Mutagenetix > Incidental Mutation

Incidental Mutation 'R5058:Hnrnpr'

391006

Institutional Source

Beutler Lab

Gene Symbol

Hnrnpr

Ensembl Gene

ENSMUSG00000066037

Gene Name

heterogeneous nuclear ribonucleoprotein R

Synonyms

hnRNPR, Hnrpr, 2610528B01Rik, 2610003J05Rik

MMRRC Submission

042648-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5058 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

136038253-136086758 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 136063648 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 252 (T252A)

Ref Sequence

ENSEMBL: ENSMUSP00000138263 (fasta)

Gene Model

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

AlphaFold

Q8VHM5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084219
AA Change: T252A

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

SMART Domains

Protein: ENSMUSP00000081239
Gene: ENSMUSG00000066037
AA Change: T252A

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: T353A

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101476
Gene: ENSMUSG00000066037
AA Change: T353A

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: T252A

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

SMART Domains

Protein: ENSMUSP00000138263
Gene: ENSMUSG00000066037
AA Change: T252A

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

possibly damaging
Transcript: ENSMUST00000148843
AA Change: T353A

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138399
Gene: ENSMUSG00000066037
AA Change: T353A

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

noncoding transcript
Transcript: ENSMUST00000153505

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182327

Meta Mutation Damage Score

0.3271

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.2%

Validation Efficiency

100% (79/79)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprhl1	T	C	8: 13,292,625 (GRCm39)	Y222C	probably damaging	Het
Adprs	A	G	4: 126,212,238 (GRCm39)	S94P	probably damaging	Het
Atp11b	A	G	3: 35,863,510 (GRCm39)	E202G	probably benign	Het
Cacna1d	G	T	14: 29,836,201 (GRCm39)	S849*	probably null	Het
Camsap1	T	C	2: 25,829,375 (GRCm39)	D783G	probably benign	Het
Cbfa2t2	T	A	2: 154,346,665 (GRCm39)	I124N	probably damaging	Het
Ccdc13	A	T	9: 121,646,613 (GRCm39)		probably benign	Het
Cfap44	G	A	16: 44,240,567 (GRCm39)		probably null	Het
Col17a1	C	A	19: 47,673,989 (GRCm39)	E13*	probably null	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dennd6b	A	G	15: 89,071,553 (GRCm39)	L288P	possibly damaging	Het
Dhx37	A	C	5: 125,499,295 (GRCm39)	Y638D	probably benign	Het
Epb41	G	A	4: 131,734,746 (GRCm39)		probably benign	Het
Esp31	A	T	17: 38,955,500 (GRCm39)	I48L	possibly damaging	Het
Fat3	T	C	9: 15,908,154 (GRCm39)	Q2616R	probably damaging	Het
Fbxo33	A	G	12: 59,265,919 (GRCm39)	I116T	probably benign	Het
Flnb	G	T	14: 7,924,262 (GRCm38)	E1792*	probably null	Het
Fzd2	G	A	11: 102,495,633 (GRCm39)	G26R	probably damaging	Het
Gm11677	T	A	11: 111,616,264 (GRCm39)		noncoding transcript	Het
Gm7137	A	T	10: 77,623,905 (GRCm39)		probably benign	Het
Hyal5	T	C	6: 24,891,484 (GRCm39)	F433L	probably damaging	Het
Kcnmb4	T	A	10: 116,299,833 (GRCm39)		probably benign	Het
Meltf	A	G	16: 31,706,421 (GRCm39)		probably null	Het
Mllt6	G	A	11: 97,560,326 (GRCm39)	S210N	possibly damaging	Het
Muc6	T	C	7: 141,230,491 (GRCm39)	D1213G	probably benign	Het
Ncam1	A	C	9: 49,709,995 (GRCm39)	F12C	probably benign	Het
Nfxl1	A	T	5: 72,713,582 (GRCm39)	D120E	probably benign	Het
Nrg1	T	C	8: 32,314,587 (GRCm39)	Q142R	probably damaging	Het
Or10c1	A	G	17: 37,522,558 (GRCm39)	L62P	probably damaging	Het
Or1j18	T	G	2: 36,625,011 (GRCm39)	L226R	possibly damaging	Het
Or2h15	G	A	17: 38,441,432 (GRCm39)	S217F	probably damaging	Het
Or56a4	T	C	7: 104,806,355 (GRCm39)	N178S	probably damaging	Het
Or5k16	T	C	16: 58,736,435 (GRCm39)	T190A	probably benign	Het
Or8c10	C	A	9: 38,279,220 (GRCm39)	T116K	probably damaging	Het
Or8g30	C	A	9: 39,229,960 (GRCm39)	V317L	probably benign	Het
Or9s18	C	A	13: 65,300,743 (GRCm39)	A235D	possibly damaging	Het
Padi2	G	T	4: 140,659,432 (GRCm39)	V246L	probably benign	Het
Pgghg	C	T	7: 140,522,455 (GRCm39)	T63I	possibly damaging	Het
Pitpnm1	A	G	19: 4,162,758 (GRCm39)	N1117S	probably benign	Het
Plch1	G	T	3: 63,630,202 (GRCm39)	T534K	probably damaging	Het
Poc1a	G	T	9: 106,227,012 (GRCm39)		probably benign	Het
Polr3c	T	C	3: 96,630,833 (GRCm39)	I196V	probably benign	Het
Prph	A	T	15: 98,953,113 (GRCm39)		probably benign	Het
Ptprg	C	A	14: 12,037,387 (GRCm38)	T189K	possibly damaging	Het
R3hcc1	A	T	14: 69,941,463 (GRCm39)	I183N	probably damaging	Het
Rundc1	T	C	11: 101,316,363 (GRCm39)	L145P	probably benign	Het
Slc26a3	A	G	12: 31,520,964 (GRCm39)	K723E	possibly damaging	Het
Slc38a3	T	C	9: 107,536,390 (GRCm39)	E2G	possibly damaging	Het
Slc9a5	G	T	8: 106,082,490 (GRCm39)	V252L	probably benign	Het
Smim26	C	T	2: 144,437,043 (GRCm39)	T64M	probably benign	Het
Socs4	C	T	14: 47,527,589 (GRCm39)	R175*	probably null	Het
Srebf2	T	C	15: 82,066,251 (GRCm39)	S600P	probably damaging	Het
Tas2r107	A	T	6: 131,636,705 (GRCm39)	S115T	probably damaging	Het
Tenm2	T	C	11: 36,097,907 (GRCm39)	D447G	possibly damaging	Het
Thbs2	T	A	17: 14,896,591 (GRCm39)	D766V	probably damaging	Het
Tinagl1	A	G	4: 130,061,250 (GRCm39)	V300A	probably benign	Het
Tle6	T	A	10: 81,430,072 (GRCm39)	N332I	possibly damaging	Het
Tle6	C	A	10: 81,431,791 (GRCm39)	W151L	probably damaging	Het
Tnfrsf13c	C	T	15: 82,108,408 (GRCm39)	V36M	probably damaging	Het
Tns2	T	C	15: 102,016,295 (GRCm39)	I211T	possibly damaging	Het
Trp63	A	G	16: 25,701,344 (GRCm39)	N379D	probably damaging	Het
Trpc2	T	C	7: 101,738,316 (GRCm39)	W433R	probably damaging	Het
Tyw1	T	A	5: 130,305,927 (GRCm39)	L350Q	probably benign	Het
Usf3	T	C	16: 44,033,070 (GRCm39)	L76P	probably damaging	Het
Vmn2r79	T	C	7: 86,651,423 (GRCm39)	L274P	probably damaging	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
R2007:Hnrnpr	UTSW	4	136,046,824 (GRCm39)	unclassified	probably benign
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
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'- GGTAACTGTTCCCTTGGGAC -3'
(R):5'- GGTTCAGACTCCAGCAACTTAC -3'

Sequencing Primer
(F):5'- TGGGACAAAAGGCAAGAGC -3'
(R):5'- CTGCAGCTCTAGAGAATCCAGTG -3'

Posted On

2016-06-06