.81
IGL03048:Arhgap45	UTSW	10	79,852,851 (GRCm39)	missense	probably damaging	0.99
PIT4677001:Arhgap45	UTSW	10	79,856,583 (GRCm39)	missense	probably benign
R0532:Arhgap45	UTSW	10	79,857,917 (GRCm39)	missense	possibly damaging	0.92
R1233:Arhgap45	UTSW	10	79,863,416 (GRCm39)	missense	probably damaging	1.00
R1579:Arhgap45	UTSW	10	79,864,811 (GRCm39)	missense	probably damaging	1.00
R1666:Arhgap45	UTSW	10	79,864,584 (GRCm39)	missense	possibly damaging	0.82
R1668:Arhgap45	UTSW	10	79,864,584 (GRCm39)	missense	possibly damaging	0.82
R1688:Arhgap45	UTSW	10	79,864,929 (GRCm39)	missense	probably damaging	1.00
R1710:Arhgap45	UTSW	10	79,853,932 (GRCm39)	nonsense	probably null
R1902:Arhgap45	UTSW	10	79,861,300 (GRCm39)	missense	probably damaging	0.99
R1912:Arhgap45	UTSW	10	79,856,524 (GRCm39)	missense	probably benign	0.08
R1935:Arhgap45	UTSW	10	79,866,788 (GRCm39)	missense	probably damaging	1.00
R1936:Arhgap45	UTSW	10	79,866,788 (GRCm39)	missense	probably damaging	1.00
R1955:Arhgap45	UTSW	10	79,862,326 (GRCm39)	missense	probably benign	0.15
R1968:Arhgap45	UTSW	10	79,863,536 (GRCm39)	missense	probably damaging	1.00
R1977:Arhgap45	UTSW	10	79,856,652 (GRCm39)	missense	probably damaging	1.00
R1986:Arhgap45	UTSW	10	79,856,530 (GRCm39)	missense	probably damaging	1.00
R2074:Arhgap45	UTSW	10	79,863,014 (GRCm39)	missense	probably damaging	1.00
R2081:Arhgap45	UTSW	10	79,863,508 (GRCm39)	missense	probably damaging	1.00
R2162:Arhgap45	UTSW	10	79,852,813 (GRCm39)	start codon destroyed	probably null	0.02
R2937:Arhgap45	UTSW	10	79,864,836 (GRCm39)	missense	probably damaging	1.00
R2938:Arhgap45	UTSW	10	79,864,836 (GRCm39)	missense	probably damaging	1.00
R3081:Arhgap45	UTSW	10	79,862,281 (GRCm39)	missense	probably damaging	1.00
R4695:Arhgap45	UTSW	10	79,861,364 (GRCm39)	missense	probably damaging	1.00
R4736:Arhgap45	UTSW	10	79,862,006 (GRCm39)	missense	probably damaging	1.00
R4758:Arhgap45	UTSW	10	79,866,127 (GRCm39)	missense	probably benign	0.00
R4860:Arhgap45	UTSW	10	79,862,900 (GRCm39)	missense	probably damaging	1.00
R4860:Arhgap45	UTSW	10	79,862,900 (GRCm39)	missense	probably damaging	1.00
R4934:Arhgap45	UTSW	10	79,856,791 (GRCm39)	missense	probably damaging	1.00
R4943:Arhgap45	UTSW	10	79,862,337 (GRCm39)	missense	probably benign	0.00
R5102:Arhgap45	UTSW	10	79,857,262 (GRCm39)	missense	probably benign	0.01
R5128:Arhgap45	UTSW	10	79,866,793 (GRCm39)	missense	probably benign	0.16
R5667:Arhgap45	UTSW	10	79,861,310 (GRCm39)	missense	probably damaging	1.00
R5920:Arhgap45	UTSW	10	79,864,965 (GRCm39)	missense	possibly damaging	0.87
R5998:Arhgap45	UTSW	10	79,866,784 (GRCm39)	missense	probably damaging	0.99
R6276:Arhgap45	UTSW	10	79,862,068 (GRCm39)	missense	probably benign	0.25
R6675:Arhgap45	UTSW	10	79,853,938 (GRCm39)	missense	probably null	0.98
R6738:Arhgap45	UTSW	10	79,863,431 (GRCm39)	missense	probably damaging	1.00
R6783:Arhgap45	UTSW	10	79,853,698 (GRCm39)	missense	possibly damaging	0.92
R6863:Arhgap45	UTSW	10	79,853,616 (GRCm39)	missense	probably benign	0.03
R6978:Arhgap45	UTSW	10	79,857,682 (GRCm39)	missense	probably benign	0.00
R7089:Arhgap45	UTSW	10	79,862,181 (GRCm39)	critical splice donor site	probably null
R7215:Arhgap45	UTSW	10	79,861,316 (GRCm39)	missense	possibly damaging	0.81
R7307:Arhgap45	UTSW	10	79,865,016 (GRCm39)	missense	probably benign	0.14
R7308:Arhgap45	UTSW	10	79,862,392 (GRCm39)	critical splice donor site	probably null
R7480:Arhgap45	UTSW	10	79,862,936 (GRCm39)	nonsense	probably null
R7481:Arhgap45	UTSW	10	79,858,134 (GRCm39)	missense	possibly damaging	0.80
R7649:Arhgap45	UTSW	10	79,866,835 (GRCm39)	missense	probably benign	0.00
R7652:Arhgap45	UTSW	10	79,864,672 (GRCm39)	missense	probably benign	0.01
R7748:Arhgap45	UTSW	10	79,852,766 (GRCm39)	unclassified	probably benign
R7883:Arhgap45	UTSW	10	79,863,423 (GRCm39)	nonsense	probably null
R8121:Arhgap45	UTSW	10	79,853,909 (GRCm39)	missense	probably damaging	0.99
R8169:Arhgap45	UTSW	10	79,863,706 (GRCm39)	missense	probably damaging	1.00
R8170:Arhgap45	UTSW	10	79,863,706 (GRCm39)	missense	probably damaging	1.00
R8175:Arhgap45	UTSW	10	79,863,706 (GRCm39)	missense	probably damaging	1.00
R8178:Arhgap45	UTSW	10	79,863,706 (GRCm39)	missense	probably damaging	1.00
R8186:Arhgap45	UTSW	10	79,863,706 (GRCm39)	missense	probably damaging	1.00
R8187:Arhgap45	UTSW	10	79,863,706 (GRCm39)	missense	probably damaging	1.00
R8687:Arhgap45	UTSW	10	79,852,621 (GRCm39)	unclassified	probably benign
R8866:Arhgap45	UTSW	10	79,853,750 (GRCm39)	missense	probably damaging	1.00
R8905:Arhgap45	UTSW	10	79,855,570 (GRCm39)	missense	probably benign	0.00
R9299:Arhgap45	UTSW	10	79,862,565 (GRCm39)	missense	possibly damaging	0.82
R9412:Arhgap45	UTSW	10	79,855,564 (GRCm39)	start codon destroyed	probably null	0.66
R9579:Arhgap45	UTSW	10	79,853,843 (GRCm39)	missense	probably benign
R9629:Arhgap45	UTSW	10	79,863,694 (GRCm39)	missense	probably damaging	1.00
R9710:Arhgap45	UTSW	10	79,857,635 (GRCm39)	missense	probably damaging	0.99
X0023:Arhgap45	UTSW	10	79,866,634 (GRCm39)	missense	probably damaging	0.98
X0063:Arhgap45	UTSW	10	79,866,190 (GRCm39)	missense	possibly damaging	0.51
Z1176:Arhgap45	UTSW	10	79,864,886 (GRCm39)	missense	probably damaging	0.99
Z1176:Arhgap45	UTSW	10	79,861,370 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCCTTTCCACACTCATCATAAG -3'
(R):5'- ATGCCACTAGAATCACCGTG -3'

Sequencing Primer
(F):5'- GGGATTTTAGGCAAGAACTCCACTTC -3'
(R):5'- TAGAATCACCGTGCCAAACC -3'

Posted On

2016-11-09