Mutagenetix > Incidental Mutation

Incidental Mutation 'R9717:Arhgap29'

730511

Institutional Source

Beutler Lab

Gene Symbol

Arhgap29

Ensembl Gene

ENSMUSG00000039831

Gene Name

Rho GTPase activating protein 29

Synonyms

C76601, Parg1, B130017I01Rik, 6720461J18Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9717 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121746752-121810326 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121797920 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 537 (F537L)

Ref Sequence

ENSEMBL: ENSMUSP00000044624 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037958] [ENSMUST00000197155]

AlphaFold

Q8CGF1

Predicted Effect

probably benign
Transcript: ENSMUST00000037958
AA Change: F537L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000044624
Gene: ENSMUSG00000039831
AA Change: F537L

Domain	Start	End	E-Value	Type
low complexity region	5	12	N/A	INTRINSIC
PDB:3QWE\|A	193	469	5e-41	PDB
Blast:RhoGAP	412	595	9e-84	BLAST
C1	613	659	2.48e-6	SMART
RhoGAP	684	885	1.92e-68	SMART
low complexity region	947	961	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000197155
AA Change: F537L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000142945
Gene: ENSMUSG00000039831
AA Change: F537L

Domain	Start	End	E-Value	Type
low complexity region	5	12	N/A	INTRINSIC
PDB:3QWE\|A	193	469	8e-42	PDB
Blast:RhoGAP	412	595	2e-87	BLAST
C1	613	659	2.48e-6	SMART
RhoGAP	684	780	1.14e-6	SMART

Predicted Effect

Coding Region Coverage

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

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Rap1 is a small GTPase that, through effectors, regulates Rho GTPase signaling. These effectors- Rasip1, Radil, and the protein encoded by this gene- translocate to the cell membrane, where they form a multiprotein complex. This complex is necessary for Rap1-induced inhibition of Rho signaling. Defects in this gene may be a cause of nonsyndromic cleft lip with or without cleft palate. [provided by RefSeq, Jun 2016]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	A	13: 81,668,900 (GRCm39)	N2552I	probably damaging	Het
Amph	G	T	13: 19,309,253 (GRCm39)	A444S	probably benign	Het
Ankrd52	A	G	10: 128,216,457 (GRCm39)	N157S	probably benign	Het
Asic1	A	C	15: 99,590,657 (GRCm39)	T136P	probably damaging	Het
Atg2b	T	C	12: 105,605,561 (GRCm39)	Y1468C	probably benign	Het
Atm	A	G	9: 53,427,817 (GRCm39)	L431P	probably damaging	Het
Atosb	T	C	4: 43,036,050 (GRCm39)	H227R	probably damaging	Het
Btaf1	A	G	19: 36,922,646 (GRCm39)	T17A	probably benign	Het
Car10	A	G	11: 93,195,367 (GRCm39)	N58S	probably benign	Het
Cd79b	A	T	11: 106,202,845 (GRCm39)	D252E	probably damaging	Het
Cdipt	C	T	7: 126,576,202 (GRCm39)		probably benign	Het
Cebpe	T	C	14: 54,949,165 (GRCm39)	D84G	probably damaging	Het
Cenpj	T	C	14: 56,790,453 (GRCm39)	E532G	probably benign	Het
Cherp	A	G	8: 73,216,920 (GRCm39)		probably null	Het
Chuk	T	C	19: 44,071,109 (GRCm39)	D532G	possibly damaging	Het
Clec1b	C	T	6: 129,374,603 (GRCm39)	T9I	probably benign	Het
Clspn	G	T	4: 126,458,756 (GRCm39)	A280S	possibly damaging	Het
Cts3	T	G	13: 61,712,799 (GRCm39)	Y307S	probably benign	Het
Cyp2c39	T	C	19: 39,556,493 (GRCm39)	M443T	possibly damaging	Het
Dhx57	C	T	17: 80,582,447 (GRCm39)	R386H	probably damaging	Het
Dhx58	A	T	11: 100,592,133 (GRCm39)	M305K	probably benign	Het
Dlgap3	T	C	4: 127,129,287 (GRCm39)	L894P	probably damaging	Het
Dnah3	A	T	7: 119,574,299 (GRCm39)	N2164K	probably damaging	Het
Dnajb14	A	G	3: 137,608,044 (GRCm39)	N183S	probably benign	Het
Drd5	G	T	5: 38,478,090 (GRCm39)	R361L	probably damaging	Het
Duoxa1	T	C	2: 122,135,622 (GRCm39)	E159G	probably damaging	Het
Exoc1	T	A	5: 76,711,079 (GRCm39)	S659R	probably benign	Het
Fbln7	T	C	2: 128,719,314 (GRCm39)	I37T	probably benign	Het
Fcgrt	T	G	7: 44,744,853 (GRCm39)	E205A	possibly damaging	Het
Fcho2	A	T	13: 98,900,202 (GRCm39)	S304T	probably damaging	Het
Gbp9	C	A	5: 105,253,587 (GRCm39)	G43*	probably null	Het
Gucy2d	A	G	7: 98,123,868 (GRCm39)	K151R	probably benign	Het
Heatr4	T	A	12: 84,024,829 (GRCm39)	I331F	probably damaging	Het
Hmcn1	G	A	1: 150,485,378 (GRCm39)	T4408I	probably damaging	Het
Hoxc9	C	T	15: 102,890,551 (GRCm39)	T156M	probably benign	Het
Hrnr	A	T	3: 93,227,987 (GRCm39)	E35V	probably damaging	Het
Idua	C	T	5: 108,818,037 (GRCm39)	Q70*	probably null	Het
Klf5	A	T	14: 99,539,189 (GRCm39)	I201F	probably damaging	Het
Lonrf1	T	C	8: 36,701,164 (GRCm39)	K349E	probably damaging	Het
Lrp1b	A	T	2: 41,158,395 (GRCm39)	D1721E		Het
Mdh1	T	A	11: 21,521,870 (GRCm39)		probably benign	Het
Mllt11	T	C	3: 95,127,521 (GRCm39)	H83R	probably benign	Het
Mrgprb4	A	C	7: 47,848,583 (GRCm39)	I115S	possibly damaging	Het
Mrpl38	A	G	11: 116,023,296 (GRCm39)	F319S	probably damaging	Het
Naif1	A	T	2: 32,344,907 (GRCm39)	M204L	probably benign	Het
Ncan	T	A	8: 70,554,628 (GRCm39)	D1063V	probably damaging	Het
Noto	A	T	6: 85,401,327 (GRCm39)	R119W	possibly damaging	Het
Or4c115	G	A	2: 88,927,573 (GRCm39)	L233F	probably benign	Het
Or51h7	A	T	7: 102,591,165 (GRCm39)	D206E	probably damaging	Het
Or6c69	T	A	10: 129,748,048 (GRCm39)	Y33F	probably damaging	Het
Or8b3	A	T	9: 38,314,841 (GRCm39)	I224F	probably damaging	Het
Ovch2	A	G	7: 107,393,584 (GRCm39)	W181R	probably damaging	Het
Palm	G	C	10: 79,655,117 (GRCm39)	G292R	probably damaging	Het
Pdgfrb	T	A	18: 61,205,787 (GRCm39)	L591*	probably null	Het
Pik3c2g	T	C	6: 139,841,910 (GRCm39)	S772P		Het
Prx	C	A	7: 27,217,411 (GRCm39)	D776E	probably benign	Het
Ptpra	A	G	2: 130,384,366 (GRCm39)	E562G	possibly damaging	Het
Rbm4b	A	G	19: 4,807,359 (GRCm39)	Y25C	probably damaging	Het
Reln	T	C	5: 22,136,427 (GRCm39)	T2534A	probably benign	Het
Rnf123	T	C	9: 107,954,963 (GRCm39)	S14G	probably benign	Het
Rock2	A	G	12: 17,015,602 (GRCm39)	H833R	probably benign	Het
Rxfp3	A	G	15: 11,037,111 (GRCm39)	V87A	possibly damaging	Het
S100b	G	A	10: 76,092,936 (GRCm39)	G23D	probably damaging	Het
Scn9a	T	A	2: 66,357,002 (GRCm39)	M1100L	probably benign	Het
Septin11	T	A	5: 93,296,266 (GRCm39)	S55T	possibly damaging	Het
Speer4a3	T	C	5: 26,154,829 (GRCm39)	E257G	probably damaging	Het
Sv2b	T	A	7: 74,769,676 (GRCm39)	Q622L	probably benign	Het
Taar7a	T	C	10: 23,868,799 (GRCm39)	D194G	probably benign	Het
Trappc3	T	C	4: 126,169,014 (GRCm39)	I168T	probably benign	Het
Trim27	T	C	13: 21,374,296 (GRCm39)		probably null	Het
Wdr49	G	A	3: 75,304,359 (GRCm39)	T109I	probably benign	Het
Wdr64	T	C	1: 175,544,854 (GRCm39)	Y96H	probably damaging	Het
Zfp219	A	T	14: 52,247,049 (GRCm39)	L26Q	probably damaging	Het
Zfp758	T	A	17: 22,593,829 (GRCm39)	V105D	possibly damaging	Het
Zfp975	C	G	7: 42,312,332 (GRCm39)	E94Q	possibly damaging	Het
Zfyve9	C	T	4: 108,539,334 (GRCm39)	A289T	probably benign	Het
Zscan5b	T	C	7: 6,234,525 (GRCm39)	S184P	possibly damaging	Het

Other mutations in Arhgap29

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00492:Arhgap29	APN	3	121,796,961 (GRCm39)	nonsense	probably null
IGL01121:Arhgap29	APN	3	121,803,512 (GRCm39)	missense	probably damaging	1.00
IGL01622:Arhgap29	APN	3	121,767,773 (GRCm39)	splice site	probably benign
IGL01623:Arhgap29	APN	3	121,767,773 (GRCm39)	splice site	probably benign
IGL01995:Arhgap29	APN	3	121,807,977 (GRCm39)	missense	probably benign	0.00
IGL02120:Arhgap29	APN	3	121,797,906 (GRCm39)	missense	probably benign	0.05
IGL02554:Arhgap29	APN	3	121,786,173 (GRCm39)	unclassified	probably benign
IGL02931:Arhgap29	APN	3	121,786,509 (GRCm39)	missense	probably benign
IGL02937:Arhgap29	APN	3	121,767,698 (GRCm39)	missense	probably damaging	0.99
PIT4362001:Arhgap29	UTSW	3	121,796,861 (GRCm39)	missense	probably benign	0.42
R0022:Arhgap29	UTSW	3	121,782,586 (GRCm39)	missense	possibly damaging	0.61
R0574:Arhgap29	UTSW	3	121,801,274 (GRCm39)	missense	probably benign	0.01
R0601:Arhgap29	UTSW	3	121,784,759 (GRCm39)	missense	probably damaging	1.00
R0639:Arhgap29	UTSW	3	121,801,290 (GRCm39)	missense	probably damaging	1.00
R0881:Arhgap29	UTSW	3	121,808,328 (GRCm39)	missense	probably damaging	1.00
R1232:Arhgap29	UTSW	3	121,796,989 (GRCm39)	missense	probably damaging	1.00
R1295:Arhgap29	UTSW	3	121,786,044 (GRCm39)	missense	probably benign	0.27
R1296:Arhgap29	UTSW	3	121,786,044 (GRCm39)	missense	probably benign	0.27
R1403:Arhgap29	UTSW	3	121,767,578 (GRCm39)	missense	probably damaging	1.00
R1403:Arhgap29	UTSW	3	121,767,578 (GRCm39)	missense	probably damaging	1.00
R1470:Arhgap29	UTSW	3	121,785,968 (GRCm39)	unclassified	probably benign
R1710:Arhgap29	UTSW	3	121,801,729 (GRCm39)	missense	probably damaging	1.00
R1878:Arhgap29	UTSW	3	121,805,020 (GRCm39)	missense	probably damaging	1.00
R2051:Arhgap29	UTSW	3	121,775,509 (GRCm39)	missense	probably benign	0.01
R2112:Arhgap29	UTSW	3	121,805,210 (GRCm39)	missense	probably benign	0.03
R2188:Arhgap29	UTSW	3	121,784,658 (GRCm39)	missense	probably damaging	1.00
R2240:Arhgap29	UTSW	3	121,805,102 (GRCm39)	missense	probably benign	0.12
R2420:Arhgap29	UTSW	3	121,767,629 (GRCm39)	missense	probably benign
R3618:Arhgap29	UTSW	3	121,782,176 (GRCm39)	missense	possibly damaging	0.62
R4673:Arhgap29	UTSW	3	121,808,620 (GRCm39)	missense	probably damaging	1.00
R4717:Arhgap29	UTSW	3	121,803,607 (GRCm39)	missense	possibly damaging	0.82
R5028:Arhgap29	UTSW	3	121,803,709 (GRCm39)	critical splice donor site	probably null
R5043:Arhgap29	UTSW	3	121,767,653 (GRCm39)	missense	probably benign	0.00
R5045:Arhgap29	UTSW	3	121,796,244 (GRCm39)	missense	probably benign	0.28
R5463:Arhgap29	UTSW	3	121,782,200 (GRCm39)	missense	possibly damaging	0.94
R5495:Arhgap29	UTSW	3	121,808,578 (GRCm39)	missense	probably damaging	1.00
R5743:Arhgap29	UTSW	3	121,775,560 (GRCm39)	missense	probably damaging	1.00
R5791:Arhgap29	UTSW	3	121,807,894 (GRCm39)	missense	probably damaging	0.98
R5896:Arhgap29	UTSW	3	121,805,736 (GRCm39)	missense	possibly damaging	0.78
R6083:Arhgap29	UTSW	3	121,786,397 (GRCm39)	missense	probably benign	0.00
R6355:Arhgap29	UTSW	3	121,804,907 (GRCm39)	missense	possibly damaging	0.46
R6451:Arhgap29	UTSW	3	121,787,230 (GRCm39)	missense	probably damaging	1.00
R6528:Arhgap29	UTSW	3	121,808,351 (GRCm39)	missense	probably benign	0.13
R7239:Arhgap29	UTSW	3	121,782,599 (GRCm39)	missense	probably benign	0.16
R7669:Arhgap29	UTSW	3	121,786,461 (GRCm39)	missense	probably damaging	1.00
R7807:Arhgap29	UTSW	3	121,807,981 (GRCm39)	missense	probably benign	0.01
R8045:Arhgap29	UTSW	3	121,801,211 (GRCm39)	synonymous	silent
R8048:Arhgap29	UTSW	3	121,786,550 (GRCm39)	missense	probably damaging	1.00
R8165:Arhgap29	UTSW	3	121,782,222 (GRCm39)	missense	probably damaging	0.98
R9001:Arhgap29	UTSW	3	121,775,523 (GRCm39)	missense	probably benign	0.03
R9032:Arhgap29	UTSW	3	121,808,249 (GRCm39)	missense	probably benign
R9060:Arhgap29	UTSW	3	121,783,973 (GRCm39)	missense	probably damaging	0.99
R9085:Arhgap29	UTSW	3	121,808,249 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTACCTGTAGGCAAGGGTT -3'
(R):5'- ACATATGCATGTATATTCGCTTATGT -3'

Sequencing Primer
(F):5'- TCCATCCACTGTTGAATGAAGC -3'
(R):5'- CGCTTATGTCTGAGATAGTTCAAAC -3'

Posted On

2022-10-06