Mutagenetix > Incidental Mutation

Incidental Mutation 'R8183:Snrpn'

634728

Institutional Source

Beutler Lab

Gene Symbol

Snrpn

Ensembl Gene

ENSMUSG00000102252

Gene Name

small nuclear ribonucleoprotein N

Synonyms

2410045I01Rik, Pwcr1, Peg4

MMRRC Submission

067781-MU

Accession Numbers

Essential gene?

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

Stock #

R8183 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59632243-59789967 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59634830 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 168 (Y168H)

Ref Sequence

ENSEMBL: ENSMUSP00000096003 (fasta)

Gene Model

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

AlphaFold

P63163

Predicted Effect

probably damaging
Transcript: ENSMUST00000059305
AA Change: Y168H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000055941
Gene: ENSMUSG00000102252
AA Change: Y168H

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: Y168H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000096003
Gene: ENSMUSG00000102252
AA Change: Y168H

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

noncoding transcript
Transcript: ENSMUST00000158750

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191456

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191491

Meta Mutation Damage Score

0.1240

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (51/51)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago2	T	A	15: 72,991,337 (GRCm39)	K534*	probably null	Het
Art1	A	T	7: 101,756,633 (GRCm39)	I275F	probably damaging	Het
Atp1a2	T	C	1: 172,116,918 (GRCm39)	N233S	probably damaging	Het
B3gnt2	T	A	11: 22,786,373 (GRCm39)	I272L	probably benign	Het
Bpifa1	A	G	2: 153,988,039 (GRCm39)	Q194R	possibly damaging	Het
Cand2	A	G	6: 115,768,879 (GRCm39)	E563G	probably benign	Het
Clns1a	A	G	7: 97,354,888 (GRCm39)	Y78C	probably damaging	Het
Col20a1	T	C	2: 180,640,207 (GRCm39)	V483A		Het
Col3a1	C	G	1: 45,373,970 (GRCm39)	P621R	unknown	Het
Cst9	G	A	2: 148,678,634 (GRCm39)	R88H	possibly damaging	Het
Cxxc1	T	C	18: 74,353,428 (GRCm39)	Y513H	probably damaging	Het
Dcdc2a	T	C	13: 25,291,633 (GRCm39)	F206S	possibly damaging	Het
Dgkz	C	A	2: 91,769,937 (GRCm39)	G576C	probably damaging	Het
Dpy19l3	A	G	7: 35,394,814 (GRCm39)	F575L	probably damaging	Het
Ftcd	T	A	10: 76,411,541 (GRCm39)	M1K	probably null	Het
Gtf2ird1	T	C	5: 134,386,689 (GRCm39)	D1044G	unknown	Het
Gzmc	A	T	14: 56,470,164 (GRCm39)	M111K	probably damaging	Het
Hpse	T	A	5: 100,832,984 (GRCm39)	Y437F	probably damaging	Het
Ifi203	A	G	1: 173,756,266 (GRCm39)	S506P	unknown	Het
Igsf10	A	T	3: 59,238,036 (GRCm39)	I715K	probably benign	Het
Ints9	T	C	14: 65,273,902 (GRCm39)	V569A	probably damaging	Het
Itih3	A	G	14: 30,631,433 (GRCm39)	F821S	probably benign	Het
Kcnh7	T	C	2: 62,533,321 (GRCm39)	H1186R	probably damaging	Het
Krt33a	A	G	11: 99,905,575 (GRCm39)		probably null	Het
Lonrf1	A	T	8: 36,689,819 (GRCm39)	M718K	possibly damaging	Het
Mefv	C	T	16: 3,526,446 (GRCm39)	R756K	possibly damaging	Het
Metap1d	T	A	2: 71,337,207 (GRCm39)	F40Y	possibly damaging	Het
Myh1	A	T	11: 67,092,832 (GRCm39)	D42V	possibly damaging	Het
Myo15b	T	G	11: 115,773,843 (GRCm39)		probably null	Het
Nsd1	T	C	13: 55,460,186 (GRCm39)	S2241P	probably damaging	Het
Or10q12	T	A	19: 13,746,086 (GRCm39)	Y127N	probably damaging	Het
Osbpl3	C	A	6: 50,280,089 (GRCm39)	R710L	probably benign	Het
Osbpl6	C	T	2: 76,415,404 (GRCm39)	R589C	probably damaging	Het
Pam	T	C	1: 97,762,199 (GRCm39)	T795A	probably benign	Het
Patj	A	C	4: 98,562,466 (GRCm39)	E1534D	probably damaging	Het
Plscr5	A	G	9: 92,080,655 (GRCm39)	Q47R	probably benign	Het
Ppil1	A	T	17: 29,481,053 (GRCm39)		probably null	Het
Sec23b	G	T	2: 144,401,189 (GRCm39)	V17L	probably benign	Het
Serpina3j	C	A	12: 104,284,754 (GRCm39)	Y310*	probably null	Het
Slc6a7	T	C	18: 61,140,448 (GRCm39)	S195G	probably null	Het
Tmprss15	T	C	16: 78,884,400 (GRCm39)	D94G	probably benign	Het
Tnpo3	A	T	6: 29,558,758 (GRCm39)	M724K	probably damaging	Het
Trappc11	T	G	8: 47,982,391 (GRCm39)	E116A	possibly damaging	Het
Trpc6	T	C	9: 8,653,150 (GRCm39)	F652S	possibly damaging	Het
Trrap	T	G	5: 144,765,343 (GRCm39)	S2501A	probably benign	Het
Ubr4	T	G	4: 139,209,782 (GRCm39)	S5005A	unknown	Het
Urah	A	T	7: 140,416,707 (GRCm39)	Q60L	probably benign	Het
Vmn2r28	A	T	7: 5,491,147 (GRCm39)	C367S	probably damaging	Het
Zmym1	T	C	4: 126,952,649 (GRCm39)	D44G	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
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
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'- TTTAGCAAGACAATGAGATGATGCC -3'
(R):5'- AGCAGCTCAGAAGGAGTATTTG -3'

Sequencing Primer
(F):5'- GACAATGAGATGATGCCTTTTCCTC -3'
(R):5'- TGCTTATTATGCATAAATCCCTGG -3'

Posted On

2020-07-13