Incidental Mutation 'R5357:Map2k7'
ID 434548
Institutional Source Beutler Lab
Gene Symbol Map2k7
Ensembl Gene ENSMUSG00000002948
Gene Name mitogen-activated protein kinase kinase 7
Synonyms Prkmk7, sek2, MAP kinase kinase 7, 5930412N11Rik, MKK7, Jnkk2
MMRRC Submission 042936-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5357 (G1)
Quality Score 211
Status Not validated
Chromosome 8
Chromosomal Location 4288740-4297897 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 4294461 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 253 (H253L)
Ref Sequence ENSEMBL: ENSMUSP00000117418 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003027] [ENSMUST00000062686] [ENSMUST00000110993] [ENSMUST00000110994] [ENSMUST00000110995] [ENSMUST00000110996] [ENSMUST00000129866] [ENSMUST00000145165] [ENSMUST00000110999] [ENSMUST00000110998]
AlphaFold Q8CE90
Predicted Effect probably damaging
Transcript: ENSMUST00000003027
AA Change: H253L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003027
Gene: ENSMUSG00000002948
AA Change: H253L

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 probably damaging
Transcript: ENSMUST00000062686
AA Change: H253L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054512
Gene: ENSMUSG00000002948
AA Change: H253L

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 damaging
Transcript: ENSMUST00000110994
AA Change: H164L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106622
Gene: ENSMUSG00000002948
AA Change: H164L

DomainStartEndE-ValueType
S_TKc 47 307 8.43e-72 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110995
AA Change: H164L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106623
Gene: ENSMUSG00000002948
AA Change: H164L

DomainStartEndE-ValueType
S_TKc 47 307 8.43e-72 SMART
low complexity region 346 366 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110996
AA Change: H209L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106624
Gene: ENSMUSG00000002948
AA Change: H209L

DomainStartEndE-ValueType
low complexity region 25 45 N/A INTRINSIC
S_TKc 92 352 8.43e-72 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000129866
AA Change: H2L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000145165
AA Change: H253L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117418
Gene: ENSMUSG00000109061
AA Change: H253L

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 damaging
Transcript: ENSMUST00000110999
AA Change: H237L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106627
Gene: ENSMUSG00000002948
AA Change: H237L

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 probably damaging
Transcript: ENSMUST00000110998
AA Change: H237L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106626
Gene: ENSMUSG00000002948
AA Change: H237L

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 noncoding transcript
Transcript: ENSMUST00000207247
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124750
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129537
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209051
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.4%
  • 10x: 94.5%
  • 20x: 87.7%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik T C 4: 137,182,463 (GRCm39) V206A possibly damaging Het
5730522E02Rik A T 11: 25,598,148 (GRCm39) C102* probably null Het
Brsk2 C A 7: 141,538,248 (GRCm39) D131E possibly damaging Het
Cacng7 T C 7: 3,387,452 (GRCm39) F112L probably benign Het
Ceacam12 T A 7: 17,811,384 (GRCm39) C282* probably null Het
Dnm1 T C 2: 32,226,253 (GRCm39) D312G probably null Het
Dyrk1b T C 7: 27,884,743 (GRCm39) V326A possibly damaging Het
Eloa T C 4: 135,736,559 (GRCm39) D563G probably benign Het
Evi5l A G 8: 4,253,623 (GRCm39) K489R possibly damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Galntl6 T C 8: 58,337,497 (GRCm39) E326G probably damaging Het
Gm1758 G A 16: 14,320,218 (GRCm39) noncoding transcript Het
Grm8 A T 6: 27,762,418 (GRCm39) L269Q probably damaging Het
Hsd17b12 A G 2: 93,863,990 (GRCm39) I284T possibly damaging Het
Hyal6 T A 6: 24,734,517 (GRCm39) M150K probably benign Het
Ift80 T A 3: 68,898,113 (GRCm39) Q74L possibly damaging Het
Krt76 T C 15: 101,795,820 (GRCm39) K450R probably benign Het
Larp1b A G 3: 40,978,950 (GRCm39) E2G probably benign Het
Ltbr G A 6: 125,289,757 (GRCm39) R146W probably damaging Het
Melk C T 4: 44,363,730 (GRCm39) T592M probably damaging Het
Mmp2 A G 8: 93,559,780 (GRCm39) T248A possibly damaging Het
Mt1 T A 8: 94,906,732 (GRCm39) C33S probably damaging Het
Obox5 T A 7: 15,491,463 (GRCm39) M1K probably null Het
Pak4 A G 7: 28,263,831 (GRCm39) S302P probably damaging Het
Pcsk2 T C 2: 143,415,384 (GRCm39) Y66H probably benign Het
Pgm3 G A 9: 86,438,310 (GRCm39) R451* probably null Het
Phf10 A T 17: 15,174,275 (GRCm39) probably null Het
Pkd1 T G 17: 24,784,764 (GRCm39) V402G probably damaging Het
Plekha4 G T 7: 45,184,195 (GRCm39) V61F probably damaging Het
Ppfia2 G A 10: 106,740,708 (GRCm39) probably null Het
R3hdm4 C T 10: 79,748,292 (GRCm39) E162K possibly damaging Het
Skil A G 3: 31,167,700 (GRCm39) H444R probably benign Het
Tcn2 T G 11: 3,876,017 (GRCm39) D137A possibly damaging Het
Tnks2 G A 19: 36,826,690 (GRCm39) silent Het
Trh T A 6: 92,219,815 (GRCm39) D167V probably benign Het
Tshz1 C T 18: 84,033,205 (GRCm39) G401D probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ubqlnl T A 7: 103,798,138 (GRCm39) Q453L probably damaging Het
Vmn2r111 T A 17: 22,767,083 (GRCm39) K805* probably null Het
Wnt16 T G 6: 22,291,231 (GRCm39) probably benign Het
Zc3h11a A T 1: 133,550,780 (GRCm39) V665E probably damaging Het
Zfp456 A T 13: 67,520,328 (GRCm39) M63K possibly damaging Het
Zzef1 C T 11: 72,734,159 (GRCm39) Q584* probably null 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
IGL02150:Map2k7 APN 8 4,293,818 (GRCm39) missense possibly damaging 0.49
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
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
Predicted Primers PCR Primer
(F):5'- ACGTCTTTATTGCCATGGAGC -3'
(R):5'- CATAGTCAGGCTTGGTGGGATC -3'

Sequencing Primer
(F):5'- CTGAAGAAACGAATGCAGGGCC -3'
(R):5'- ATCTGGAGGGTCGATGCGC -3'
Posted On 2016-10-06