Mutagenetix > Incidental Mutation

Incidental Mutation 'R5102:Arhgap45'

392432

Institutional Source

Beutler Lab

Gene Symbol

Arhgap45

Ensembl Gene

ENSMUSG00000035697

Gene Name

Rho GTPase activating protein 45

Synonyms

6330406L22Rik, Hmha1

MMRRC Submission

042690-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5102 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79852505-79867305 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 79857262 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 254 (P254S)

Ref Sequence

ENSEMBL: ENSMUSP00000097100 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000043311
AA Change: P138S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000041019
Gene: ENSMUSG00000035697
AA Change: P138S

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 benign
Transcript: ENSMUST00000099501
AA Change: P254S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000097100
Gene: ENSMUSG00000035697
AA Change: P254S

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 benign
Transcript: ENSMUST00000105373
AA Change: P265S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000101012
Gene: ENSMUSG00000035697
AA Change: P265S

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

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox4	C	T	1: 58,279,937 (GRCm39)	R518C	probably damaging	Het
Apbb2	A	T	5: 66,469,592 (GRCm39)		probably null	Het
Arl4c	T	C	1: 88,629,322 (GRCm39)	D22G	probably damaging	Het
Asxl1	A	G	2: 153,242,875 (GRCm39)	T1142A	probably benign	Het
BC035044	T	C	6: 128,861,949 (GRCm39)		probably benign	Het
Bmp4	T	C	14: 46,621,458 (GRCm39)	N362S	probably damaging	Het
Cbll1	G	T	12: 31,537,912 (GRCm39)	T280N	probably damaging	Het
Cdh10	A	T	15: 18,986,971 (GRCm39)	T401S	probably benign	Het
Cmklr2	A	G	1: 63,222,326 (GRCm39)	V303A	probably damaging	Het
Cps1	A	T	1: 67,245,952 (GRCm39)	M1148L	probably benign	Het
Crybg1	T	C	10: 43,873,832 (GRCm39)	D1092G	probably damaging	Het
Cyth2	A	G	7: 45,460,126 (GRCm39)	S173P	probably damaging	Het
D6Ertd527e	A	T	6: 87,088,793 (GRCm39)	I319F	unknown	Het
Dchs1	A	T	7: 105,421,384 (GRCm39)	H345Q	probably benign	Het
Ddx50	A	T	10: 62,476,640 (GRCm39)	V211E	probably damaging	Het
Dlx6	AGG	AG	6: 6,865,180 (GRCm39)		probably null	Het
Dnajb5	G	A	4: 42,956,639 (GRCm39)	D109N	possibly damaging	Het
Dner	A	T	1: 84,383,691 (GRCm39)	N564K	probably damaging	Het
Fam234b	T	C	6: 135,186,282 (GRCm39)	S97P	probably benign	Het
Fam53b	G	A	7: 132,317,684 (GRCm39)	R60*	probably null	Het
Fmo3	T	G	1: 162,791,546 (GRCm39)	K244Q	probably benign	Het
Golim4	A	G	3: 75,810,579 (GRCm39)	I192T	possibly damaging	Het
Gprin1	T	C	13: 54,887,576 (GRCm39)	M233V	probably benign	Het
Gtf2f1	A	T	17: 57,310,626 (GRCm39)	V443D	probably damaging	Het
Hmgcs2	T	C	3: 98,187,786 (GRCm39)		probably benign	Het
Ide	T	A	19: 37,292,383 (GRCm39)	I271L	unknown	Het
Kat8	G	A	7: 127,523,988 (GRCm39)	E343K	probably damaging	Het
Kif14	A	G	1: 136,444,141 (GRCm39)	I1378V	probably benign	Het
Lhx3	TCCTACGGGCCGGCCC	TCC	2: 26,091,435 (GRCm39)		probably null	Het
Lhx6	T	C	2: 35,984,222 (GRCm39)		probably null	Het
Lrp2	C	T	2: 69,319,502 (GRCm39)	G2007D	probably damaging	Het
Lrp5	T	C	19: 3,709,304 (GRCm39)	K142R	probably damaging	Het
Macroh2a1	C	G	13: 56,243,936 (GRCm39)		probably null	Het
Mrpl2	G	A	17: 46,960,964 (GRCm39)	R286Q	probably benign	Het
Mtrfr	A	G	5: 124,476,954 (GRCm39)	N83D	probably damaging	Het
Nacad	T	A	11: 6,548,528 (GRCm39)	D1402V	probably damaging	Het
Ndfip2	T	C	14: 105,535,539 (GRCm39)	I275T	possibly damaging	Het
Neb	A	C	2: 52,116,582 (GRCm39)	V4131G	possibly damaging	Het
Nfe2l1	G	A	11: 96,712,934 (GRCm39)	A83V	probably damaging	Het
Nos3	A	G	5: 24,576,625 (GRCm39)	D418G	probably damaging	Het
Or12e7	A	T	2: 87,288,138 (GRCm39)	M210L	probably benign	Het
Or1n1b	T	A	2: 36,780,056 (GRCm39)	K268M	possibly damaging	Het
Plcd4	A	G	1: 74,604,313 (GRCm39)	T764A	probably damaging	Het
Plppr3	G	T	10: 79,701,220 (GRCm39)	P541T	possibly damaging	Het
Polr2a	A	G	11: 69,637,771 (GRCm39)	I191T	possibly damaging	Het
Pramel18	T	C	4: 101,766,436 (GRCm39)	F40S	probably damaging	Het
Rab11fip1	T	C	8: 27,646,402 (GRCm39)	K225E	probably damaging	Het
Rara	A	T	11: 98,857,185 (GRCm39)	Q64L	possibly damaging	Het
Rtkn	G	A	6: 83,126,754 (GRCm39)	V305M	probably damaging	Het
Sh2b1	A	C	7: 126,070,408 (GRCm39)	F399V	probably benign	Het
Slc7a4	T	C	16: 17,393,482 (GRCm39)	T106A	probably damaging	Het
Srcap	G	A	7: 127,129,795 (GRCm39)	G539D	probably damaging	Het
Stab1	C	T	14: 30,869,974 (GRCm39)		probably null	Het
Zfp267	G	A	3: 36,216,814 (GRCm39)	C55Y	possibly 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
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
R5671: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'- CATCCAGGTCAAGGTGTTTGTG -3'
(R):5'- GGCCATGTCTTTTGCATACTGC -3'

Sequencing Primer
(F):5'- TGGGAAGGAGTGGCCATCTC -3'
(R):5'- AGTGCAGCGTCCACACC -3'

Posted On

2016-06-15