Mutagenetix > Incidental Mutation

Incidental Mutation 'R1978:Hnrnpll'

222081

Institutional Source

Beutler Lab

Gene Symbol

Hnrnpll

Ensembl Gene

ENSMUSG00000024095

Gene Name

heterogeneous nuclear ribonucleoprotein L-like

Synonyms

Hnrpll, 2510028H02Rik, 2810036L13Rik

MMRRC Submission

039991-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.874) question?

Stock #

R1978 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80336916-80369697 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80351947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 333 (S333P)

Ref Sequence

ENSEMBL: ENSMUSP00000139372 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061331] [ENSMUST00000184297] [ENSMUST00000184635]

AlphaFold

Q921F4

Predicted Effect

probably benign
Transcript: ENSMUST00000061331
AA Change: S333P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000058308
Gene: ENSMUSG00000024095
AA Change: S333P

Domain	Start	End	E-Value	Type
low complexity region	52	104	N/A	INTRINSIC
RRM	126	195	2.99e-4	SMART
RRM	216	289	1.26e-2	SMART
low complexity region	314	325	N/A	INTRINSIC
RRM	385	454	1.36e-7	SMART
Blast:RRM_2	504	582	3e-32	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000184297

SMART Domains

Protein: ENSMUSP00000139075
Gene: ENSMUSG00000024095

Domain	Start	End	E-Value	Type
low complexity region	52	104	N/A	INTRINSIC
RRM	126	195	2.99e-4	SMART
RRM	216	289	1.26e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184578

Predicted Effect

probably benign
Transcript: ENSMUST00000184635
AA Change: S333P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000139372
Gene: ENSMUSG00000024095
AA Change: S333P

Domain	Start	End	E-Value	Type
low complexity region	52	104	N/A	INTRINSIC
RRM	126	195	2.99e-4	SMART
RRM	216	289	1.26e-2	SMART
low complexity region	314	325	N/A	INTRINSIC
RRM	385	454	1.36e-7	SMART
Blast:RRM_2	504	582	3e-32	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184889

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HNRNPLL is a master regulator of activation-induced alternative splicing in T cells. In particular, it alters splicing of CD45 (PTPRC; MIM 151460), a tyrosine phosphatase essential for T-cell development and activation (Oberdoerffer et al., 2008 [PubMed 18669861]).[supplied by OMIM, Aug 2008]
PHENOTYPE: Mice homozygous for a point mutation in a RNA recognition motif of the gene product have defects in the generation of alternative transcripts normally found in memory T cells. Total CD4⁺ T cell counts are lower, with a reduction of naï¿½ve CD44^lo T cells occurring as mice age. [provided by MGI curators]

Allele List at MGI

All alleles(6) : Gene trapped(5) Chemically induced(1)

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 64,055,880 (GRCm39)	C205*	probably null	Het
4921539E11Rik	T	A	4: 103,127,961 (GRCm39)	T55S	possibly damaging	Het
Akap12	A	G	10: 4,263,855 (GRCm39)	D88G	probably benign	Het
Ankrd53	C	A	6: 83,740,185 (GRCm39)	F84L	probably damaging	Het
Apol7b	A	C	15: 77,307,539 (GRCm39)	F319V	probably damaging	Het
Bsn	A	G	9: 107,991,748 (GRCm39)	S1335P	probably benign	Het
Cep192	T	C	18: 67,936,228 (GRCm39)		probably null	Het
Cfap57	A	G	4: 118,450,329 (GRCm39)	S598P	probably benign	Het
Commd8	T	C	5: 72,322,842 (GRCm39)	H25R	probably damaging	Het
Crisp4	T	C	1: 18,198,889 (GRCm39)	I143V	probably benign	Het
Cyp4a12b	A	T	4: 115,295,342 (GRCm39)	T483S	probably benign	Het
Dbx2	C	T	15: 95,530,234 (GRCm39)	M244I	probably damaging	Het
Dnah6	T	G	6: 73,098,953 (GRCm39)	H1982P	possibly damaging	Het
Fam220a	C	A	5: 143,548,882 (GRCm39)	P98Q	probably damaging	Het
Ggnbp1	A	G	17: 27,248,517 (GRCm39)	K29E	possibly damaging	Het
Gm14569	A	C	X: 35,695,781 (GRCm39)	M976R	probably benign	Het
Hck	G	T	2: 152,971,776 (GRCm39)	W112C	probably damaging	Het
Heatr5a	A	T	12: 51,986,441 (GRCm39)	S591T	possibly damaging	Het
Hhat	A	G	1: 192,399,415 (GRCm39)	S242P	probably benign	Het
Hoxc6	T	C	15: 102,918,439 (GRCm39)		probably null	Het
Inpp5j	G	A	11: 3,452,150 (GRCm39)	P367S	probably damaging	Het
Lamc2	A	G	1: 153,009,343 (GRCm39)		probably null	Het
Loxhd1	T	A	18: 77,409,338 (GRCm39)	I194N	possibly damaging	Het
Miga1	CCAGGGCAG	CCAG	3: 152,040,941 (GRCm39)		probably null	Het
Mkln1	C	T	6: 31,467,465 (GRCm39)	Q60*	probably null	Het
Muc21	T	A	17: 35,933,857 (GRCm39)		probably benign	Het
Mybph	C	A	1: 134,124,734 (GRCm39)	H185N	probably benign	Het
Myo1g	T	C	11: 6,470,829 (GRCm39)	D9G	possibly damaging	Het
Myo6	A	T	9: 80,136,207 (GRCm39)	D110V	probably damaging	Het
Ncoa7	A	G	10: 30,567,295 (GRCm39)	V412A	probably benign	Het
Neb	T	C	2: 52,177,357 (GRCm39)	K1328R	probably damaging	Het
Olfm5	T	A	7: 103,813,948 (GRCm39)	Q22L	unknown	Het
Or10ak7	A	T	4: 118,791,381 (GRCm39)	Y221*	probably null	Het
Or4d11	T	C	19: 12,013,705 (GRCm39)	T134A	probably benign	Het
Or5j1	C	T	2: 86,879,179 (GRCm39)	V134M	possibly damaging	Het
Or6b3	C	A	1: 92,439,499 (GRCm39)	G84C	probably damaging	Het
Or6p1	T	A	1: 174,258,657 (GRCm39)	I221N	probably damaging	Het
Or7a39	A	G	10: 78,715,114 (GRCm39)	Y36C	probably damaging	Het
P3h1	A	T	4: 119,105,173 (GRCm39)	Q717L	probably null	Het
Pclo	T	C	5: 14,763,809 (GRCm39)	I4094T	unknown	Het
Pfdn6	G	A	17: 34,158,051 (GRCm39)	R73W	probably benign	Het
Phyhipl	A	C	10: 70,395,591 (GRCm39)	M205R	possibly damaging	Het
Pitpnm1	C	T	19: 4,157,973 (GRCm39)		probably null	Het
Plcg1	A	G	2: 160,594,498 (GRCm39)		probably null	Het
Pnldc1	A	G	17: 13,125,392 (GRCm39)	S81P	possibly damaging	Het
Pno1	T	C	11: 17,154,519 (GRCm39)	I221V	possibly damaging	Het
Porcn	A	G	X: 8,070,540 (GRCm39)	V75A	probably damaging	Het
Prkcg	T	A	7: 3,353,862 (GRCm39)	C69S	probably damaging	Het
Rbbp6	G	T	7: 122,598,711 (GRCm39)		probably benign	Het
Resf1	T	A	6: 149,227,930 (GRCm39)	N325K	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Scly	A	G	1: 91,247,891 (GRCm39)	D413G	probably damaging	Het
Scn11a	G	A	9: 119,609,861 (GRCm39)	R996*	probably null	Het
Skic3	T	C	13: 76,282,934 (GRCm39)	V752A	probably benign	Het
Slc6a13	A	T	6: 121,309,332 (GRCm39)	D281V	probably damaging	Het
Slfn5	T	C	11: 82,847,442 (GRCm39)	V109A	probably benign	Het
Smyd1	A	T	6: 71,289,703 (GRCm39)		probably null	Het
Snx29	T	A	16: 11,185,588 (GRCm39)	M57K	probably benign	Het
Stag1	T	G	9: 100,770,139 (GRCm39)	I603S	probably benign	Het
Svep1	C	A	4: 58,097,292 (GRCm39)	C1417F	possibly damaging	Het
Tbc1d23	T	C	16: 57,009,714 (GRCm39)	I392V	probably benign	Het
Tchh	T	C	3: 93,354,106 (GRCm39)	L1182P	unknown	Het
Tle3	T	A	9: 61,301,915 (GRCm39)	V108E	probably damaging	Het
Tmem144	T	C	3: 79,732,707 (GRCm39)		probably null	Het
Tpr	T	G	1: 150,295,658 (GRCm39)	L894V	possibly damaging	Het
Trappc9	A	T	15: 72,871,874 (GRCm39)	V472E	probably damaging	Het
Trim38	T	C	13: 23,975,081 (GRCm39)	V340A	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Vmn1r12	T	A	6: 57,136,494 (GRCm39)	I197N	possibly damaging	Het
Vmn1r26	T	C	6: 57,986,111 (GRCm39)	Y26C	possibly damaging	Het
Vwa3a	A	G	7: 120,358,177 (GRCm39)	I83V	probably null	Het
Xirp1	C	T	9: 119,847,657 (GRCm39)	E409K	probably benign	Het
Zc3h14	T	G	12: 98,730,181 (GRCm39)	I46R	probably damaging	Het
Zfp976	A	G	7: 42,263,265 (GRCm39)	C191R	probably damaging	Het

Other mutations in Hnrnpll

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
thunder	APN	17	80,361,000 (GRCm39)	missense	probably damaging	1.00
IGL01989:Hnrnpll	APN	17	80,346,169 (GRCm39)	missense	probably benign	0.15
IGL02093:Hnrnpll	APN	17	80,351,933 (GRCm39)	missense	probably benign	0.00
IGL02141:Hnrnpll	APN	17	80,358,142 (GRCm39)	missense	probably benign	0.02
IGL02749:Hnrnpll	APN	17	80,369,420 (GRCm39)	start codon destroyed	probably null
IGL03213:Hnrnpll	APN	17	80,341,527 (GRCm39)	missense	probably damaging	1.00
Grell	UTSW	17	80,341,534 (GRCm39)	missense	probably damaging	1.00
Lindsley	UTSW	17	80,357,276 (GRCm39)	missense	probably damaging	1.00
R0477:Hnrnpll	UTSW	17	80,369,261 (GRCm39)	missense	unknown
R1599:Hnrnpll	UTSW	17	80,361,054 (GRCm39)	missense	unknown
R1700:Hnrnpll	UTSW	17	80,341,534 (GRCm39)	missense	probably benign	0.18
R1838:Hnrnpll	UTSW	17	80,346,052 (GRCm39)	missense	probably damaging	1.00
R1907:Hnrnpll	UTSW	17	80,342,758 (GRCm39)	critical splice donor site	probably null
R2079:Hnrnpll	UTSW	17	80,342,806 (GRCm39)	missense	probably benign	0.01
R4061:Hnrnpll	UTSW	17	80,340,201 (GRCm39)	missense	probably benign	0.01
R4062:Hnrnpll	UTSW	17	80,340,201 (GRCm39)	missense	probably benign	0.01
R4064:Hnrnpll	UTSW	17	80,340,201 (GRCm39)	missense	probably benign	0.01
R4226:Hnrnpll	UTSW	17	80,357,234 (GRCm39)	critical splice donor site	probably null
R4625:Hnrnpll	UTSW	17	80,358,291 (GRCm39)	nonsense	probably null
R5175:Hnrnpll	UTSW	17	80,341,499 (GRCm39)	missense	possibly damaging	0.83
R5232:Hnrnpll	UTSW	17	80,346,107 (GRCm39)	missense	probably damaging	1.00
R5620:Hnrnpll	UTSW	17	80,346,051 (GRCm39)	missense	probably damaging	1.00
R5978:Hnrnpll	UTSW	17	80,341,620 (GRCm39)	missense	probably damaging	1.00
R6183:Hnrnpll	UTSW	17	80,357,305 (GRCm39)	missense	possibly damaging	0.46
R6374:Hnrnpll	UTSW	17	80,357,303 (GRCm39)	missense	possibly damaging	0.51
R7120:Hnrnpll	UTSW	17	80,341,486 (GRCm39)	missense	probably benign	0.01
R7429:Hnrnpll	UTSW	17	80,357,276 (GRCm39)	missense	probably damaging	1.00
R7430:Hnrnpll	UTSW	17	80,357,276 (GRCm39)	missense	probably damaging	1.00
R7576:Hnrnpll	UTSW	17	80,351,943 (GRCm39)	missense	possibly damaging	0.91
R8001:Hnrnpll	UTSW	17	80,346,152 (GRCm39)	nonsense	probably null
R8010:Hnrnpll	UTSW	17	80,369,385 (GRCm39)	missense	unknown
R8060:Hnrnpll	UTSW	17	80,341,534 (GRCm39)	missense	probably damaging	1.00
R8068:Hnrnpll	UTSW	17	80,358,281 (GRCm39)	missense	possibly damaging	0.80
R8381:Hnrnpll	UTSW	17	80,337,920 (GRCm39)	missense	probably damaging	1.00
R9378:Hnrnpll	UTSW	17	80,369,291 (GRCm39)	missense	unknown
R9488:Hnrnpll	UTSW	17	80,369,385 (GRCm39)	missense	unknown
Z1177:Hnrnpll	UTSW	17	80,356,039 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAAAGGTTTTGGACAACTTCTTGG -3'
(R):5'- CCTGCAAAGCACCTAATCTTTTAC -3'

Sequencing Primer
(F):5'- TCTTGGAAATAAACTACAACAGGAG -3'
(R):5'- GCAAAGCACCTAATCTTTTACATTTG -3'

Posted On

2014-08-25