Mutagenetix > Incidental Mutation

Incidental Mutation 'R5750:Peli2'

445981

Institutional Source

Beutler Lab

Gene Symbol

Peli2

Ensembl Gene

ENSMUSG00000021846

Gene Name

pellino 2

Synonyms

MMRRC Submission

043356-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R5750 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48358280-48519032 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 48493632 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 285 (V285L)

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: V285L

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000072894
Gene: ENSMUSG00000021846
AA Change: V285L

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

Meta Mutation Damage Score

0.5947

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agmat	G	A	4: 141,476,998 (GRCm39)	V135I	probably benign	Het
Agr3	T	C	12: 35,996,941 (GRCm39)	Y72H	probably benign	Het
Ankhd1	T	A	18: 36,757,955 (GRCm39)	M883K	probably benign	Het
Cpeb1	A	T	7: 81,086,099 (GRCm39)	D9E	probably benign	Het
Creb3l1	C	T	2: 91,816,608 (GRCm39)	V386M	possibly damaging	Het
Dnlz	C	T	2: 26,241,423 (GRCm39)	V102M	probably damaging	Het
Esp4	C	T	17: 40,913,286 (GRCm39)	T51M	probably benign	Het
Fap	C	A	2: 62,359,058 (GRCm39)	C443F	probably damaging	Het
Fbxo17	G	A	7: 28,436,897 (GRCm39)	R284H	probably damaging	Het
Fpr1	T	A	17: 18,097,525 (GRCm39)	I155F	probably benign	Het
Fshr	T	A	17: 89,293,669 (GRCm39)	L336F	probably benign	Het
Gna15	G	A	10: 81,345,230 (GRCm39)	Q212*	probably null	Het
Hk1	A	G	10: 62,110,245 (GRCm39)	F785L	possibly damaging	Het
Ints8	T	A	4: 11,241,654 (GRCm39)	Q263L	possibly damaging	Het
Itgax	T	C	7: 127,743,878 (GRCm39)	F880L	probably benign	Het
Kcnq4	A	C	4: 120,572,246 (GRCm39)	V327G	probably damaging	Het
Kdm4a	A	G	4: 117,999,396 (GRCm39)		probably benign	Het
Leng8	C	T	7: 4,145,119 (GRCm39)	S173L	probably benign	Het
Lrrc37a	C	T	11: 103,348,923 (GRCm39)	D2591N	unknown	Het
Macrod2	T	A	2: 141,357,240 (GRCm39)	S179T	probably benign	Het
Map4k2	T	A	19: 6,401,367 (GRCm39)	S612R	probably benign	Het
Mast2	A	G	4: 116,166,086 (GRCm39)		probably benign	Het
Micall2	C	T	5: 139,701,456 (GRCm39)		probably null	Het
Miga2	T	A	2: 30,261,577 (GRCm39)	W191R	probably damaging	Het
Mterf1b	T	C	5: 4,246,683 (GRCm39)	I108T	probably damaging	Het
Myh2	A	G	11: 67,082,254 (GRCm39)	I1319V	probably benign	Het
Nalcn	T	C	14: 123,809,450 (GRCm39)	E234G	probably benign	Het
Ncoa4	T	A	14: 31,899,264 (GRCm39)	C602*	probably null	Het
Ntrk2	C	A	13: 58,956,736 (GRCm39)	P65Q	probably benign	Het
Or52z15	G	A	7: 103,332,362 (GRCm39)	V136I	possibly damaging	Het
Or6c215	C	T	10: 129,637,489 (GRCm39)	V302M	probably benign	Het
P3h1	A	T	4: 119,095,863 (GRCm39)	I324F	probably damaging	Het
Qser1	A	G	2: 104,619,268 (GRCm39)	S515P	probably damaging	Het
Rnf31	C	T	14: 55,836,143 (GRCm39)	R721C	probably damaging	Het
Rps5	A	G	7: 12,659,334 (GRCm39)	K42E	probably damaging	Het
Rufy4	A	T	1: 74,172,068 (GRCm39)	T264S	probably benign	Het
Shq1	A	T	6: 100,588,775 (GRCm39)	V259D	possibly damaging	Het
Slc22a3	T	C	17: 12,652,395 (GRCm39)	I410V	probably benign	Het
Stx5a	T	C	19: 8,732,501 (GRCm39)		probably benign	Het
Syne1	G	T	10: 5,289,209 (GRCm39)	H1430Q	probably benign	Het
Tasor2	G	A	13: 3,623,642 (GRCm39)	Q1421*	probably null	Het
Tmem126b	A	C	7: 90,118,865 (GRCm39)	V141G	probably damaging	Het
Trim52	C	A	14: 106,344,932 (GRCm39)	Q197K	probably benign	Het
Tshz1	A	G	18: 84,032,086 (GRCm39)	L774P	possibly damaging	Het
Ttn	T	C	2: 76,602,031 (GRCm39)	S10217G	possibly damaging	Het
Unc45a	A	G	7: 79,984,571 (GRCm39)	V228A	probably benign	Het
Unc93a2	C	T	17: 7,637,130 (GRCm39)	V133I	probably benign	Het
Vwa2	G	T	19: 56,897,663 (GRCm39)	G656V	probably benign	Het
Xpo5	T	C	17: 46,529,556 (GRCm39)		probably null	Het
Zeb2	T	A	2: 44,887,530 (GRCm39)	Q494L	probably damaging	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
IGL02379:Peli2	APN	14	48,405,755 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GCTTACTGAGTGAAGAATGTCGG -3'
(R):5'- TTCTCTGAACAGACGTGCCC -3'

Sequencing Primer
(F):5'- TTGCCCCCATAGTTTGTAGG -3'
(R):5'- GGGTCCCGCATCGACATAAAATC -3'

Posted On

2016-11-21