Mutagenetix > Incidental Mutation

Incidental Mutation 'R3944:Rp9'

307600

Institutional Source

Beutler Lab

Gene Symbol

Rp9

Ensembl Gene

ENSMUSG00000032239

Gene Name

retinitis pigmentosa 9 (human)

Synonyms

Rp9h, PAP-1

MMRRC Submission

040925-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3944 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22359607-22379652 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 22361154 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 44 (H44Q)

Ref Sequence

ENSEMBL: ENSMUSP00000150554 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034763] [ENSMUST00000168332] [ENSMUST00000215715] [ENSMUST00000216973]

AlphaFold

P97762

Predicted Effect

probably damaging
Transcript: ENSMUST00000034763
AA Change: H129Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034763
Gene: ENSMUSG00000032239
AA Change: H129Q

Domain	Start	End	E-Value	Type
low complexity region	19	28	N/A	INTRINSIC
ZnF_C2HC	96	114	5.17e0	SMART
low complexity region	161	213	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168332

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215715
AA Change: H129Q

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216973
AA Change: H44Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217370

Meta Mutation Damage Score

0.1398

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (61/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene can be bound and phosphorylated by the protooncogene PIM1 product, a serine/threonine protein kinase . This protein localizes in nuclear speckles containing the splicing factors, and has a role in pre-mRNA splicing. CBF1-interacting protein (CIR), a corepressor of CBF1, can also bind to this protein and effects alternative splicing. Mutations in this gene result in autosomal dominant retinitis pigmentosa-9. This gene has a pseudogene (GeneID: 441212), which is located in tandem array approximately 166 kb distal to this gene. [provided by RefSeq, Sep 2009]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
6430548M08Rik	T	C	8: 120,879,241 (GRCm39)	L213P	probably damaging	Het
Akap12	A	G	10: 4,307,347 (GRCm39)	K1491E	probably benign	Het
Akr1c12	T	A	13: 4,329,339 (GRCm39)	H6L	probably benign	Het
Ankrd50	C	T	3: 38,506,645 (GRCm39)	C251Y	probably benign	Het
Bltp1	A	G	3: 37,084,210 (GRCm39)	I3876V	possibly damaging	Het
Bltp2	T	A	11: 78,160,350 (GRCm39)	L603*	probably null	Het
Calu	T	C	6: 29,361,710 (GRCm39)	S125P	possibly damaging	Het
Cdh10	A	G	15: 18,964,335 (GRCm39)	T166A	probably benign	Het
Clip1	T	C	5: 123,755,892 (GRCm39)		probably benign	Het
Cntn4	T	G	6: 106,595,375 (GRCm39)	N497K	probably benign	Het
Cspg4	T	A	9: 56,793,407 (GRCm39)	C381S	probably damaging	Het
Cyp1a2	T	C	9: 57,589,151 (GRCm39)	N221S	probably benign	Het
Dnaaf5	C	T	5: 139,138,679 (GRCm39)		probably benign	Het
Dnah7b	A	G	1: 46,176,645 (GRCm39)	D755G	probably damaging	Het
Dscam	A	T	16: 96,622,197 (GRCm39)	V418E	probably damaging	Het
Eefsec	T	A	6: 88,275,076 (GRCm39)	H296L	probably benign	Het
Elmo3	T	C	8: 106,035,852 (GRCm39)		probably null	Het
Gcm1	C	T	9: 77,967,098 (GRCm39)	Q106*	probably null	Het
Gnl1	G	T	17: 36,299,413 (GRCm39)	G528V	probably benign	Het
Gpat4	G	A	8: 23,670,171 (GRCm39)	P286L	probably damaging	Het
H2-T23	A	G	17: 36,341,535 (GRCm39)	V312A	probably benign	Het
Hectd4	C	A	5: 121,441,588 (GRCm39)		probably benign	Het
Hoxa7	T	A	6: 52,193,606 (GRCm39)		probably benign	Het
Ifnlr1	T	A	4: 135,428,539 (GRCm39)	V122E	probably damaging	Het
Kcnt2	T	C	1: 140,512,025 (GRCm39)	M1036T	probably damaging	Het
Khdc1b	G	T	1: 21,455,030 (GRCm39)	K96N	probably damaging	Het
Kif19a	A	T	11: 114,677,561 (GRCm39)	Y578F	probably benign	Het
Krt4	G	A	15: 101,829,685 (GRCm39)	T281M	probably benign	Het
Lyl1	A	C	8: 85,430,631 (GRCm39)	T178P	probably damaging	Het
Marchf6	A	G	15: 31,488,960 (GRCm39)	V317A	probably benign	Het
Mmp1b	G	A	9: 7,384,708 (GRCm39)	T280I	possibly damaging	Het
Mpi	T	C	9: 57,452,536 (GRCm39)	D332G	probably damaging	Het
Naip6	T	C	13: 100,431,247 (GRCm39)	T1197A	probably benign	Het
Ntng2	G	A	2: 29,094,289 (GRCm39)	L361F	probably benign	Het
Obscn	A	T	11: 59,023,373 (GRCm39)	I668N	probably damaging	Het
Or52x1	A	T	7: 104,853,162 (GRCm39)	C129*	probably null	Het
Or8k40	A	G	2: 86,584,525 (GRCm39)	S186P	probably benign	Het
Pabpc1l	A	G	2: 163,884,247 (GRCm39)	E328G	probably damaging	Het
Pan3	A	T	5: 147,387,540 (GRCm39)	N170Y	probably damaging	Het
Prdm2	C	T	4: 142,858,385 (GRCm39)	R1635Q	possibly damaging	Het
Rassf6	G	T	5: 90,752,185 (GRCm39)	Q258K	possibly damaging	Het
Ribc2	A	G	15: 85,019,451 (GRCm39)	M78V	probably benign	Het
Skint5	T	A	4: 113,799,950 (GRCm39)	H73L	probably damaging	Het
Slc6a12	A	T	6: 121,331,239 (GRCm39)		probably null	Het
Smg6	G	A	11: 74,820,367 (GRCm39)	G213R	probably damaging	Het
Spout1	A	G	2: 30,064,148 (GRCm39)	V372A	probably benign	Het
Svep1	T	A	4: 58,084,807 (GRCm39)		probably null	Het
Tab1	T	C	15: 80,037,941 (GRCm39)	L258P	probably damaging	Het
Tbl3	A	G	17: 24,919,682 (GRCm39)	S791P	possibly damaging	Het
Tcof1	C	A	18: 60,955,909 (GRCm39)	D927Y	probably damaging	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Topaz1	T	C	9: 122,579,669 (GRCm39)	S860P	possibly damaging	Het
Vill	T	C	9: 118,897,499 (GRCm39)	I258T	probably benign	Het
Vmn1r204	G	A	13: 22,741,014 (GRCm39)	R215H	probably benign	Het
Vmn2r106	A	T	17: 20,487,913 (GRCm39)	F829I	probably damaging	Het
Vmn2r14	A	T	5: 109,363,930 (GRCm39)	I662N	probably damaging	Het
Vmn2r58	A	T	7: 41,513,885 (GRCm39)	F253I	probably benign	Het
Vps8	A	T	16: 21,288,873 (GRCm39)	N411Y	probably damaging	Het
Zfp932	T	A	5: 110,157,820 (GRCm39)	V506E	probably benign	Het

Other mutations in Rp9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03210:Rp9	APN	9	22,368,724 (GRCm39)	missense	probably benign	0.40
R0512:Rp9	UTSW	9	22,370,015 (GRCm39)	missense	probably benign	0.00
R1157:Rp9	UTSW	9	22,370,036 (GRCm39)	missense	probably damaging	1.00
R1500:Rp9	UTSW	9	22,368,751 (GRCm39)	missense	probably damaging	1.00
R1677:Rp9	UTSW	9	22,365,097 (GRCm39)	missense	probably damaging	0.99
R2135:Rp9	UTSW	9	22,379,425 (GRCm39)	missense	possibly damaging	0.68
R5747:Rp9	UTSW	9	22,359,960 (GRCm39)	intron	probably benign
R5853:Rp9	UTSW	9	22,360,065 (GRCm39)	intron	probably benign
R6342:Rp9	UTSW	9	22,361,154 (GRCm39)	missense	probably damaging	1.00
R8075:Rp9	UTSW	9	22,368,788 (GRCm39)	missense	probably damaging	0.96
R9250:Rp9	UTSW	9	22,365,086 (GRCm39)	nonsense	probably null
R9273:Rp9	UTSW	9	22,379,573 (GRCm39)	intron	probably benign
R9398:Rp9	UTSW	9	22,360,082 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTTCAGACTTCAAGAGGACATTGG -3'
(R):5'- ATCTATCATCAAGCTACAGGAAGC -3'

Sequencing Primer
(F):5'- CAGCCTAGTCTACAGAGTGAGTTC -3'
(R):5'- GAGCTCCATTGCCAGTTTGAAGC -3'

Posted On

2015-04-17