Mutagenetix > Incidental Mutation

Incidental Mutation 'R2355:Mapk8ip2'

246898

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

040337-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.573) question?

Stock #

R2355 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89338114-89346650 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 89343168 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 637 (V637L)

Ref Sequence

ENSEMBL: ENSMUSP00000023291 (fasta)

Gene Model

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

AlphaFold

Q9ERE9

Predicted Effect

probably benign
Transcript: ENSMUST00000023291
AA Change: V637L

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000023291
Gene: ENSMUSG00000022619
AA Change: V637L

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.5%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	CGG	CG	5: 124,215,368 (GRCm39)		probably null	Het
Ahcyl1	A	G	3: 107,577,533 (GRCm39)	S296P	probably damaging	Het
Alas1	A	G	9: 106,113,673 (GRCm39)	V524A	probably damaging	Het
Amn	C	A	12: 111,238,246 (GRCm39)	D53E	probably damaging	Het
Bbof1	A	G	12: 84,470,223 (GRCm39)	E33G	probably damaging	Het
Ccdc149	T	C	5: 52,578,114 (GRCm39)	E106G	probably damaging	Het
Ceacam5	T	A	7: 17,479,560 (GRCm39)	S226T	probably damaging	Het
Chd7	G	T	4: 8,801,350 (GRCm39)	S698I	possibly damaging	Het
Chst2	A	G	9: 95,288,148 (GRCm39)	L66P	probably damaging	Het
Cps1	C	T	1: 67,195,383 (GRCm39)	P268L	probably damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cyp3a59	A	T	5: 146,036,622 (GRCm39)	M275L	probably benign	Het
Ddx41	T	G	13: 55,682,113 (GRCm39)	M232L	probably benign	Het
Dnah6	C	A	6: 73,133,404 (GRCm39)	A1068S	possibly damaging	Het
Dnah7a	T	C	1: 53,621,661 (GRCm39)	I1155V	probably benign	Het
Dop1b	G	A	16: 93,567,565 (GRCm39)	V611I	probably damaging	Het
Epyc	A	G	10: 97,512,875 (GRCm39)	Y243C	probably damaging	Het
Fam171a1	C	T	2: 3,226,570 (GRCm39)	Q568*	probably null	Het
Gm5930	A	G	14: 44,573,918 (GRCm39)	S105P	probably damaging	Het
Golga4	A	G	9: 118,389,810 (GRCm39)	D2032G	probably benign	Het
Gps2	AGTGCT	A	11: 69,806,207 (GRCm39)		probably null	Het
H2-DMb1	A	G	17: 34,376,289 (GRCm39)	Y136C	probably damaging	Het
Il12b	A	G	11: 44,301,039 (GRCm39)	E185G	probably benign	Het
Kat7	A	C	11: 95,182,407 (GRCm39)	I231R	probably benign	Het
Kcmf1	A	T	6: 72,827,466 (GRCm39)	I58N	probably damaging	Het
Lmf2	A	T	15: 89,235,966 (GRCm39)	V646E	possibly damaging	Het
Lmo7	A	G	14: 102,126,121 (GRCm39)	Q409R	probably damaging	Het
Lmod1	T	A	1: 135,292,253 (GRCm39)	H369Q	probably benign	Het
M1ap	G	A	6: 82,933,484 (GRCm39)	A13T	probably benign	Het
Mettl25	C	A	10: 105,599,316 (GRCm39)	V570L	probably benign	Het
Mfsd1	T	A	3: 67,508,668 (GRCm39)	N449K	probably damaging	Het
Or56a5	A	T	7: 104,793,020 (GRCm39)	M166K	probably benign	Het
Or5b24	T	C	19: 12,912,383 (GRCm39)	S94P	possibly damaging	Het
Or5d18	T	A	2: 87,865,379 (GRCm39)	I35F	probably damaging	Het
Or6c209	G	A	10: 129,483,711 (GRCm39)	C238Y	probably benign	Het
Pcdhb5	T	A	18: 37,455,169 (GRCm39)	S516R	probably benign	Het
Plppr3	C	T	10: 79,701,194 (GRCm39)	M549I	possibly damaging	Het
Ppl	A	G	16: 4,912,361 (GRCm39)	V740A	probably benign	Het
Rabgef1	C	T	5: 130,240,928 (GRCm39)	T349M	probably benign	Het
Rad51ap2	T	C	12: 11,507,109 (GRCm39)	C344R	probably benign	Het
Shank2	A	G	7: 143,611,455 (GRCm39)	Q172R	possibly damaging	Het
Smg9	G	A	7: 24,119,546 (GRCm39)		probably null	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Trim42	A	T	9: 97,241,293 (GRCm39)	N646K	probably damaging	Het
Usp32	T	C	11: 84,896,735 (GRCm39)	I1181V	probably benign	Het
Vwa5b1	C	A	4: 138,319,221 (GRCm39)		probably null	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
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
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'- AGGCACTGAGTCCTTTGGTC -3'
(R):5'- ACACAGTCTGAGGTTGATATAGGGG -3'

Sequencing Primer
(F):5'- CCTGTGTGGTGAATGGGGAG -3'
(R):5'- GGAAGTCTGTGGTGGCAAGC -3'

Posted On

2014-10-30