Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02947:Hnrnpr'

364795

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 #

IGL02947

Quality Score

Status

Chromosome

Chromosomal Location

136310942-136359447 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 136316379 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 59 (D59G)

Ref Sequence

ENSEMBL: ENSMUSP00000119666 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084219] [ENSMUST00000105850] [ENSMUST00000125696] [ENSMUST00000131671] [ENSMUST00000134524] [ENSMUST00000145282] [ENSMUST00000148843] [ENSMUST00000156259]

AlphaFold

Q8VHM5

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 damaging
Transcript: ENSMUST00000105850
AA Change: D59G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101476
Gene: ENSMUSG00000066037
AA Change: D59G

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: ENSMUST00000125696

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 damaging
Transcript: ENSMUST00000134524
AA Change: D59G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000119666
Gene: ENSMUSG00000066037
AA Change: D59G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000145282
AA Change: D59G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000148843
AA Change: D59G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138399
Gene: ENSMUSG00000066037
AA Change: D59G

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 damaging
Transcript: ENSMUST00000156259
AA Change: D59G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001L19Rik	T	A	13: 68,611,193	F95L	probably benign	Het
Aasdh	A	G	5: 76,902,110	V13A	probably benign	Het
Atp8b5	T	A	4: 43,305,774	I106K	possibly damaging	Het
Cdh15	T	C	8: 122,865,372	S633P	probably benign	Het
Celsr3	A	G	9: 108,845,935	T228A	probably benign	Het
Chrng	A	G	1: 87,209,884		probably null	Het
Coprs	T	C	8: 13,885,782	E79G	probably damaging	Het
Cpb2	A	C	14: 75,283,318	Y391S	probably damaging	Het
Cyp2j8	A	T	4: 96,470,578	I368N	probably damaging	Het
Ddah1	T	C	3: 145,759,087	F76L	probably benign	Het
Eif2ak4	A	G	2: 118,431,033	T573A	probably benign	Het
Exoc6b	T	A	6: 84,858,429	M375L	probably benign	Het
Fasn	T	C	11: 120,815,676	E994G	probably damaging	Het
Fem1a	T	A	17: 56,258,640	C578S	probably benign	Het
Garnl3	A	G	2: 33,046,594	S188P	probably damaging	Het
Gpn3	T	C	5: 122,378,488	V60A	possibly damaging	Het
Hydin	A	T	8: 110,418,462	E815V	probably damaging	Het
Itga9	C	T	9: 118,658,533	T228M	probably damaging	Het
Kpna7	T	C	5: 144,994,074	I320M	probably damaging	Het
Lnpep	T	C	17: 17,570,972	T437A	probably damaging	Het
Ltf	C	T	9: 111,038,947	T48I	probably benign	Het
Masp1	T	G	16: 23,494,726	D153A	probably damaging	Het
Mcpt9	T	A	14: 56,026,916	R241*	probably null	Het
Msantd4	T	A	9: 4,384,787	S171T	probably damaging	Het
Nos1	G	A	5: 117,943,317	V1229M	probably damaging	Het
Npc1l1	A	G	11: 6,229,246	S55P	probably benign	Het
Oc90	T	C	15: 65,888,134	K212R	probably benign	Het
Olfr1095	C	T	2: 86,850,786	R304K	probably benign	Het
Olfr446	A	G	6: 42,927,896	I222V	probably benign	Het
Olfr771	C	A	10: 129,160,570	C138F	probably damaging	Het
Prr12	T	A	7: 45,048,556	Q645L	unknown	Het
Psmd9	A	G	5: 123,246,215	I145V	probably benign	Het
Rbks	T	C	5: 31,660,063	I121V	probably benign	Het
Rnase2b	A	T	14: 51,162,807	Y115F	probably damaging	Het
Sarnp	A	G	10: 128,839,854	E78G	probably benign	Het
Sltm	A	G	9: 70,591,664	S1007G	probably benign	Het
Spata31d1c	T	A	13: 65,034,945	Y100*	probably null	Het
Srrm2	T	C	17: 23,810,746	S222P	probably benign	Het
Sult3a1	G	A	10: 33,864,050	R35Q	possibly damaging	Het
Tfap4	T	C	16: 4,551,360	D132G	probably damaging	Het
Tmem53	C	T	4: 117,268,088	Q111*	probably null	Het
Togaram1	T	A	12: 65,021,500	V1709D	probably damaging	Het
Trpm3	A	T	19: 22,901,119	D628V	probably damaging	Het
Ttn	T	A	2: 76,714,494	K31009*	probably null	Het
Vldlr	A	G	19: 27,239,720	I58V	probably benign	Het
Vmn1r4	T	C	6: 56,957,246	F245S	probably benign	Het
Vrtn	T	A	12: 84,648,484	S3T	probably damaging	Het
Vwa7	A	G	17: 35,023,500		probably null	Het
Wrnip1	T	A	13: 32,822,070	Y632N	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
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
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

Posted On

2015-12-18