Mutagenetix > Incidental Mutation

Incidental Mutation 'R9163:Arhgap35'

695840

Institutional Source

Beutler Lab

Gene Symbol

Arhgap35

Ensembl Gene

ENSMUSG00000058230

Gene Name

Rho GTPase activating protein 35

Synonyms

p190A, 6430596G11Rik, p190RhoGAP, Grlf1, P190 RhoGAP

MMRRC Submission

068975-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9163 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

16228398-16349313 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 16295549 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 1172 (R1172L)

Ref Sequence

ENSEMBL: ENSMUSP00000075242 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075845] [ENSMUST00000171937]

AlphaFold

Q91YM2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075845
AA Change: R1172L

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000075242
Gene: ENSMUSG00000058230
AA Change: R1172L

Domain	Start	End	E-Value	Type
Pfam:Ras	154	249	6.1e-7	PFAM
FF	270	327	5.76e-9	SMART
FF	369	422	1.1e-5	SMART
FF	429	483	7.43e-12	SMART
FF	485	539	2.02e-4	SMART
Blast:RhoGAP	733	796	1e-7	BLAST
low complexity region	1037	1048	N/A	INTRINSIC
low complexity region	1214	1225	N/A	INTRINSIC
low complexity region	1227	1235	N/A	INTRINSIC
RhoGAP	1259	1433	8.14e-72	SMART
low complexity region	1444	1457	N/A	INTRINSIC
low complexity region	1462	1494	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171937
AA Change: R1172L

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000127379
Gene: ENSMUSG00000058230
AA Change: R1172L

Domain	Start	End	E-Value	Type
Pfam:Ras	154	249	6e-7	PFAM
FF	270	327	5.76e-9	SMART
FF	369	422	1.1e-5	SMART
FF	429	483	7.43e-12	SMART
FF	485	539	2.02e-4	SMART
Blast:RhoGAP	733	796	1e-7	BLAST
low complexity region	1037	1048	N/A	INTRINSIC
low complexity region	1214	1225	N/A	INTRINSIC
low complexity region	1227	1235	N/A	INTRINSIC
RhoGAP	1259	1433	8.14e-72	SMART
low complexity region	1444	1457	N/A	INTRINSIC
low complexity region	1462	1494	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (69/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The human glucocorticoid receptor DNA binding factor, which associates with the promoter region of the glucocorticoid receptor gene (hGR gene), is a repressor of glucocorticoid receptor transcription. The amino acid sequence deduced from the cDNA sequences show the presence of three sequence motifs characteristic of a zinc finger and one motif suggestive of a leucine zipper in which 1 cysteine is found instead of all leucines. The GRLF1 enhances the homologous down-regulation of wild-type hGR gene expression. Biochemical analysis suggests that GRLF1 interaction is sequence specific and that transcriptional efficacy of GRLF1 is regulated through its interaction with specific sequence motif. The level of expression is regulated by glucocorticoids. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene usually die within 2 days of birth and never survive beyond 3 weeks. Observed phenotypes include defects in eye morphogenesis, forebrain development, neural tube closure, axon guidance and fasciculation, and renal abnormalities, including hypoplastic and glomerulocystic kidneys, associated with a ciliogenesis defect. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,393,400 (GRCm39)	S351P	possibly damaging	Het
4930558K02Rik	A	G	1: 161,777,174 (GRCm39)	S128P	probably benign	Het
Adam17	C	T	12: 21,401,588 (GRCm39)	V136I	probably benign	Het
Adam19	A	G	11: 46,018,176 (GRCm39)	T413A	probably benign	Het
Adam28	T	C	14: 68,866,531 (GRCm39)	K443E	probably damaging	Het
Adgrv1	T	A	13: 81,567,541 (GRCm39)	T5211S	probably benign	Het
Adnp2	A	T	18: 80,172,200 (GRCm39)	N736K	possibly damaging	Het
Agtpbp1	C	T	13: 59,609,884 (GRCm39)	W1082*	probably null	Het
Ap3b2	T	G	7: 81,113,546 (GRCm39)	M888L	unknown	Het
Arrdc3	T	A	13: 81,041,506 (GRCm39)	D402E	probably benign	Het
Ccdc14	T	C	16: 34,511,118 (GRCm39)	F31L	possibly damaging	Het
Cd5l	T	G	3: 87,274,932 (GRCm39)	L157R	probably benign	Het
Cdc14a	G	T	3: 116,122,213 (GRCm39)	D251E	possibly damaging	Het
Cfap210	A	T	2: 69,606,510 (GRCm39)	I302K	probably benign	Het
Chmp2a	T	A	7: 12,766,645 (GRCm39)	Q91L	possibly damaging	Het
Col12a1	A	G	9: 79,548,729 (GRCm39)		probably null	Het
Ctdsp1	G	T	1: 74,434,126 (GRCm39)	R201L	possibly damaging	Het
Dhx15	C	T	5: 52,342,198 (GRCm39)	R40H	probably damaging	Het
Dnph1	A	G	17: 46,809,860 (GRCm39)	Y134C	probably damaging	Het
Foxo1	T	A	3: 52,253,301 (GRCm39)	V488D	probably benign	Het
Gcn1	C	A	5: 115,742,944 (GRCm39)	N1538K	probably benign	Het
Gldc	T	A	19: 30,111,686 (GRCm39)	E500V	probably benign	Het
Hhip	G	A	8: 80,701,743 (GRCm39)	T597I	probably benign	Het
Hmgn1	A	G	16: 95,928,509 (GRCm39)		probably null	Het
Ifi205	A	T	1: 173,844,988 (GRCm39)	S265T	possibly damaging	Het
Igkv1-131	T	C	6: 67,743,753 (GRCm39)	M2V	probably benign	Het
Irgm2	T	G	11: 58,111,280 (GRCm39)	S324A	probably damaging	Het
Jarid2	C	G	13: 45,064,727 (GRCm39)	D937E	possibly damaging	Het
Jrkl	A	T	9: 13,245,404 (GRCm39)	W86R	probably damaging	Het
Kbtbd3	A	G	9: 4,330,584 (GRCm39)	I319M	probably benign	Het
Klhl7	T	C	5: 24,364,465 (GRCm39)	Y500H	probably damaging	Het
Lats1	C	T	10: 7,578,052 (GRCm39)	A392V	probably benign	Het
Llgl1	G	T	11: 60,600,402 (GRCm39)	A584S	probably benign	Het
Macf1	G	T	4: 123,403,686 (GRCm39)	S560Y	probably damaging	Het
Or4c11	C	T	2: 88,695,795 (GRCm39)	P282L	possibly damaging	Het
Or8c10	T	A	9: 38,279,378 (GRCm39)	C169S	probably damaging	Het
Pde10a	G	A	17: 9,181,791 (GRCm39)	C498Y	possibly damaging	Het
Pde4dip	A	G	3: 97,659,123 (GRCm39)		probably null	Het
Pdhx	G	A	2: 102,852,561 (GRCm39)	P434L	probably damaging	Het
Pdlim3	T	C	8: 46,338,711 (GRCm39)		probably null	Het
Pik3c3	T	C	18: 30,427,483 (GRCm39)		probably null	Het
Prkag1	T	C	15: 98,711,900 (GRCm39)	K242R	possibly damaging	Het
Rap1b	A	G	10: 117,654,391 (GRCm39)	S150P	possibly damaging	Het
Scn4a	A	G	11: 106,217,076 (GRCm39)	S1102P	probably damaging	Het
Scrib	A	G	15: 75,921,108 (GRCm39)	Y1332H	probably damaging	Het
Sim1	A	G	10: 50,772,165 (GRCm39)	E58G	probably benign	Het
Slc13a1	C	T	6: 24,097,578 (GRCm39)		probably null	Het
Slc17a8	A	G	10: 89,425,444 (GRCm39)	V380A	probably damaging	Het
Slc5a4b	G	T	10: 75,917,165 (GRCm39)	Y290*	probably null	Het
Slco4c1	A	G	1: 96,764,633 (GRCm39)	F480L	probably damaging	Het
Srcap	T	C	7: 127,121,162 (GRCm39)	V146A	unknown	Het
Ssc5d	T	A	7: 4,936,432 (GRCm39)	D559E	probably damaging	Het
Sstr5	A	C	17: 25,710,584 (GRCm39)	I215S	probably damaging	Het
Stambpl1	G	A	19: 34,212,634 (GRCm39)	C268Y	probably benign	Het
Stard3nl	C	A	13: 19,560,809 (GRCm39)		probably benign	Het
Sycp3	T	C	10: 88,299,734 (GRCm39)		probably null	Het
Syne2	A	T	12: 76,009,349 (GRCm39)	M2417L	possibly damaging	Het
Tenm4	T	G	7: 96,473,080 (GRCm39)	Y959D	probably damaging	Het
Tmem132d	T	A	5: 127,869,570 (GRCm39)	D588V	possibly damaging	Het
Tnfrsf26	T	C	7: 143,172,130 (GRCm39)	E60G	possibly damaging	Het
Topbp1	A	G	9: 103,205,767 (GRCm39)	R802G	probably benign	Het
Trmu	T	C	15: 85,781,096 (GRCm39)	V360A	probably benign	Het
Tshz2	G	A	2: 169,726,562 (GRCm39)	C386Y	probably damaging	Het
Ttn	A	T	2: 76,700,771 (GRCm39)	D61E		Het
Upf1	T	C	8: 70,792,674 (GRCm39)	T345A	probably benign	Het
Vmn2r23	T	A	6: 123,718,782 (GRCm39)	C712S	probably damaging	Het
Vmn2r44	C	T	7: 8,371,091 (GRCm39)	V652I	probably benign	Het
Wfdc1	T	C	8: 120,393,302 (GRCm39)	V8A	probably benign	Het
Xrn1	A	G	9: 95,880,274 (GRCm39)	Y738C	probably benign	Het
Zfp618	T	G	4: 63,051,511 (GRCm39)	V764G	probably damaging	Het
Znfx1	A	T	2: 166,898,261 (GRCm39)	M221K	probably damaging	Het

Other mutations in Arhgap35

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00557:Arhgap35	APN	7	16,298,340 (GRCm39)	missense	probably benign	0.03
IGL00684:Arhgap35	APN	7	16,295,625 (GRCm39)	missense	possibly damaging	0.93
IGL01385:Arhgap35	APN	7	16,298,399 (GRCm39)	missense	probably damaging	0.96
IGL01411:Arhgap35	APN	7	16,298,192 (GRCm39)	missense	probably benign
IGL01922:Arhgap35	APN	7	16,298,180 (GRCm39)	missense	possibly damaging	0.73
IGL01977:Arhgap35	APN	7	16,297,128 (GRCm39)	missense	probably damaging	1.00
IGL02074:Arhgap35	APN	7	16,296,980 (GRCm39)	missense	probably benign	0.19
IGL02305:Arhgap35	APN	7	16,297,590 (GRCm39)	missense	probably benign	0.15
IGL02342:Arhgap35	APN	7	16,296,305 (GRCm39)	missense	probably benign	0.12
IGL02973:Arhgap35	APN	7	16,296,803 (GRCm39)	missense	possibly damaging	0.50
IGL02989:Arhgap35	APN	7	16,231,580 (GRCm39)	makesense	probably null
PIT4382001:Arhgap35	UTSW	7	16,297,794 (GRCm39)	missense	possibly damaging	0.95
PIT4431001:Arhgap35	UTSW	7	16,295,536 (GRCm39)	missense	possibly damaging	0.87
R0047:Arhgap35	UTSW	7	16,295,917 (GRCm39)	missense	probably benign	0.17
R1690:Arhgap35	UTSW	7	16,297,206 (GRCm39)	missense	probably damaging	1.00
R1820:Arhgap35	UTSW	7	16,295,874 (GRCm39)	missense	possibly damaging	0.92
R2036:Arhgap35	UTSW	7	16,297,058 (GRCm39)	missense	probably damaging	1.00
R2205:Arhgap35	UTSW	7	16,231,950 (GRCm39)	splice site	probably null
R2292:Arhgap35	UTSW	7	16,297,476 (GRCm39)	missense	probably damaging	1.00
R3079:Arhgap35	UTSW	7	16,296,501 (GRCm39)	missense	probably damaging	1.00
R3745:Arhgap35	UTSW	7	16,297,647 (GRCm39)	missense	probably damaging	1.00
R3762:Arhgap35	UTSW	7	16,299,000 (GRCm39)	missense	probably damaging	0.98
R4661:Arhgap35	UTSW	7	16,298,663 (GRCm39)	missense	probably damaging	1.00
R4709:Arhgap35	UTSW	7	16,297,511 (GRCm39)	missense	probably damaging	0.97
R4749:Arhgap35	UTSW	7	16,232,551 (GRCm39)	missense	possibly damaging	0.95
R5081:Arhgap35	UTSW	7	16,299,059 (GRCm39)	missense	possibly damaging	0.71
R5131:Arhgap35	UTSW	7	16,245,112 (GRCm39)	splice site	probably null
R5175:Arhgap35	UTSW	7	16,296,524 (GRCm39)	missense	probably damaging	1.00
R5440:Arhgap35	UTSW	7	16,296,849 (GRCm39)	missense	probably damaging	1.00
R5517:Arhgap35	UTSW	7	16,297,414 (GRCm39)	missense	probably damaging	1.00
R5987:Arhgap35	UTSW	7	16,297,392 (GRCm39)	missense	possibly damaging	0.84
R6087:Arhgap35	UTSW	7	16,297,568 (GRCm39)	missense	probably damaging	1.00
R6139:Arhgap35	UTSW	7	16,297,392 (GRCm39)	missense	possibly damaging	0.84
R6396:Arhgap35	UTSW	7	16,296,224 (GRCm39)	missense	probably damaging	0.99
R6878:Arhgap35	UTSW	7	16,299,038 (GRCm39)	missense	probably benign	0.00
R7063:Arhgap35	UTSW	7	16,299,038 (GRCm39)	missense	probably benign	0.00
R7150:Arhgap35	UTSW	7	16,296,491 (GRCm39)	missense	probably damaging	0.96
R7269:Arhgap35	UTSW	7	16,295,652 (GRCm39)	missense	probably benign
R7276:Arhgap35	UTSW	7	16,298,493 (GRCm39)	missense	probably damaging	1.00
R7517:Arhgap35	UTSW	7	16,296,132 (GRCm39)	missense	probably benign	0.31
R7593:Arhgap35	UTSW	7	16,298,786 (GRCm39)	missense	probably damaging	1.00
R7775:Arhgap35	UTSW	7	16,296,573 (GRCm39)	missense	probably benign	0.01
R7792:Arhgap35	UTSW	7	16,295,453 (GRCm39)	missense	possibly damaging	0.88
R8101:Arhgap35	UTSW	7	16,296,244 (GRCm39)	missense	probably benign	0.00
R8873:Arhgap35	UTSW	7	16,295,415 (GRCm39)	missense	possibly damaging	0.92
R8956:Arhgap35	UTSW	7	16,348,404 (GRCm39)	start gained	probably benign
R9507:Arhgap35	UTSW	7	16,297,343 (GRCm39)	missense	probably benign	0.31
R9667:Arhgap35	UTSW	7	16,296,914 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AAATCTCAAACGGATGCTGTGC -3'
(R):5'- GGGCAAGATCATTACCATTCGG -3'

Sequencing Primer
(F):5'- ACGGATGCTGTGCAAACC -3'
(R):5'- GCAAGATCATTACCATTCGGAACATC -3'

Posted On

2022-02-07