Mutagenetix > Incidental Mutations

Incidental Mutation 'R2567:Rhpn2'

254548

Institutional Source

Beutler Lab

Gene Symbol

Rhpn2

Ensembl Gene

ENSMUSG00000030494

Gene Name

rhophilin, Rho GTPase binding protein 2

Synonyms

D7Ertd784e, 1300002E07Rik

MMRRC Submission

040426-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.397) question?

Stock #

R2567 (G1)

Quality Score

216

Status

Not validated

Chromosome

Chromosomal Location

35334170-35392289 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 35381532 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000082692 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032705] [ENSMUST00000085556]

Predicted Effect

probably null
Transcript: ENSMUST00000032705

SMART Domains

Protein: ENSMUSP00000032705
Gene: ENSMUSG00000030494

Domain	Start	End	E-Value	Type
Hr1	38	101	2.42e-12	SMART
BRO1	111	513	1.27e-167	SMART
PDZ	524	594	1.73e-9	SMART
low complexity region	623	637	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000085556

SMART Domains

Protein: ENSMUSP00000082692
Gene: ENSMUSG00000030494

Domain	Start	End	E-Value	Type
Hr1	38	101	2.42e-12	SMART
BRO1	111	513	1.27e-167	SMART
PDZ	524	594	1.73e-9	SMART
low complexity region	623	637	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155140

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187997

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the rhophilin family of Ras-homologous (Rho)-GTPase binding proteins. The encoded protein binds both GTP- and GDP-bound RhoA and GTP-bound RhoB and may be involved in the organization of the actin cytoskeleton. [provided by RefSeq, Apr 2009]
PHENOTYPE: Homozygous null mice are fertile and have normal body weight and size, normal thyroid morphology and function, and normal brain, lung, ovary, testis, and kidney morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp1	A	G	11: 5,870,251	D409G	probably benign	Het
Akap10	A	G	11: 61,893,349		probably benign	Het
Akap6	G	T	12: 52,938,373	S863I	probably damaging	Het
Ap1s3	T	C	1: 79,625,204	K29E	possibly damaging	Het
Atm	T	A	9: 53,457,470	I2341L	possibly damaging	Het
Atp12a	A	T	14: 56,386,927	D944V	probably damaging	Het
Baz2b	A	T	2: 59,913,911	S1417T	possibly damaging	Het
C130079G13Rik	A	G	3: 59,929,054		probably benign	Het
Cacna1a	T	A	8: 84,549,725	M613K	probably damaging	Het
Ccdc191	A	C	16: 43,943,967		probably null	Het
Cd209d	T	A	8: 3,876,327	N96I	probably damaging	Het
Cdh15	G	A	8: 122,862,024	R279Q	probably damaging	Het
Cdk4	T	G	10: 127,064,276	V14G	probably benign	Het
Chrna10	C	A	7: 102,112,069	M438I	probably benign	Het
Clec10a	T	C	11: 70,169,532		probably null	Het
Cog3	A	G	14: 75,754,290	V40A	probably benign	Het
Creb3l3	T	C	10: 81,086,049	H315R	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,741,236		probably null	Het
Cubn	A	G	2: 13,278,356		probably null	Het
Cygb	T	C	11: 116,649,866	D98G	probably damaging	Het
Dmbx1	T	C	4: 115,920,292	K120E	probably damaging	Het
Dnah3	T	A	7: 119,952,697	I2800F	possibly damaging	Het
Dntt	G	T	19: 41,041,336	R245L	possibly damaging	Het
Dock1	T	G	7: 135,145,484	V1508G	probably damaging	Het
Enpp4	A	C	17: 44,101,845	I266R	probably damaging	Het
Fhl4	T	C	10: 85,098,780	I46V	possibly damaging	Het
Fn1	G	A	1: 71,597,736	Q1995*	probably null	Het
Foxo1	T	A	3: 52,269,334	L178H	probably damaging	Het
Galnt18	C	T	7: 111,554,616	R267H	probably damaging	Het
Gm1110	T	C	9: 26,920,696	D53G	probably benign	Het
Gm12666	T	C	4: 92,191,323	E87G	probably benign	Het
Gm5294	A	G	5: 138,820,185	S36G	probably null	Het
Gm7104	A	T	12: 88,285,472		noncoding transcript	Het
H2-M11	C	T	17: 36,548,150	T194I	possibly damaging	Het
Haus6	C	A	4: 86,585,885	E501*	probably null	Het
Ifna5	T	C	4: 88,835,910	V129A	probably benign	Het
Kdelr3	A	G	15: 79,522,831	I38V	probably benign	Het
Lamb1	A	G	12: 31,269,055		probably null	Het
Mgat4c	T	A	10: 102,378,262	F35L	probably benign	Het
Mmab	A	T	5: 114,433,317	M166K	probably benign	Het
Mrpl2	A	G	17: 46,647,501	T70A	probably benign	Het
Naa11	C	T	5: 97,391,759	G180D	probably benign	Het
Npy6r	T	C	18: 44,275,821	V103A	possibly damaging	Het
Nup188	A	T	2: 30,341,782	R1463W	possibly damaging	Het
Nusap1	T	A	2: 119,643,830	S336R	possibly damaging	Het
Olfr876	T	A	9: 37,804,213	F101I	probably damaging	Het
Pabpc4	T	A	4: 123,297,951	L589Q	probably damaging	Het
Pcdh12	T	A	18: 38,282,096	N659Y	probably damaging	Het
Perm1	T	C	4: 156,217,118	S40P	probably damaging	Het
Phldb1	T	C	9: 44,726,025	T114A	probably damaging	Het
Pirt	C	T	11: 66,926,159	L99F	probably damaging	Het
Plxdc2	A	G	2: 16,712,184	R360G	probably benign	Het
Rpusd2	T	A	2: 119,037,075	I268N	probably damaging	Het
Sds	G	T	5: 120,481,581	W185L	probably damaging	Het
Serpinb5	A	G	1: 106,875,146	K137R	probably benign	Het
Sh3pxd2a	A	G	19: 47,424,569	V25A	possibly damaging	Het
Slc1a2	C	T	2: 102,767,010	T454I	probably damaging	Het
Slc25a40	T	C	5: 8,430,459	C70R	probably damaging	Het
Smoc1	G	A	12: 81,167,590	E260K	probably damaging	Het
Sparcl1	A	T	5: 104,085,088	F616I	probably damaging	Het
Ssc5d	A	T	7: 4,936,335	D590V	probably damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Trpm2	C	T	10: 77,941,174	V430M	probably damaging	Het
Ttn	T	C	2: 76,744,328	D25407G	probably damaging	Het
Vmn2r68	T	C	7: 85,234,595	I101V	probably benign	Het
Xrcc4	A	T	13: 90,062,142	M61K	probably damaging	Het
Zfp648	A	G	1: 154,204,949	T285A	probably damaging	Het

Other mutations in Rhpn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Rhpn2	APN	7	35370760	missense	probably damaging	1.00
IGL01718:Rhpn2	APN	7	35370754	missense	probably benign	0.03
IGL01833:Rhpn2	APN	7	35376171	missense	probably benign	0.04
IGL02134:Rhpn2	APN	7	35371111	splice site	probably benign
IGL02725:Rhpn2	APN	7	35379606	missense	probably damaging	0.99
PIT4382001:Rhpn2	UTSW	7	35390753	critical splice acceptor site	probably null
R0433:Rhpn2	UTSW	7	35385474	missense	probably benign	0.00
R1659:Rhpn2	UTSW	7	35377041	missense	probably damaging	1.00
R1836:Rhpn2	UTSW	7	35372388	missense	probably benign	0.30
R2110:Rhpn2	UTSW	7	35377008	missense	probably benign	0.01
R4302:Rhpn2	UTSW	7	35390845	missense	probably benign	0.01
R4717:Rhpn2	UTSW	7	35334350	missense	possibly damaging	0.87
R4832:Rhpn2	UTSW	7	35376349	critical splice donor site	probably null
R4890:Rhpn2	UTSW	7	35390803	missense	probably benign	0.01
R5119:Rhpn2	UTSW	7	35371124	missense	probably damaging	1.00
R5285:Rhpn2	UTSW	7	35381565	intron	probably benign
R5563:Rhpn2	UTSW	7	35371227	missense	probably damaging	0.98
R5578:Rhpn2	UTSW	7	35370710	missense	probably damaging	1.00
R6061:Rhpn2	UTSW	7	35376211	missense	possibly damaging	0.82
R6405:Rhpn2	UTSW	7	35372439	missense	probably benign	0.02
R6700:Rhpn2	UTSW	7	35376169	missense	possibly damaging	0.91
R6776:Rhpn2	UTSW	7	35383769	splice site	probably null
R7326:Rhpn2	UTSW	7	35385463	missense	probably benign	0.00
R7342:Rhpn2	UTSW	7	35334346	missense	probably damaging	1.00
R7455:Rhpn2	UTSW	7	35371244	splice site	probably null
R7849:Rhpn2	UTSW	7	35381487	missense	probably benign	0.11
R8750:Rhpn2	UTSW	7	35376255	missense	probably benign	0.07
Z1177:Rhpn2	UTSW	7	35334373	missense	probably benign
Z1177:Rhpn2	UTSW	7	35334374	missense	probably benign	0.00
Z1186:Rhpn2	UTSW	7	35385401	missense	probably benign	0.00
Z1191:Rhpn2	UTSW	7	35385401	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTTTCACGAGGAGTCACTGAG -3'
(R):5'- GAAAGGGTAAGAGCCTCACC -3'

Sequencing Primer
(F):5'- TCACTGAGGGAGGCCAAC -3'
(R):5'- GCTGGCCTTGACTTTAAAGCAATC -3'

Posted On

2014-12-04