Mutagenetix > Incidental Mutation

Incidental Mutation 'R5481:Peli2'

434349

Institutional Source

Beutler Lab

Gene Symbol

Peli2

Ensembl Gene

ENSMUSG00000021846

Gene Name

pellino 2

Synonyms

MMRRC Submission

043042-MU

Accession Numbers

Essential gene?

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

Stock #

R5481 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48120823-48281575 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 48252633 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 136 (N136K)

Ref Sequence

ENSEMBL: ENSMUSP00000154661 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000073150
AA Change: N187K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000072894
Gene: ENSMUSG00000021846
AA Change: N187K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000226828

Predicted Effect

probably damaging
Transcript: ENSMUST00000227362
AA Change: N136K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228519

Coding Region Coverage

1x: 99.1%
3x: 97.6%
10x: 95.1%
20x: 90.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	A	G	4: 109,505,562	S187P	probably damaging	Het
Aass	C	A	6: 23,113,476	V282L	probably benign	Het
Adh6a	G	T	3: 138,325,958	V204F	probably damaging	Het
Aspm	A	G	1: 139,457,061	K148E	possibly damaging	Het
Atp12a	A	T	14: 56,373,389	D330V	possibly damaging	Het
Barhl1	A	G	2: 28,915,340	Y114H	probably damaging	Het
BC106179	T	A	16: 23,224,168		probably benign	Het
Cabin1	A	G	10: 75,735,066	L792P	probably benign	Het
Calcoco2	A	G	11: 96,107,543	V18A	probably damaging	Het
Chpf2	A	T	5: 24,589,342	H170L	probably damaging	Het
Chrna1	T	A	2: 73,566,926	I340F	possibly damaging	Het
Ckap5	A	T	2: 91,572,447	I690F	possibly damaging	Het
Col10a1	A	G	10: 34,395,664	H544R	probably benign	Het
Cyp2b19	A	C	7: 26,766,821	T350P	probably damaging	Het
Dgkq	A	G	5: 108,648,810		probably null	Het
Dnah1	A	G	14: 31,308,871	V443A	possibly damaging	Het
Erbb3	T	C	10: 128,572,480	D855G	probably damaging	Het
Fam3c	T	C	6: 22,321,358	D138G	probably benign	Het
Fen1	A	G	19: 10,200,658	C141R	probably damaging	Het
Flnc	G	A	6: 29,441,217	G390D	probably damaging	Het
Fnip1	C	A	11: 54,502,644	D635E	probably benign	Het
Fry	A	T	5: 150,260,319	L17F	probably benign	Het
Fsip2	T	C	2: 82,979,886	I2183T	probably benign	Het
Gfpt1	T	A	6: 87,050,969	I19N	probably damaging	Het
Gm9774	A	G	3: 92,429,351	S15P	possibly damaging	Het
Hus1b	T	C	13: 30,946,959	D239G	probably benign	Het
Kif1a	T	C	1: 93,060,244	K546R	probably benign	Het
Kmt2d	A	G	15: 98,862,005	V1124A	unknown	Het
Krtap16-1	A	G	11: 99,985,327	I417T	probably damaging	Het
Manba	A	T	3: 135,524,556	N297Y	possibly damaging	Het
Mblac1	A	G	5: 138,194,816	D140G	probably damaging	Het
Mlh1	T	C	9: 111,229,837		probably null	Het
Morc1	T	A	16: 48,561,485		probably null	Het
Morc3	C	A	16: 93,862,655	P449Q	probably damaging	Het
Mtr	T	C	13: 12,188,155		probably null	Het
Mylk	T	A	16: 34,921,604	C829S	probably benign	Het
Myo1d	A	G	11: 80,663,095	I520T	possibly damaging	Het
Ncam2	C	T	16: 81,434,878	R77*	probably null	Het
Nos1	A	T	5: 117,867,754	I180F	probably benign	Het
Ntsr1	C	T	2: 180,541,520	T341M	possibly damaging	Het
Olfr916	A	T	9: 38,657,620	F257L	probably benign	Het
P2rx7	A	G	5: 122,680,820	D435G	possibly damaging	Het
Pigt	C	A	2: 164,506,422	P429H	probably damaging	Het
Pik3r2	T	C	8: 70,769,764	I515V	probably benign	Het
Pkhd1l1	A	G	15: 44,558,646	Y3104C	probably damaging	Het
Ppp1r16a	A	C	15: 76,691,021	E43A	probably damaging	Het
Ptpn18	T	C	1: 34,471,663	L260P	possibly damaging	Het
Scaf11	A	T	15: 96,420,617	S355R	probably damaging	Het
Sema4a	A	T	3: 88,453,040	Y77*	probably null	Het
Serpinb9b	T	C	13: 33,038,093	V230A	possibly damaging	Het
Sfswap	T	A	5: 129,514,818	S300T	probably damaging	Het
Slc22a30	T	C	19: 8,336,837	N495S	probably benign	Het
Srcap	G	A	7: 127,532,197	G836D	probably damaging	Het
Stard4	A	C	18: 33,205,245	C137W	probably benign	Het
Stat6	A	G	10: 127,647,826		probably null	Het
Steap3	T	C	1: 120,241,724	D243G	probably benign	Het
Taf1c	A	G	8: 119,599,240	S628P	probably damaging	Het
Unkl	C	T	17: 25,201,172	Q13*	probably null	Het
Usp38	A	G	8: 80,993,323	S426P	possibly damaging	Het
Vmn2r8	T	C	5: 108,801,770	T404A	probably benign	Het
Washc1	T	C	17: 66,118,865	V425A	probably benign	Het
Zfyve9	A	G	4: 108,644,349	I590T	probably damaging	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
IGL01810:Peli2	APN	14	48256034	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- CACCTTGGCTGTGTACGAAG -3'
(R):5'- GCCATCGTGAAACATCTGTGAG -3'

Sequencing Primer
(F):5'- CCTTCCAAGTGCTGAGATTAAAGGC -3'
(R):5'- CATCTGTGAGAATTTTCCAGAGCG -3'

Posted On

2016-10-06