Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01704:Hnrnpr'

104545

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 #

IGL01704

Quality Score

Status

Chromosome

Chromosomal Location

136310942-136359447 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 136329381 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 130 (I130V)

Ref Sequence

ENSEMBL: ENSMUSP00000138263 (fasta)

Gene Model

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

AlphaFold

Q8VHM5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084219
AA Change: I130V

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000081239
Gene: ENSMUSG00000066037
AA Change: I130V

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

possibly damaging
Transcript: ENSMUST00000105850
AA Change: I231V

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000101476
Gene: ENSMUSG00000066037
AA Change: I231V

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

possibly damaging
Transcript: ENSMUST00000131671
AA Change: I130V

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000138263
Gene: ENSMUSG00000066037
AA Change: I130V

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
AA Change: I231V

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000119666
Gene: ENSMUSG00000066037
AA Change: I231V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000145282

Predicted Effect

possibly damaging
Transcript: ENSMUST00000148843
AA Change: I231V

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000138399
Gene: ENSMUSG00000066037
AA Change: I231V

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

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Brsk1	A	G	7: 4,704,261	E271G	probably benign	Het
Card9	A	G	2: 26,356,862	F325L	probably benign	Het
Cct8l1	T	A	5: 25,517,099	S271T	probably benign	Het
Clca2	A	G	3: 145,095,218	Y125H	probably benign	Het
Csn1s2b	T	G	5: 87,813,111	S25R	probably damaging	Het
Dnmt1	C	T	9: 20,910,180	V1227I	probably damaging	Het
Fpr1	G	A	17: 17,876,972	R252W	possibly damaging	Het
Gm15155	T	A	X: 156,303,256	D69E	unknown	Het
Hltf	T	C	3: 20,083,746		probably benign	Het
Klra9	G	T	6: 130,189,781	S40*	probably null	Het
Ldoc1	C	A	X: 61,709,931	Y74*	probably null	Het
Lias	G	T	5: 65,405,330	V318F	probably damaging	Het
Mtss1	A	G	15: 59,055,083	V48A	possibly damaging	Het
Myo9b	C	T	8: 71,359,642	P2019L	probably damaging	Het
Ogdhl	T	C	14: 32,337,631		probably benign	Het
Olfr1447	T	C	19: 12,901,739	I14V	probably benign	Het
Parp4	A	G	14: 56,602,326	D497G	probably damaging	Het
Pcnx3	T	C	19: 5,667,476	D1535G	probably damaging	Het
Pcx	G	T	19: 4,621,060	K1103N	probably damaging	Het
Pdgfd	G	A	9: 6,337,327	V220M	probably damaging	Het
Pola2	A	G	19: 5,942,019	S542P	probably damaging	Het
Ppip5k1	G	A	2: 121,312,074	T1278M	possibly damaging	Het
Pramef6	C	T	4: 143,895,631	D385N	probably benign	Het
Ralgapb	T	C	2: 158,420,875	V11A	possibly damaging	Het
Rhox2f	T	A	X: 37,571,981	V124E	probably benign	Het
Rnf213	T	C	11: 119,449,876		probably null	Het
Slc38a10	T	C	11: 120,151,087		probably benign	Het
Smco1	T	C	16: 32,273,886	V125A	probably benign	Het
Tg	A	T	15: 66,671,351	Q38L	probably damaging	Het
Trpv5	A	T	6: 41,653,258	S633T	possibly damaging	Het
Vmn2r97	T	C	17: 18,947,811	F776L	probably damaging	Het
Zranb3	A	C	1: 127,967,939	V724G	possibly 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
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
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

2014-01-21