Mutagenetix > Incidental Mutation

Incidental Mutation 'R8922:Rprd2'

679308

Institutional Source

Beutler Lab

Gene Symbol

Rprd2

Ensembl Gene

ENSMUSG00000028106

Gene Name

regulation of nuclear pre-mRNA domain containing 2

Synonyms

6720469I21Rik, 2810036A19Rik, 4930535B03Rik

MMRRC Submission

068767-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.742) question?

Stock #

R8922 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95760341-95818863 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 95780584 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 252 (T252K)

Ref Sequence

ENSEMBL: ENSMUSP00000088297 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090791] [ENSMUST00000197449]

AlphaFold

Q6NXI6

Predicted Effect

probably damaging
Transcript: ENSMUST00000090791
AA Change: T252K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000088297
Gene: ENSMUSG00000028106
AA Change: T252K

Domain	Start	End	E-Value	Type
RPR	26	146	3.6e-29	SMART
Pfam:CREPT	210	351	9.3e-11	PFAM
low complexity region	431	465	N/A	INTRINSIC
low complexity region	576	591	N/A	INTRINSIC
low complexity region	612	633	N/A	INTRINSIC
low complexity region	670	686	N/A	INTRINSIC
low complexity region	777	793	N/A	INTRINSIC
low complexity region	1159	1179	N/A	INTRINSIC
low complexity region	1195	1208	N/A	INTRINSIC
low complexity region	1230	1238	N/A	INTRINSIC
low complexity region	1272	1295	N/A	INTRINSIC
low complexity region	1300	1323	N/A	INTRINSIC
low complexity region	1373	1409	N/A	INTRINSIC
low complexity region	1446	1467	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000197449
AA Change: T234K

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143240
Gene: ENSMUSG00000028106
AA Change: T234K

Domain	Start	End	E-Value	Type
RPR	26	146	3.2e-32	SMART
coiled coil region	288	313	N/A	INTRINSIC
low complexity region	314	325	N/A	INTRINSIC
low complexity region	413	447	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000200164
AA Change: T168K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (78/78)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	A	G	8: 87,568,549	D105G	possibly damaging	Het
Abhd14b	T	C	9: 106,451,636		probably null	Het
Acot1	C	T	12: 84,017,311	Q398*	probably null	Het
Adam26b	A	T	8: 43,520,179	D595E	probably damaging	Het
AF067061	A	G	13: 120,264,130	E110G	probably benign	Het
Aldh1l1	T	A	6: 90,559,274	F54I	probably damaging	Het
Arhgap33	C	T	7: 30,523,992	E871K	probably damaging	Het
Aspg	A	T	12: 112,123,396	D456V	possibly damaging	Het
Cacna1b	A	C	2: 24,732,328	S215A	possibly damaging	Het
Car3	A	T	3: 14,866,892	T108S		Het
Ccdc91	C	T	6: 147,510,860	Q23*	probably null	Het
Cd300lg	A	T	11: 102,054,202	I413F	probably damaging	Het
Ces2h	T	A	8: 105,018,124	M378K	probably benign	Het
Cfap44	C	T	16: 44,451,667	T1261I	probably benign	Het
Cir1	G	A	2: 73,287,709	S164L	possibly damaging	Het
Clasp2	A	T	9: 113,896,660	K790*	probably null	Het
Cpne8	A	T	15: 90,572,010	D183E	probably damaging	Het
Dhrs13	A	G	11: 78,032,599	I48V	possibly damaging	Het
Dpp8	G	T	9: 65,074,511	V692L	probably benign	Het
Exoc2	A	T	13: 30,871,855	I660N	probably benign	Het
Exosc5	T	C	7: 25,664,248	V88A	probably benign	Het
Extl3	G	A	14: 65,054,806	T856I	probably damaging	Het
Flnc	T	C	6: 29,456,836	V2277A	probably damaging	Het
Frmd8	A	G	19: 5,873,267	I52T	probably benign	Het
Gm10282	A	G	8: 72,305,109	S25P	probably benign	Het
Gm21671	C	T	5: 25,951,596	M128I	possibly damaging	Het
Gm8947	C	T	1: 151,192,904	R163C	probably benign	Het
Golga7	A	T	8: 23,250,272	C81S	probably damaging	Het
Grik1	A	C	16: 87,896,279	S879A	unknown	Het
Helz	A	G	11: 107,649,159	T1002A	possibly damaging	Het
Hes1	T	A	16: 30,065,907	L62*	probably null	Het
Hnrnpdl	A	T	5: 100,036,560	Y371*	probably null	Het
Ifna11	T	C	4: 88,820,194	V79A	probably benign	Het
Itga4	A	G	2: 79,255,594		probably benign	Het
Kap	T	C	6: 133,850,091	I110V	probably benign	Het
Lmbrd2	A	G	15: 9,172,144	K342E	probably damaging	Het
Lrba	A	G	3: 86,356,666	D1549G	probably damaging	Het
Luzp1	C	T	4: 136,542,922	H819Y	probably damaging	Het
Mmp21	T	A	7: 133,674,271		probably benign	Het
Mto1	T	C	9: 78,470,646	V590A	probably benign	Het
Myom3	T	C	4: 135,764,911	L122P	probably damaging	Het
Nat10	T	C	2: 103,752,593	Y161C	probably damaging	Het
Ncor2	A	G	5: 125,086,875	V197A	unknown	Het
Olfr140	C	A	2: 90,052,351		probably benign	Het
Olfr1445	A	G	19: 12,884,094	Y71C	probably damaging	Het
Olfr501-ps1	T	A	7: 108,508,750	D231E	unknown	Het
Olfr530	T	A	7: 140,373,476	I45F	possibly damaging	Het
Olfr680-ps1	C	A	7: 105,091,262	V126L	probably benign	Het
Opn4	A	C	14: 34,592,998	S439R	probably benign	Het
Pik3c2a	G	T	7: 116,418,424	Q33K	probably damaging	Het
Pm20d1	G	T	1: 131,801,115	S93I	possibly damaging	Het
Pou3f1	C	T	4: 124,658,383	A226V	possibly damaging	Het
Ppl	T	C	16: 5,105,951	E191G	probably benign	Het
Prkag1	T	C	15: 98,814,266	T208A	probably benign	Het
Rb1cc1	T	C	1: 6,248,970	I871T	probably benign	Het
Rhd	T	C	4: 134,885,316	S293P	probably damaging	Het
Scn5a	C	A	9: 119,534,700	R458L	probably benign	Het
Scrib	C	T	15: 76,061,738		probably null	Het
Sec24d	G	A	3: 123,350,839	G655E	probably damaging	Het
Serpine3	A	G	14: 62,673,054	R199G	probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,467,570		probably benign	Het
Slc44a1	A	G	4: 53,544,545	K419E	probably damaging	Het
Styxl1	T	C	5: 135,747,780	E318G	probably benign	Het
Tesmin	A	G	19: 3,404,163	K346E	probably damaging	Het
Thpo	A	T	16: 20,728,930	L6Q	unknown	Het
Tlr2	T	A	3: 83,837,768	E336V	probably benign	Het
Tmem167b	A	G	3: 108,560,225	L35P	probably benign	Het
Topaz1	A	T	9: 122,796,036	E1395D	possibly damaging	Het
Trim29	G	T	9: 43,322,339	R434L	possibly damaging	Het
Trim68	T	C	7: 102,678,343	I468V	probably benign	Het
Ttn	C	A	2: 76,712,284	V33453F	probably benign	Het
Ubac1	A	T	2: 26,006,609	V298D	probably damaging	Het
Vmn1r185	C	A	7: 26,611,400	V227F	probably damaging	Het
Vmn1r21	T	A	6: 57,843,844	H205L	probably damaging	Het
Zbtb16	A	G	9: 48,832,557	Y152H	probably benign	Het
Zbtb20	A	T	16: 43,577,605	N19I	probably damaging	Het
Zfp438	A	G	18: 5,213,422	M512T	possibly damaging	Het

Other mutations in Rprd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00766:Rprd2	APN	3	95765379	missense	possibly damaging	0.95
IGL00773:Rprd2	APN	3	95765109	missense	probably damaging	1.00
IGL00792:Rprd2	APN	3	95785104	missense	probably benign	0.05
IGL01022:Rprd2	APN	3	95763754	nonsense	probably null
IGL01121:Rprd2	APN	3	95776550	missense	probably damaging	1.00
IGL01299:Rprd2	APN	3	95776547	missense	probably damaging	1.00
IGL01387:Rprd2	APN	3	95765319	missense	probably benign
IGL01414:Rprd2	APN	3	95765525	missense	probably damaging	1.00
IGL02283:Rprd2	APN	3	95765503	missense	probably damaging	0.98
IGL02336:Rprd2	APN	3	95787310	missense	probably benign	0.17
R0131:Rprd2	UTSW	3	95774361	missense	probably damaging	1.00
R0131:Rprd2	UTSW	3	95774361	missense	probably damaging	1.00
R0132:Rprd2	UTSW	3	95774361	missense	probably damaging	1.00
R0574:Rprd2	UTSW	3	95774357	missense	possibly damaging	0.58
R0718:Rprd2	UTSW	3	95766387	missense	probably benign	0.30
R0847:Rprd2	UTSW	3	95765413	missense	probably benign	0.00
R0942:Rprd2	UTSW	3	95765418	missense	probably damaging	1.00
R0943:Rprd2	UTSW	3	95784247	missense	possibly damaging	0.88
R0980:Rprd2	UTSW	3	95765904	missense	probably damaging	1.00
R1448:Rprd2	UTSW	3	95818576	missense	possibly damaging	0.57
R1542:Rprd2	UTSW	3	95765676	missense	possibly damaging	0.69
R1577:Rprd2	UTSW	3	95764735	missense	probably damaging	1.00
R1598:Rprd2	UTSW	3	95818739	unclassified	probably benign
R1640:Rprd2	UTSW	3	95763747	unclassified	probably benign
R1670:Rprd2	UTSW	3	95764803	missense	probably damaging	1.00
R2430:Rprd2	UTSW	3	95764795	nonsense	probably null
R2966:Rprd2	UTSW	3	95766433	splice site	probably null
R3612:Rprd2	UTSW	3	95764152	missense	probably damaging	0.98
R3712:Rprd2	UTSW	3	95764560	missense	probably damaging	0.97
R3890:Rprd2	UTSW	3	95765224	missense	probably damaging	1.00
R4777:Rprd2	UTSW	3	95787374	missense	probably benign	0.41
R4783:Rprd2	UTSW	3	95774333	missense	probably benign	0.03
R4832:Rprd2	UTSW	3	95774171	missense	probably damaging	1.00
R4928:Rprd2	UTSW	3	95764537	missense	probably damaging	1.00
R4976:Rprd2	UTSW	3	95766349	missense	probably damaging	1.00
R4989:Rprd2	UTSW	3	95765320	missense	probably benign	0.03
R5134:Rprd2	UTSW	3	95765320	missense	probably benign	0.03
R5244:Rprd2	UTSW	3	95790182	missense	possibly damaging	0.80
R5314:Rprd2	UTSW	3	95764089	missense	possibly damaging	0.53
R5579:Rprd2	UTSW	3	95785059	missense	probably damaging	1.00
R5954:Rprd2	UTSW	3	95764863	missense	probably damaging	1.00
R6016:Rprd2	UTSW	3	95787373	missense	probably damaging	0.97
R6332:Rprd2	UTSW	3	95780441	missense	probably damaging	0.99
R6403:Rprd2	UTSW	3	95766087	missense	possibly damaging	0.77
R6415:Rprd2	UTSW	3	95774219	missense	probably benign	0.00
R7064:Rprd2	UTSW	3	95765016	missense	probably damaging	1.00
R7313:Rprd2	UTSW	3	95776710	missense	probably damaging	1.00
R7496:Rprd2	UTSW	3	95765775	missense	probably damaging	1.00
R7535:Rprd2	UTSW	3	95776587	missense	probably damaging	0.96
R8716:Rprd2	UTSW	3	95776793	missense	probably damaging	1.00
R8822:Rprd2	UTSW	3	95784301	missense	probably damaging	1.00
R8891:Rprd2	UTSW	3	95764055	missense	possibly damaging	0.85
R9030:Rprd2	UTSW	3	95784310	missense	probably benign	0.15
R9623:Rprd2	UTSW	3	95772193	missense	probably benign	0.30
RF034:Rprd2	UTSW	3	95766320	small deletion	probably benign
RF056:Rprd2	UTSW	3	95766319	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- ACGTTAGCGACCACTTTCAC -3'
(R):5'- ACCCCAGATGTGAGGAATAGC -3'

Sequencing Primer
(F):5'- ACTTCCTTGTACTGTGCTTCATAG -3'
(R):5'- GTGAGGAATAGCTTACTTTTTGCCAC -3'

Posted On

2021-08-02