Mutagenetix > Incidental Mutation

Incidental Mutation 'R0279:Ppan'

24554

Institutional Source

Beutler Lab

Gene Symbol

Ppan

Ensembl Gene

ENSMUSG00000004100

Gene Name

peter pan homolog

Synonyms

A230087P06Rik, SSF1

MMRRC Submission

038501-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R0279 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20799471-20803474 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20802825 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 327 (N327S)

Ref Sequence

ENSEMBL: ENSMUSP00000004203 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004203] [ENSMUST00000004206] [ENSMUST00000214331]

AlphaFold

Q91YU8

Predicted Effect

probably benign
Transcript: ENSMUST00000004203
AA Change: N327S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000004203
Gene: ENSMUSG00000004100
AA Change: N327S

Domain	Start	End	E-Value	Type
Brix	32	286	1.13e-77	SMART
Blast:Brix	321	429	6e-9	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000004206

SMART Domains

Protein: ENSMUSP00000004206
Gene: ENSMUSG00000070319

Domain	Start	End	E-Value	Type
Pfam:eIF3g	56	175	5.5e-45	PFAM
RRM	240	313	1.49e-22	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104514

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135608

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145231

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147780

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153227

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157047

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158946

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213454

Predicted Effect

probably benign
Transcript: ENSMUST00000214331

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213882

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216133

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 95.1%
20x: 89.6%

Validation Efficiency

99% (82/83)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an evolutionarily conserved protein similar to yeast SSF1 as well as to the gene product of the Drosophila gene peter pan (ppan). SSF1 is known to be involved in the second step of mRNA splicing. Both SSF1 and ppan are essential for cell growth and proliferation. Exogenous expression of this gene was reported to reduce the anchorage-independent growth of some tumor cells. Read-through transcription of this gene with P2RY11/P2Y(11), an adjacent downstream gene that encodes an ATP receptor, has been found. These read-through transcripts are ubiquitously present and up-regulated during granulocyte differentiation. [provided by RefSeq, Nov 2010]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610528J11Rik	A	T	4: 118,386,490 (GRCm39)	M1L	probably benign	Het
5730596B20Rik	T	A	6: 52,156,182 (GRCm39)		probably benign	Het
Acrbp	T	C	6: 125,030,917 (GRCm39)		probably null	Het
Acsbg3	T	A	17: 57,192,169 (GRCm39)	Y577*	probably null	Het
Acss3	A	G	10: 106,920,732 (GRCm39)	I126T	possibly damaging	Het
Aff3	T	C	1: 38,574,650 (GRCm39)	E110G	probably damaging	Het
Aldh1a3	T	C	7: 66,059,000 (GRCm39)	I113V	probably benign	Het
Aplp2	T	C	9: 31,069,086 (GRCm39)	E525G	probably damaging	Het
Atp2b4	A	G	1: 133,657,440 (GRCm39)		probably benign	Het
Atp8a1	C	T	5: 67,970,435 (GRCm39)		probably null	Het
Bhmt	A	G	13: 93,761,972 (GRCm39)	C104R	probably damaging	Het
Cct5	T	G	15: 31,591,177 (GRCm39)	E508A	probably damaging	Het
Celsr1	T	A	15: 85,787,065 (GRCm39)	E2761D	probably benign	Het
Clstn1	T	C	4: 149,728,131 (GRCm39)	S600P	probably damaging	Het
Cnppd1	A	G	1: 75,113,573 (GRCm39)	S232P	probably damaging	Het
Crybb3	T	C	5: 113,227,619 (GRCm39)		probably null	Het
Csmd1	A	G	8: 16,273,249 (GRCm39)	I861T	probably damaging	Het
Cyp2d10	A	C	15: 82,289,540 (GRCm39)	S191A	possibly damaging	Het
Ddx10	T	C	9: 53,146,604 (GRCm39)	D206G	probably damaging	Het
Dnah1	G	T	14: 31,024,332 (GRCm39)	H916N	possibly damaging	Het
Dnah9	A	G	11: 65,802,615 (GRCm39)		probably null	Het
Epb42	G	A	2: 120,859,525 (GRCm39)		probably benign	Het
Etnppl	A	G	3: 130,423,062 (GRCm39)	R248G	probably damaging	Het
Eya3	T	C	4: 132,446,558 (GRCm39)	F369L	probably damaging	Het
Fam170b	T	C	14: 32,556,025 (GRCm39)		probably benign	Het
Fli1	A	T	9: 32,372,723 (GRCm39)	V105D	probably damaging	Het
Fmo1	T	C	1: 162,657,841 (GRCm39)	I433M	possibly damaging	Het
Fndc3b	C	A	3: 27,511,155 (GRCm39)	C785F	probably benign	Het
Foxe3	T	C	4: 114,782,765 (GRCm39)	D149G	probably damaging	Het
Gk5	T	C	9: 96,056,857 (GRCm39)		probably benign	Het
Gm14226	A	G	2: 154,867,372 (GRCm39)	D443G	possibly damaging	Het
Gm9796	C	T	11: 95,588,821 (GRCm39)		noncoding transcript	Het
Golga4	A	T	9: 118,398,061 (GRCm39)	R52S	probably benign	Het
Hey2	C	A	10: 30,710,006 (GRCm39)	C249F	probably damaging	Het
Ipo9	A	T	1: 135,348,101 (GRCm39)		probably benign	Het
Ireb2	C	A	9: 54,793,877 (GRCm39)	T269K	probably benign	Het
Kansl3	A	G	1: 36,391,050 (GRCm39)	V274A	probably damaging	Het
Kcnk2	C	T	1: 188,942,169 (GRCm39)	A352T	possibly damaging	Het
Lamc2	T	C	1: 153,006,442 (GRCm39)	E903G	probably benign	Het
Lepr	A	G	4: 101,607,541 (GRCm39)	K253R	probably benign	Het
Lmntd2	T	C	7: 140,793,536 (GRCm39)		probably benign	Het
Lrrc39	A	T	3: 116,371,952 (GRCm39)	T240S	probably benign	Het
Lrrc43	A	G	5: 123,635,085 (GRCm39)		probably null	Het
Maf	T	C	8: 116,432,495 (GRCm39)	M370V	possibly damaging	Het
Mib2	G	A	4: 155,745,673 (GRCm39)	S46L	possibly damaging	Het
Mms22l	C	T	4: 24,497,867 (GRCm39)	T63I	probably damaging	Het
Morc2a	T	A	11: 3,633,989 (GRCm39)	S700R	probably benign	Het
Mpz	A	G	1: 170,987,498 (GRCm39)		probably benign	Het
Ncam2	T	C	16: 81,420,225 (GRCm39)		probably benign	Het
Niban1	T	C	1: 151,584,957 (GRCm39)		probably null	Het
Nudt14	C	T	12: 112,902,037 (GRCm39)	A123T	probably damaging	Het
Odad3	A	G	9: 21,901,543 (GRCm39)		probably benign	Het
Or10h1	C	T	17: 33,418,298 (GRCm39)	T92I	probably benign	Het
Or2a7	G	A	6: 43,151,692 (GRCm39)	M257I	probably benign	Het
Or9g20	A	T	2: 85,629,879 (GRCm39)	I245N	possibly damaging	Het
Otoa	T	C	7: 120,710,302 (GRCm39)		probably benign	Het
Pik3cg	G	A	12: 32,254,790 (GRCm39)	T399I	probably damaging	Het
Pkn3	C	T	2: 29,973,309 (GRCm39)	A377V	probably benign	Het
Prkca	T	C	11: 107,944,937 (GRCm39)		probably benign	Het
Prrc2c	A	T	1: 162,543,033 (GRCm39)	V320E	probably damaging	Het
Ptprq	A	G	10: 107,444,278 (GRCm39)	V1442A	probably damaging	Het
Rapgef1	C	T	2: 29,616,239 (GRCm39)	R834C	probably damaging	Het
Rbms1	G	T	2: 60,672,754 (GRCm39)	N44K	probably damaging	Het
Rfwd3	A	C	8: 112,009,365 (GRCm39)	F404V	probably benign	Het
Rimbp3	G	T	16: 17,027,317 (GRCm39)	R247L	probably benign	Het
Serpinb1b	T	C	13: 33,277,696 (GRCm39)	S310P	possibly damaging	Het
Smtn	C	A	11: 3,480,235 (GRCm39)	V329L	probably damaging	Het
Snapc2	T	C	8: 4,304,979 (GRCm39)		probably benign	Het
Spam1	A	T	6: 24,800,418 (GRCm39)	M386L	probably benign	Het
Syne2	A	G	12: 76,142,387 (GRCm39)	E6208G	probably damaging	Het
Teddm1a	T	C	1: 153,768,369 (GRCm39)	Y278H	probably damaging	Het
Tnfaip6	A	T	2: 51,945,928 (GRCm39)	N258I	possibly damaging	Het
Trpm4	C	T	7: 44,971,472 (GRCm39)	R188Q	probably damaging	Het
Ttbk2	A	T	2: 120,579,441 (GRCm39)	H491Q	probably benign	Het
Urgcp	C	T	11: 5,666,989 (GRCm39)	E450K	probably benign	Het
Vmn1r228	T	C	17: 20,996,637 (GRCm39)	N294D	probably benign	Het
Wdfy3	A	T	5: 102,015,958 (GRCm39)	C2606S	probably damaging	Het
Wdr33	T	A	18: 32,021,377 (GRCm39)	H642Q	unknown	Het
Zbtb46	A	G	2: 181,053,567 (GRCm39)	S382P	possibly damaging	Het
Zfp217	A	G	2: 169,961,700 (GRCm39)	I209T	probably benign	Het
Zranb3	T	A	1: 127,891,510 (GRCm39)	N822I	probably benign	Het

Other mutations in Ppan

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01910:Ppan	APN	9	20,802,232 (GRCm39)	missense	probably damaging	1.00
IGL03162:Ppan	APN	9	20,802,608 (GRCm39)	missense	probably damaging	1.00
R1382:Ppan	UTSW	9	20,803,214 (GRCm39)	missense	probably benign	0.08
R4406:Ppan	UTSW	9	20,802,288 (GRCm39)	missense	probably damaging	1.00
R4724:Ppan	UTSW	9	20,799,806 (GRCm39)	missense	probably benign	0.04
R5217:Ppan	UTSW	9	20,802,221 (GRCm39)	missense	possibly damaging	0.46
R5275:Ppan	UTSW	9	20,801,069 (GRCm39)	nonsense	probably null
R5946:Ppan	UTSW	9	20,800,969 (GRCm39)	nonsense	probably null
R6540:Ppan	UTSW	9	20,802,506 (GRCm39)	splice site	probably null
R7131:Ppan	UTSW	9	20,802,450 (GRCm39)	missense	possibly damaging	0.94
R7227:Ppan	UTSW	9	20,799,496 (GRCm39)	unclassified	probably benign
R7419:Ppan	UTSW	9	20,803,140 (GRCm39)	missense	probably benign	0.03
R7883:Ppan	UTSW	9	20,802,777 (GRCm39)	missense	probably benign	0.24
R9179:Ppan	UTSW	9	20,803,199 (GRCm39)	missense	probably benign	0.00
R9357:Ppan	UTSW	9	20,801,220 (GRCm39)	missense	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- TGCAGCTCATTAAGATCCAGGAGGG -3'
(R):5'- TGGCGGAAATACTCAGCGTCATC -3'

Sequencing Primer
(F):5'- GGAACGGCAATGTCCTCTTC -3'
(R):5'- GAAATACTCAGCGTCATCCTCTTC -3'

Posted On

2013-04-16