Mutagenetix > Incidental Mutation

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

Essential gene?

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

Stock #

R2567 (G1)

Quality Score

216

Status

Not validated

Chromosome

Chromosomal Location

35033605-35091712 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 35080957 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

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
Aadacl2fm1	A	G	3: 59,836,475 (GRCm39)		probably benign	Het
Aebp1	A	G	11: 5,820,251 (GRCm39)	D409G	probably benign	Het
Akap10	A	G	11: 61,784,175 (GRCm39)		probably benign	Het
Akap6	G	T	12: 52,985,156 (GRCm39)	S863I	probably damaging	Het
Ap1s3	T	C	1: 79,602,921 (GRCm39)	K29E	possibly damaging	Het
Atm	T	A	9: 53,368,770 (GRCm39)	I2341L	possibly damaging	Het
Atp12a	A	T	14: 56,624,384 (GRCm39)	D944V	probably damaging	Het
Baz2b	A	T	2: 59,744,255 (GRCm39)	S1417T	possibly damaging	Het
Cacna1a	T	A	8: 85,276,354 (GRCm39)	M613K	probably damaging	Het
Ccdc191	A	C	16: 43,764,330 (GRCm39)		probably null	Het
Cd209d	T	A	8: 3,926,327 (GRCm39)	N96I	probably damaging	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cdk4	T	G	10: 126,900,145 (GRCm39)	V14G	probably benign	Het
Chrna10	C	A	7: 101,761,276 (GRCm39)	M438I	probably benign	Het
Clec10a	T	C	11: 70,060,358 (GRCm39)		probably null	Het
Cog3	A	G	14: 75,991,730 (GRCm39)	V40A	probably benign	Het
Creb3l3	T	C	10: 80,921,883 (GRCm39)	H315R	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cubn	A	G	2: 13,283,167 (GRCm39)		probably null	Het
Cygb	T	C	11: 116,540,692 (GRCm39)	D98G	probably damaging	Het
Dmbx1	T	C	4: 115,777,489 (GRCm39)	K120E	probably damaging	Het
Dnah3	T	A	7: 119,551,920 (GRCm39)	I2800F	possibly damaging	Het
Dntt	G	T	19: 41,029,775 (GRCm39)	R245L	possibly damaging	Het
Dock1	T	G	7: 134,747,213 (GRCm39)	V1508G	probably damaging	Het
Enpp4	A	C	17: 44,412,736 (GRCm39)	I266R	probably damaging	Het
Fhl4	T	C	10: 84,934,644 (GRCm39)	I46V	possibly damaging	Het
Fn1	G	A	1: 71,636,895 (GRCm39)	Q1995*	probably null	Het
Foxl3	A	G	5: 138,805,940 (GRCm39)	S36G	probably null	Het
Foxo1	T	A	3: 52,176,755 (GRCm39)	L178H	probably damaging	Het
Galnt18	C	T	7: 111,153,823 (GRCm39)	R267H	probably damaging	Het
Gm1110	T	C	9: 26,831,992 (GRCm39)	D53G	probably benign	Het
Gm7104	A	T	12: 88,252,242 (GRCm39)		noncoding transcript	Het
H2-M11	C	T	17: 36,859,042 (GRCm39)	T194I	possibly damaging	Het
Haus6	C	A	4: 86,504,122 (GRCm39)	E501*	probably null	Het
Ifna5	T	C	4: 88,754,147 (GRCm39)	V129A	probably benign	Het
Kdelr3	A	G	15: 79,407,032 (GRCm39)	I38V	probably benign	Het
Lamb1	A	G	12: 31,319,054 (GRCm39)		probably null	Het
Larp7-ps	T	C	4: 92,079,560 (GRCm39)	E87G	probably benign	Het
Mgat4c	T	A	10: 102,214,123 (GRCm39)	F35L	probably benign	Het
Mmab	A	T	5: 114,571,378 (GRCm39)	M166K	probably benign	Het
Mrpl2	A	G	17: 46,958,427 (GRCm39)	T70A	probably benign	Het
Naa11	C	T	5: 97,539,618 (GRCm39)	G180D	probably benign	Het
Npy6r	T	C	18: 44,408,888 (GRCm39)	V103A	possibly damaging	Het
Nup188	A	T	2: 30,231,794 (GRCm39)	R1463W	possibly damaging	Het
Nusap1	T	A	2: 119,474,311 (GRCm39)	S336R	possibly damaging	Het
Or8b12c	T	A	9: 37,715,509 (GRCm39)	F101I	probably damaging	Het
Pabpc4	T	A	4: 123,191,744 (GRCm39)	L589Q	probably damaging	Het
Pcdh12	T	A	18: 38,415,149 (GRCm39)	N659Y	probably damaging	Het
Perm1	T	C	4: 156,301,575 (GRCm39)	S40P	probably damaging	Het
Phldb1	T	C	9: 44,637,322 (GRCm39)	T114A	probably damaging	Het
Pirt	C	T	11: 66,816,985 (GRCm39)	L99F	probably damaging	Het
Plxdc2	A	G	2: 16,716,995 (GRCm39)	R360G	probably benign	Het
Rpusd2	T	A	2: 118,867,556 (GRCm39)	I268N	probably damaging	Het
Sds	G	T	5: 120,619,646 (GRCm39)	W185L	probably damaging	Het
Serpinb5	A	G	1: 106,802,876 (GRCm39)	K137R	probably benign	Het
Sh3pxd2a	A	G	19: 47,413,008 (GRCm39)	V25A	possibly damaging	Het
Slc1a2	C	T	2: 102,597,355 (GRCm39)	T454I	probably damaging	Het
Slc25a40	T	C	5: 8,480,459 (GRCm39)	C70R	probably damaging	Het
Smoc1	G	A	12: 81,214,364 (GRCm39)	E260K	probably damaging	Het
Sparcl1	A	T	5: 104,232,954 (GRCm39)	F616I	probably damaging	Het
Ssc5d	A	T	7: 4,939,334 (GRCm39)	D590V	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trpm2	C	T	10: 77,777,008 (GRCm39)	V430M	probably damaging	Het
Ttn	T	C	2: 76,574,672 (GRCm39)	D25407G	probably damaging	Het
Vmn2r68	T	C	7: 84,883,803 (GRCm39)	I101V	probably benign	Het
Xrcc4	A	T	13: 90,210,261 (GRCm39)	M61K	probably damaging	Het
Zfp648	A	G	1: 154,080,695 (GRCm39)	T285A	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
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
R7455:Rhpn2	UTSW	7	35,070,669 (GRCm39)	splice site	probably null
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'- TTTTCACGAGGAGTCACTGAG -3'
(R):5'- GAAAGGGTAAGAGCCTCACC -3'

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

Posted On

2014-12-04