Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01810:Peli2'

155804

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Peli2

Ensembl Gene

ENSMUSG00000021846

Gene Name

pellino 2

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

IGL01810

Quality Score

Status

Chromosome

Chromosomal Location

48120823-48281575 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 48256034 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 238 (V238I)

Ref Sequence

ENSEMBL: ENSMUSP00000072894 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073150] [ENSMUST00000226828] [ENSMUST00000227362]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000073150
AA Change: V238I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000072894
Gene: ENSMUSG00000021846
AA Change: V238I

Domain	Start	End	E-Value	Type
Pfam:Pellino	10	419	1.2e-223	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000226828

Predicted Effect

probably benign
Transcript: ENSMUST00000227362

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228519

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	G	T	11: 101,417,359	Y10*	probably null	Het
Aass	C	A	6: 23,107,634	Q383H	probably damaging	Het
Bag1	T	C	4: 40,936,657	D333G	probably damaging	Het
Cap2	A	G	13: 46,639,949		probably benign	Het
Col27a1	G	T	4: 63,225,631	A519S	probably benign	Het
Cr2	A	G	1: 195,159,595	V726A	possibly damaging	Het
Csmd2	A	G	4: 128,480,845		probably benign	Het
Dennd4c	A	G	4: 86,799,551	D595G	possibly damaging	Het
Ercc2	G	T	7: 19,393,449	R340L	probably damaging	Het
Espl1	A	G	15: 102,298,205	T35A	probably benign	Het
Fndc3a	A	G	14: 72,566,141	Y525H	probably benign	Het
Gm4922	T	C	10: 18,784,047	Q309R	probably benign	Het
Gm5263	T	C	1: 146,420,554		noncoding transcript	Het
Gm6563	A	C	19: 23,676,387	R180S	probably damaging	Het
Gpr182	C	A	10: 127,750,864	V73F	probably damaging	Het
Gramd1b	C	T	9: 40,315,773	R179H	probably damaging	Het
Hk1	C	T	10: 62,353,105	A10T	probably benign	Het
Hmgn3	C	A	9: 83,110,384		probably benign	Het
Il1b	C	T	2: 129,369,729	E24K	probably damaging	Het
Itgb6	G	T	2: 60,627,985	Q475K	probably benign	Het
Lrrc74b	A	G	16: 17,545,558	S368P	probably benign	Het
Mfsd2b	T	C	12: 4,866,469	T234A	possibly damaging	Het
Muc6	A	T	7: 141,651,062	Y270N	probably damaging	Het
Naip6	A	G	13: 100,288,095		probably benign	Het
Olfr142	A	T	2: 90,252,132	Y285*	probably null	Het
Pear1	G	A	3: 87,752,301	T742I	probably damaging	Het
Pira2	A	G	7: 3,844,612	L26P	probably damaging	Het
Pot1b	A	G	17: 55,662,521	V549A	possibly damaging	Het
Prdm16	T	C	4: 154,347,927	Y295C	probably benign	Het
Ptprd	A	T	4: 76,140,507		probably benign	Het
Rap1gap	A	T	4: 137,716,155	M145L	probably benign	Het
Setd7	A	T	3: 51,532,967		probably benign	Het
Ssx2ip	T	C	3: 146,428,010	I258T	probably benign	Het
Stard9	T	C	2: 120,699,084	Y1941H	possibly damaging	Het
Stxbp3	T	C	3: 108,800,152	E420G	probably benign	Het
Tpra1	T	C	6: 88,909,342	V101A	probably damaging	Het
Tpx2	G	T	2: 152,884,235	Q373H	probably damaging	Het
Ttn	C	T	2: 76,727,008	R29914Q	probably damaging	Het
Ubr3	T	C	2: 70,003,465		probably null	Het
Usp18	G	A	6: 121,253,771	G53D	probably damaging	Het
Vps13c	A	T	9: 67,955,780	H3026L	probably benign	Het
Zan	T	C	5: 137,463,626	E1097G	unknown	Het

Other mutations in Peli2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01012:Peli2	APN	14	48252730	nonsense	probably null
IGL01466:Peli2	APN	14	48256457	missense	probably damaging	1.00
IGL02379:Peli2	APN	14	48168298	missense	probably damaging	1.00
IGL02870:Peli2	APN	14	48256265	missense	probably damaging	1.00
IGL02959:Peli2	APN	14	48240297	missense	probably benign	0.35
IGL03328:Peli2	APN	14	48252575	critical splice acceptor site	probably null
PIT4378001:Peli2	UTSW	14	48168269	nonsense	probably null
R0046:Peli2	UTSW	14	48121202	missense	possibly damaging	0.88
R1545:Peli2	UTSW	14	48252717	missense	probably benign	0.32
R2027:Peli2	UTSW	14	48256145	missense	probably benign	0.25
R2437:Peli2	UTSW	14	48227932	intron	probably benign
R5481:Peli2	UTSW	14	48252633	missense	probably damaging	1.00
R5750:Peli2	UTSW	14	48256175	missense	possibly damaging	0.95
R5831:Peli2	UTSW	14	48168270	missense	probably damaging	0.99
R6154:Peli2	UTSW	14	48250594	nonsense	probably null
R6445:Peli2	UTSW	14	48256448	missense	possibly damaging	0.48
R6712:Peli2	UTSW	14	48250594	missense	probably benign	0.30
R7469:Peli2	UTSW	14	48250558	missense	probably benign
R7685:Peli2	UTSW	14	48280034	missense	not run
R8817:Peli2	UTSW	14	48252673	missense	possibly damaging	0.46
R8819:Peli2	UTSW	14	48252673	missense	possibly damaging	0.46
R8820:Peli2	UTSW	14	48252673	missense	possibly damaging	0.46
R8821:Peli2	UTSW	14	48252673	missense	possibly damaging	0.46
R8853:Peli2	UTSW	14	48256488	missense	probably damaging	1.00
R9177:Peli2	UTSW	14	48281470	missense	probably benign	0.01
R9268:Peli2	UTSW	14	48281470	missense	probably benign	0.01
R9521:Peli2	UTSW	14	48252595	missense	probably benign	0.06
R9553:Peli2	UTSW	14	48250693	missense	probably damaging	1.00
R9595:Peli2	UTSW	14	48256389	missense	probably damaging	1.00

Posted On

2014-02-04