Mutagenetix > Incidental Mutation

Incidental Mutation 'R2057:Snrpn'

228259

Institutional Source

Beutler Lab

Gene Symbol

Snrpn

Ensembl Gene

ENSMUSG00000102252

Gene Name

small nuclear ribonucleoprotein N

Synonyms

2410045I01Rik, Pwcr1, Peg4

MMRRC Submission

040062-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

R2057 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59632243-59789967 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59637204 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 37 (H37Q)

Ref Sequence

ENSEMBL: ENSMUSP00000096003 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059305] [ENSMUST00000098402] [ENSMUST00000179360] [ENSMUST00000189432]

AlphaFold

P63163

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059305
AA Change: H37Q

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000055941
Gene: ENSMUSG00000102252
AA Change: H37Q

Domain	Start	End	E-Value	Type
Sm	7	82	9.25e-25	SMART
low complexity region	93	119	N/A	INTRINSIC
low complexity region	148	164	N/A	INTRINSIC
low complexity region	169	209	N/A	INTRINSIC
low complexity region	212	240	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098402
AA Change: H37Q

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000096003
Gene: ENSMUSG00000102252
AA Change: H37Q

Domain	Start	End	E-Value	Type
Sm	7	82	9.25e-25	SMART
low complexity region	93	119	N/A	INTRINSIC
low complexity region	148	164	N/A	INTRINSIC
low complexity region	169	209	N/A	INTRINSIC
low complexity region	212	240	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000179360

SMART Domains

Protein: ENSMUSP00000136053
Gene: ENSMUSG00000000948

Domain	Start	End	E-Value	Type
Pfam:SNURF	1	70	4.4e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000189432

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene is one polypeptide of a small nuclear ribonucleoprotein complex, and it plays a role in pre-mRNA processing. Although individual snRNPs are believed to recognize specific nucleic acid sequences through RNA-RNA base pairing, the specific role of this family member is unknown. This protein arises from a bicistronic transcript that also encodes a protein identified as the Snrpn upstream reading frame (Snurf). Multiple transcription initiation sites have been identified and extensive alternative splicing occurs in the 5' untranslated region. Additional splice variants have been described but sequences for the complete transcripts have not been determined. The 5' UTR of this gene has been identified as an imprinting center. Alternative splicing or deletion caused by a translocation event in this paternally-expressed region in human and mouse is responsible for Angelman syndrome or Prader-Willi syndrome due to parental imprint switch failure. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted intragenic deletions are phenotypically normal. Deletions that also encompass neighboring genes on the paternal chromosome exhibit growth retardation, hypotonia, and high mortality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	G	19: 43,806,477 (GRCm39)	K764E	probably damaging	Het
Abcg2	T	C	6: 58,667,525 (GRCm39)	V129A	probably benign	Het
Adgrf5	A	G	17: 43,739,477 (GRCm39)	Y72C	possibly damaging	Het
Ago1	C	T	4: 126,337,021 (GRCm39)	R228H	probably damaging	Het
Ano1	A	G	7: 144,201,789 (GRCm39)	V334A	probably damaging	Het
Apob	A	T	12: 8,052,164 (GRCm39)	R1202*	probably null	Het
Arfgap3	G	T	15: 83,194,501 (GRCm39)	D389E	probably benign	Het
Atf6b	A	T	17: 34,867,549 (GRCm39)		probably null	Het
Atoh8	T	C	6: 72,212,112 (GRCm39)	K13E	probably damaging	Het
Bicral	G	T	17: 47,135,814 (GRCm39)	N465K	possibly damaging	Het
Bves	T	A	10: 45,219,231 (GRCm39)	Y110N	probably damaging	Het
C4b	A	G	17: 34,947,594 (GRCm39)	Y1695H	probably damaging	Het
Cage1	A	G	13: 38,207,356 (GRCm39)	V163A	probably benign	Het
Canx	T	C	11: 50,195,252 (GRCm39)	N272S	probably damaging	Het
Caskin1	G	T	17: 24,715,433 (GRCm39)	G93V	probably damaging	Het
Cd34	T	C	1: 194,641,450 (GRCm39)	V292A	probably damaging	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cdh16	C	A	8: 105,348,597 (GRCm39)	G144*	probably null	Het
Chaf1b	T	A	16: 93,691,795 (GRCm39)	H280Q	probably damaging	Het
Chpf2	G	A	5: 24,796,220 (GRCm39)	G389R	probably damaging	Het
Crb1	T	C	1: 139,242,488 (GRCm39)	Y330C	probably damaging	Het
Cux2	A	T	5: 122,007,567 (GRCm39)	V698E	probably benign	Het
Dhtkd1	A	G	2: 5,947,430 (GRCm39)	V18A	unknown	Het
Dmbt1	G	A	7: 130,707,900 (GRCm39)	A1381T	possibly damaging	Het
Enpp1	C	G	10: 24,536,090 (GRCm39)	A437P	probably damaging	Het
Fat2	C	T	11: 55,172,686 (GRCm39)	V2676I	possibly damaging	Het
Fzd2	A	G	11: 102,496,759 (GRCm39)	D401G	probably damaging	Het
Gcm2	T	C	13: 41,263,430 (GRCm39)	M1V	probably null	Het
Gnai3	C	T	3: 108,019,812 (GRCm39)	V233I	probably benign	Het
Golim4	T	A	3: 75,802,194 (GRCm39)	D366V	possibly damaging	Het
Grin1	T	A	2: 25,206,832 (GRCm39)	T110S	probably damaging	Het
Grin2a	A	G	16: 9,487,608 (GRCm39)	V430A	probably benign	Het
Gstp3	G	A	19: 4,109,282 (GRCm39)	T5I	probably damaging	Het
Il17rb	T	A	14: 29,719,111 (GRCm39)	M324L	probably benign	Het
Jmy	A	G	13: 93,596,211 (GRCm39)	Y473H	probably damaging	Het
Khdc1b	A	G	1: 21,454,534 (GRCm39)	D79G	probably benign	Het
Kremen2	T	C	17: 23,961,691 (GRCm39)	E272G	possibly damaging	Het
Lmo7	G	C	14: 102,124,614 (GRCm39)	A358P	probably damaging	Het
Mdh1b	T	C	1: 63,760,741 (GRCm39)	I107V	probably benign	Het
Mlkl	T	C	8: 112,060,242 (GRCm39)	Q48R	probably benign	Het
Myh2	G	A	11: 67,079,665 (GRCm39)		probably null	Het
Naip1	T	A	13: 100,562,081 (GRCm39)	Q1028L	probably damaging	Het
Ncald	T	A	15: 37,397,423 (GRCm39)	I86F	possibly damaging	Het
Nid1	A	C	13: 13,675,058 (GRCm39)	H926P	probably benign	Het
Nlrp9a	T	A	7: 26,256,787 (GRCm39)	I46K	possibly damaging	Het
Or1p1	A	G	11: 74,179,652 (GRCm39)	Y60C	probably damaging	Het
Or9r3	A	T	10: 129,947,859 (GRCm39)	S267T	probably benign	Het
Pak1	T	A	7: 97,557,004 (GRCm39)		probably null	Het
Parpbp	T	A	10: 87,960,824 (GRCm39)	M221L	probably benign	Het
Pde12	T	C	14: 26,390,035 (GRCm39)	I225V	probably benign	Het
Phf19	G	T	2: 34,789,620 (GRCm39)	R367S	probably benign	Het
Plcl2	A	G	17: 50,975,139 (GRCm39)		probably null	Het
Plxnb1	A	T	9: 108,938,294 (GRCm39)	I1283F	possibly damaging	Het
Pramel6	T	A	2: 87,339,059 (GRCm39)	N86K	possibly damaging	Het
Prkdc	A	G	16: 15,545,469 (GRCm39)	T1862A	probably benign	Het
Prpf40a	A	T	2: 53,034,851 (GRCm39)	I779K	probably damaging	Het
Prss3b	G	A	6: 41,009,315 (GRCm39)	T173I	probably benign	Het
Ptpn20	A	T	14: 33,352,942 (GRCm39)	E227V	probably damaging	Het
Rad54b	C	T	4: 11,606,088 (GRCm39)	R499C	probably benign	Het
Rarg	C	A	15: 102,147,939 (GRCm39)	A291S	probably damaging	Het
Rnf169	A	T	7: 99,574,615 (GRCm39)	L660Q	probably damaging	Het
Scn4a	A	G	11: 106,226,550 (GRCm39)	V670A	probably damaging	Het
Serpinb9c	A	T	13: 33,340,854 (GRCm39)	C81*	probably null	Het
Sik1	A	G	17: 32,067,771 (GRCm39)	S435P	probably benign	Het
Slc35g2	G	A	9: 100,435,329 (GRCm39)	A114V	probably damaging	Het
Slc7a14	A	T	3: 31,291,645 (GRCm39)	V211E	probably damaging	Het
Spock3	T	A	8: 63,698,204 (GRCm39)	C185*	probably null	Het
Tbc1d4	A	G	14: 101,714,591 (GRCm39)	S627P	probably damaging	Het
Tgoln1	T	C	6: 72,592,653 (GRCm39)	T276A	probably benign	Het
Tmem176b	G	A	6: 48,813,267 (GRCm39)	T64I	probably damaging	Het
Tnpo2	T	C	8: 85,776,742 (GRCm39)	L483P	probably damaging	Het
Tpte	T	A	8: 22,808,355 (GRCm39)	D163E	probably benign	Het
Trim36	A	T	18: 46,329,229 (GRCm39)	D70E	probably benign	Het
Umodl1	G	A	17: 31,227,740 (GRCm39)		probably null	Het
Wdr90	T	C	17: 26,074,173 (GRCm39)	T691A	probably benign	Het
Zdhhc8	A	G	16: 18,046,210 (GRCm39)	S118P	probably damaging	Het
Zfp438	T	C	18: 5,214,085 (GRCm39)	E291G	probably benign	Het
Zfp879	C	T	11: 50,723,428 (GRCm39)	E543K	probably benign	Het

Other mutations in Snrpn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02081:Snrpn	APN	7	59,637,194 (GRCm39)	missense	possibly damaging	0.80
IGL03349:Snrpn	APN	7	59,635,613 (GRCm39)	missense	probably damaging	0.99
R0032:Snrpn	UTSW	7	59,634,830 (GRCm39)	missense	probably damaging	0.99
R1789:Snrpn	UTSW	7	59,633,207 (GRCm39)	utr 3 prime	probably benign
R4621:Snrpn	UTSW	7	59,637,274 (GRCm39)	missense	possibly damaging	0.84
R7600:Snrpn	UTSW	7	59,638,351 (GRCm39)	start codon destroyed	probably null	0.61
R7664:Snrpn	UTSW	7	59,637,239 (GRCm39)	missense	probably benign	0.15
R8183:Snrpn	UTSW	7	59,634,830 (GRCm39)	missense	probably damaging	0.99
R8250:Snrpn	UTSW	7	59,636,633 (GRCm39)	critical splice acceptor site	probably null
R9485:Snrpn	UTSW	7	59,637,212 (GRCm39)	missense	probably damaging	1.00
R9656:Snrpn	UTSW	7	59,635,715 (GRCm39)	missense	possibly damaging	0.67

Predicted Primers

PCR Primer
(F):5'- TGCAATGGCTATGATGCAATG -3'
(R):5'- ACTTTAAGGTTCTGAGAAGTGTCG -3'

Sequencing Primer
(F):5'- GCTATGATGCAATGTAAGGATTTGAC -3'
(R):5'- TTGGCAGACTGTGGGTAA -3'

Posted On

2014-09-17