Mutagenetix > Incidental Mutation

Incidental Mutation 'R7455:Rhpn2'

605582

Institutional Source

Beutler Lab

Gene Symbol

Rhpn2

Ensembl Gene

ENSMUSG00000030494

Gene Name

rhophilin, Rho GTPase binding protein 2

Synonyms

D7Ertd784e, 1300002E07Rik

MMRRC Submission

045529-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.248) question?

Stock #

R7455 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35033605-35091712 bp(+) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to A at 35070669 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000082692 (fasta)

Gene Model

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

AlphaFold

Q8BWR8

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

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

Validation Efficiency

98% (62/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl1	C	T	7: 76,074,503 (GRCm39)	H646Y	unknown	Het
Ak5	C	T	3: 152,187,209 (GRCm39)	R426H	probably damaging	Het
Akap9	T	C	5: 4,022,792 (GRCm39)	V1207A	probably benign	Het
Asph	A	T	4: 9,531,732 (GRCm39)		probably null	Het
Avpr1a	T	G	10: 122,285,169 (GRCm39)	C154G	probably damaging	Het
Boll	T	C	1: 55,339,262 (GRCm39)	Q283R	probably benign	Het
Cad	C	T	5: 31,231,506 (GRCm39)	P1743S	probably damaging	Het
Ccdc137	T	G	11: 120,350,985 (GRCm39)	M129R	probably damaging	Het
Cdh23	A	G	10: 60,142,003 (GRCm39)	I3028T	possibly damaging	Het
Cep68	T	A	11: 20,180,571 (GRCm39)	I687F	probably damaging	Het
Ces2a	T	A	8: 105,464,154 (GRCm39)	I262N	probably damaging	Het
Cfap44	A	G	16: 44,225,147 (GRCm39)		probably benign	Het
Cfap69	T	G	5: 5,675,873 (GRCm39)	H247P	possibly damaging	Het
Cideb	T	C	14: 55,992,292 (GRCm39)	T134A	probably damaging	Het
Cilp2	A	T	8: 70,333,721 (GRCm39)	D1092E	probably damaging	Het
Cptp	G	A	4: 155,950,957 (GRCm39)	R170C	probably damaging	Het
Cysrt1	A	G	2: 25,129,422 (GRCm39)	L30S	probably benign	Het
Dcc	A	G	18: 71,553,394 (GRCm39)	V754A	probably benign	Het
Entrep2	A	G	7: 64,409,161 (GRCm39)	V411A	probably benign	Het
Fer1l5	A	T	1: 36,428,064 (GRCm39)	T453S	probably benign	Het
Fnbp4	ACCACCTCCACCTCCACCTCC	ACCACCTCCACCTCCACCTCCACCTCC	2: 90,608,159 (GRCm39)		probably benign	Het
Frem2	C	T	3: 53,479,701 (GRCm39)		probably null	Het
Gm13941	A	G	2: 110,925,085 (GRCm39)	F173L	unknown	Het
Greb1l	G	A	18: 10,554,915 (GRCm39)	A1654T	probably damaging	Het
Inpp4b	T	A	8: 82,798,332 (GRCm39)	I840N	probably damaging	Het
Kdm4b	T	A	17: 56,703,657 (GRCm39)	I746N	probably damaging	Het
Lins1	C	A	7: 66,361,692 (GRCm39)	H448N	probably benign	Het
Ly9	A	T	1: 171,421,507 (GRCm39)	Y581*	probably null	Het
Mark1	T	A	1: 184,651,947 (GRCm39)	E186V	probably damaging	Het
Mcph1	T	A	8: 18,681,775 (GRCm39)	V304E	probably benign	Het
Mical3	T	C	6: 120,935,705 (GRCm39)	D1607G	probably damaging	Het
Mup18	A	G	4: 61,592,171 (GRCm39)	V31A	probably benign	Het
Nectin3	A	T	16: 46,317,105 (GRCm39)	C11*	probably null	Het
Nedd1	A	T	10: 92,536,787 (GRCm39)	L172M	probably benign	Het
Nim1k	G	A	13: 120,173,995 (GRCm39)	R300W	probably damaging	Het
Oprm1	T	C	10: 6,780,204 (GRCm39)	F289L	probably damaging	Het
Or4c115	G	T	2: 88,927,434 (GRCm39)	P279Q	probably damaging	Het
Or7g12	A	G	9: 18,900,150 (GRCm39)	I289V	possibly damaging	Het
Or8c8	T	C	9: 38,165,550 (GRCm39)	V276A	probably damaging	Het
Parg	T	C	14: 31,931,432 (GRCm39)	Y351H	probably benign	Het
Phf3	A	C	1: 30,876,239 (GRCm39)	V118G	probably damaging	Het
Pik3c2g	T	C	6: 139,913,643 (GRCm39)	Y1014H	unknown	Het
Pmp22	A	G	11: 63,025,339 (GRCm39)		probably null	Het
Ppfibp1	T	A	6: 146,917,848 (GRCm39)	F501L	probably damaging	Het
Rgl2	G	A	17: 34,151,657 (GRCm39)	A234T	probably benign	Het
Ryr3	T	C	2: 112,559,211 (GRCm39)	K3058E	probably damaging	Het
Sbsn	A	T	7: 30,452,602 (GRCm39)	Q539L	possibly damaging	Het
Scgn	G	A	13: 24,150,848 (GRCm39)	R168C	probably benign	Het
Serpinb10	A	G	1: 107,463,832 (GRCm39)	Y38C	probably damaging	Het
Sfmbt2	G	A	2: 10,582,766 (GRCm39)	V709I	probably benign	Het
Slc1a2	A	T	2: 102,566,299 (GRCm39)	M10L	probably benign	Het
Sox6	T	G	7: 115,088,904 (GRCm39)	I653L	probably benign	Het
Tespa1	A	G	10: 130,196,559 (GRCm39)	I166V	probably benign	Het
Tex15	T	C	8: 34,067,025 (GRCm39)	Y2152H	possibly damaging	Het
Tlr9	A	G	9: 106,101,729 (GRCm39)	N340S	probably benign	Het
Tmem198	G	A	1: 75,456,430 (GRCm39)	R28Q	unknown	Het
Tut7	T	C	13: 59,969,871 (GRCm39)	Y8C	probably benign	Het
Vmn2r7	T	C	3: 64,624,014 (GRCm39)	D102G	probably benign	Het
Wdr93	A	G	7: 79,425,267 (GRCm39)	M529V	probably benign	Het
Zfp110	A	G	7: 12,581,984 (GRCm39)	H310R	probably benign	Het
Zfp36l2	A	G	17: 84,494,575 (GRCm39)	S21P	probably damaging	Het
Zfp534	G	A	4: 147,759,212 (GRCm39)	H486Y	probably damaging	Het
Zfp638	G	A	6: 83,907,127 (GRCm39)	V431I	probably damaging	Het

Other mutations in Rhpn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Rhpn2	APN	7	35,070,185 (GRCm39)	missense	probably damaging	1.00
IGL01718:Rhpn2	APN	7	35,070,179 (GRCm39)	missense	probably benign	0.03
IGL01833:Rhpn2	APN	7	35,075,596 (GRCm39)	missense	probably benign	0.04
IGL02134:Rhpn2	APN	7	35,070,536 (GRCm39)	splice site	probably benign
IGL02725:Rhpn2	APN	7	35,079,031 (GRCm39)	missense	probably damaging	0.99
PIT4382001:Rhpn2	UTSW	7	35,090,178 (GRCm39)	critical splice acceptor site	probably null
R0433:Rhpn2	UTSW	7	35,084,899 (GRCm39)	missense	probably benign	0.00
R1659:Rhpn2	UTSW	7	35,076,466 (GRCm39)	missense	probably damaging	1.00
R1836:Rhpn2	UTSW	7	35,071,813 (GRCm39)	missense	probably benign	0.30
R2110:Rhpn2	UTSW	7	35,076,433 (GRCm39)	missense	probably benign	0.01
R2567:Rhpn2	UTSW	7	35,080,957 (GRCm39)	critical splice donor site	probably null
R4302:Rhpn2	UTSW	7	35,090,270 (GRCm39)	missense	probably benign	0.01
R4717:Rhpn2	UTSW	7	35,033,775 (GRCm39)	missense	possibly damaging	0.87
R4832:Rhpn2	UTSW	7	35,075,774 (GRCm39)	critical splice donor site	probably null
R4890:Rhpn2	UTSW	7	35,090,228 (GRCm39)	missense	probably benign	0.01
R5119:Rhpn2	UTSW	7	35,070,549 (GRCm39)	missense	probably damaging	1.00
R5285:Rhpn2	UTSW	7	35,080,990 (GRCm39)	intron	probably benign
R5563:Rhpn2	UTSW	7	35,070,652 (GRCm39)	missense	probably damaging	0.98
R5578:Rhpn2	UTSW	7	35,070,135 (GRCm39)	missense	probably damaging	1.00
R6061:Rhpn2	UTSW	7	35,075,636 (GRCm39)	missense	possibly damaging	0.82
R6405:Rhpn2	UTSW	7	35,071,864 (GRCm39)	missense	probably benign	0.02
R6700:Rhpn2	UTSW	7	35,075,594 (GRCm39)	missense	possibly damaging	0.91
R6776:Rhpn2	UTSW	7	35,083,194 (GRCm39)	splice site	probably null
R7326:Rhpn2	UTSW	7	35,084,888 (GRCm39)	missense	probably benign	0.00
R7342:Rhpn2	UTSW	7	35,033,771 (GRCm39)	missense	probably damaging	1.00
R7849:Rhpn2	UTSW	7	35,080,912 (GRCm39)	missense	probably benign	0.11
R8750:Rhpn2	UTSW	7	35,075,680 (GRCm39)	missense	probably benign	0.07
R8822:Rhpn2	UTSW	7	35,090,228 (GRCm39)	missense	probably benign	0.01
R8989:Rhpn2	UTSW	7	35,053,446 (GRCm39)	intron	probably benign
R9076:Rhpn2	UTSW	7	35,083,473 (GRCm39)	splice site	probably benign
R9308:Rhpn2	UTSW	7	35,033,805 (GRCm39)	missense	possibly damaging	0.87
Z1177:Rhpn2	UTSW	7	35,033,799 (GRCm39)	missense	probably benign	0.00
Z1177:Rhpn2	UTSW	7	35,033,798 (GRCm39)	missense	probably benign
Z1186:Rhpn2	UTSW	7	35,084,826 (GRCm39)	missense	probably benign	0.00
Z1191:Rhpn2	UTSW	7	35,084,826 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GAGTTCATGATACCCACGGC -3'
(R):5'- AAAGGCCTCTTTTCTATGGCTC -3'

Sequencing Primer
(F):5'- GGCAAAGCATCTATCTCTTCGAGTG -3'
(R):5'- CATTTGTTCTGAGAAACTACCGCCAG -3'

Posted On

2019-12-20