Mutagenetix > Incidental Mutation

Incidental Mutation 'R7145:Mapk8ip2'

553739

Institutional Source

Beutler Lab

Gene Symbol

Mapk8ip2

Ensembl Gene

ENSMUSG00000022619

Gene Name

mitogen-activated protein kinase 8 interacting protein 2

Synonyms

JNK-interacting protein, 3230402N03Rik, Jip2, IB2

MMRRC Submission

045223-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.573) question?

Stock #

R7145 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89338114-89346650 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89343201 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 648 (F648I)

Ref Sequence

ENSEMBL: ENSMUSP00000023291 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023291]

AlphaFold

Q9ERE9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023291
AA Change: F648I

PolyPhen 2 Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000023291
Gene: ENSMUSG00000022619
AA Change: F648I

Domain	Start	End	E-Value	Type
low complexity region	26	40	N/A	INTRINSIC
low complexity region	85	104	N/A	INTRINSIC
low complexity region	176	194	N/A	INTRINSIC
low complexity region	213	227	N/A	INTRINSIC
low complexity region	236	249	N/A	INTRINSIC
low complexity region	271	295	N/A	INTRINSIC
low complexity region	300	324	N/A	INTRINSIC
low complexity region	419	437	N/A	INTRINSIC
low complexity region	472	490	N/A	INTRINSIC
low complexity region	541	555	N/A	INTRINSIC
low complexity region	589	598	N/A	INTRINSIC
SH3	613	670	2.24e-10	SMART
PTB	684	823	1.19e-38	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is closely related to MAPK8IP1/IB1/JIP-1, a scaffold protein that is involved in the c-Jun amino-terminal kinase signaling pathway. This protein is expressed in brain and pancreatic cells. It has been shown to interact with, and regulate the activity of MAPK8/JNK1, and MAP2K7/MKK7 kinases. This protein thus is thought to function as a regulator of signal transduction by protein kinase cascade in brain and pancreatic beta-cells. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for a null allele are smaller in size and exhibit male infertility. Mice homozygous for a different knock-out allele exhibit behavioral and cerebellar transmission deficits. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,775,820 (GRCm39)	Y1670H	probably damaging	Het
Abca12	T	C	1: 71,346,212 (GRCm39)	K886R	possibly damaging	Het
Adcy3	G	A	12: 4,250,992 (GRCm39)	E584K	probably benign	Het
Ano3	A	T	2: 110,693,205 (GRCm39)	V131D	probably benign	Het
Arhgdig	C	T	17: 26,418,337 (GRCm39)	W215*	probably null	Het
Cad	G	T	5: 31,224,956 (GRCm39)	W953L	possibly damaging	Het
Calhm2	T	C	19: 47,124,080 (GRCm39)	Y88C	probably benign	Het
Cdk5rap2	A	T	4: 70,156,468 (GRCm39)	D1681E	probably benign	Het
Cenpl	T	A	1: 160,910,482 (GRCm39)	L143H	possibly damaging	Het
Cherp	T	C	8: 73,222,230 (GRCm39)	K270E		Het
Cmss1	A	G	16: 57,131,718 (GRCm39)	I136T	probably benign	Het
Col23a1	T	C	11: 51,456,050 (GRCm39)		probably null	Het
Crnn	C	A	3: 93,055,689 (GRCm39)	D158E	probably damaging	Het
Dnmt3a	A	T	12: 3,922,844 (GRCm39)	Q149L	probably benign	Het
Dst	T	A	1: 34,228,963 (GRCm39)	N2185K	probably benign	Het
Eif1ad18	G	T	12: 88,050,597 (GRCm39)	C44F	probably benign	Het
Elp2	T	A	18: 24,737,126 (GRCm39)	N25K	probably benign	Het
Ephb4	A	T	5: 137,370,308 (GRCm39)	D845V	probably damaging	Het
Esyt3	T	C	9: 99,201,627 (GRCm39)	T561A	probably damaging	Het
F3	G	T	3: 121,525,235 (GRCm39)	V159L	probably damaging	Het
Fam81a	A	T	9: 70,017,560 (GRCm39)	D128E	probably damaging	Het
Flot1	T	G	17: 36,135,835 (GRCm39)	H155Q	probably benign	Het
Fut9	T	A	4: 25,620,507 (GRCm39)	K102N	probably damaging	Het
Gm6309	T	C	5: 146,107,100 (GRCm39)	Q82R	possibly damaging	Het
H13	A	G	2: 152,522,992 (GRCm39)	N102D	probably damaging	Het
Lamc2	C	G	1: 153,006,518 (GRCm39)	A878P	possibly damaging	Het
Lepr	C	T	4: 101,609,394 (GRCm39)	T327I	probably benign	Het
Lrp2	A	G	2: 69,285,152 (GRCm39)		probably null	Het
Ly86	A	G	13: 37,560,986 (GRCm39)	K116E	probably damaging	Het
Muc16	G	A	9: 18,566,876 (GRCm39)	T1881I	unknown	Het
Myh13	T	G	11: 67,245,566 (GRCm39)	S1069A	probably benign	Het
Myh4	T	A	11: 67,151,054 (GRCm39)	I1903N	possibly damaging	Het
Myo18b	A	T	5: 112,965,545 (GRCm39)	L1341*	probably null	Het
Naa25	G	T	5: 121,555,552 (GRCm39)		probably null	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Ncapg	C	T	5: 45,827,372 (GRCm39)	A3V	possibly damaging	Het
Ncln	T	C	10: 81,324,086 (GRCm39)	H481R	probably benign	Het
Nek4	C	A	14: 30,704,305 (GRCm39)	Q607K	probably damaging	Het
Neo1	T	C	9: 58,796,462 (GRCm39)	Y1182C	probably damaging	Het
Npnt	T	C	3: 132,615,692 (GRCm39)	N165S	probably benign	Het
Or2l5	C	G	16: 19,333,649 (GRCm39)	V246L	probably damaging	Het
Or4p22	C	T	2: 88,317,721 (GRCm39)	S215L	probably damaging	Het
Or8b8	A	G	9: 37,808,859 (GRCm39)	H53R	probably benign	Het
Or8k30	T	C	2: 86,338,872 (GRCm39)	L23P	probably damaging	Het
Otulin	T	C	15: 27,608,856 (GRCm39)	Y229C	probably damaging	Het
Palld	A	T	8: 61,985,051 (GRCm39)	D1071E	unknown	Het
Pcdhb20	T	C	18: 37,638,142 (GRCm39)	S223P	probably damaging	Het
Pcdhga6	T	A	18: 37,840,781 (GRCm39)	I167N	probably damaging	Het
Pcdhgb4	A	G	18: 37,854,843 (GRCm39)	N413D	probably benign	Het
Pcdhgb8	T	A	18: 37,896,050 (GRCm39)	Y373*	probably null	Het
Plxna2	G	T	1: 194,331,830 (GRCm39)	V419L	probably benign	Het
Rpgrip1l	A	T	8: 91,959,434 (GRCm39)		probably null	Het
Rsrc2	A	G	5: 123,877,630 (GRCm39)		probably benign	Het
Scaper	C	T	9: 55,819,395 (GRCm39)	D107N	unknown	Het
Scgb2b3	T	A	7: 31,059,573 (GRCm39)	Y67F	probably benign	Het
Scn5a	G	A	9: 119,315,437 (GRCm39)	T1757I	probably damaging	Het
Sgo2b	G	A	8: 64,381,218 (GRCm39)	P538L	probably damaging	Het
Slc9a3	A	G	13: 74,298,797 (GRCm39)	K72R	probably damaging	Het
Smchd1	T	A	17: 71,685,202 (GRCm39)	T1409S	probably benign	Het
Stab1	A	T	14: 30,867,030 (GRCm39)		probably null	Het
Sult2b1	T	C	7: 45,383,056 (GRCm39)	E242G	probably damaging	Het
Tcaf1	A	T	6: 42,663,687 (GRCm39)	H64Q	probably damaging	Het
Tle6	T	C	10: 81,435,910 (GRCm39)	T2A	possibly damaging	Het
Tmem115	T	C	9: 107,412,285 (GRCm39)	V203A	probably benign	Het
Tmem45b	G	A	9: 31,340,337 (GRCm39)	T108I	probably damaging	Het
Tmf1	A	T	6: 97,153,079 (GRCm39)	D331E	probably damaging	Het
Txndc9	T	C	1: 38,029,377 (GRCm39)	Y157C	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r27	C	A	6: 124,168,711 (GRCm39)	R806S	probably benign	Het
Vmn2r59	G	A	7: 41,695,188 (GRCm39)	A408V	probably damaging	Het
Ythdc1	T	C	5: 86,964,467 (GRCm39)	V92A	probably benign	Het

Other mutations in Mapk8ip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01942:Mapk8ip2	APN	15	89,341,220 (GRCm39)	critical splice donor site	probably null
IGL02720:Mapk8ip2	APN	15	89,341,785 (GRCm39)	missense	probably damaging	1.00
IGL02741:Mapk8ip2	APN	15	89,341,700 (GRCm39)	missense	probably damaging	1.00
IGL03027:Mapk8ip2	APN	15	89,342,310 (GRCm39)	missense	probably damaging	1.00
PIT4520001:Mapk8ip2	UTSW	15	89,344,900 (GRCm39)	missense	probably damaging	1.00
R0504:Mapk8ip2	UTSW	15	89,340,861 (GRCm39)	missense	possibly damaging	0.62
R2355:Mapk8ip2	UTSW	15	89,343,168 (GRCm39)	missense	probably benign	0.04
R3026:Mapk8ip2	UTSW	15	89,345,649 (GRCm39)	missense	probably damaging	1.00
R3430:Mapk8ip2	UTSW	15	89,341,485 (GRCm39)	missense	possibly damaging	0.86
R4275:Mapk8ip2	UTSW	15	89,343,198 (GRCm39)	missense	probably damaging	1.00
R4789:Mapk8ip2	UTSW	15	89,343,241 (GRCm39)	missense	probably damaging	1.00
R4953:Mapk8ip2	UTSW	15	89,341,431 (GRCm39)	missense	probably benign
R5209:Mapk8ip2	UTSW	15	89,343,490 (GRCm39)	missense	probably damaging	1.00
R5417:Mapk8ip2	UTSW	15	89,341,642 (GRCm39)	missense	probably benign	0.16
R5521:Mapk8ip2	UTSW	15	89,343,007 (GRCm39)	missense	probably damaging	1.00
R6860:Mapk8ip2	UTSW	15	89,344,655 (GRCm39)	missense	probably damaging	1.00
R7231:Mapk8ip2	UTSW	15	89,342,279 (GRCm39)	missense	probably benign
R7369:Mapk8ip2	UTSW	15	89,338,454 (GRCm39)	missense	probably benign	0.01
R7753:Mapk8ip2	UTSW	15	89,345,856 (GRCm39)	missense	probably damaging	1.00
R7827:Mapk8ip2	UTSW	15	89,342,322 (GRCm39)	missense	probably damaging	0.98
R7834:Mapk8ip2	UTSW	15	89,345,576 (GRCm39)	missense	probably damaging	1.00
R8387:Mapk8ip2	UTSW	15	89,344,897 (GRCm39)	missense	probably damaging	1.00
R8433:Mapk8ip2	UTSW	15	89,342,069 (GRCm39)	missense	probably benign	0.01
R8528:Mapk8ip2	UTSW	15	89,339,422 (GRCm39)	missense	probably damaging	1.00
R9061:Mapk8ip2	UTSW	15	89,342,016 (GRCm39)	missense	possibly damaging	0.76
R9301:Mapk8ip2	UTSW	15	89,341,886 (GRCm39)	missense	probably damaging	1.00
R9768:Mapk8ip2	UTSW	15	89,343,160 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACTCTCTTGGCCAAGATGAC -3'
(R):5'- TGCACATCGAAGCGATCCAC -3'

Sequencing Primer
(F):5'- TTGGCCAAGATGACCCTTAG -3'
(R):5'- TCGAAGCGATCCACCCAGC -3'

Posted On

2019-05-15