Mutagenetix > Incidental Mutation

Incidental Mutation 'R7250:Hnrnpr'

563814

Institutional Source

Beutler Lab

Gene Symbol

Hnrnpr

Ensembl Gene

ENSMUSG00000066037

Gene Name

heterogeneous nuclear ribonucleoprotein R

Synonyms

hnRNPR, Hnrpr, 2610528B01Rik, 2610003J05Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7250 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

136310942-136359447 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 136332435 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 283 (D283E)

Ref Sequence

ENSEMBL: ENSMUSP00000101476 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084219] [ENSMUST00000105850] [ENSMUST00000131671] [ENSMUST00000134524] [ENSMUST00000145282] [ENSMUST00000148843]

AlphaFold

Q8VHM5

Predicted Effect

probably benign
Transcript: ENSMUST00000084219
AA Change: D182E

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000081239
Gene: ENSMUSG00000066037
AA Change: D182E

Domain	Start	End	E-Value	Type
RRM	166	240	1.27e-16	SMART
RRM	247	324	9.42e-11	SMART
RRM	342	407	3.76e-19	SMART
low complexity region	419	428	N/A	INTRINSIC
low complexity region	433	496	N/A	INTRINSIC
low complexity region	499	527	N/A	INTRINSIC
low complexity region	531	574	N/A	INTRINSIC
low complexity region	604	620	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105850
AA Change: D283E

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101476
Gene: ENSMUSG00000066037
AA Change: D283E

Domain	Start	End	E-Value	Type
RRM	166	240	1.27e-16	SMART
RRM	247	324	9.42e-11	SMART
RRM	342	407	3.76e-19	SMART
low complexity region	419	428	N/A	INTRINSIC
low complexity region	433	496	N/A	INTRINSIC
low complexity region	499	527	N/A	INTRINSIC
low complexity region	531	574	N/A	INTRINSIC
low complexity region	604	620	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131671
AA Change: D182E

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000138263
Gene: ENSMUSG00000066037
AA Change: D182E

Domain	Start	End	E-Value	Type
RRM	65	139	1.27e-16	SMART
RRM	146	223	9.42e-11	SMART
RRM	241	306	3.76e-19	SMART
low complexity region	318	327	N/A	INTRINSIC
low complexity region	332	395	N/A	INTRINSIC
low complexity region	398	426	N/A	INTRINSIC
low complexity region	430	473	N/A	INTRINSIC
low complexity region	503	519	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000134524

SMART Domains

Protein: ENSMUSP00000119666
Gene: ENSMUSG00000066037

Domain	Start	End	E-Value	Type
RRM	166	240	1.27e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000145282

Predicted Effect

probably benign
Transcript: ENSMUST00000148843
AA Change: D283E

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000138399
Gene: ENSMUSG00000066037
AA Change: D283E

Domain	Start	End	E-Value	Type
RRM	166	240	1.27e-16	SMART
RRM	247	324	9.42e-11	SMART
RRM	342	407	3.76e-19	SMART
low complexity region	419	428	N/A	INTRINSIC
low complexity region	433	496	N/A	INTRINSIC
low complexity region	499	527	N/A	INTRINSIC
low complexity region	531	574	N/A	INTRINSIC
low complexity region	604	620	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an RNA-binding protein that is a member of the spliceosome C complex, which functions in pre-mRNA processing and transport. The encoded protein also promotes transcription at the c-fos gene. Alternative splicing results in multiple transcript variants. There are pseudogenes for this gene on chromosomes 4, 11, and 10. [provided by RefSeq, Jul 2014]

Allele List at MGI

Other mutations in this stock

Total: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930480E11Rik	G	T	X: 78,370,705	M345I	probably benign	Het
Actl7b	T	A	4: 56,741,035	M108L	probably benign	Het
Adgrf3	T	A	5: 30,195,682	I934L	probably damaging	Het
Adprm	A	G	11: 67,041,624	V153A	probably benign	Het
Aif1l	G	A	2: 31,969,752	V109M	probably damaging	Het
Asphd1	T	A	7: 126,946,770	E307V	probably damaging	Het
Ate1	T	A	7: 130,519,971		probably benign	Het
BC048403	T	C	10: 121,745,471	S126P	possibly damaging	Het
BC067074	T	G	13: 113,318,815	I465R		Het
Borcs7	A	G	19: 46,699,608	H64R	probably damaging	Het
C1qtnf1	A	G	11: 118,448,350	*282W	probably null	Het
Cacna1c	A	G	6: 118,598,005	C1985R		Het
Cacna1c	A	T	6: 118,696,451	V647E		Het
Cacna1d	A	G	14: 30,075,151	S1497P	probably damaging	Het
Cacna1e	T	A	1: 154,700,489	I133F	possibly damaging	Het
Ccdc63	A	T	5: 122,122,843	L206H	probably damaging	Het
Ccdc84	A	G	9: 44,412,451		probably null	Het
D430041D05Rik	T	C	2: 104,256,616	T672A	possibly damaging	Het
D630045J12Rik	G	T	6: 38,142,611	T1732K	possibly damaging	Het
D930020B18Rik	T	C	10: 121,671,831	I158T	probably damaging	Het
Ddx52	G	A	11: 83,944,566	G106D	probably benign	Het
Dock2	A	G	11: 34,695,205	V550A	probably benign	Het
Dock2	C	T	11: 34,695,293	D521N	probably damaging	Het
F13b	T	C	1: 139,516,489		probably null	Het
Fchsd2	A	G	7: 101,259,685	K431R	possibly damaging	Het
Fez1	C	T	9: 36,867,794	R256C	probably damaging	Het
Gjd4	T	A	18: 9,280,391	Q229L	probably benign	Het
Gpr45	T	A	1: 43,032,371	I58N	probably damaging	Het
Gstm1	T	A	3: 108,016,393	I99F	probably damaging	Het
Gtpbp8	T	A	16: 44,743,862	T149S	probably damaging	Het
H2-Ab1	A	G	17: 34,267,507	D180G	probably damaging	Het
Hdhd5	A	G	6: 120,517,055	I188T	possibly damaging	Het
Hfm1	T	C	5: 106,904,331	I300V	probably benign	Het
Hsp90b1	T	C	10: 86,691,708	E768G	unknown	Het
Kcna4	C	A	2: 107,296,318	Q466K	possibly damaging	Het
Kcnk6	A	G	7: 29,232,194	L97P	probably benign	Het
Kdelc2	C	T	9: 53,390,521	Q158*	probably null	Het
Klf5	A	G	14: 99,299,019	S9G	probably benign	Het
Kmt2c	C	A	5: 25,299,491	K3606N	probably damaging	Het
Kmt2c	T	C	5: 25,309,807	T3013A	probably benign	Het
Lancl1	A	G	1: 67,009,299	Y207H	possibly damaging	Het
Lipe	G	C	7: 25,388,660		probably benign	Het
Lrrc66	T	A	5: 73,610,881	H239L	probably benign	Het
Ltbp2	C	T	12: 84,787,392	W1441*	probably null	Het
Man2a1	T	C	17: 64,636,588	S213P	probably benign	Het
Mapre2	C	T	18: 23,858,062	A171V	possibly damaging	Het
Mdn1	T	A	4: 32,695,427	D1155E	probably damaging	Het
Mki67	T	C	7: 135,699,324	D1327G	possibly damaging	Het
Mx2	T	C	16: 97,547,464	I279T	probably damaging	Het
Myo5c	A	G	9: 75,262,215	T441A	probably damaging	Het
Nlrp9a	T	G	7: 26,558,718	V587G	possibly damaging	Het
Npas2	A	T	1: 39,338,107	T517S	probably damaging	Het
Npy1r	T	C	8: 66,705,060	S341P	probably benign	Het
Ntm	A	G	9: 29,411,692	W11R	probably benign	Het
Nxpe2	A	T	9: 48,326,796	I53N	possibly damaging	Het
Olfr456	A	G	6: 42,486,755	V146A	probably benign	Het
Olfr655	A	T	7: 104,596,531	Y217N	probably damaging	Het
Olfr981	T	A	9: 40,022,754	Y120*	probably null	Het
Onecut2	T	C	18: 64,386,440	F443L	probably benign	Het
Parp2	T	A	14: 50,817,344	V248E	probably benign	Het
Pcdh12	C	A	18: 38,281,976	V699L	probably benign	Het
Pja2	G	A	17: 64,309,456	P148L	probably benign	Het
Ppip5k2	T	G	1: 97,745,462	D415A	probably benign	Het
Prss47	A	G	13: 65,052,541	S74P	probably benign	Het
Ptprg	G	T	14: 12,166,767	M723I	probably benign	Het
Qsox2	A	T	2: 26,228,432	I109N	probably damaging	Het
Ranbp3l	A	G	15: 9,011,980	E217G	probably benign	Het
Rgl2	C	T	17: 33,933,429	R367W	probably damaging	Het
Rgs12	T	A	5: 34,965,497	F208Y	probably damaging	Het
Rin3	C	T	12: 102,368,634	T268I	unknown	Het
Rttn	T	A	18: 88,989,523	D427E	probably benign	Het
Samd13	G	A	3: 146,646,324	P91S	probably benign	Het
Samd9l	T	C	6: 3,374,201	D1020G	possibly damaging	Het
Sec62	T	G	3: 30,812,347	L201V	possibly damaging	Het
Setdb1	C	T	3: 95,354,541		probably null	Het
Sf3a3	A	T	4: 124,722,915	T197S	probably benign	Het
Slc20a1	A	T	2: 129,209,924	I618F	possibly damaging	Het
Slc38a3	A	T	9: 107,656,666	M186K	probably benign	Het
Slc39a13	T	C	2: 91,063,158	T319A	probably benign	Het
Slc44a4	T	C	17: 34,918,544		probably null	Het
St3gal1	A	C	15: 67,106,729	D314E	possibly damaging	Het
Suclg1	A	G	6: 73,271,091	N265S	probably benign	Het
Sult2b1	A	T	7: 45,783,937	V2D	unknown	Het
Supv3l1	T	A	10: 62,445,067	I182F	probably damaging	Het
Tcp11l2	T	C	10: 84,587,241		probably null	Het
Tenm2	C	A	11: 36,072,798	L935F	probably damaging	Het
Tnks	T	A	8: 34,851,758	I790F	probably damaging	Het
Top2b	C	T	14: 16,420,411	T1274I	probably benign	Het
Tpi1	A	T	6: 124,812,478	I178N	probably damaging	Het
Trav9d-1	A	T	14: 52,792,696	S86C	probably damaging	Het
Treml2	A	G	17: 48,309,127	E265G	probably benign	Het
Trpm7	A	T	2: 126,826,765	S744T	possibly damaging	Het
Usp33	T	A	3: 152,392,362	L909*	probably null	Het
Vcan	A	G	13: 89,721,686	I210T	probably damaging	Het
Vcan	A	T	13: 89,731,457		probably null	Het
Vsig10l	A	T	7: 43,463,675	D17V	probably benign	Het
Zbtb7b	T	A	3: 89,379,669	T498S	probably benign	Het
Zfp366	T	A	13: 99,229,568	H412Q	probably damaging	Het
Zfp53	C	A	17: 21,509,578	D624E	probably damaging	Het
Zfp827	A	T	8: 79,190,092	D432V		Het
Zic1	T	C	9: 91,364,975	T15A	probably damaging	Het
Zswim8	T	C	14: 20,719,968	C1368R	probably damaging	Het

Other mutations in Hnrnpr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00778:Hnrnpr	APN	4	136339545	missense	unknown
IGL00844:Hnrnpr	APN	4	136339205	missense	probably benign	0.17
IGL01374:Hnrnpr	APN	4	136327418	splice site	probably benign
IGL01704:Hnrnpr	APN	4	136329381	missense	possibly damaging	0.89
IGL01825:Hnrnpr	APN	4	136339539	nonsense	probably null
IGL01843:Hnrnpr	APN	4	136339413	splice site	probably benign
IGL01871:Hnrnpr	APN	4	136339574	missense	unknown
IGL02376:Hnrnpr	APN	4	136319455	missense	probably damaging	1.00
IGL02557:Hnrnpr	APN	4	136319506	missense	probably damaging	1.00
IGL02947:Hnrnpr	APN	4	136316379	missense	probably damaging	1.00
PIT4677001:Hnrnpr	UTSW	4	136329439	missense	probably damaging	1.00
R0142:Hnrnpr	UTSW	4	136327282	missense	probably damaging	1.00
R0219:Hnrnpr	UTSW	4	136339163	splice site	probably benign
R1459:Hnrnpr	UTSW	4	136329444	missense	probably damaging	1.00
R1917:Hnrnpr	UTSW	4	136332488	nonsense	probably null
R2007:Hnrnpr	UTSW	4	136319513	unclassified	probably benign
R2364:Hnrnpr	UTSW	4	136327329	missense	possibly damaging	0.69
R3788:Hnrnpr	UTSW	4	136336313	missense	probably damaging	1.00
R4066:Hnrnpr	UTSW	4	136339346	intron	probably benign
R4232:Hnrnpr	UTSW	4	136339189	missense	probably benign	0.15
R4433:Hnrnpr	UTSW	4	136317148	missense	probably benign	0.04
R4664:Hnrnpr	UTSW	4	136317175	unclassified	probably benign
R4990:Hnrnpr	UTSW	4	136329379	missense	probably damaging	1.00
R4990:Hnrnpr	UTSW	4	136336298	missense	probably damaging	1.00
R5058:Hnrnpr	UTSW	4	136336337	missense	possibly damaging	0.89
R5328:Hnrnpr	UTSW	4	136339216	missense	probably benign	0.01
R5469:Hnrnpr	UTSW	4	136319434	missense	probably damaging	1.00
R5641:Hnrnpr	UTSW	4	136332487	missense	probably damaging	0.97
R7067:Hnrnpr	UTSW	4	136327393	missense	probably damaging	1.00
R7254:Hnrnpr	UTSW	4	136332575	missense	possibly damaging	0.92
R8213:Hnrnpr	UTSW	4	136317175	unclassified	probably benign
R8942:Hnrnpr	UTSW	4	136332480	missense	possibly damaging	0.95
R9008:Hnrnpr	UTSW	4	136329426	missense	probably damaging	0.97
R9502:Hnrnpr	UTSW	4	136329370	missense	probably damaging	0.99
R9515:Hnrnpr	UTSW	4	136336304	missense	probably damaging	1.00
R9516:Hnrnpr	UTSW	4	136336304	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTCCCAAACTCTGCATCGAG -3'
(R):5'- AGCAGTTACAGTGAACAGCTAC -3'

Sequencing Primer
(F):5'- GTCCCAAACTCTGCATCGAGTAATG -3'
(R):5'- CAGTTACAGTGAACAGCTACATTCTG -3'

Posted On

2019-06-26