Mutagenetix > Incidental Mutation

Incidental Mutation 'R5337:Rhpn1'

423593

Institutional Source

Beutler Lab

Gene Symbol

Rhpn1

Ensembl Gene

ENSMUSG00000022580

Gene Name

rhophilin, Rho GTPase binding protein 1

Synonyms

Grbp, Rhophilin

MMRRC Submission

042917-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5337 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75576097-75586268 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75580054 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 39 (Q39R)

Ref Sequence

ENSEMBL: ENSMUSP00000116837 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023244] [ENSMUST00000121137] [ENSMUST00000149407]

AlphaFold

Q61085

Predicted Effect

probably benign
Transcript: ENSMUST00000023244
AA Change: Q39R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000023244
Gene: ENSMUSG00000022580
AA Change: Q39R

Domain	Start	End	E-Value	Type
Hr1	42	105	1.98e-17	SMART
BRO1	115	498	4.31e-147	SMART
PDZ	508	578	9.27e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121137
AA Change: Q39R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113042
Gene: ENSMUSG00000022580
AA Change: Q39R

Domain	Start	End	E-Value	Type
Hr1	42	105	1.98e-17	SMART
BRO1	115	516	1.64e-161	SMART
PDZ	526	596	9.27e-19	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124749

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143056

Predicted Effect

probably benign
Transcript: ENSMUST00000149407
AA Change: Q39R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000116837
Gene: ENSMUSG00000022580
AA Change: Q39R

Domain	Start	End	E-Value	Type
Hr1	42	105	1.98e-17	SMART
BRO1	115	449	7.17e-103	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229182

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229670

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229843

Meta Mutation Damage Score

0.0661

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd15	T	A	11: 77,409,665 (GRCm39)		probably null	Het
Akap8l	A	G	17: 32,555,368 (GRCm39)	M237T	possibly damaging	Het
Anapc15	C	T	7: 101,547,810 (GRCm39)	P68L	probably damaging	Het
Api5	G	T	2: 94,256,033 (GRCm39)	A218E	possibly damaging	Het
Bltp2	T	A	11: 78,156,034 (GRCm39)	I182N	possibly damaging	Het
Cfap68	C	A	9: 50,677,049 (GRCm39)	C14F	probably benign	Het
Cftr	A	G	6: 18,319,058 (GRCm39)	D1336G	probably damaging	Het
Chd1l	G	A	3: 97,469,932 (GRCm39)	R865W	probably damaging	Het
Cimip2b	C	T	4: 43,427,687 (GRCm39)		probably null	Het
Cmya5	T	C	13: 93,219,781 (GRCm39)	K3223E	probably benign	Het
Cspg4b	T	A	13: 113,455,299 (GRCm39)	H448Q	probably damaging	Het
Cuzd1	A	G	7: 130,917,803 (GRCm39)	Y266H	probably damaging	Het
Dnajc5b	A	T	3: 19,628,946 (GRCm39)	Y80F	probably damaging	Het
Dock6	A	G	9: 21,740,844 (GRCm39)	S915P	possibly damaging	Het
Fat4	T	A	3: 38,945,776 (GRCm39)	D1556E	probably damaging	Het
Fat4	A	G	3: 39,064,527 (GRCm39)	T4828A	probably benign	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Gja3	T	G	14: 57,273,289 (GRCm39)	D361A	probably benign	Het
Gpr155	T	C	2: 73,178,592 (GRCm39)	E704G	probably benign	Het
Greb1l	A	G	18: 10,509,143 (GRCm39)	E485G	probably damaging	Het
Grik1	CGG	CGGG	16: 87,720,082 (GRCm39)		probably null	Het
H6pd	A	G	4: 150,066,241 (GRCm39)	V715A	probably benign	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kcnip1	T	G	11: 33,592,389 (GRCm39)		probably benign	Het
Kif21b	T	C	1: 136,098,881 (GRCm39)	S1390P	probably damaging	Het
Lrrc61	G	A	6: 48,545,308 (GRCm39)	V44M	probably damaging	Het
Map3k4	G	T	17: 12,490,497 (GRCm39)	N311K	probably damaging	Het
Mgat5	T	C	1: 127,387,658 (GRCm39)	F538S	possibly damaging	Het
Mtpn	C	T	6: 35,489,225 (GRCm39)	D100N	probably benign	Het
Ndst1	A	T	18: 60,823,079 (GRCm39)	L829Q	probably damaging	Het
Neto1	A	T	18: 86,416,434 (GRCm39)	H47L	probably benign	Het
Or10ak11	T	C	4: 118,686,863 (GRCm39)	Y258C	probably benign	Het
Or10p22	A	G	10: 128,826,548 (GRCm39)	T256A	probably benign	Het
Or51r1	T	C	7: 102,228,481 (GRCm39)	S260P	probably damaging	Het
Or5p61	A	T	7: 107,758,480 (GRCm39)	V200D	probably benign	Het
Or6c214	A	T	10: 129,590,403 (GRCm39)	C305*	probably null	Het
Pds5b	T	C	5: 150,717,062 (GRCm39)	F1120L	probably benign	Het
Phkb	A	G	8: 86,604,874 (GRCm39)	Y93C	probably damaging	Het
Pilra	C	T	5: 137,834,032 (GRCm39)		probably benign	Het
Pmvk	T	C	3: 89,375,878 (GRCm39)	V146A	probably benign	Het
Proz	T	A	8: 13,116,854 (GRCm39)	D135E	probably benign	Het
Psg23	A	T	7: 18,345,997 (GRCm39)	W233R	probably benign	Het
Rgl2	A	T	17: 34,153,958 (GRCm39)	I455F	probably damaging	Het
Rims4	T	G	2: 163,707,763 (GRCm39)	M100L	probably benign	Het
Sacs	T	A	14: 61,430,963 (GRCm39)		probably benign	Het
Slfn4	T	C	11: 83,080,055 (GRCm39)	F189L	probably benign	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Tmem127	T	C	2: 127,098,065 (GRCm39)	Y129H	probably damaging	Het
Trim50	C	T	5: 135,396,330 (GRCm39)	T426M	probably damaging	Het
Trpc3	A	T	3: 36,692,519 (GRCm39)		probably benign	Het
Tsga10ip	A	T	19: 5,444,363 (GRCm39)	S23T	probably benign	Het
Tut7	G	A	13: 59,939,666 (GRCm39)	T695I	probably damaging	Het
Uspl1	T	C	5: 149,151,556 (GRCm39)	S720P	probably damaging	Het
Zc3h18	A	G	8: 123,113,641 (GRCm39)	D211G	probably damaging	Het
Zswim4	G	A	8: 84,961,708 (GRCm39)	P55L	probably damaging	Het

Other mutations in Rhpn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00965:Rhpn1	APN	15	75,583,735 (GRCm39)	missense	probably damaging	0.99
IGL02211:Rhpn1	APN	15	75,582,905 (GRCm39)	missense	possibly damaging	0.94
R0049:Rhpn1	UTSW	15	75,581,088 (GRCm39)	missense	possibly damaging	0.73
R0049:Rhpn1	UTSW	15	75,581,088 (GRCm39)	missense	possibly damaging	0.73
R0240:Rhpn1	UTSW	15	75,585,971 (GRCm39)	missense	probably benign	0.05
R0240:Rhpn1	UTSW	15	75,585,971 (GRCm39)	missense	probably benign	0.05
R0324:Rhpn1	UTSW	15	75,583,437 (GRCm39)	missense	probably damaging	0.99
R0426:Rhpn1	UTSW	15	75,583,721 (GRCm39)	missense	possibly damaging	0.71
R0453:Rhpn1	UTSW	15	75,585,428 (GRCm39)	missense	possibly damaging	0.93
R0893:Rhpn1	UTSW	15	75,583,503 (GRCm39)	missense	probably damaging	1.00
R1051:Rhpn1	UTSW	15	75,584,241 (GRCm39)	missense	probably damaging	0.99
R1571:Rhpn1	UTSW	15	75,585,967 (GRCm39)	missense	possibly damaging	0.93
R1906:Rhpn1	UTSW	15	75,583,673 (GRCm39)	missense	probably benign	0.02
R1907:Rhpn1	UTSW	15	75,583,673 (GRCm39)	missense	probably benign	0.02
R2110:Rhpn1	UTSW	15	75,585,083 (GRCm39)	missense	probably damaging	1.00
R2153:Rhpn1	UTSW	15	75,576,243 (GRCm39)	start codon destroyed	probably null	0.00
R3943:Rhpn1	UTSW	15	75,583,655 (GRCm39)	missense	probably damaging	0.97
R4030:Rhpn1	UTSW	15	75,582,406 (GRCm39)	missense	probably damaging	1.00
R4552:Rhpn1	UTSW	15	75,585,968 (GRCm39)	missense	probably benign	0.00
R5015:Rhpn1	UTSW	15	75,580,090 (GRCm39)	missense	probably damaging	1.00
R5103:Rhpn1	UTSW	15	75,586,064 (GRCm39)	missense	possibly damaging	0.83
R5121:Rhpn1	UTSW	15	75,581,109 (GRCm39)	missense	probably damaging	1.00
R7324:Rhpn1	UTSW	15	75,576,246 (GRCm39)	missense	possibly damaging	0.89
R7596:Rhpn1	UTSW	15	75,584,162 (GRCm39)	missense	probably benign	0.00
R7610:Rhpn1	UTSW	15	75,584,245 (GRCm39)	missense	unknown
R7808:Rhpn1	UTSW	15	75,585,299 (GRCm39)	missense	probably benign	0.09
R8103:Rhpn1	UTSW	15	75,581,115 (GRCm39)	missense	probably null	1.00
R8128:Rhpn1	UTSW	15	75,583,032 (GRCm39)	critical splice donor site	probably null
R8746:Rhpn1	UTSW	15	75,585,425 (GRCm39)	missense	probably damaging	1.00
R9275:Rhpn1	UTSW	15	75,585,120 (GRCm39)	missense	possibly damaging	0.91
R9781:Rhpn1	UTSW	15	75,582,543 (GRCm39)	nonsense	probably null
Z1177:Rhpn1	UTSW	15	75,583,451 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGTGACACTAGCTGGGGATC -3'
(R):5'- GAATGGGCCTAGTCTGTCTG -3'

Sequencing Primer
(F):5'- GATCCAGCCCACAGTGC -3'
(R):5'- CAACAGCAGCTGGGTCATG -3'

Posted On

2016-08-04