Incidental Mutation 'R8846:Mapk10'
ID 674702
Institutional Source Beutler Lab
Gene Symbol Mapk10
Ensembl Gene ENSMUSG00000046709
Gene Name mitogen-activated protein kinase 10
Synonyms p493F12, C230008H04Rik, JNK3, Serk2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8846 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 103056413-103359200 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103144521 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 129 (F129L)
Ref Sequence ENSEMBL: ENSMUSP00000108469 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086854] [ENSMUST00000112846] [ENSMUST00000112847] [ENSMUST00000112848] [ENSMUST00000128869] [ENSMUST00000133069] [ENSMUST00000141573] [ENSMUST00000170792]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000086854
AA Change: F99L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000084065
Gene: ENSMUSG00000046709
AA Change: F99L

DomainStartEndE-ValueType
S_TKc 64 359 5.76e-88 SMART
low complexity region 423 432 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112846
AA Change: F99L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108467
Gene: ENSMUSG00000046709
AA Change: F99L

DomainStartEndE-ValueType
S_TKc 64 359 4.37e-88 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112847
AA Change: F99L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108468
Gene: ENSMUSG00000046709
AA Change: F99L

DomainStartEndE-ValueType
S_TKc 64 359 4.37e-88 SMART
low complexity region 423 432 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112848
AA Change: F129L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108469
Gene: ENSMUSG00000046709
AA Change: F129L

DomainStartEndE-ValueType
S_TKc 94 389 4.37e-88 SMART
low complexity region 453 462 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000128869
AA Change: F25L

PolyPhen 2 Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000143448
Gene: ENSMUSG00000046709
AA Change: F25L

DomainStartEndE-ValueType
S_TKc 4 178 7.4e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000133069
AA Change: F99L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143609
Gene: ENSMUSG00000046709
AA Change: F99L

DomainStartEndE-ValueType
S_TKc 64 252 1.4e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000141573
AA Change: F99L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142798
Gene: ENSMUSG00000046709
AA Change: F99L

DomainStartEndE-ValueType
Pfam:Pkinase 64 125 1.3e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000170792
AA Change: F99L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127193
Gene: ENSMUSG00000046709
AA Change: F99L

DomainStartEndE-ValueType
S_TKc 64 359 4.37e-88 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.7%
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as integration points for multiple biochemical signals and are involved in a wide variety of cellular processes, such as proliferation, differentiation, transcription regulation and development. This kinase is specifically expressed in a subset of neurons in the nervous system and is activated by threonine and tyrosine phosphorylation. Targeted deletion of this gene in mice suggests that it may have a role in stress-induced neuronal apoptosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study provided evidence for translational readthrough in this gene and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. They are resistant to kainic acid induced seizures and show increased resistance to MPTP induced Parkinson's disease. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T A 6: 142,551,610 (GRCm39) I1198F possibly damaging Het
Adgrv1 C T 13: 81,637,025 (GRCm39) probably null Het
Adprh T C 16: 38,267,775 (GRCm39) H170R probably damaging Het
Arhgef10 T C 8: 15,025,956 (GRCm39) V820A probably benign Het
B3galt1 A G 2: 67,948,717 (GRCm39) D144G probably benign Het
Ccdc88a C T 11: 29,414,185 (GRCm39) R908C probably damaging Het
Ccs A G 19: 4,883,480 (GRCm39) L106P probably damaging Het
Dock10 T C 1: 80,545,786 (GRCm39) D820G possibly damaging Het
Gda A G 19: 21,389,889 (GRCm39) I298T probably damaging Het
Gpr84 A T 15: 103,218,037 (GRCm39) H13Q possibly damaging Het
Igdcc4 T C 9: 65,037,898 (GRCm39) S760P probably benign Het
Ighv1-53 A C 12: 115,122,165 (GRCm39) I70S probably damaging Het
Itpr3 T A 17: 27,330,996 (GRCm39) I1768N probably damaging Het
Kctd13 C A 7: 126,544,191 (GRCm39) D296E probably benign Het
Krt76 A G 15: 101,795,772 (GRCm39) I466T probably damaging Het
Lamb1 T C 12: 31,379,388 (GRCm39) Y1801H possibly damaging Het
Myo5b G A 18: 74,841,043 (GRCm39) E975K probably benign Het
Nrtn C T 17: 57,058,728 (GRCm39) R91H possibly damaging Het
Olfml2a A T 2: 38,850,255 (GRCm39) Y657F probably damaging Het
Or1j21 T A 2: 36,683,689 (GRCm39) V147E probably benign Het
Or4d10c T C 19: 12,065,433 (GRCm39) H241R probably damaging Het
Pfkfb2 T C 1: 130,625,648 (GRCm39) T511A probably benign Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Pkhd1l1 G T 15: 44,410,358 (GRCm39) G2622* probably null Het
Ppp6r3 A T 19: 3,564,654 (GRCm39) D206E probably damaging Het
Ptpn3 A G 4: 57,205,020 (GRCm39) Y714H probably damaging Het
Rfng C A 11: 120,674,972 (GRCm39) R6L unknown Het
Scrt1 A T 15: 76,405,808 (GRCm39) V33E possibly damaging Het
Siglecg A T 7: 43,061,942 (GRCm39) I563F probably benign Het
Slc1a6 G A 10: 78,637,781 (GRCm39) A436T probably damaging Het
Slc38a9 C A 13: 112,859,814 (GRCm39) S416* probably null Het
Sptbn1 A G 11: 30,075,009 (GRCm39) S1288P possibly damaging Het
Tbce A G 13: 14,194,285 (GRCm39) probably null Het
Tdpoz8 A T 3: 92,981,770 (GRCm39) I189F possibly damaging Het
Topors A G 4: 40,262,952 (GRCm39) F111L probably damaging Het
Vmn1r11 T C 6: 57,114,807 (GRCm39) M157T probably benign Het
Wdfy4 A G 14: 32,867,105 (GRCm39) L459P Het
Zfp738 T C 13: 67,818,155 (GRCm39) N612S probably benign Het
Other mutations in Mapk10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01480:Mapk10 APN 5 103,074,018 (GRCm39) splice site probably benign
IGL01791:Mapk10 APN 5 103,144,514 (GRCm39) missense probably damaging 1.00
IGL01885:Mapk10 APN 5 103,144,455 (GRCm39) missense probably damaging 1.00
IGL02192:Mapk10 APN 5 103,137,513 (GRCm39) missense probably damaging 0.97
IGL02260:Mapk10 APN 5 103,186,534 (GRCm39) missense probably benign 0.09
IGL02409:Mapk10 APN 5 103,076,096 (GRCm39) missense possibly damaging 0.50
IGL03148:Mapk10 APN 5 103,073,971 (GRCm39) missense probably damaging 1.00
R0904:Mapk10 UTSW 5 103,135,146 (GRCm39) splice site probably benign
R1067:Mapk10 UTSW 5 103,139,723 (GRCm39) splice site probably benign
R1592:Mapk10 UTSW 5 103,186,487 (GRCm39) missense possibly damaging 0.89
R1812:Mapk10 UTSW 5 103,061,128 (GRCm39) missense probably damaging 1.00
R2364:Mapk10 UTSW 5 103,186,507 (GRCm39) missense possibly damaging 0.81
R2866:Mapk10 UTSW 5 103,186,548 (GRCm39) missense probably benign 0.25
R2867:Mapk10 UTSW 5 103,186,548 (GRCm39) missense probably benign 0.25
R2867:Mapk10 UTSW 5 103,186,548 (GRCm39) missense probably benign 0.25
R4622:Mapk10 UTSW 5 103,137,590 (GRCm39) missense probably damaging 1.00
R4860:Mapk10 UTSW 5 103,138,485 (GRCm39) missense probably damaging 1.00
R4860:Mapk10 UTSW 5 103,138,485 (GRCm39) missense probably damaging 1.00
R4866:Mapk10 UTSW 5 103,111,391 (GRCm39) missense probably damaging 1.00
R5901:Mapk10 UTSW 5 103,061,158 (GRCm39) missense probably damaging 1.00
R5986:Mapk10 UTSW 5 103,186,446 (GRCm39) missense probably benign 0.33
R6000:Mapk10 UTSW 5 103,114,342 (GRCm39) missense probably damaging 1.00
R6000:Mapk10 UTSW 5 103,114,341 (GRCm39) missense probably damaging 1.00
R7375:Mapk10 UTSW 5 103,124,256 (GRCm39) missense probably null 0.26
R7460:Mapk10 UTSW 5 103,186,443 (GRCm39) missense probably benign 0.37
R7753:Mapk10 UTSW 5 103,186,419 (GRCm39) nonsense probably null
R7879:Mapk10 UTSW 5 103,111,362 (GRCm39) missense probably benign 0.10
R7935:Mapk10 UTSW 5 103,139,792 (GRCm39) missense possibly damaging 0.92
R8059:Mapk10 UTSW 5 103,114,478 (GRCm39) missense probably damaging 1.00
R9030:Mapk10 UTSW 5 103,144,499 (GRCm39) missense probably damaging 1.00
R9043:Mapk10 UTSW 5 103,074,025 (GRCm39) splice site probably benign
R9106:Mapk10 UTSW 5 103,186,442 (GRCm39) missense probably damaging 1.00
R9115:Mapk10 UTSW 5 103,186,532 (GRCm39) missense
R9398:Mapk10 UTSW 5 103,061,152 (GRCm39) missense probably damaging 1.00
R9620:Mapk10 UTSW 5 103,114,473 (GRCm39) missense probably damaging 1.00
R9796:Mapk10 UTSW 5 103,135,101 (GRCm39) missense possibly damaging 0.93
Z1176:Mapk10 UTSW 5 103,139,753 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TGGGGACAGTAAAACCAAATTCAGC -3'
(R):5'- AGCTGTACCCTGGCAATGTC -3'

Sequencing Primer
(F):5'- GTAAAACCAAATTCAGCACATGAG -3'
(R):5'- CCTGGCAATGTCCCACC -3'
Posted On 2021-07-15