Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01843:Hnrnpr'

178110

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hnrnpr

Ensembl Gene

ENSMUSG00000066037

Gene Name

heterogeneous nuclear ribonucleoprotein R

Synonyms

hnRNPR, Hnrpr, 2610528B01Rik, 2610003J05Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01843

Quality Score

Status

Chromosome

Chromosomal Location

136310942-136359447 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 136339413 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138399 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000084219

SMART Domains

Protein: ENSMUSP00000081239
Gene: ENSMUSG00000066037

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

SMART Domains

Protein: ENSMUSP00000101476
Gene: ENSMUSG00000066037

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

SMART Domains

Protein: ENSMUSP00000138263
Gene: ENSMUSG00000066037

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: ENSMUST00000148843

SMART Domains

Protein: ENSMUSP00000138399
Gene: ENSMUSG00000066037

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

noncoding transcript
Transcript: ENSMUST00000153505

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182327

Coding Region Coverage

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	C	T	6: 128,553,338		probably benign	Het
Ap1b1	T	C	11: 5,039,169	L782P	probably damaging	Het
Arid1a	T	C	4: 133,681,454	D1914G	unknown	Het
C8a	G	A	4: 104,862,611	Q57*	probably null	Het
Cachd1	T	C	4: 100,992,872	S1144P	probably damaging	Het
Cdh23	A	T	10: 60,419,819		probably null	Het
Cenpe	A	G	3: 135,218,507	Q198R	possibly damaging	Het
Cpne8	T	C	15: 90,569,497	I228V	probably benign	Het
Cr2	A	T	1: 195,150,914		probably benign	Het
Csmd3	T	C	15: 47,658,999		probably benign	Het
Cyp2c23	A	G	19: 44,005,607	V440A	probably benign	Het
Dag1	T	C	9: 108,208,082	D620G	possibly damaging	Het
Dmxl1	T	A	18: 49,878,382	L1202*	probably null	Het
Dnah3	T	G	7: 119,943,575	H3538P	probably benign	Het
Dock8	A	T	19: 25,089,928	Q312L	probably benign	Het
E2f7	T	G	10: 110,774,735	V407G	probably benign	Het
F13b	T	C	1: 139,516,427	S500P	probably damaging	Het
F5	A	G	1: 164,211,826	I2002V	probably benign	Het
Flywch1	T	A	17: 23,760,345	M439L	possibly damaging	Het
Gcn1l1	C	A	5: 115,619,700	A2488E	probably damaging	Het
Gria1	T	C	11: 57,317,774	S832P	probably damaging	Het
Hps3	A	G	3: 20,029,001	I177T	probably benign	Het
Irgm2	G	A	11: 58,220,341	G298D	probably benign	Het
Kcnk7	G	A	19: 5,706,202	G152D	probably damaging	Het
Man2a2	T	C	7: 80,362,906	T620A	probably benign	Het
Mapk12	A	G	15: 89,137,466		probably benign	Het
Mapk6	T	C	9: 75,390,290	Y315C	probably damaging	Het
Mdga2	T	A	12: 66,723,131		probably null	Het
Met	T	A	6: 17,491,701	I154N	probably damaging	Het
Nap1l1	A	G	10: 111,492,911	R234G	possibly damaging	Het
Olfm5	C	A	7: 104,160,744	V137F	possibly damaging	Het
Olfr1423	G	T	19: 12,036,677	H22N	probably benign	Het
Pcdha11	C	T	18: 37,012,833	T659I	probably benign	Het
Pfkm	T	C	15: 98,129,306	V620A	possibly damaging	Het
Rbak	A	G	5: 143,176,600		probably benign	Het
Rbl2	A	G	8: 91,090,216	I401M	probably benign	Het
Rragc	T	C	4: 123,921,059	S183P	probably damaging	Het
Sept3	A	G	15: 82,279,613		probably benign	Het
Skiv2l2	T	C	13: 112,918,561		probably benign	Het
Slc22a6	A	T	19: 8,626,214		probably benign	Het
Spag4	A	T	2: 156,068,497	T348S	probably benign	Het
Sptbn1	T	C	11: 30,104,623	R2157G	probably benign	Het
Tmem168	G	A	6: 13,582,941	T263M	probably damaging	Het
Tnik	T	A	3: 28,570,858		probably null	Het
Tnpo2	T	A	8: 85,050,508	V549E	probably damaging	Het
Ttll7	A	C	3: 146,940,021	K545Q	possibly damaging	Het
Tubgcp5	T	G	7: 55,799,473	D139E	probably benign	Het
Vmn1r233	T	A	17: 20,994,599	N30Y	probably damaging	Het
Vmn2r25	T	G	6: 123,853,003	D63A	possibly damaging	Het
Vmn2r79	T	A	7: 87,037,277	L622Q	probably damaging	Het
Vmn2r84	T	C	10: 130,386,279	M691V	probably benign	Het
Zc3hc1	A	T	6: 30,372,730		probably benign	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
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
R7250:Hnrnpr	UTSW	4	136332435	missense	probably benign	0.45
R7254:Hnrnpr	UTSW	4	136332575	missense	possibly damaging	0.92
R8213:Hnrnpr	UTSW	4	136317175	unclassified	probably benign

Posted On

2014-05-07