Mutagenetix > Incidental Mutation

Incidental Mutation 'R2007:Hnrnpr'

222472

Institutional Source

Beutler Lab

Gene Symbol

Hnrnpr

Ensembl Gene

ENSMUSG00000066037

Gene Name

heterogeneous nuclear ribonucleoprotein R

Synonyms

hnRNPR, Hnrpr, 2610528B01Rik, 2610003J05Rik

MMRRC Submission

040016-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2007 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

136038253-136086758 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 136046824 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117096 (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 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: 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 benign
Transcript: ENSMUST00000134524

SMART Domains

Protein: ENSMUSP00000119666
Gene: ENSMUSG00000066037

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

Predicted Effect

probably benign
Transcript: ENSMUST00000145282

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

probably benign
Transcript: ENSMUST00000156259

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

96% (66/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	T	6: 128,519,855 (GRCm39)	N1387K	probably benign	Het
Abca13	T	C	11: 9,141,987 (GRCm39)	F8L	probably benign	Het
Abcg5	G	T	17: 84,977,348 (GRCm39)	L270M	probably damaging	Het
Acad10	A	G	5: 121,772,814 (GRCm39)	L489S	probably damaging	Het
Acsf2	G	A	11: 94,462,466 (GRCm39)	T183I	possibly damaging	Het
Adamts7	A	T	9: 90,059,909 (GRCm39)	E282V	probably damaging	Het
Adcy4	C	T	14: 56,015,770 (GRCm39)	G440R	possibly damaging	Het
AI429214	G	A	8: 37,460,923 (GRCm39)	V24I	probably benign	Het
Angptl3	T	C	4: 98,925,634 (GRCm39)	I320T	probably damaging	Het
Apoa5	A	T	9: 46,181,665 (GRCm39)	Q247L	possibly damaging	Het
Astn1	T	G	1: 158,436,875 (GRCm39)	V811G	probably damaging	Het
Bard1	C	T	1: 71,070,562 (GRCm39)	V641I	probably benign	Het
Calb2	T	C	8: 110,894,702 (GRCm39)	E23G	probably benign	Het
Cdkl4	A	G	17: 80,863,730 (GRCm39)		probably benign	Het
Cep85l	A	G	10: 53,154,171 (GRCm39)		probably benign	Het
Cfap91	T	C	16: 38,118,616 (GRCm39)	I728V	probably benign	Het
Chd1	G	T	17: 15,951,268 (GRCm39)	G281V	probably damaging	Het
Col17a1	C	T	19: 47,656,141 (GRCm39)	G586E	probably damaging	Het
Cpne3	T	A	4: 19,553,833 (GRCm39)	D66V	probably damaging	Het
Csde1	A	T	3: 102,952,107 (GRCm39)	I204L	probably damaging	Het
Dchs1	A	T	7: 105,404,532 (GRCm39)	V2670E	probably damaging	Het
Ddx10	A	G	9: 53,124,578 (GRCm39)	V428A	probably benign	Het
Dgkh	T	A	14: 78,840,489 (GRCm39)	D530V	probably benign	Het
Dis3l	A	T	9: 64,215,558 (GRCm39)		probably null	Het
Dst	T	G	1: 34,265,093 (GRCm39)		probably benign	Het
Eml6	C	T	11: 29,798,814 (GRCm39)		probably null	Het
En1	A	T	1: 120,531,133 (GRCm39)	E124D	probably benign	Het
Exo1	G	A	1: 175,736,096 (GRCm39)	E827K	probably damaging	Het
Fktn	T	C	4: 53,735,099 (GRCm39)	F246L	possibly damaging	Het
Fndc1	G	A	17: 7,997,580 (GRCm39)		probably benign	Het
Foxp2	G	A	6: 15,396,818 (GRCm39)	C381Y	probably damaging	Het
Galnt6	A	T	15: 100,595,047 (GRCm39)	Y485N	probably damaging	Het
Gemin4	G	A	11: 76,103,444 (GRCm39)	A439V	possibly damaging	Het
Gpatch8	A	G	11: 102,391,657 (GRCm39)	I155T	unknown	Het
Hmcn2	A	G	2: 31,328,267 (GRCm39)	D4316G	possibly damaging	Het
Hpx	G	A	7: 105,244,781 (GRCm39)	R135C	probably damaging	Het
Khdrbs2	T	G	1: 32,559,629 (GRCm39)	E151A	probably benign	Het
Krt6b	A	T	15: 101,586,562 (GRCm39)	L309H	probably damaging	Het
Lce1c	G	T	3: 92,587,765 (GRCm39)	C64F	unknown	Het
Marchf6	C	T	15: 31,462,087 (GRCm39)		probably null	Het
Myt1	C	A	2: 181,437,552 (GRCm39)	R88S	probably benign	Het
Nemp1	A	G	10: 127,529,446 (GRCm39)	S194G	probably benign	Het
Nphp4	A	G	4: 152,639,111 (GRCm39)	K914R	probably damaging	Het
Or3a1	T	A	11: 74,225,212 (GRCm39)	T282S	possibly damaging	Het
Osbp	T	C	19: 11,951,265 (GRCm39)	M270T	probably benign	Het
Parg	T	C	14: 31,932,531 (GRCm39)	M457T	possibly damaging	Het
Phf20	T	C	2: 156,129,874 (GRCm39)	M482T	probably benign	Het
Pik3c2a	G	A	7: 115,941,472 (GRCm39)	T1598I	probably damaging	Het
Pkd1	T	C	17: 24,798,759 (GRCm39)	M2689T	probably damaging	Het
Plxnd1	A	T	6: 115,944,216 (GRCm39)	V1091E	probably damaging	Het
Ptcd2	A	T	13: 99,456,744 (GRCm39)	L360Q	probably damaging	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Serpinc1	A	T	1: 160,821,110 (GRCm39)	T65S	probably benign	Het
Sipa1l2	G	A	8: 126,166,176 (GRCm39)	T1486I	probably damaging	Het
Snrnp200	T	C	2: 127,068,968 (GRCm39)	L949P	probably damaging	Het
Ssc5d	T	G	7: 4,931,628 (GRCm39)	C278W	probably damaging	Het
Tbc1d14	T	G	5: 36,728,718 (GRCm39)	H216P	possibly damaging	Het
Tmem183a	A	G	1: 134,277,861 (GRCm39)	F301S	probably damaging	Het
Tmem233	A	C	5: 116,189,496 (GRCm39)	N94K	possibly damaging	Het
Tmprss13	A	G	9: 45,243,843 (GRCm39)	D193G	probably damaging	Het
Tprkb	T	C	6: 85,910,030 (GRCm39)		probably benign	Het
Tram1l1	A	G	3: 124,115,488 (GRCm39)	H216R	possibly damaging	Het
Ttn	A	G	2: 76,564,484 (GRCm39)	V28551A	probably damaging	Het
Ubtfl1	A	G	9: 18,320,547 (GRCm39)	N25S	possibly damaging	Het
Unc80	C	A	1: 66,542,935 (GRCm39)	N396K	probably damaging	Het
Vmn1r171	T	C	7: 23,332,012 (GRCm39)	L79P	probably damaging	Het
Vmn2r115	G	T	17: 23,566,927 (GRCm39)	V480F	possibly damaging	Het
Xpo4	T	C	14: 57,824,101 (GRCm39)	I995V	probably null	Het

Other mutations in Hnrnpr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00778:Hnrnpr	APN	4	136,066,856 (GRCm39)	missense	unknown
IGL00844:Hnrnpr	APN	4	136,066,516 (GRCm39)	missense	probably benign	0.17
IGL01374:Hnrnpr	APN	4	136,054,729 (GRCm39)	splice site	probably benign
IGL01704:Hnrnpr	APN	4	136,056,692 (GRCm39)	missense	possibly damaging	0.89
IGL01825:Hnrnpr	APN	4	136,066,850 (GRCm39)	nonsense	probably null
IGL01843:Hnrnpr	APN	4	136,066,724 (GRCm39)	splice site	probably benign
IGL01871:Hnrnpr	APN	4	136,066,885 (GRCm39)	missense	unknown
IGL02376:Hnrnpr	APN	4	136,046,766 (GRCm39)	missense	probably damaging	1.00
IGL02557:Hnrnpr	APN	4	136,046,817 (GRCm39)	missense	probably damaging	1.00
IGL02947:Hnrnpr	APN	4	136,043,690 (GRCm39)	missense	probably damaging	1.00
PIT4677001:Hnrnpr	UTSW	4	136,056,750 (GRCm39)	missense	probably damaging	1.00
R0142:Hnrnpr	UTSW	4	136,054,593 (GRCm39)	missense	probably damaging	1.00
R0219:Hnrnpr	UTSW	4	136,066,474 (GRCm39)	splice site	probably benign
R1459:Hnrnpr	UTSW	4	136,056,755 (GRCm39)	missense	probably damaging	1.00
R1917:Hnrnpr	UTSW	4	136,059,799 (GRCm39)	nonsense	probably null
R2364:Hnrnpr	UTSW	4	136,054,640 (GRCm39)	missense	possibly damaging	0.69
R3788:Hnrnpr	UTSW	4	136,063,624 (GRCm39)	missense	probably damaging	1.00
R4066:Hnrnpr	UTSW	4	136,066,657 (GRCm39)	intron	probably benign
R4232:Hnrnpr	UTSW	4	136,066,500 (GRCm39)	missense	probably benign	0.15
R4433:Hnrnpr	UTSW	4	136,044,459 (GRCm39)	missense	probably benign	0.04
R4664:Hnrnpr	UTSW	4	136,044,486 (GRCm39)	unclassified	probably benign
R4990:Hnrnpr	UTSW	4	136,063,609 (GRCm39)	missense	probably damaging	1.00
R4990:Hnrnpr	UTSW	4	136,056,690 (GRCm39)	missense	probably damaging	1.00
R5058:Hnrnpr	UTSW	4	136,063,648 (GRCm39)	missense	possibly damaging	0.89
R5328:Hnrnpr	UTSW	4	136,066,527 (GRCm39)	missense	probably benign	0.01
R5469:Hnrnpr	UTSW	4	136,046,745 (GRCm39)	missense	probably damaging	1.00
R5641:Hnrnpr	UTSW	4	136,059,798 (GRCm39)	missense	probably damaging	0.97
R7067:Hnrnpr	UTSW	4	136,054,704 (GRCm39)	missense	probably damaging	1.00
R7250:Hnrnpr	UTSW	4	136,059,746 (GRCm39)	missense	probably benign	0.45
R7254:Hnrnpr	UTSW	4	136,059,886 (GRCm39)	missense	possibly damaging	0.92
R8213:Hnrnpr	UTSW	4	136,044,486 (GRCm39)	unclassified	probably benign
R8942:Hnrnpr	UTSW	4	136,059,791 (GRCm39)	missense	possibly damaging	0.95
R9008:Hnrnpr	UTSW	4	136,056,737 (GRCm39)	missense	probably damaging	0.97
R9502:Hnrnpr	UTSW	4	136,056,681 (GRCm39)	missense	probably damaging	0.99
R9515:Hnrnpr	UTSW	4	136,063,615 (GRCm39)	missense	probably damaging	1.00
R9516:Hnrnpr	UTSW	4	136,063,615 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGAATCTGGTGCCTCGTGC -3'
(R):5'- TCAGAATGAATGAGGCCCCAAC -3'

Sequencing Primer
(F):5'- GCATTTCAAAGATGTGACAGTTTGTG -3'
(R):5'- GGTGGCTCACAACCATCTGTAATG -3'

Posted On

2014-08-25