Mutagenetix > Incidental Mutation

Incidental Mutation 'R3434:Rpgr'

266374

Institutional Source

Beutler Lab

Gene Symbol

Rpgr

Ensembl Gene

ENSMUSG00000031174

Gene Name

retinitis pigmentosa GTPase regulator

Synonyms

Rp3h

MMRRC Submission

040652-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3434 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

10073621-10216920 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10176602 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 656 (S656P)

Ref Sequence

ENSEMBL: ENSMUSP00000037358 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044598] [ENSMUST00000072393] [ENSMUST00000073392] [ENSMUST00000115532] [ENSMUST00000115533] [ENSMUST00000115534]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000044598
AA Change: S656P

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000037358
Gene: ENSMUSG00000031174
AA Change: S656P

Domain	Start	End	E-Value	Type
Pfam:RCC1	91	140	2.4e-12	PFAM
Pfam:RCC1	143	193	2.1e-7	PFAM
Pfam:RCC1_2	180	209	4.5e-11	PFAM
Pfam:RCC1	196	243	2.2e-12	PFAM
Pfam:RCC1	246	296	6.3e-13	PFAM
Pfam:RCC1	300	348	9.9e-13	PFAM
Pfam:RCC1	352	402	2.5e-9	PFAM
low complexity region	433	460	N/A	INTRINSIC
low complexity region	754	766	N/A	INTRINSIC
low complexity region	820	829	N/A	INTRINSIC
low complexity region	879	897	N/A	INTRINSIC
low complexity region	913	924	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000072393

SMART Domains

Protein: ENSMUSP00000072229
Gene: ENSMUSG00000031174

Domain	Start	End	E-Value	Type
Pfam:RCC1_2	76	104	3e-8	PFAM
Pfam:RCC1	91	140	3.1e-13	PFAM
Pfam:RCC1	143	193	7.5e-9	PFAM
Pfam:RCC1_2	180	209	1.5e-11	PFAM
Pfam:RCC1	196	243	2.6e-13	PFAM
Pfam:RCC1	246	296	4.4e-13	PFAM
Pfam:RCC1	300	348	1.7e-12	PFAM
Pfam:RCC1	352	402	1.3e-9	PFAM
low complexity region	433	460	N/A	INTRINSIC
low complexity region	586	604	N/A	INTRINSIC
low complexity region	620	631	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000073392

SMART Domains

Protein: ENSMUSP00000073106
Gene: ENSMUSG00000031174

Domain	Start	End	E-Value	Type
Pfam:RCC1_2	76	104	3.3e-8	PFAM
Pfam:RCC1	91	140	3.5e-13	PFAM
Pfam:RCC1	143	193	8.4e-9	PFAM
Pfam:RCC1_2	180	209	1.7e-11	PFAM
Pfam:RCC1	196	243	3e-13	PFAM
Pfam:RCC1	246	296	4.9e-13	PFAM
Pfam:RCC1	300	348	1.9e-12	PFAM
Pfam:RCC1	352	402	1.5e-9	PFAM
low complexity region	433	460	N/A	INTRINSIC
low complexity region	586	604	N/A	INTRINSIC
low complexity region	620	631	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115532
AA Change: S656P

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000111194
Gene: ENSMUSG00000031174
AA Change: S656P

Domain	Start	End	E-Value	Type
Pfam:RCC1_2	76	104	1.1e-7	PFAM
Pfam:RCC1	91	140	1.3e-12	PFAM
Pfam:RCC1	143	193	3.1e-8	PFAM
Pfam:RCC1_2	180	209	5.5e-11	PFAM
Pfam:RCC1	196	243	1.1e-12	PFAM
Pfam:RCC1	246	296	1.8e-12	PFAM
Pfam:RCC1	300	348	6.8e-12	PFAM
Pfam:RCC1	352	402	5.4e-9	PFAM
low complexity region	433	460	N/A	INTRINSIC
low complexity region	754	766	N/A	INTRINSIC
low complexity region	820	829	N/A	INTRINSIC
low complexity region	879	897	N/A	INTRINSIC
low complexity region	913	924	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115533

SMART Domains

Protein: ENSMUSP00000111195
Gene: ENSMUSG00000031174

Domain	Start	End	E-Value	Type
Pfam:RCC1_2	76	104	7.1e-8	PFAM
Pfam:RCC1	91	140	8.4e-13	PFAM
Pfam:RCC1	143	193	2e-8	PFAM
Pfam:RCC1_2	180	209	3.7e-11	PFAM
Pfam:RCC1	196	243	7.1e-13	PFAM
Pfam:RCC1	246	296	1.2e-12	PFAM
Pfam:RCC1	300	348	4.4e-12	PFAM
Pfam:RCC1	352	402	3.5e-9	PFAM
low complexity region	433	460	N/A	INTRINSIC
low complexity region	586	604	N/A	INTRINSIC
low complexity region	620	631	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115534

SMART Domains

Protein: ENSMUSP00000111196
Gene: ENSMUSG00000031174

Domain	Start	End	E-Value	Type
Pfam:RCC1	1	45	9.6e-11	PFAM
Pfam:RCC1	48	98	3.2e-8	PFAM
Pfam:RCC1_2	85	114	6.1e-11	PFAM
Pfam:RCC1	101	148	1.1e-12	PFAM
Pfam:RCC1	151	201	1.9e-12	PFAM
Pfam:RCC1	205	253	7.1e-12	PFAM
Pfam:RCC1	257	307	5.6e-9	PFAM
low complexity region	338	365	N/A	INTRINSIC
low complexity region	491	509	N/A	INTRINSIC
low complexity region	525	536	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155734

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

98% (54/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. The encoded protein is found in the Golgi body and interacts with RPGRIP1. This protein localizes to the outer segment of rod photoreceptors and is essential for their viability. Mutations in this gene have been associated with X-linked retinitis pigmentosa (XLRP). Multiple alternatively spliced transcript variants that encode different isoforms of this gene have been reported, but the full-length natures of only some have been determined. [provided by RefSeq, Dec 2008]
PHENOTYPE: Homo- and hemizygotes for an X-linked, targeted, null mutation exhibit ectopic placement of cone opsins, reduced levels of rhodopsin in rod cells, and partial degeneration of both cone and rod photoreceptors by 2-6 months of age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	G	A	17: 24,289,537	A1008V	probably damaging	Het
Adora3	A	G	3: 105,904,915	K39R	probably benign	Het
Ankib1	A	G	5: 3,692,760	V1085A	probably damaging	Het
Atp7a	G	A	X: 106,094,857	R563K	probably benign	Het
Azin1	T	C	15: 38,493,576	I268V	probably benign	Het
Carm1	T	C	9: 21,569,473	F81S	probably damaging	Het
Ccnjl	A	G	11: 43,579,861	Y152C	probably damaging	Het
Chrna3	T	A	9: 55,024,326	I61F	possibly damaging	Het
Clca3a2	G	A	3: 144,808,761		probably benign	Het
Clstn2	T	A	9: 97,454,715	D903V	probably benign	Het
Dpysl3	C	T	18: 43,361,061	V70I	probably benign	Het
Drg2	A	T	11: 60,461,392	K180*	probably null	Het
Dync2h1	A	C	9: 7,011,236	H3659Q	probably benign	Het
Dysf	A	T	6: 84,070,888	Y349F	probably benign	Het
Epb41l4b	T	C	4: 57,040,865	N533D	probably benign	Het
Fam47e	T	A	5: 92,585,362	V152D	probably damaging	Het
Fasn	G	A	11: 120,822,773	A24V	probably damaging	Het
Fhl4	T	C	10: 85,098,444	T158A	probably benign	Het
Fnbp1l	C	T	3: 122,546,306	R499Q	probably damaging	Het
Hdlbp	A	T	1: 93,428,161	M358K	probably benign	Het
Ift74	A	G	4: 94,621,852		probably null	Het
Lhx4	A	G	1: 155,702,401	Y332H	probably damaging	Het
Mast2	A	T	4: 116,308,095	S1314T	probably benign	Het
Mast4	A	G	13: 102,787,379	I508T	probably damaging	Het
Mdn1	T	C	4: 32,733,726		probably null	Het
Mrps23	A	G	11: 88,210,114	K44E	probably damaging	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Mup6	G	T	4: 60,004,116		probably null	Het
Notch3	A	T	17: 32,158,618	D161E	possibly damaging	Het
Olfr1131	T	C	2: 87,629,074	F204L	probably benign	Het
Olfr1200	T	C	2: 88,768,069	D82G	probably damaging	Het
Olfr695	A	T	7: 106,873,769	Y159N	probably benign	Het
P2rx4	T	A	5: 122,725,070	I202K	probably damaging	Het
Phykpl	A	G	11: 51,598,655	T363A	probably benign	Het
Pitpnm1	G	A	19: 4,112,234	A1047T	probably damaging	Het
Ppat	A	G	5: 76,918,065	I402T	probably damaging	Het
Rsbn1l	T	C	5: 20,905,930		probably benign	Het
Sacs	A	G	14: 61,212,303	K3933E	probably damaging	Het
Scn7a	T	C	2: 66,675,503	I1681V	probably benign	Het
Sel1l3	T	C	5: 53,117,090	D1016G	probably benign	Het
Sf3a3	C	A	4: 124,725,077	T277N	possibly damaging	Het
Slc35a5	A	G	16: 45,144,033	I279T	probably benign	Het
Slc39a10	T	C	1: 46,835,717	T142A	probably benign	Het
Tle3	T	A	9: 61,414,094		probably null	Het
Tmem117	T	C	15: 95,094,692	I411T	probably damaging	Het
Ttn	T	C	2: 76,868,377	T5A	possibly damaging	Het
Tubgcp3	T	C	8: 12,658,381		probably null	Het
Ush2a	C	T	1: 188,733,758	P2841L	probably damaging	Het
Vmn1r209	A	T	13: 22,806,097	M141K	probably benign	Het
Vmn2r91	A	T	17: 18,110,108		probably benign	Het

Other mutations in Rpgr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00840:Rpgr	APN	X	10208709	missense	possibly damaging	0.63
IGL02394:Rpgr	APN	X	10166217	missense	probably benign	0.30
IGL02401:Rpgr	APN	X	10158717	missense	possibly damaging	0.78
R4598:Rpgr	UTSW	X	10196016	missense	probably benign	0.00
R5732:Rpgr	UTSW	X	10166272	missense	probably benign	0.12
R5734:Rpgr	UTSW	X	10166272	missense	probably benign	0.12
Z1177:Rpgr	UTSW	X	10158704	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- AAAGGTCATATTCTGCTCACTGC -3'
(R):5'- CACCGTGCACTGAAAATGAG -3'

Sequencing Primer
(F):5'- AGGTCATATTCTGCTCACTGCTTCTC -3'
(R):5'- CACCGTGCACTGAAAATGAGGATAG -3'

Posted On

2015-02-18