Mutagenetix > Incidental Mutation

Incidental Mutation 'R3430:Mapk8ip2'

268092

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

040648-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.539) question?

Stock #

R3430 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89338114-89346650 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89341485 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 232 (E232G)

Ref Sequence

ENSEMBL: ENSMUSP00000023291 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023291] [ENSMUST00000137755]

AlphaFold

Q9ERE9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023291
AA Change: E232G

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000023291
Gene: ENSMUSG00000022619
AA Change: E232G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137755

Meta Mutation Damage Score

0.0638

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (67/67)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l2	C	A	19: 56,904,238 (GRCm39)	R683L	probably damaging	Het
Ahnak	A	G	19: 8,984,322 (GRCm39)	I1869V	probably benign	Het
Aoc1	A	T	6: 48,883,010 (GRCm39)	E295D	probably benign	Het
Arhgef19	T	C	4: 140,984,111 (GRCm39)	L777P	probably benign	Het
Atf7ip	A	G	6: 136,552,322 (GRCm39)		probably benign	Het
Bhmt	T	C	13: 93,763,855 (GRCm39)	E62G	probably damaging	Het
Bpifa6	A	G	2: 153,831,171 (GRCm39)	I246V	probably benign	Het
Btbd10	T	A	7: 112,951,016 (GRCm39)	R25*	probably null	Het
Ccdc88a	T	A	11: 29,398,033 (GRCm39)	D255E	probably damaging	Het
Chd7	T	C	4: 8,844,517 (GRCm39)	V1542A	probably damaging	Het
Cimip1	T	C	2: 173,370,066 (GRCm39)	Y114H	possibly damaging	Het
Col12a1	T	A	9: 79,587,593 (GRCm39)	T1183S	probably benign	Het
Col20a1	T	A	2: 180,655,078 (GRCm39)	L1145*	probably null	Het
Dchs1	A	G	7: 105,405,711 (GRCm39)	V2391A	possibly damaging	Het
Dgat2	A	G	7: 98,806,300 (GRCm39)	V299A	probably benign	Het
Dmxl2	T	A	9: 54,384,745 (GRCm39)	N94I	possibly damaging	Het
Dnah6	G	A	6: 73,098,797 (GRCm39)	S2034L	possibly damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Filip1	A	T	9: 79,760,952 (GRCm39)	M194K	probably damaging	Het
Fut1	T	C	7: 45,268,798 (GRCm39)	F196L	probably damaging	Het
Gm10323	A	C	13: 67,002,888 (GRCm39)	W17G	probably damaging	Het
Grin3a	C	A	4: 49,792,534 (GRCm39)	V400L	probably benign	Het
Htr3a	T	C	9: 48,818,688 (GRCm39)	N82S	probably benign	Het
Il23r	A	C	6: 67,429,458 (GRCm39)	S295A	probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lama5	T	C	2: 179,838,110 (GRCm39)	K869E	probably benign	Het
Lce1d	A	T	3: 92,593,037 (GRCm39)		probably benign	Het
Lkaaear1	T	C	2: 181,339,324 (GRCm39)	D42G	probably benign	Het
Marf1	A	G	16: 13,958,041 (GRCm39)		probably benign	Het
Mpeg1	A	T	19: 12,440,492 (GRCm39)	H650L	probably benign	Het
Nfib	T	C	4: 82,416,532 (GRCm39)	I168V	possibly damaging	Het
Or1e29	A	T	11: 73,667,365 (GRCm39)	S263T	probably damaging	Het
Or2b7	A	T	13: 21,739,975 (GRCm39)	C72*	probably null	Het
Or4c29	C	T	2: 88,739,810 (GRCm39)	R309Q	probably benign	Het
Or4e5	A	G	14: 52,727,882 (GRCm39)	F180L	possibly damaging	Het
Or8b3b	A	T	9: 38,584,435 (GRCm39)	F102I	probably damaging	Het
Otx2	T	A	14: 48,896,254 (GRCm39)	K260M	probably damaging	Het
P2ry12	C	T	3: 59,125,448 (GRCm39)	D76N	probably damaging	Het
Parp3	A	T	9: 106,351,922 (GRCm39)	I150K	probably damaging	Het
Prex2	T	G	1: 11,220,078 (GRCm39)	I683S	possibly damaging	Het
Prss34	A	T	17: 25,518,078 (GRCm39)	K86I	probably benign	Het
Ptpn20	T	A	14: 33,336,485 (GRCm39)	V108D	possibly damaging	Het
Rlf	A	G	4: 121,007,729 (GRCm39)	L417P	probably benign	Het
Rsad2	T	C	12: 26,506,418 (GRCm39)	M1V	probably null	Het
S1pr5	A	G	9: 21,156,378 (GRCm39)	V16A	probably benign	Het
Scn7a	AT	ATT	2: 66,531,239 (GRCm39)		probably null	Het
Serpinb3b	A	T	1: 107,082,425 (GRCm39)	S280T	probably benign	Het
Sh3d21	A	G	4: 126,056,625 (GRCm39)	S66P	probably benign	Het
Sh3yl1	T	C	12: 31,009,841 (GRCm39)	S253P	probably benign	Het
Smarca2	A	G	19: 26,668,749 (GRCm39)	E916G	probably damaging	Het
Sptbn1	A	G	11: 30,169,686 (GRCm39)	I14T	possibly damaging	Het
Supt16	A	T	14: 52,412,816 (GRCm39)	M559K	probably benign	Het
Tas1r2	A	G	4: 139,396,886 (GRCm39)	T742A	probably damaging	Het
Tbc1d5	T	C	17: 51,107,156 (GRCm39)	K467E	probably damaging	Het
Tet3	A	G	6: 83,380,401 (GRCm39)	V589A	probably damaging	Het
Tmem131	A	G	1: 36,847,902 (GRCm39)		probably benign	Het
Tmtc3	A	G	10: 100,283,437 (GRCm39)	F706S	probably benign	Het
Tsku	T	C	7: 98,001,746 (GRCm39)	N195S	probably damaging	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Vmn2r85	T	A	10: 130,254,758 (GRCm39)	H642L	probably damaging	Het
Zfc3h1	A	G	10: 115,246,428 (GRCm39)		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
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
R7145:Mapk8ip2	UTSW	15	89,343,201 (GRCm39)	missense	possibly damaging	0.67
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'- TCTGGAGGCAGTAACCCAAC -3'
(R):5'- ATTCGCTGTTGGTGTCATCC -3'

Sequencing Primer
(F):5'- AGTAACCCAACTCCCTGCTCTG -3'
(R):5'- ATGTGATGAGCGGCCACTG -3'

Posted On

2015-02-18