Mutagenetix > Incidental Mutation

Incidental Mutation 'R4621:Snrpn'

346144

Institutional Source

Beutler Lab

Gene Symbol

Snrpn

Ensembl Gene

ENSMUSG00000102252

Gene Name

small nuclear ribonucleoprotein N

Synonyms

2410045I01Rik, Pwcr1, Peg4

MMRRC Submission

041886-MU

Accession Numbers

Essential gene?

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

Stock #

R4621 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59632243-59789967 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59637274 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 14 (D14G)

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: D14G

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000055941
Gene: ENSMUSG00000102252
AA Change: D14G

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: D14G

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000096003
Gene: ENSMUSG00000102252
AA Change: D14G

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

Meta Mutation Damage Score

0.6464

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (90/90)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd2	T	C	7: 78,975,235 (GRCm39)	Y142H	probably damaging	Het
Abra	C	T	15: 41,732,620 (GRCm39)	D149N	probably benign	Het
Acin1	A	T	14: 54,890,900 (GRCm39)		probably benign	Het
Adap2	T	A	11: 80,064,899 (GRCm39)		probably null	Het
Afdn	A	G	17: 14,109,082 (GRCm39)	E1535G	probably damaging	Het
Ajm1	G	A	2: 25,468,412 (GRCm39)	P500S	probably damaging	Het
Ak9	A	G	10: 41,282,887 (GRCm39)	N1218D	possibly damaging	Het
Angptl1	G	A	1: 156,672,494 (GRCm39)	V107M	probably damaging	Het
Arhgap26	G	A	18: 39,032,894 (GRCm39)		probably benign	Het
Cage1	A	C	13: 38,209,477 (GRCm39)	S61A	possibly damaging	Het
Cdadc1	T	C	14: 59,824,004 (GRCm39)	T163A	probably benign	Het
Celsr2	A	T	3: 108,302,532 (GRCm39)	V2568D	possibly damaging	Het
Cep44	G	A	8: 56,995,951 (GRCm39)	T166M	probably damaging	Het
Cnksr3	T	C	10: 7,076,182 (GRCm39)	K187E	possibly damaging	Het
Cyp20a1	A	G	1: 60,415,258 (GRCm39)	T295A	probably benign	Het
Dus2	T	A	8: 106,757,074 (GRCm39)	M88K	probably damaging	Het
E330034G19Rik	A	T	14: 24,346,070 (GRCm39)		probably benign	Het
Ecrg4	G	A	1: 43,776,412 (GRCm39)		probably null	Het
Efna5	T	C	17: 62,958,040 (GRCm39)	D72G	probably benign	Het
Epb41l2	T	C	10: 25,378,038 (GRCm39)		probably null	Het
Espn	A	G	4: 152,215,709 (GRCm39)	S408P	probably damaging	Het
Evi5l	T	C	8: 4,252,909 (GRCm39)		probably benign	Het
F830016B08Rik	G	A	18: 60,433,939 (GRCm39)	V341I	probably benign	Het
Flii	A	G	11: 60,606,937 (GRCm39)	L1013P	possibly damaging	Het
Fndc10	G	A	4: 155,779,264 (GRCm39)	V103M	probably damaging	Het
Frem3	T	A	8: 81,395,820 (GRCm39)		probably null	Het
Gltp	C	T	5: 114,812,188 (GRCm39)	R106Q	probably damaging	Het
Gtf3c3	A	G	1: 54,458,575 (GRCm39)	Y449H	probably damaging	Het
H1f9	G	A	11: 94,858,986 (GRCm39)	V94M	probably damaging	Het
Hmga1b	T	C	11: 120,653,866 (GRCm39)	V51A	probably damaging	Het
Hsph1	A	G	5: 149,542,308 (GRCm39)	V705A	probably benign	Het
Igkv13-84	T	C	6: 68,916,783 (GRCm39)	S27P	possibly damaging	Het
Il15ra	A	G	2: 11,723,140 (GRCm39)	N55D	possibly damaging	Het
Kctd19	T	G	8: 106,123,103 (GRCm39)	N104H	probably damaging	Het
Kif27	T	G	13: 58,478,827 (GRCm39)	D572A	probably benign	Het
Larp1b	G	A	3: 40,918,424 (GRCm39)	G22R	possibly damaging	Het
Lcn2	A	T	2: 32,274,655 (GRCm39)		probably benign	Het
Lmtk2	T	A	5: 144,111,752 (GRCm39)	I824N	probably benign	Het
Ltbp2	A	G	12: 84,856,122 (GRCm39)	I707T	probably damaging	Het
Macf1	A	G	4: 123,266,141 (GRCm39)		probably null	Het
Magel2	A	T	7: 62,027,486 (GRCm39)	H130L	unknown	Het
Mcoln1	A	G	8: 3,555,923 (GRCm39)	I73V	probably damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mycbp2	G	T	14: 103,457,415 (GRCm39)	T1627K	probably benign	Het
Myh8	A	G	11: 67,177,084 (GRCm39)	E412G	probably damaging	Het
Myo9a	T	A	9: 59,778,355 (GRCm39)	D1370E	probably benign	Het
Ndufaf5	A	G	2: 140,025,845 (GRCm39)	T135A	probably benign	Het
Neb	G	A	2: 52,161,051 (GRCm39)	Q2207*	probably null	Het
Nek3	T	C	8: 22,647,055 (GRCm39)	Y160C	probably damaging	Het
Or2y6	G	C	11: 52,104,706 (GRCm39)	L37V	probably benign	Het
Or5k8	A	T	16: 58,644,469 (GRCm39)	I201N	possibly damaging	Het
Osbpl8	A	G	10: 111,105,279 (GRCm39)	I245V	probably benign	Het
Pcdh9	T	C	14: 94,125,079 (GRCm39)	I241V	probably benign	Het
Pcdhb12	A	G	18: 37,570,213 (GRCm39)	Q453R	probably benign	Het
Pcdhb2	A	G	18: 37,428,980 (GRCm39)	T318A	probably benign	Het
Prlr	T	A	15: 10,319,462 (GRCm39)		probably benign	Het
Ptprz1	C	T	6: 23,001,453 (GRCm39)	A1181V	possibly damaging	Het
Racgap1	C	A	15: 99,524,087 (GRCm39)	S440I	probably benign	Het
Rap1gap2	A	G	11: 74,326,525 (GRCm39)		probably null	Het
Rbm5	A	G	9: 107,631,345 (GRCm39)	V244A	probably damaging	Het
Rexo5	T	G	7: 119,418,722 (GRCm39)	I254R	probably benign	Het
Robo2	A	T	16: 73,782,821 (GRCm39)	S316T	probably benign	Het
Satb2	A	T	1: 56,884,778 (GRCm39)	V382E	probably damaging	Het
Scg2	C	T	1: 79,414,381 (GRCm39)	R114Q	probably benign	Het
Scube2	T	C	7: 109,399,857 (GRCm39)	D893G	possibly damaging	Het
Spag17	A	G	3: 100,010,559 (GRCm39)	T2018A	probably benign	Het
Spata9	T	G	13: 76,116,001 (GRCm39)	F17V	possibly damaging	Het
Supt6	A	G	11: 78,103,572 (GRCm39)	Y1378H	possibly damaging	Het
Thsd7b	T	C	1: 129,358,652 (GRCm39)	S29P	possibly damaging	Het
Tmem59	A	T	4: 107,047,915 (GRCm39)		probably benign	Het
Tmem87a	A	G	2: 120,227,905 (GRCm39)	S81P	probably benign	Het
Togaram1	A	T	12: 65,029,224 (GRCm39)	E882D	possibly damaging	Het
Trbj2-4	T	A	6: 41,520,308 (GRCm39)		probably benign	Het
Trim42	T	A	9: 97,245,201 (GRCm39)	Y533F	probably benign	Het
Tssk5	C	T	15: 76,256,668 (GRCm39)	R280Q	probably benign	Het
Vmn1r82	A	G	7: 12,039,263 (GRCm39)	T179A	possibly damaging	Het
Yipf7	T	A	5: 69,676,704 (GRCm39)	Q145L	possibly 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
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'- CACTCTGAGGTATATTGCTTTAGC -3'
(R):5'- ACTTTAAGGTTCTGAGAAGTGTCG -3'

Sequencing Primer
(F):5'- ATATTGCTTTAGCTCAAAACTTCCC -3'
(R):5'- AAGCTAATGTTAGAAAACTGG -3'

Posted On

2015-09-25