Mutagenetix > Incidental Mutation

Incidental Mutation 'R0142:Hnrnpr'

22365

Institutional Source

Beutler Lab

Gene Symbol

Hnrnpr

Ensembl Gene

ENSMUSG00000066037

Gene Name

heterogeneous nuclear ribonucleoprotein R

Synonyms

hnRNPR, Hnrpr, 2610528B01Rik, 2610003J05Rik

MMRRC Submission

038427-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0142 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

136310942-136359447 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 136327282 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 182 (V182E)

Ref Sequence

ENSEMBL: ENSMUSP00000138399 (fasta)

Gene Model

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

AlphaFold

Q8VHM5

Predicted Effect

probably damaging
Transcript: ENSMUST00000084219
AA Change: V81E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000081239
Gene: ENSMUSG00000066037
AA Change: V81E

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: V182E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101476
Gene: ENSMUSG00000066037
AA Change: V182E

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 damaging
Transcript: ENSMUST00000131671
AA Change: V81E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138263
Gene: ENSMUSG00000066037
AA Change: V81E

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: V182E

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000119666
Gene: ENSMUSG00000066037
AA Change: V182E

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: V182E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138399
Gene: ENSMUSG00000066037
AA Change: V182E

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

Meta Mutation Damage Score

0.8896

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 87.6%

Validation Efficiency

92% (61/66)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930021J03Rik	A	G	19: 29,718,254	S1347P	possibly damaging	Het
Abca6	T	G	11: 110,188,641	D1229A	probably damaging	Het
Abhd8	A	C	8: 71,461,862	F41V	probably damaging	Het
Ago4	T	G	4: 126,516,932	E222A	probably benign	Het
Ap3b2	T	C	7: 81,473,080	I470V	probably damaging	Het
Bcl9l	C	T	9: 44,507,112	T749M	probably benign	Het
Bicc1	T	C	10: 70,925,370	K937E	probably damaging	Het
Bmi1	G	A	2: 18,683,284		probably null	Het
Boc	A	C	16: 44,490,241	I772S	probably damaging	Het
C2	T	A	17: 34,873,528	I178F	possibly damaging	Het
Cacna1c	G	T	6: 118,603,882	A1416E	probably damaging	Het
Chst10	A	G	1: 38,871,729	L118P	probably damaging	Het
Crybg1	G	A	10: 43,999,063	T683I	possibly damaging	Het
Cul5	C	T	9: 53,635,050	V314I	probably damaging	Het
Dnajc17	C	A	2: 119,179,934	R211I	probably benign	Het
Emilin1	A	G	5: 30,913,920	T16A	probably benign	Het
Ercc6l2	A	C	13: 63,872,506		probably benign	Het
Fsd2	T	A	7: 81,559,935	D53V	probably damaging	Het
Galnt13	A	G	2: 55,098,603	D479G	probably damaging	Het
Grk3	A	T	5: 112,915,053	W643R	probably damaging	Het
Hdgf	G	A	3: 87,913,109	A4T	possibly damaging	Het
Ipo13	A	C	4: 117,905,569	L279R	probably damaging	Het
Itga9	C	A	9: 118,636,586	N169K	probably damaging	Het
Jph3	A	G	8: 121,753,371	T263A	possibly damaging	Het
Jph4	G	T	14: 55,108,326	Q625K	probably benign	Het
Kctd3	A	C	1: 188,996,398		probably null	Het
Kif26b	A	T	1: 178,915,389	S570C	probably damaging	Het
Klhl5	G	A	5: 65,143,350	W164*	probably null	Het
Lacc1	A	T	14: 77,030,799	H357Q	probably benign	Het
Lama2	A	G	10: 27,187,845	I1316T	probably benign	Het
Lcp2	C	T	11: 34,082,418	P332L	probably damaging	Het
Map3k6	A	T	4: 133,250,946	H1033L	probably benign	Het
Mfsd2b	A	G	12: 4,866,234	V252A	probably benign	Het
Myo16	T	A	8: 10,569,790	I1447N	probably benign	Het
Myo19	G	A	11: 84,894,603	R224H	probably damaging	Het
Myo5a	C	T	9: 75,160,574	H637Y	probably benign	Het
Nek10	C	T	14: 14,861,560	R539C	possibly damaging	Het
Nfix	A	T	8: 84,721,686	V404E	probably damaging	Het
Nr1i2	T	C	16: 38,253,006	R203G	probably benign	Het
Nup210l	G	A	3: 90,172,113	G968D	probably damaging	Het
Olfr1494	A	T	19: 13,749,255	I50F	probably benign	Het
Olfr697	G	T	7: 106,741,765	H56Q	probably benign	Het
Olfr884	A	T	9: 38,048,110	H296L	probably benign	Het
Phlpp2	C	T	8: 109,907,513	R242W	probably damaging	Het
Plcz1	A	G	6: 140,007,697	F398S	probably damaging	Het
Ppfibp2	C	A	7: 107,744,177	P808T	probably damaging	Het
Srpk2	T	C	5: 23,527,930	K239E	probably damaging	Het
Svep1	A	G	4: 58,118,232	V830A	probably benign	Het
Tesc	A	T	5: 118,056,570	I149F	possibly damaging	Het
Thsd7a	A	G	6: 12,418,335	W632R	probably damaging	Het
Tmprss9	A	G	10: 80,894,378	D704G	possibly damaging	Het
Tob1	T	C	11: 94,214,597	Y320H	probably damaging	Het
Trpm3	G	T	19: 22,987,916	D1582Y	probably damaging	Het
Ttc28	A	G	5: 111,277,457	K1716R	probably benign	Het
Uqcrfs1	A	G	13: 30,540,942	V205A	probably benign	Het
Usp29	G	A	7: 6,962,335	M392I	probably benign	Het
Uspl1	A	T	5: 149,188,349	Y22F	possibly damaging	Het
Virma	C	A	4: 11,548,783	N1780K	probably benign	Het
Vmn1r56	C	T	7: 5,196,373	A82T	probably benign	Het
Vmn2r5	A	T	3: 64,492,588	C553S	probably damaging	Het
Vwce	A	T	19: 10,664,612	R901W	probably damaging	Het
Wdpcp	C	A	11: 21,857,444		probably null	Het
Zfp423	A	T	8: 87,780,340	C1000*	probably null	Het
Zscan20	A	G	4: 128,585,837	F954L	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
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
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

Predicted Primers

PCR Primer
(F):5'- agtgcCTGTGTAACCTCATCTGCC -3'
(R):5'- GCTGTTGAACCGCTTTATGCTCTG -3'

Sequencing Primer
(F):5'- gccagggctatacagagaaac -3'
(R):5'- AACCGCTTTATGCTCTGGAATG -3'

Posted On

2013-04-16