Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02557:Hnrnpr'

298350

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 #

IGL02557

Quality Score

Status

Chromosome

Chromosomal Location

136310942-136359447 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 136319506 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 65 (E65G)

Ref Sequence

ENSEMBL: ENSMUSP00000138263 (fasta)

Gene Model

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

AlphaFold

Q8VHM5

Predicted Effect

probably damaging
Transcript: ENSMUST00000084219
AA Change: E65G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000081239
Gene: ENSMUSG00000066037
AA Change: E65G

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: E166G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000101476
Gene: ENSMUSG00000066037
AA Change: E166G

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: ENSMUST00000125696
AA Change: E65G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000131671
AA Change: E65G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138263
Gene: ENSMUSG00000066037
AA Change: E65G

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: E166G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000119666
Gene: ENSMUSG00000066037
AA Change: E166G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000145282

Predicted Effect

probably damaging
Transcript: ENSMUST00000148843
AA Change: E166G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000138399
Gene: ENSMUSG00000066037
AA Change: E166G

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: ENSMUST00000156259

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	C	T	1: 130,742,707	P222L	probably benign	Het
AI464131	C	T	4: 41,497,900	V577M	possibly damaging	Het
Alg12	T	A	15: 88,816,207	K9*	probably null	Het
Arhgap20	T	C	9: 51,821,273	V119A	probably damaging	Het
Arhgap45	T	C	10: 80,021,638	Y178H	probably damaging	Het
Atad2	A	T	15: 58,122,597	S243T	probably benign	Het
Atp13a5	A	C	16: 29,248,182	F1013V	probably benign	Het
Atp1a2	T	G	1: 172,278,651	T865P	possibly damaging	Het
Bcas2	T	C	3: 103,171,867		probably benign	Het
Ccnk	T	C	12: 108,195,726	S297P	unknown	Het
Cdk5	A	T	5: 24,419,653	S215T	probably benign	Het
Ciita	T	A	16: 10,512,015	L798Q	probably damaging	Het
Clcn2	A	G	16: 20,708,464	S584P	probably damaging	Het
Cntn6	A	G	6: 104,774,535	Y384C	probably damaging	Het
Cyp2b10	T	A	7: 25,914,881	V260D	probably benign	Het
Dsel	A	T	1: 111,862,570	H78Q	probably damaging	Het
Eml3	T	C	19: 8,931,381		probably benign	Het
Fcgr2b	C	A	1: 170,963,322		probably null	Het
Fryl	A	T	5: 73,098,393	L765Q	probably damaging	Het
Gas2	T	A	7: 51,887,933	M2K	probably damaging	Het
Gm13941	T	C	2: 111,101,156	K44E	unknown	Het
Gm42878	A	G	5: 121,527,131	S205P	possibly damaging	Het
Hcn3	A	T	3: 89,149,871	S473R	probably damaging	Het
Ints1	A	T	5: 139,771,637	V375E	probably damaging	Het
Lama5	A	T	2: 180,190,932	C1642*	probably null	Het
Lsr	T	G	7: 30,958,494	E347A	possibly damaging	Het
Mapre2	C	A	18: 23,832,957	T33K	probably damaging	Het
Myo3b	T	A	2: 70,255,319	F772I	probably benign	Het
Nbas	T	C	12: 13,361,028	V891A	probably damaging	Het
Neurl4	A	T	11: 69,906,335	I583F	probably damaging	Het
Nsd1	T	C	13: 55,312,448	S2163P	probably damaging	Het
Nup210l	T	C	3: 90,124,230	Y288H	probably damaging	Het
Olfr1212	A	G	2: 88,958,681	I72V	probably benign	Het
Olfr1329	T	C	4: 118,917,192	T92A	probably benign	Het
Pak1	A	G	7: 97,871,587	E151G	probably benign	Het
Phtf1	A	G	3: 103,998,765	N588D	probably damaging	Het
Prom2	T	C	2: 127,529,471	T756A	possibly damaging	Het
Ptgfrn	C	T	3: 101,060,636		probably null	Het
Seh1l	T	C	18: 67,789,413	S279P	probably benign	Het
Sema3f	A	T	9: 107,687,212	M35K	probably damaging	Het
Spesp1	T	C	9: 62,273,134	E164G	possibly damaging	Het
Sprr3	T	C	3: 92,457,166	T124A	possibly damaging	Het
Trim24	A	C	6: 37,965,499		probably null	Het
Unc79	A	G	12: 103,182,159		probably benign	Het
Vmn2r77	T	A	7: 86,795,134		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
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
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
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

2015-04-16