Mutagenetix > Incidental Mutation

Incidental Mutation 'RF056:Rprd2'

605263

Institutional Source

Beutler Lab

Gene Symbol

Rprd2

Ensembl Gene

ENSMUSG00000028106

Gene Name

regulation of nuclear pre-mRNA domain containing 2

Synonyms

6720469I21Rik, 2810036A19Rik, 4930535B03Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.742) question?

Stock #

RF056 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

95760341-95818863 bp(-) (GRCm38)

Type of Mutation

small deletion (7 aa in frame mutation)

DNA Base Change (assembly)

CAGAGCCTGTGGTGCTCGCAGG to C at 95766319 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q6NXI6

Predicted Effect

probably benign
Transcript: ENSMUST00000090791

SMART Domains

Protein: ENSMUSP00000088297
Gene: ENSMUSG00000028106

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: ENSMUST00000200164

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Begain	CG	CGCCGCAG	12: 109,033,436		probably benign	Het
Bhlhb9	C	T	X: 135,890,490	L484F	possibly damaging	Het
Cacna1f	GA	GAGTA	X: 7,620,075		probably null	Het
Chga	GCA	GCATCA	12: 102,561,424		probably benign	Het
Cnpy3	CCT	CCTACT	17: 46,736,744		probably null	Het
Cyb5r4	CACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	CACACTGCCCAGGGATGTGACAGAGACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	9: 87,040,410		probably benign	Het
Dmkn	T	TAGAGGTGGAAGTGGTGGAAGTGGTGGA	7: 30,767,207		probably benign	Het
Efhd2	GCCGCC	GCCGCCTCCGCC	4: 141,874,767		probably benign	Het
Fam171b	C	CAGCAGA	2: 83,812,896		probably benign	Het
Fam71e1	CTGAGGGAGGA	CTGAGGGAGGAAGGCTGGATCCTGGATACCTGGGTATGAGGGAGGA	7: 44,500,527		probably null	Het
Gm10181	GAGAGAGAGAGAGA	G	9: 25,089,465		probably null	Het
Gm16494	TTT	TTTT	17: 47,016,915		probably null	Het
Hsdl2	CCACAGCTGCAG	CCACAGCTGCAGCAGCAGCACAGCTGCAG	4: 59,610,647		probably null	Het
Med12l	CAG	CAGAAG	3: 59,275,993		probably benign	Het
Nelfe	A	AGCGGGATCGAGACAGAGACAAAGG	17: 34,854,071		probably benign	Het
Ngfr	CAGG	C	11: 95,587,511		probably benign	Het
Nusap1	TACACGTTAGCAGTGAGGAGCAAGCTGAGAC	TACACGTTAGCAGTGAGGAGCAAGCTGAGACACACGTTAGCAGTGAGGAGCAAGCTGAGAC	2: 119,627,581		probably benign	Het
Nusap1	GTTAGCAGTGAGGAGCAAGCTGAGA	GTTAGCAGTGAGGAGCAAGCTGAGATACACTTTAGCAGTGAGGAGCAAGCTGAGA	2: 119,627,586		probably benign	Het
Nusap1	CAGTGAGGAGCAAGCTGAGA	CAGTGAGGAGCAAGCTGAGATACACGTTAGGAGTGAGGAGCAAGCTGAGA	2: 119,627,591		probably benign	Het
Olfr964-ps1	A	ATAGG	9: 39,686,754		probably null	Het
Pdik1l	TTGCACC	TTGCACCTGCACC	4: 134,279,502		probably benign	Het
Pdik1l	C	CCACCAA	4: 134,279,516		probably benign	Het
Pqbp1	ACACACACACACC	A	X: 7,898,759		probably benign	Het
Rbm28	AGCAACACCTCTCACCTGGGGCAGAAGCA	AGCAACACCTCTCACCTGGGGCAGAAGCAACACCTCTCACCTGGGGCAGAAGCA	6: 29,157,053		probably null	Het
Rnf126	GAGGAC	G	10: 79,759,142		probably null	Het
Rtbdn	CGG	CGGAAGAGG	8: 84,956,170		probably benign	Het
Rtbdn	GCAGCG	GCAGCGCCAGCG	8: 84,956,172		probably benign	Het
Sbp	ACAAAGATGCTGACA	ACAAAGATGCTGACAGCAAAGATGCTGACA	17: 23,945,366		probably benign	Het
Setd1a	GTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	GTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	7: 127,785,303		probably benign	Het
Setd1a	TGGTGGTGG	TGGTGGTGGGGGTGGTGG	7: 127,785,328		probably benign	Het
Sh3pxd2b	CCTGTG	CCTGTGGCTGTG	11: 32,423,055		probably benign	Het
Taf1a	CACGTTGAAGCTGTAGGTAAGTGAGACAGCGTTGAAGCTGTAGGTAAGTGAGACA	CGCGTTGAAGCTGTAGGTAAGTGAGACA	1: 183,391,029		probably benign	Het
Tcof1	TCCCCTTGGC	TCCCCTTGGCTGCTGAGATGGGCACTTTCCTAGAGACCCCCTTGGC	18: 60,833,575		probably benign	Het
Tsen2	CCAG	CCAGCAG	6: 115,560,064		probably benign	Het
Unc13b	CAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CAGAGCCAGAGCCAGAGCAAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,359		probably benign	Het
Zfp384	CCCAGGC	CCCAGGCCCAGGGCCAGGC	6: 125,036,490		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
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
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

Predicted Primers

PCR Primer
(F):5'- CAGTAAATCCCAAAGAACTGGATGG -3'
(R):5'- GCGCTGCCTGTTTAGTCTAG -3'

Sequencing Primer
(F):5'- AACTGGATGGTAGTTTAAACGTAGTG -3'
(R):5'- TTAAAGTCTATCCCACCAGAGTG -3'

Posted On

2019-12-04