Mutagenetix > Incidental Mutation

Incidental Mutation 'R1670:Rprd2'

187531

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

039706-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.742) question?

Stock #

R1670 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95760341-95818863 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 95764803 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 1096 (T1096K)

Ref Sequence

ENSEMBL: ENSMUSP00000088297 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090791] [ENSMUST00000197501]

AlphaFold

Q6NXI6

Predicted Effect

probably damaging
Transcript: ENSMUST00000090791
AA Change: T1096K

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

SMART Domains

Protein: ENSMUSP00000088297
Gene: ENSMUSG00000028106
AA Change: T1096K

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

probably benign
Transcript: ENSMUST00000197501

Predicted Effect

unknown
Transcript: ENSMUST00000200164
AA Change: T1012K

Meta Mutation Damage Score

0.1024

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.3%

Validation Efficiency

97% (74/76)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	G	A	2: 130,712,379	P187S	probably damaging	Het
Abcc9	A	G	6: 142,594,722	V1497A	possibly damaging	Het
Adam15	T	C	3: 89,348,510		probably benign	Het
Angel2	T	A	1: 190,942,163	S371T	probably benign	Het
Atr	T	A	9: 95,861,456	N49K	probably benign	Het
Bace2	G	A	16: 97,412,135	M228I	probably damaging	Het
Bdp1	A	C	13: 100,027,433		probably null	Het
Calr	A	T	8: 84,844,119	D302E	probably benign	Het
Camta1	T	C	4: 151,079,771	D340G	probably benign	Het
Car11	C	T	7: 45,703,525	T236I	possibly damaging	Het
Cfap69	A	T	5: 5,586,409	S275T	probably benign	Het
Cib2	G	A	9: 54,548,369	R104W	probably damaging	Het
CN725425	T	C	15: 91,245,815	S294P	possibly damaging	Het
Coro7	G	A	16: 4,628,233	S876F	possibly damaging	Het
Cspg4	G	A	9: 56,897,403	V1833M	probably damaging	Het
Dennd6b	C	A	15: 89,185,337		probably benign	Het
Dhx30	A	T	9: 110,085,273	Y979N	possibly damaging	Het
Dnah8	A	T	17: 30,725,124	I1772F	probably damaging	Het
Dync2h1	A	T	9: 6,993,942	I3976N	possibly damaging	Het
Ebi3	T	C	17: 55,954,479	I125T	probably damaging	Het
Elfn2	C	T	15: 78,672,368	A660T	probably benign	Het
F12	C	T	13: 55,421,533	C209Y	probably damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fam126a	T	A	5: 23,999,991	M1L	possibly damaging	Het
Fgfr2	T	A	7: 130,180,457	D413V	probably damaging	Het
Gdf10	T	A	14: 33,932,043	I169N	possibly damaging	Het
Gdnf	T	C	15: 7,815,649	V41A	probably benign	Het
Gm9857	A	T	3: 108,940,162		probably benign	Het
Gpatch11	A	G	17: 78,839,100	E58G	possibly damaging	Het
Gpr55	A	G	1: 85,941,415	V148A	possibly damaging	Het
Gucy1b1	A	G	3: 82,045,460	I222T	probably benign	Het
Hnf4a	T	C	2: 163,562,576	S227P	probably damaging	Het
Hsfy2	A	G	1: 56,636,389	S330P	possibly damaging	Het
Ift122	T	C	6: 115,923,883	V1054A	probably benign	Het
Il27	T	A	7: 126,589,475	E175D	probably benign	Het
Lactb2	A	T	1: 13,660,417	S12T	probably damaging	Het
Lrfn2	T	C	17: 49,096,577	V576A	probably benign	Het
Mansc4	C	G	6: 147,075,191	R309T	possibly damaging	Het
Med12l	AACAGCA	AACAGCAACAGCA	3: 59,275,958		probably benign	Het
Mrpl16	C	T	19: 11,774,595	R240*	probably null	Het
Muc3	A	G	5: 137,143,995	V70A	probably benign	Het
Ndnf	A	G	6: 65,703,070	D111G	probably benign	Het
Nek4	T	C	14: 30,982,427	F688S	probably damaging	Het
Nkx2-6	T	A	14: 69,174,677	M98K	probably benign	Het
Nup188	T	C	2: 30,340,655	S1402P	probably benign	Het
Olfr1036	T	A	2: 86,075,250	V170D	probably benign	Het
Olfr1307	C	T	2: 111,944,919	C179Y	probably damaging	Het
Olfr205	A	T	16: 59,329,244	N88K	probably benign	Het
Olfr206	T	C	16: 59,345,427	I91M	possibly damaging	Het
Olfr330	A	T	11: 58,529,411	S192T	probably damaging	Het
Olfr418	T	A	1: 173,270,900	S242T	probably damaging	Het
Olfr556	A	G	7: 102,670,402	T161A	possibly damaging	Het
Parp10	A	T	15: 76,242,070	V306E	probably benign	Het
Pcnx3	A	G	19: 5,673,315	L1284P	probably damaging	Het
Pld1	A	T	3: 28,049,240	I365F	probably benign	Het
Pnisr	A	G	4: 21,865,893	D294G	probably damaging	Het
Pogz	C	T	3: 94,878,849	T863I	probably benign	Het
Ptprn2	A	C	12: 116,722,172	T84P	possibly damaging	Het
Rln1	C	T	19: 29,332,068	E104K	possibly damaging	Het
Rnf38	A	G	4: 44,138,681	S271P	probably damaging	Het
Rngtt	A	G	4: 33,368,660	T398A	probably benign	Het
Sema3e	C	T	5: 14,162,185		probably benign	Het
Sema5a	T	A	15: 32,548,799	C140S	probably damaging	Het
Shpk	A	C	11: 73,222,931	D390A	probably benign	Het
Slc22a20	C	T	19: 5,972,848		probably benign	Het
Steap2	A	G	5: 5,677,393	V314A	possibly damaging	Het
Stxbp5l	A	G	16: 37,290,927		probably null	Het
Tgm3	G	T	2: 130,041,768	E449*	probably null	Het
Tmem68	A	C	4: 3,560,627	L186V	probably damaging	Het
Ttc41	T	A	10: 86,776,252	W1130R	possibly damaging	Het
Ttpal	T	C	2: 163,615,366	F253L	possibly damaging	Het
Vmn2r99	G	T	17: 19,362,252	V40F	probably benign	Het
Xkr9	G	A	1: 13,700,943	V228M	probably damaging	Het
Zc3h7b	C	T	15: 81,777,067	A369V	probably benign	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
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
R8922:Rprd2	UTSW	3	95780584	missense	probably damaging	0.99
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'- AAAGCTGGTGACACTCTCCTGAAAC -3'
(R):5'- CTCACGCAAGCCCTCAGATGATAAG -3'

Sequencing Primer
(F):5'- CATTGTCAAAAGAGCTGCCTG -3'
(R):5'- CCCTCAGATGATAAGCATTTTGGC -3'

Posted On

2014-05-09