Mutagenetix > Incidental Mutation

Incidental Mutation 'R8821:Peli2'

673070

Institutional Source

Beutler Lab

Gene Symbol

Peli2

Ensembl Gene

ENSMUSG00000021846

Gene Name

pellino 2

Synonyms

MMRRC Submission

068654-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R8821 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48120823-48281575 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 48252673 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 201 (E201K)

Ref Sequence

ENSEMBL: ENSMUSP00000072894 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073150
AA Change: E201K

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000072894
Gene: ENSMUSG00000021846
AA Change: E201K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000226828

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227362
AA Change: E150K

PolyPhen 2 Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)

Meta Mutation Damage Score

0.1079

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (74/74)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430403G16Rik	A	T	5: 109,676,308	S425R	probably benign	Het
A230072I06Rik	A	T	8: 12,279,688	I48L	unknown	Het
Abca8a	A	T	11: 110,058,536	I927K	probably damaging	Het
Abcc3	A	C	11: 94,350,961	C1415G	probably damaging	Het
Abcf3	C	T	16: 20,550,464	R205C	probably damaging	Het
Aldh3a1	A	G	11: 61,216,316	Y282C	probably damaging	Het
Alyref	CCCGCGCGGCGGCCTGCACTGCGCCGCCGCGGCCGCCCTGGGAGCCGGCCCTGCCGCG	CCCGCG	11: 120,598,197		probably null	Het
Arfgef3	A	G	10: 18,652,743	S299P	possibly damaging	Het
Asic2	A	T	11: 81,967,900	N95K	probably damaging	Het
Atp2c2	A	G	8: 119,749,294		probably null	Het
Btbd18	A	G	2: 84,667,257	D413G	probably damaging	Het
C8b	A	G	4: 104,790,677	Y355C	probably damaging	Het
Carm1	A	G	9: 21,580,367	E244G	probably damaging	Het
Catsperg1	A	T	7: 29,204,936		probably benign	Het
Cish	T	A	9: 107,300,472	F116I	probably damaging	Het
Ckmt1	G	A	2: 121,360,821		probably benign	Het
Clasrp	C	T	7: 19,586,437	R432H	unknown	Het
Clstn1	G	A	4: 149,646,323	R837Q	probably benign	Het
Col27a1	A	G	4: 63,224,911	T279A	probably benign	Het
Cox10	A	G	11: 63,964,480	F325S	probably damaging	Het
Cpne5	T	C	17: 29,211,694	I81V	probably benign	Het
Ctps	A	T	4: 120,567,310	S36T	possibly damaging	Het
Dchs2	T	C	3: 83,285,363	L1705P	probably benign	Het
Dcstamp	A	G	15: 39,754,789	H198R	probably benign	Het
Dhx58	T	A	11: 100,703,980	K30M	probably damaging	Het
Dnah1	C	T	14: 31,296,498	A1392T	probably benign	Het
Dnah14	C	A	1: 181,792,004	Y3964*	probably null	Het
Dnah8	T	C	17: 30,794,738	S3818P	probably damaging	Het
Dnmt3b	T	A	2: 153,676,814	N632K	probably benign	Het
Drc7	G	A	8: 95,062,217	R301Q	probably damaging	Het
Dsg1a	T	C	18: 20,320,308	V21A	probably damaging	Het
Dtd1	T	C	2: 144,617,341	L95P	probably benign	Het
Efhb	A	T	17: 53,400,744		probably benign	Het
Fam186b	T	A	15: 99,280,852	M198L	possibly damaging	Het
Fam193a	A	G	5: 34,459,030	T850A	probably benign	Het
Fan1	G	A	7: 64,354,501	P739L	probably damaging	Het
Flii	A	T	11: 60,725,248	N28K	probably benign	Het
Fmo3	T	C	1: 162,968,838	Y55C	probably damaging	Het
Gatsl2	T	A	5: 134,135,253	V96E	possibly damaging	Het
Gfi1	G	A	5: 107,720,272	R377C	probably damaging	Het
Gm10093	T	A	17: 78,492,540	L320Q	probably damaging	Het
Gm4450	A	T	3: 98,446,731	W151R	probably benign	Het
Gm884	A	T	11: 103,619,644	D499E	unknown	Het
Gm9195	C	T	14: 72,480,096	E266K	possibly damaging	Het
Helz	A	T	11: 107,635,093	M825L	probably damaging	Het
Ift80	G	A	3: 68,962,250	A236V	probably damaging	Het
Il1rn	A	T	2: 24,349,493	T134S	possibly damaging	Het
Imp4	T	C	1: 34,444,364	M257T	probably benign	Het
Impdh2	T	C	9: 108,564,758	L377S	probably damaging	Het
Kcnrg	T	C	14: 61,607,532	V7A	possibly damaging	Het
Kdm1b	C	A	13: 47,064,141	L359I	possibly damaging	Het
Lima1	T	A	15: 99,806,425	T288S	probably benign	Het
Lrrc4c	A	T	2: 97,629,695	D222V	possibly damaging	Het
Mybpc3	T	A	2: 91,118,179	V4E	probably null	Het
Ncor1	A	T	11: 62,369,408	D505E	probably benign	Het
Nell1	A	G	7: 50,826,349	S579G	probably damaging	Het
Npc1	T	A	18: 12,200,820	M735L	probably benign	Het
Olfr1246	A	G	2: 89,590,536	I193T	probably damaging	Het
Olfr341	G	A	2: 36,479,782	T116I	possibly damaging	Het
Olfr520	A	G	7: 99,735,686	H181R	possibly damaging	Het
Pcdhb12	A	G	18: 37,437,333	M511V	probably benign	Het
Phf3	T	A	1: 30,821,266	K828*	probably null	Het
Pih1d1	A	G	7: 45,156,772	D44G	possibly damaging	Het
Prag1	A	T	8: 36,146,737	T1148S	probably benign	Het
Ptpn18	A	T	1: 34,472,190	R338W	probably null	Het
Slc7a6os	A	T	8: 106,210,557	D90E	probably benign	Het
Sp7	T	A	15: 102,358,792	H211L	possibly damaging	Het
Ssh3	A	G	19: 4,269,025	V19A	possibly damaging	Het
Tcp11l2	A	G	10: 84,613,658	I496V	probably damaging	Het
Tenm3	C	T	8: 48,276,382	A1530T		Het
Tmem232	A	G	17: 65,436,372	L308P	probably damaging	Het
Tulp4	A	G	17: 6,139,134	N77S	probably damaging	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 116,068,172		probably benign	Het
Usp48	A	T	4: 137,613,769	D360V	probably damaging	Het
Vmn2r84	G	A	10: 130,391,099	A290V	probably benign	Het
Zfp512b	T	C	2: 181,586,732	N738S	probably benign	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
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
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'- CCCTATGTTTTAAGGAGACTCTGGAG -3'
(R):5'- CCAGAGCTTACGGGATTGTTTC -3'

Sequencing Primer
(F):5'- GGAGTCCCCCTTTTCCGGTG -3'
(R):5'- TTCTGGATCAGAAAATGGCACACTC -3'

Posted On

2021-04-30