Incidental Mutation 'IGL02150:Map2k7'
ID 281943
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Map2k7
Ensembl Gene ENSMUSG00000002948
Gene Name mitogen-activated protein kinase kinase 7
Synonyms Prkmk7, sek2, MAP kinase kinase 7, 5930412N11Rik, MKK7, Jnkk2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02150
Quality Score
Status
Chromosome 8
Chromosomal Location 4288740-4297897 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4293818 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 153 (M153V)
Ref Sequence ENSEMBL: ENSMUSP00000117418 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003027] [ENSMUST00000062686] [ENSMUST00000110993] [ENSMUST00000110994] [ENSMUST00000110995] [ENSMUST00000110996] [ENSMUST00000145165] [ENSMUST00000110998] [ENSMUST00000110999] [ENSMUST00000129866]
AlphaFold Q8CE90
Predicted Effect possibly damaging
Transcript: ENSMUST00000003027
AA Change: M153V

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000003027
Gene: ENSMUSG00000002948
AA Change: M153V

DomainStartEndE-ValueType
coiled coil region 1 30 N/A INTRINSIC
low complexity region 69 89 N/A INTRINSIC
S_TKc 136 396 8.43e-72 SMART
low complexity region 435 455 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000062686
AA Change: M153V

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000054512
Gene: ENSMUSG00000002948
AA Change: M153V

DomainStartEndE-ValueType
coiled coil region 1 30 N/A INTRINSIC
low complexity region 69 89 N/A INTRINSIC
S_TKc 136 396 8.43e-72 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110993
SMART Domains Protein: ENSMUSP00000106621
Gene: ENSMUSG00000089736

DomainStartEndE-ValueType
low complexity region 5 12 N/A INTRINSIC
Pfam:Zona_pellucida 16 161 6.6e-15 PFAM
low complexity region 210 224 N/A INTRINSIC
low complexity region 227 263 N/A INTRINSIC
low complexity region 269 276 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110994
AA Change: M64V

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000106622
Gene: ENSMUSG00000002948
AA Change: M64V

DomainStartEndE-ValueType
S_TKc 47 307 8.43e-72 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110995
AA Change: M64V

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000106623
Gene: ENSMUSG00000002948
AA Change: M64V

DomainStartEndE-ValueType
S_TKc 47 307 8.43e-72 SMART
low complexity region 346 366 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110996
AA Change: M109V

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000106624
Gene: ENSMUSG00000002948
AA Change: M109V

DomainStartEndE-ValueType
low complexity region 25 45 N/A INTRINSIC
S_TKc 92 352 8.43e-72 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000145165
AA Change: M153V

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000117418
Gene: ENSMUSG00000109061
AA Change: M153V

DomainStartEndE-ValueType
coiled coil region 1 30 N/A INTRINSIC
low complexity region 69 89 N/A INTRINSIC
S_TKc 136 396 8.43e-72 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110998
AA Change: M137V

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000106626
Gene: ENSMUSG00000002948
AA Change: M137V

DomainStartEndE-ValueType
coiled coil region 1 30 N/A INTRINSIC
low complexity region 36 47 N/A INTRINSIC
low complexity region 53 73 N/A INTRINSIC
S_TKc 120 380 8.43e-72 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110999
AA Change: M137V

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000106627
Gene: ENSMUSG00000002948
AA Change: M137V

DomainStartEndE-ValueType
coiled coil region 1 30 N/A INTRINSIC
low complexity region 36 47 N/A INTRINSIC
low complexity region 53 73 N/A INTRINSIC
S_TKc 120 380 8.43e-72 SMART
low complexity region 419 439 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207247
Predicted Effect probably benign
Transcript: ENSMUST00000129866
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129537
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124750
Coding Region Coverage
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 a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase specifically activates MAPK8/JNK1 and MAPK9/JNK2, and this kinase itself is phosphorylated and activated by MAP kinase kinase kinases including MAP3K1/MEKK1, MAP3K2/MEKK2,MAP3K3/MEKK5, and MAP4K2/GCK. This kinase is involved in the signal transduction mediating the cell responses to proinflammatory cytokines, and environmental stresses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene die during embryogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankdd1a C T 9: 65,420,001 (GRCm39) G92S probably damaging Het
Arid1a A T 4: 133,414,568 (GRCm39) M1221K unknown Het
Arl10 G A 13: 54,726,662 (GRCm39) V147M probably damaging Het
Bbs4 T C 9: 59,243,651 (GRCm39) N152S probably benign Het
Cacna2d2 T G 9: 107,404,515 (GRCm39) probably benign Het
Capn9 A G 8: 125,340,582 (GRCm39) E582G probably benign Het
Cct2 A T 10: 116,898,004 (GRCm39) L61Q probably damaging Het
Clip4 A G 17: 72,106,071 (GRCm39) I85V probably damaging Het
Daam2 A T 17: 49,797,332 (GRCm39) L151Q possibly damaging Het
Dlst T A 12: 85,177,807 (GRCm39) I400N possibly damaging Het
Dock7 A T 4: 98,968,089 (GRCm39) probably benign Het
Dynlrb2 A G 8: 117,242,449 (GRCm39) N93S probably benign Het
Efl1 A G 7: 82,335,899 (GRCm39) T407A probably benign Het
Emilin1 A G 5: 31,077,517 (GRCm39) D891G possibly damaging Het
Enpp4 A C 17: 44,413,049 (GRCm39) S162A probably benign Het
Epas1 A G 17: 87,112,717 (GRCm39) D105G probably damaging Het
Fcgbpl1 T A 7: 27,846,204 (GRCm39) Y965* probably null Het
Gcn1 T A 5: 115,747,927 (GRCm39) I1778N probably damaging Het
Gm14496 A C 2: 181,633,140 (GRCm39) D41A probably damaging Het
Gm7008 T A 12: 40,273,257 (GRCm39) probably benign Het
Hcfc2 G A 10: 82,545,852 (GRCm39) S246N probably damaging Het
Hectd1 T C 12: 51,815,974 (GRCm39) N1366S probably damaging Het
Lgmn T C 12: 102,361,986 (GRCm39) R372G possibly damaging Het
Megf8 T A 7: 25,045,842 (GRCm39) probably null Het
Mgat4c A C 10: 102,224,983 (GRCm39) E399A probably benign Het
Myorg A G 4: 41,499,183 (GRCm39) V149A possibly damaging Het
Nfat5 C T 8: 108,094,584 (GRCm39) Q942* probably null Het
Notch4 A G 17: 34,803,587 (GRCm39) E1502G probably damaging Het
Optn A C 2: 5,037,963 (GRCm39) I410M probably damaging Het
Or6b9 G T 7: 106,555,763 (GRCm39) P127T probably damaging Het
Or8c17 A T 9: 38,180,564 (GRCm39) I252L possibly damaging Het
Ppp1ca G A 19: 4,244,698 (GRCm39) probably benign Het
Pramel5 C A 4: 143,999,771 (GRCm39) L105F possibly damaging Het
Rad54b T A 4: 11,610,502 (GRCm39) N706K probably damaging Het
Rgs11 A T 17: 26,421,968 (GRCm39) T6S probably benign Het
Sbf1 T C 15: 89,179,683 (GRCm39) H1308R probably benign Het
Scart2 G A 7: 139,877,772 (GRCm39) G918D possibly damaging Het
Sec31a T C 5: 100,533,984 (GRCm39) probably benign Het
Sh2d5 G A 4: 137,985,553 (GRCm39) D334N probably benign Het
Skint5 T A 4: 113,742,988 (GRCm39) I360F unknown Het
Slc12a1 G A 2: 125,026,735 (GRCm39) D457N probably damaging Het
Slco2a1 C T 9: 102,962,017 (GRCm39) A563V probably damaging Het
Snrnp35 G A 5: 124,628,471 (GRCm39) A95T probably damaging Het
Snx25 C A 8: 46,569,318 (GRCm39) R193L possibly damaging Het
Stxbp5 T G 10: 9,638,565 (GRCm39) Q1078P probably damaging Het
Tmc2 A T 2: 130,082,073 (GRCm39) I419F probably damaging Het
Tmem87a A T 2: 120,190,557 (GRCm39) W525R probably damaging Het
Trhde A T 10: 114,428,013 (GRCm39) S428T probably damaging Het
Trp73 G A 4: 154,165,943 (GRCm39) A42V possibly damaging Het
Ttn T C 2: 76,679,316 (GRCm39) probably benign Het
Ttn C T 2: 76,598,846 (GRCm39) V19356M probably damaging Het
Vmn1r170 T A 7: 23,306,465 (GRCm39) L289* probably null Het
Vwa5b2 A T 16: 20,423,576 (GRCm39) Q1163L probably benign Het
Washc2 T A 6: 116,208,593 (GRCm39) probably benign Het
Wdr70 T G 15: 8,112,030 (GRCm39) K71T possibly damaging Het
Zbtb41 T C 1: 139,368,186 (GRCm39) S625P possibly damaging Het
Zfp518b A G 5: 38,830,686 (GRCm39) S440P probably damaging Het
Zfp518b A G 5: 38,831,132 (GRCm39) V291A probably damaging Het
Zmym2 G A 14: 57,148,526 (GRCm39) probably benign Het
Other mutations in Map2k7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01997:Map2k7 APN 8 4,293,442 (GRCm39) missense probably benign 0.07
IGL02024:Map2k7 APN 8 4,297,663 (GRCm39) missense possibly damaging 0.61
IGL02086:Map2k7 APN 8 4,288,950 (GRCm39) missense probably damaging 1.00
R1583:Map2k7 UTSW 8 4,293,621 (GRCm39) critical splice donor site probably null
R1916:Map2k7 UTSW 8 4,295,795 (GRCm39) missense probably benign 0.19
R2996:Map2k7 UTSW 8 4,293,775 (GRCm39) missense probably benign 0.04
R4014:Map2k7 UTSW 8 4,297,663 (GRCm39) missense possibly damaging 0.61
R4868:Map2k7 UTSW 8 4,297,751 (GRCm39) intron probably benign
R5357:Map2k7 UTSW 8 4,294,461 (GRCm39) missense probably damaging 1.00
R5768:Map2k7 UTSW 8 4,295,757 (GRCm39) missense probably benign 0.01
R6997:Map2k7 UTSW 8 4,294,035 (GRCm39) missense possibly damaging 0.68
R7814:Map2k7 UTSW 8 4,293,744 (GRCm39) missense probably benign 0.02
R8193:Map2k7 UTSW 8 4,294,059 (GRCm39) missense probably benign 0.16
R8855:Map2k7 UTSW 8 4,293,594 (GRCm39) missense probably damaging 1.00
R9455:Map2k7 UTSW 8 4,293,957 (GRCm39) missense probably damaging 0.99
R9708:Map2k7 UTSW 8 4,295,806 (GRCm39) missense probably benign 0.33
Posted On 2015-04-16