Mutagenetix > Incidental Mutation

Incidental Mutation 'R2135:Rp9'

235726

Institutional Source

Beutler Lab

Gene Symbol

Rp9

Ensembl Gene

ENSMUSG00000032239

Gene Name

retinitis pigmentosa 9 (human)

Synonyms

Rp9h, PAP-1

MMRRC Submission

040138-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2135 (G1)

Quality Score

112

Status

Validated

Chromosome

Chromosomal Location

22359607-22379652 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22379425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 25 (K25E)

Ref Sequence

ENSEMBL: ENSMUSP00000034763 (fasta)

Gene Model

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

AlphaFold

P97762

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034763
AA Change: K25E

PolyPhen 2 Score 0.677 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000034763
Gene: ENSMUSG00000032239
AA Change: K25E

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

noncoding transcript
Transcript: ENSMUST00000214005

Predicted Effect

probably benign
Transcript: ENSMUST00000215715
AA Change: K25E

PolyPhen 2 Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000216973

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217370

Meta Mutation Damage Score

0.0615

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

100% (70/70)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,885,509 (GRCm39)	H116Q	probably benign	Het
Adamts16	C	A	13: 70,949,126 (GRCm39)	L178F	probably damaging	Het
Adgrv1	A	G	13: 81,672,676 (GRCm39)		probably null	Het
Akap9	A	G	5: 4,114,509 (GRCm39)	T46A	probably damaging	Het
Ankrd2	T	C	19: 42,032,498 (GRCm39)	L253P	probably damaging	Het
Arap3	T	C	18: 38,107,509 (GRCm39)	D1336G	probably damaging	Het
Cacna2d2	C	A	9: 107,403,712 (GRCm39)	L992I	possibly damaging	Het
Cdhr2	T	A	13: 54,868,760 (GRCm39)	I574N	probably damaging	Het
Cecr2	C	T	6: 120,697,923 (GRCm39)	T74M	probably damaging	Het
Ces5a	C	A	8: 94,226,369 (GRCm39)	E481D	probably benign	Het
Cfap74	C	G	4: 155,514,397 (GRCm39)	N544K	probably damaging	Het
Cfap74	T	A	4: 155,514,408 (GRCm39)	L548Q	probably damaging	Het
Cfb	C	T	17: 35,076,254 (GRCm39)	V1145I	possibly damaging	Het
CK137956	A	G	4: 127,845,433 (GRCm39)		probably benign	Het
Commd10	T	A	18: 47,123,604 (GRCm39)	L153Q	possibly damaging	Het
Cox6c	T	C	15: 35,937,429 (GRCm39)		probably benign	Het
Dock4	A	G	12: 40,795,667 (GRCm39)	Y828C	probably benign	Het
Ermp1	T	C	19: 29,623,465 (GRCm39)	D119G	possibly damaging	Het
Ext1	G	T	15: 52,965,140 (GRCm39)	Q409K	possibly damaging	Het
Fat4	A	T	3: 39,034,882 (GRCm39)	I2845F	probably damaging	Het
Frmd6	A	G	12: 70,941,771 (GRCm39)	N494S	probably benign	Het
Fscn3	A	G	6: 28,431,583 (GRCm39)	T305A	probably benign	Het
Gbx1	G	T	5: 24,731,220 (GRCm39)	R199S	possibly damaging	Het
Gm11437	T	C	11: 84,044,638 (GRCm39)	R192G	probably damaging	Het
Gucy2c	T	A	6: 136,700,726 (GRCm39)	D572V	probably damaging	Het
Idh1	A	C	1: 65,201,078 (GRCm39)	M291R	probably damaging	Het
Kcnt2	A	G	1: 140,356,551 (GRCm39)	Y330C	probably damaging	Het
Kdm4a	A	G	4: 117,999,656 (GRCm39)	L922P	probably damaging	Het
L3mbtl2	A	G	15: 81,566,215 (GRCm39)	D346G	possibly damaging	Het
Lsm14a	A	G	7: 34,070,609 (GRCm39)	S96P	probably damaging	Het
Ltn1	A	G	16: 87,179,601 (GRCm39)	L1520P	probably damaging	Het
Marchf6	A	T	15: 31,509,910 (GRCm39)	C26*	probably null	Het
Msra	G	A	14: 64,360,657 (GRCm39)	P228L	probably damaging	Het
Mycbp2	T	C	14: 103,446,329 (GRCm39)	Y1800C	probably damaging	Het
Mycbp2	A	T	14: 103,383,378 (GRCm39)	D395E	probably benign	Het
Ncr1	C	A	7: 4,343,756 (GRCm39)		probably benign	Het
Nkd1	T	C	8: 89,318,278 (GRCm39)	I201T	probably benign	Het
Nsrp1	A	T	11: 76,945,834 (GRCm39)		probably benign	Het
Or2t48	A	C	11: 58,420,611 (GRCm39)	I67S	probably damaging	Het
Or7e177	T	A	9: 20,211,593 (GRCm39)	D32E	probably benign	Het
Pate5	A	C	9: 35,750,479 (GRCm39)		probably null	Het
Pkdrej	T	C	15: 85,700,707 (GRCm39)	Y1743C	probably damaging	Het
Plekha5	T	A	6: 140,526,225 (GRCm39)	H281Q	possibly damaging	Het
Ppp2r3d	A	C	9: 101,088,757 (GRCm39)	M522R	probably damaging	Het
Prdm12	T	C	2: 31,530,325 (GRCm39)	F72S	possibly damaging	Het
Prima1	A	T	12: 103,168,949 (GRCm39)	F106L	probably damaging	Het
Ptchd4	A	G	17: 42,627,965 (GRCm39)	H142R	probably benign	Het
Rasgrf2	G	A	13: 92,120,374 (GRCm39)	A793V	probably benign	Het
Rbsn	T	A	6: 92,166,854 (GRCm39)	M597L	probably benign	Het
Ripk4	A	T	16: 97,544,933 (GRCm39)	D571E	probably damaging	Het
Sec31b	T	C	19: 44,523,135 (GRCm39)	S211G	probably damaging	Het
Shank2	C	T	7: 143,964,971 (GRCm39)	P1070S	probably damaging	Het
Sla	A	G	15: 66,654,563 (GRCm39)	V241A	probably benign	Het
Slc25a40	A	G	5: 8,477,489 (GRCm39)	T25A	possibly damaging	Het
Slc3a2	A	G	19: 8,685,608 (GRCm39)	S164P	probably benign	Het
Slc7a5	A	T	8: 122,610,444 (GRCm39)	W457R	probably null	Het
Slco6c1	A	G	1: 97,032,542 (GRCm39)	M303T	probably benign	Het
Smim10l1	T	C	6: 133,082,489 (GRCm39)	F12S	probably damaging	Het
Syne2	A	G	12: 75,999,560 (GRCm39)	I2318V	probably damaging	Het
Tecta	A	C	9: 42,251,581 (GRCm39)	C1781G	probably damaging	Het
Timmdc1	A	T	16: 38,319,313 (GRCm39)	H280Q	probably benign	Het
Tktl2	G	A	8: 66,964,999 (GRCm39)	V186M	probably damaging	Het
Tmem30b	A	G	12: 73,592,107 (GRCm39)	L336P	probably damaging	Het
Tmem94	A	G	11: 115,685,575 (GRCm39)	I943V	probably benign	Het
Tshb	A	G	3: 102,685,464 (GRCm39)		probably null	Het
Vcpip1	A	G	1: 9,818,035 (GRCm39)	V116A	probably benign	Het
Vmn2r76	A	G	7: 85,880,219 (GRCm39)	Y156H	probably benign	Het
Zcrb1	T	C	15: 93,295,067 (GRCm39)	N23S	probably damaging	Het
Zfyve26	T	C	12: 79,292,826 (GRCm39)	R2108G	possibly damaging	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
R3944:Rp9	UTSW	9	22,361,154 (GRCm39)	missense	probably damaging	1.00
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'- TACAGTCGTCGCAGGTCATC -3'
(R):5'- AAGACCTTTGACACCTTGCCC -3'

Sequencing Primer
(F):5'- ACGCGTCAACTGCCATTG -3'
(R):5'- TCTCAGCTAAGGTTCCCGCAG -3'

Posted On

2014-10-01