Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02379:Peli2'

291304

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: 0.082) question?

Stock #

IGL02379

Quality Score

Status

Chromosome

Chromosomal Location

48358280-48519032 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48405755 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 60 (H60R)

Ref Sequence

ENSEMBL: ENSMUSP00000154335 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073150] [ENSMUST00000226513] [ENSMUST00000226828] [ENSMUST00000227362]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000073150
AA Change: H60R

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000072894
Gene: ENSMUSG00000021846
AA Change: H60R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226260

Predicted Effect

probably damaging
Transcript: ENSMUST00000226513
AA Change: H60R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000226828

Predicted Effect

probably damaging
Transcript: ENSMUST00000227362
AA Change: H9R

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228456

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	T	A	5: 121,760,106 (GRCm39)	I996F	probably damaging	Het
Adamts9	T	A	6: 92,774,014 (GRCm39)	D1133V	probably damaging	Het
Adi1	T	A	12: 28,729,466 (GRCm39)	D106E	probably damaging	Het
Agl	A	G	3: 116,572,740 (GRCm39)	F837S	probably damaging	Het
Alb	T	A	5: 90,613,738 (GRCm39)	D207E	probably benign	Het
Alms1	T	G	6: 85,606,615 (GRCm39)	V2286G	probably damaging	Het
Alpl	G	A	4: 137,469,869 (GRCm39)	A485V	probably damaging	Het
Antxrl	C	A	14: 33,778,492 (GRCm39)		probably null	Het
Apc	C	T	18: 34,431,798 (GRCm39)	T417I	probably benign	Het
Ash2l	T	C	8: 26,312,799 (GRCm39)	D390G	probably damaging	Het
Asph	G	A	4: 9,474,980 (GRCm39)	P582S	probably damaging	Het
Bcr	T	A	10: 74,992,980 (GRCm39)	L825Q	probably benign	Het
Bhlha15	T	A	5: 144,128,159 (GRCm39)	N90K	probably damaging	Het
Cgnl1	T	A	9: 71,552,835 (GRCm39)	Y1043F	possibly damaging	Het
Chek1	T	C	9: 36,635,242 (GRCm39)	D47G	probably benign	Het
Clca4b	T	A	3: 144,627,619 (GRCm39)	M451L	probably benign	Het
Csnk1g3	T	C	18: 54,066,564 (GRCm39)	S346P	probably benign	Het
Cspg4	G	T	9: 56,799,893 (GRCm39)		probably benign	Het
Ctr9	A	G	7: 110,650,726 (GRCm39)	K884E	probably damaging	Het
Cyld	T	A	8: 89,471,556 (GRCm39)	C813*	probably null	Het
Fn3k	A	T	11: 121,325,950 (GRCm39)	T46S	probably benign	Het
Foxred1	T	C	9: 35,121,282 (GRCm39)	R89G	probably benign	Het
Gpr174	T	C	X: 106,337,084 (GRCm39)	F299L	probably damaging	Het
Hdac7	T	C	15: 97,706,266 (GRCm39)	D312G	probably damaging	Het
Il36b	A	G	2: 24,044,650 (GRCm39)	S17G	probably benign	Het
Kcna5	G	T	6: 126,511,472 (GRCm39)	P219T	probably damaging	Het
Kcnh2	A	C	5: 24,531,636 (GRCm39)	V425G	probably damaging	Het
Klk1b5	A	G	7: 43,500,246 (GRCm39)	N278S	probably damaging	Het
Mars2	T	A	1: 55,277,212 (GRCm39)	W272R	probably damaging	Het
Msl3l2	C	A	10: 55,992,017 (GRCm39)	S247R	possibly damaging	Het
Myh7	T	C	14: 55,216,925 (GRCm39)	E1144G	probably damaging	Het
Nefm	T	C	14: 68,357,688 (GRCm39)		probably benign	Het
Nwd2	A	G	5: 63,962,644 (GRCm39)	K743E	probably damaging	Het
Nyap2	C	T	1: 81,065,147 (GRCm39)	T53I	probably damaging	Het
Odad4	A	T	11: 100,457,809 (GRCm39)	N471Y	possibly damaging	Het
Or10ag58	T	C	2: 87,265,668 (GRCm39)	V279A	probably benign	Het
Or52z12	T	C	7: 103,234,099 (GRCm39)	V290A	possibly damaging	Het
Pias2	T	A	18: 77,232,844 (GRCm39)		probably benign	Het
Pik3c2b	A	G	1: 133,022,529 (GRCm39)	D1157G	probably damaging	Het
Pip4k2a	C	T	2: 18,870,922 (GRCm39)		probably null	Het
Raf1	A	T	6: 115,621,509 (GRCm39)	D23E	probably benign	Het
Rhox10	G	A	X: 37,155,733 (GRCm39)	R87H	probably benign	Het
Rpgrip1	A	G	14: 52,376,345 (GRCm39)	T449A	possibly damaging	Het
Serpina3a	T	A	12: 104,084,919 (GRCm39)	S105T	probably benign	Het
Slc12a9	T	G	5: 137,319,691 (GRCm39)	Q608P	probably damaging	Het
Smg6	C	A	11: 74,944,751 (GRCm39)	P167T	probably damaging	Het
Spata7	C	T	12: 98,600,519 (GRCm39)	T44I	probably damaging	Het
Spink12	C	T	18: 44,239,575 (GRCm39)		probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Stag2	C	T	X: 41,339,474 (GRCm39)	T754I	probably benign	Het
Supt6	C	T	11: 78,116,195 (GRCm39)	V723M	possibly damaging	Het
Ubr3	A	G	2: 69,778,832 (GRCm39)	D614G	possibly damaging	Het
Vps39	T	A	2: 120,154,089 (GRCm39)	K624N	probably benign	Het
Vwa5b1	A	T	4: 138,340,170 (GRCm39)	L29Q	probably damaging	Het
Wtap	G	A	17: 13,188,336 (GRCm39)	A188V	probably benign	Het
Zc3hc1	A	G	6: 30,390,974 (GRCm39)	F5L	probably benign	Het
Zfp655	C	T	5: 145,180,765 (GRCm39)	P208S	probably benign	Het
Zswim3	A	T	2: 164,662,602 (GRCm39)		probably null	Het

Other mutations in Peli2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01012:Peli2	APN	14	48,490,187 (GRCm39)	nonsense	probably null
IGL01466:Peli2	APN	14	48,493,914 (GRCm39)	missense	probably damaging	1.00
IGL01810:Peli2	APN	14	48,493,491 (GRCm39)	missense	probably benign	0.00
IGL02870:Peli2	APN	14	48,493,722 (GRCm39)	missense	probably damaging	1.00
IGL02959:Peli2	APN	14	48,477,754 (GRCm39)	missense	probably benign	0.35
IGL03328:Peli2	APN	14	48,490,032 (GRCm39)	critical splice acceptor site	probably null
PIT4378001:Peli2	UTSW	14	48,405,726 (GRCm39)	nonsense	probably null
R0046:Peli2	UTSW	14	48,358,659 (GRCm39)	missense	possibly damaging	0.88
R1545:Peli2	UTSW	14	48,490,174 (GRCm39)	missense	probably benign	0.32
R2027:Peli2	UTSW	14	48,493,602 (GRCm39)	missense	probably benign	0.25
R2437:Peli2	UTSW	14	48,465,389 (GRCm39)	intron	probably benign
R5481:Peli2	UTSW	14	48,490,090 (GRCm39)	missense	probably damaging	1.00
R5750:Peli2	UTSW	14	48,493,632 (GRCm39)	missense	possibly damaging	0.95
R5831:Peli2	UTSW	14	48,405,727 (GRCm39)	missense	probably damaging	0.99
R6154:Peli2	UTSW	14	48,488,051 (GRCm39)	nonsense	probably null
R6445:Peli2	UTSW	14	48,493,905 (GRCm39)	missense	possibly damaging	0.48
R6712:Peli2	UTSW	14	48,488,051 (GRCm39)	missense	probably benign	0.30
R7469:Peli2	UTSW	14	48,488,015 (GRCm39)	missense	probably benign
R7685:Peli2	UTSW	14	48,517,491 (GRCm39)	missense	not run
R8817:Peli2	UTSW	14	48,490,130 (GRCm39)	missense	possibly damaging	0.46
R8819:Peli2	UTSW	14	48,490,130 (GRCm39)	missense	possibly damaging	0.46
R8820:Peli2	UTSW	14	48,490,130 (GRCm39)	missense	possibly damaging	0.46
R8821:Peli2	UTSW	14	48,490,130 (GRCm39)	missense	possibly damaging	0.46
R8853:Peli2	UTSW	14	48,493,945 (GRCm39)	missense	probably damaging	1.00
R9177:Peli2	UTSW	14	48,518,927 (GRCm39)	missense	probably benign	0.01
R9268:Peli2	UTSW	14	48,518,927 (GRCm39)	missense	probably benign	0.01
R9521:Peli2	UTSW	14	48,490,052 (GRCm39)	missense	probably benign	0.06
R9553:Peli2	UTSW	14	48,488,150 (GRCm39)	missense	probably damaging	1.00
R9595:Peli2	UTSW	14	48,493,846 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16