Mutagenetix > Incidental Mutation

Incidental Mutation 'R8942:Hnrnpr'

681032

Institutional Source

Beutler Lab

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 #

R8942 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

136310942-136359447 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 136332480 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 197 (D197E)

Ref Sequence

ENSEMBL: ENSMUSP00000138263 (fasta)

Gene Model

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

AlphaFold

Q8VHM5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084219
AA Change: D197E

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000081239
Gene: ENSMUSG00000066037
AA Change: D197E

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: D298E

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101476
Gene: ENSMUSG00000066037
AA Change: D298E

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: ENSMUST00000131671
AA Change: D197E

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000138263
Gene: ENSMUSG00000066037
AA Change: D197E

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

SMART Domains

Protein: ENSMUSP00000138399
Gene: ENSMUSG00000066037
AA Change: D298E

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	T	14: 118,553,320	D833E	probably damaging	Het
Adgrl3	A	T	5: 81,648,721	I626L	probably benign	Het
AI182371	A	C	2: 35,100,610	L25R	probably damaging	Het
Atp2b2	G	T	6: 113,814,030	Q138K	probably benign	Het
Atp8b5	T	C	4: 43,353,658	F491L	probably damaging	Het
Bcap29	T	A	12: 31,634,354	M1L	probably damaging	Het
C1qtnf7	A	G	5: 43,616,241	D294G	probably benign	Het
Ccdc170	C	T	10: 4,534,044	A290V	probably benign	Het
Cfhr2	A	T	1: 139,813,554	L228I	probably benign	Het
Clip4	T	A	17: 71,863,773	V645D	probably benign	Het
Cyp4a31	C	T	4: 115,569,721	R173W	possibly damaging	Het
D430042O09Rik	T	G	7: 125,850,803	L1013R	probably damaging	Het
Dis3l	T	C	9: 64,307,593	K898R	probably benign	Het
Efr3b	G	T	12: 3,982,091	H172Q	possibly damaging	Het
Eipr1	A	T	12: 28,867,054	N374Y	probably damaging	Het
Exoc3l4	A	T	12: 111,425,568	E414D	possibly damaging	Het
Exoc3l4	G	T	12: 111,425,569	V415L	probably benign	Het
Faap100	G	T	11: 120,377,030	H306N	possibly damaging	Het
Gapvd1	T	C	2: 34,729,122	T80A	probably benign	Het
Gen1	A	G	12: 11,242,286	S501P	probably benign	Het
Gm10643	A	G	8: 84,064,170		probably benign	Het
Gm13084	T	C	4: 143,810,291	N490S	probably benign	Het
Hecw1	A	T	13: 14,306,810	V445D	probably benign	Het
Hells	CT	C	19: 38,953,601		probably null	Het
Hspb1	G	A	5: 135,888,074	V6M	probably damaging	Het
Iglon5	A	G	7: 43,476,891	V196A	probably benign	Het
Ints2	T	C	11: 86,212,894	T1142A	probably benign	Het
Kcnq2	T	A	2: 181,082,451	D587V	probably damaging	Het
Lmln	C	T	16: 33,080,960	P242L	probably damaging	Het
Mapt	G	A	11: 104,282,481		probably null	Het
Mrgpre	T	C	7: 143,781,265	Y167C		Het
Mtx2	A	T	2: 74,869,352	I156F	probably benign	Het
Nipbl	A	T	15: 8,351,620	S563T	probably benign	Het
Nmbr	C	T	10: 14,770,453	S357L	probably benign	Het
Olfr1192-ps1	C	T	2: 88,652,964	L271F	possibly damaging	Het
Olfr1306	T	A	2: 111,912,862	I23F	probably benign	Het
Olfr1313	T	C	2: 112,072,457	N42S	probably damaging	Het
Olfr1338	A	T	4: 118,754,397	I49N	possibly damaging	Het
Olfr1508	A	C	14: 52,463,235	I258S	probably damaging	Het
Olfr725	A	C	14: 50,035,145	L86R	probably damaging	Het
Pctp	A	G	11: 89,984,728	M203T	possibly damaging	Het
Pip4k2c	A	G	10: 127,200,215	V261A	probably benign	Het
Pm20d1	G	T	1: 131,812,047	V378F	possibly damaging	Het
Ppcdc	C	T	9: 57,434,982	R19H	probably benign	Het
Sdk1	A	G	5: 142,096,843	E1332G	probably damaging	Het
Sgce	G	T	6: 4,730,027	L66M	probably benign	Het
Sycp2l	G	T	13: 41,124,046		probably null	Het
Tars	G	T	15: 11,384,097	H695N	probably benign	Het
Tdo2	A	G	3: 81,969,544	V107A	probably benign	Het
Tmem131l	A	T	3: 83,898,486	M1550K	possibly damaging	Het
Ttf2	A	C	3: 100,961,726	S431R	probably benign	Het
Unc80	A	G	1: 66,473,309	D126G	possibly damaging	Het
Usp17lb	C	T	7: 104,841,376	V115I	possibly damaging	Het
Vezf1	A	G	11: 88,081,727	T305A	probably benign	Het
Vmn1r45	A	T	6: 89,933,894	N31K	probably benign	Het
Wdr59	T	C	8: 111,485,176	K380E	probably benign	Het
Xylt1	T	A	7: 117,634,744	Y499*	probably null	Het
Zfp777	T	C	6: 48,029,191	E467G	probably benign	Het
Zkscan4	C	A	13: 21,484,510	P406Q	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
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
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'- CCCAAACTCTGCATCGAGTAATG -3'
(R):5'- TACCGGGTTAGTGCTGCATC -3'

Sequencing Primer
(F):5'- ACTGTTGGGAGGCTTCTTCAGTC -3'
(R):5'- CATCAGCTACTTTTTGCTTTTCTAAG -3'

Posted On

2021-08-31