Mutagenetix > Incidental Mutation

Incidental Mutation 'R8891:Rprd2'

677673

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

068753-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.742) question?

Stock #

R8891 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95760341-95818863 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 95764055 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 1345 (H1345Q)

Ref Sequence

ENSEMBL: ENSMUSP00000088297 (fasta)

Gene Model

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

AlphaFold

Q6NXI6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090791
AA Change: H1345Q

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000088297
Gene: ENSMUSG00000028106
AA Change: H1345Q

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	T	3: 138,066,759	K570*	probably null	Het
Abi1	T	C	2: 22,971,250	I99V	probably damaging	Het
Adgrg7	T	A	16: 56,752,399	E351D	probably benign	Het
Ankrd34c	T	G	9: 89,730,090	K66T	probably damaging	Het
Asap2	C	T	12: 21,112,143	R34W	probably damaging	Het
Atr	A	G	9: 95,905,760	T1469A	probably benign	Het
Btbd11	G	A	10: 85,388,094	G256R	unknown	Het
Celsr1	G	T	15: 85,937,993	R1708S	probably benign	Het
Chmp2a	T	A	7: 13,033,913	E28D	probably benign	Het
Cldn24	A	T	8: 47,822,246	N35I	probably benign	Het
Coa6	G	C	8: 126,422,831		probably null	Het
Copa	C	T	1: 172,119,251	R1009C	probably damaging	Het
Crybb2	G	A	5: 113,062,047	T150M	possibly damaging	Het
Ctnnd2	A	T	15: 30,619,930	T143S	probably benign	Het
Eid3	A	G	10: 82,867,158	N151S	probably damaging	Het
Fbxo17	G	T	7: 28,735,308	V173L	possibly damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,609,203		probably benign	Het
Galntl6	T	C	8: 57,962,399	N240S	probably damaging	Het
Gck	G	T	11: 5,901,733	S445R	probably damaging	Het
Gm21964	T	A	8: 110,110,131	S216R	possibly damaging	Het
Gm5114	C	A	7: 39,408,294	V634F	probably benign	Het
Gm8251	T	C	1: 44,057,124	I1605V	probably benign	Het
Gnat2	G	A	3: 108,098,318	D200N		Het
H13	A	G	2: 152,704,129	N390S	probably benign	Het
Helz	T	A	11: 107,662,016	M1206K	probably damaging	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Kank1	G	A	19: 25,410,075	G371R	probably benign	Het
Kif13b	A	G	14: 64,744,877	T513A	probably damaging	Het
L3mbtl4	T	C	17: 68,455,786	S105P	possibly damaging	Het
Lpo	T	A	11: 87,807,022	E653V	probably benign	Het
Lyst	A	G	13: 13,712,850	D3088G	possibly damaging	Het
Man2b1	C	A	8: 85,084,455	H72N	probably damaging	Het
Mast3	A	T	8: 70,781,157	H981Q	probably damaging	Het
Meioc	T	A	11: 102,668,420	I56N	probably benign	Het
Mul1	A	C	4: 138,434,853	K32Q	probably benign	Het
Oas1c	C	T	5: 120,808,061	S124N	probably benign	Het
Olfr1302	A	T	2: 111,780,841	I174F	probably damaging	Het
Olfr437	A	G	6: 43,167,816	I253V	probably benign	Het
Olfr794	A	G	10: 129,571,177	H174R	probably damaging	Het
Omg	T	A	11: 79,503,003	K10*	probably null	Het
Pcdhb14	T	A	18: 37,449,639	N599K	probably damaging	Het
Pcdhb18	C	A	18: 37,490,647	N343K	probably damaging	Het
Phf7	C	A	14: 31,249,656		probably benign	Het
Pramef20	C	T	4: 144,372,827	C456Y	probably damaging	Het
Qdpr	T	C	5: 45,447,640	N42S	probably damaging	Het
Rbm44	T	A	1: 91,162,414	D716E	probably benign	Het
Rsf1	G	GACGGCGGCT	7: 97,579,909		probably benign	Het
Ryr2	G	A	13: 11,799,882	A668V	probably damaging	Het
Sag	T	A	1: 87,831,961	L307Q	probably damaging	Het
Sash1	G	A	10: 8,727,970	P1106L	probably damaging	Het
Sec16b	T	A	1: 157,554,839	I615N	probably damaging	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,153,384		probably benign	Het
Slco1b2	T	C	6: 141,683,267	V600A	probably benign	Het
Sucnr1	A	G	3: 60,086,842	T264A	probably benign	Het
Tbx3	A	G	5: 119,671,918		probably benign	Het
Tigd5	T	C	15: 75,911,220	V477A	possibly damaging	Het
Ttc17	G	A	2: 94,362,419	A89V	probably damaging	Het
Twsg1	A	G	17: 65,948,662	I39T		Het
Zfp184	T	C	13: 21,959,342	F406S	probably damaging	Het
Zfp429	A	T	13: 67,390,711	C205S	probably damaging	Het
Zfp59	T	A	7: 27,854,888	D588E	probably benign	Het
Zfp64	A	T	2: 168,955,163	M1K	probably null	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
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'- AAAGCTTCCCTAGGCCGAAAG -3'
(R):5'- AGCACAGCGGAGTTCCTTTC -3'

Sequencing Primer
(F):5'- TTCCCTAGGCCGAAAGTCTGG -3'
(R):5'- AGCGGAGTTCCTTTCCCTCC -3'

Posted On

2021-08-02