Mutagenetix > Incidental Mutation

Incidental Mutation 'R9485:Snrpn'

716520

Institutional Source

Beutler Lab

Gene Symbol

Snrpn

Ensembl Gene

ENSMUSG00000102252

Gene Name

small nuclear ribonucleoprotein N

Synonyms

2410045I01Rik, Pwcr1, Peg4

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.166) question?

Stock #

R9485 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59632243-59789967 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 59637212 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 35 (D35N)

Ref Sequence

ENSEMBL: ENSMUSP00000055941 (fasta)

Gene Model

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

AlphaFold

P63163

Predicted Effect

probably damaging
Transcript: ENSMUST00000059305
AA Change: D35N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000055941
Gene: ENSMUSG00000102252
AA Change: D35N

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 damaging
Transcript: ENSMUST00000098402
AA Change: D35N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000096003
Gene: ENSMUSG00000102252
AA Change: D35N

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,383,400 (GRCm39)	D855G	possibly damaging	Het
4930486L24Rik	A	T	13: 61,001,059 (GRCm39)	V159D	possibly damaging	Het
Ahnak	G	A	19: 8,979,438 (GRCm39)	A241T	probably benign	Het
Apoa4	T	C	9: 46,152,453 (GRCm39)	M1T	probably null	Het
Atn1	T	C	6: 124,722,748 (GRCm39)	K776E	unknown	Het
Atp1a2	A	G	1: 172,105,822 (GRCm39)	*948R	probably null	Het
Atp7b	T	C	8: 22,502,778 (GRCm39)	Q801R	probably damaging	Het
Birc6	T	A	17: 74,945,398 (GRCm39)	S2824T	probably damaging	Het
Cacng3	A	T	7: 122,361,435 (GRCm39)	I109F	probably damaging	Het
Cass4	T	C	2: 172,269,805 (GRCm39)	F629S	probably benign	Het
Ccdc168	T	G	1: 44,095,399 (GRCm39)	K1900Q	possibly damaging	Het
Cnot6l	T	C	5: 96,230,858 (GRCm39)	T370A	probably damaging	Het
Cntnap5c	A	C	17: 58,409,103 (GRCm39)	D447A	probably damaging	Het
Col11a2	T	A	17: 34,258,669 (GRCm39)	L14Q	unknown	Het
Dennd4a	T	G	9: 64,814,388 (GRCm39)	Y1505*	probably null	Het
Dhx32	T	C	7: 133,327,110 (GRCm39)	M464V	possibly damaging	Het
Dip2b	T	C	15: 100,052,924 (GRCm39)	V266A	probably benign	Het
Dnajb6	C	T	5: 29,986,517 (GRCm39)	Q220*	probably null	Het
Dnmt3a	G	A	12: 3,916,121 (GRCm39)	S102N	probably benign	Het
Dph5	A	T	3: 115,681,977 (GRCm39)		probably benign	Het
Ear6	T	A	14: 52,091,489 (GRCm39)	L12H		Het
Erp27	T	C	6: 136,886,548 (GRCm39)	T162A	possibly damaging	Het
Fance	T	A	17: 28,536,479 (GRCm39)	L13H	probably damaging	Het
Fanci	T	A	7: 79,089,405 (GRCm39)	V947D	probably benign	Het
Gab1	G	A	8: 81,515,484 (GRCm39)	T278M	probably damaging	Het
Gbp4	A	T	5: 105,269,796 (GRCm39)	M344K	probably damaging	Het
Gpr87	C	T	3: 59,087,005 (GRCm39)	V167M	possibly damaging	Het
Gramd1a	T	G	7: 30,829,963 (GRCm39)	D708A	unknown	Het
Gzmd	T	A	14: 56,368,160 (GRCm39)	I100F	probably benign	Het
Hcrtr1	T	A	4: 130,031,054 (GRCm39)	M77L	possibly damaging	Het
Hipk2	C	A	6: 38,680,445 (GRCm39)	R965L	possibly damaging	Het
Ift88	T	C	14: 57,675,724 (GRCm39)	M79T	probably benign	Het
Ighv1-12	T	C	12: 114,579,525 (GRCm39)	Y99C	possibly damaging	Het
Il1rl2	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	1: 40,366,470 (GRCm39)		probably benign	Het
Il22b	A	G	10: 118,130,314 (GRCm39)	V63A	probably benign	Het
Mllt1	C	T	17: 57,207,184 (GRCm39)	R220H	probably damaging	Het
Mroh8	T	C	2: 157,071,913 (GRCm39)	T531A	probably benign	Het
Myh6	T	C	14: 55,181,802 (GRCm39)	K1833R	probably benign	Het
Nfkbie	C	T	17: 45,871,353 (GRCm39)	T270I	probably damaging	Het
Or4c110	G	A	2: 88,831,709 (GRCm39)	P308S	unknown	Het
Or52b3	A	T	7: 102,204,013 (GRCm39)	N174I	probably damaging	Het
Or52e5	C	T	7: 104,718,703 (GRCm39)	H10Y	possibly damaging	Het
Pcdh8	A	T	14: 80,005,689 (GRCm39)	F900I	probably damaging	Het
Pcolce2	T	A	9: 95,520,720 (GRCm39)	C32*	probably null	Het
Pus7	A	T	5: 23,973,859 (GRCm39)	S212T	probably benign	Het
Rgs12	G	T	5: 35,189,614 (GRCm39)	W1322L	probably damaging	Het
Sec1	G	A	7: 45,328,033 (GRCm39)	T338I	probably damaging	Het
Slc25a36	T	C	9: 96,962,522 (GRCm39)	K156E	probably benign	Het
Sox9	A	G	11: 112,673,705 (GRCm39)	S99G	probably benign	Het
Spmip3	T	C	1: 177,580,545 (GRCm39)	V130A	possibly damaging	Het
Tacc3	T	C	5: 33,821,644 (GRCm39)	S135P	possibly damaging	Het
Taf2	T	C	15: 54,911,667 (GRCm39)	E583G	probably benign	Het
Tmprss7	T	A	16: 45,498,282 (GRCm39)	K366*	probably null	Het
Trpm6	G	T	19: 18,755,978 (GRCm39)	V74L	probably benign	Het
Ttbk2	G	T	2: 120,575,986 (GRCm39)	T997N	probably benign	Het
Utp25	C	A	1: 192,812,541 (GRCm39)		probably benign	Het
Vmn2r3	T	A	3: 64,183,046 (GRCm39)	I218F	probably damaging	Het
Vps50	T	C	6: 3,592,557 (GRCm39)	V730A	probably damaging	Het
Wdr47	A	T	3: 108,544,371 (GRCm39)	I665F	probably damaging	Het
Wnt7a	T	A	6: 91,343,297 (GRCm39)	N195I	probably benign	Het
Zfp131	A	G	13: 120,251,885 (GRCm39)		probably benign	Het
Zfp709	T	A	8: 72,643,669 (GRCm39)	V366E	possibly damaging	Het
Zfp985	T	A	4: 147,668,280 (GRCm39)	C383S	probably damaging	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
R2057:Snrpn	UTSW	7	59,637,204 (GRCm39)	missense	possibly damaging	0.95
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
R9656:Snrpn	UTSW	7	59,635,715 (GRCm39)	missense	possibly damaging	0.67

Predicted Primers

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

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

Posted On

2022-07-18