Incidental Mutation 'R9625:H2-K2'
ID 725115
Institutional Source Beutler Lab
Gene Symbol H2-K2
Ensembl Gene ENSMUSG00000067203
Gene Name histocompatibility 2, K region locus 2
Synonyms H2-K1, H-2K2, H-2K1K, H-2K1
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R9625 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 34194050-34197764 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 34218975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 23 (P23S)
Ref Sequence ENSEMBL: ENSMUSP00000025181 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025181] [ENSMUST00000087189] [ENSMUST00000172912] [ENSMUST00000173075]
AlphaFold no structure available at present
PDB Structure MURINE CD8AA ECTODOMAIN FRAGMENT IN COMPLEX WITH H-2KB/VSV8 [X-RAY DIFFRACTION]
MURINE ALLOREACTIVE SCFV TCR-PEPTIDE-MHC CLASS I MOLECULE COMPLEX [X-RAY DIFFRACTION]
MHC CLASS I NATURAL MUTANT H-2KBM1 HEAVY CHAIN COMPLEXED WITH BETA-2 MICROGLOBULIN AND VESICULAR STOMATITIS VIRUS NUCLEOPROTEIN [X-RAY DIFFRACTION]
MHC CLASS I NATURAL MUTANT H-2KBM1 HEAVY CHAIN COMPLEXED WITH BETA-2 MICROGLOBULIN AND SENDAI VIRUS NUCLEOPROTEIN [X-RAY DIFFRACTION]
MHC CLASS I NATURAL MUTANT H-2KBM8 HEAVY CHAIN COMPLEXED WITH BETA-2 MICROGLOBULIN AND VESICULAR STOMATITIS VIRUS NUCLEOPROTEIN [X-RAY DIFFRACTION]
MHC CLASS I NATURAL MUTANT H-2KBM8 HEAVY CHAIN COMPLEXED WITH BETA-2 MICROGLOBULIN AND SENDAI VIRUS NUCLEOPROTEIN [X-RAY DIFFRACTION]
A FUNCTIONAL HOT SPOT FOR ANTIGEN RECOGNITION IN A SUPERAGONIST TCR/MHC COMPLEX [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF MHC CLASS I H-2KB HEAVY CHAIN COMPLEXED WITH BETA-2 MICROGLOBULIN AND YEAST ALPHA-GLUCOSIDASE [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF MHC CLASS I H-2KB HEAVY CHAIN COMPLEXED WITH BETA-2 MICROGLOBULIN AND MUC1 VNTR PEPTIDE SAPDTRPA [X-RAY DIFFRACTION]
MHC Class I H-2KB Presented Glycopeptide RGY8-6H-GAL2 [X-RAY DIFFRACTION]
>> 62 additional structures at PDB <<
Predicted Effect probably benign
Transcript: ENSMUST00000025181
AA Change: P23S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000025181
Gene: ENSMUSG00000061232
AA Change: P23S

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:MHC_I 22 200 1.4e-95 PFAM
IGc1 219 290 9.98e-22 SMART
transmembrane domain 306 328 N/A INTRINSIC
Pfam:MHC_I_C 335 359 2.3e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000087189
SMART Domains Protein: ENSMUSP00000084436
Gene: ENSMUSG00000061232

DomainStartEndE-ValueType
low complexity region 6 15 N/A INTRINSIC
IGc1 37 108 9.98e-22 SMART
low complexity region 124 143 N/A INTRINSIC
Pfam:MHC_I_C 152 177 5.9e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172912
AA Change: P23S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000134004
Gene: ENSMUSG00000061232
AA Change: P23S

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:MHC_I 22 200 6.7e-97 PFAM
IGc1 219 290 9.98e-22 SMART
transmembrane domain 306 328 N/A INTRINSIC
Pfam:MHC_I_C 334 359 9.3e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173075
AA Change: P43S

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000133847
Gene: ENSMUSG00000061232
AA Change: P43S

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:MHC_I 42 220 3.7e-97 PFAM
Pfam:C1-set 229 289 4.2e-12 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432M17Rik A G 3: 121,465,033 (GRCm39) E23G unknown Het
Abhd5 A G 9: 122,208,606 (GRCm39) Y332C probably damaging Het
Adcyap1r1 A T 6: 55,457,055 (GRCm39) E262V probably damaging Het
Adgre5 A G 8: 84,450,658 (GRCm39) Y793H probably damaging Het
Arhgef33 A T 17: 80,654,707 (GRCm39) Y78F possibly damaging Het
Asl G A 5: 130,047,693 (GRCm39) A91V probably damaging Het
Cd40 A T 2: 164,905,061 (GRCm39) I126F probably benign Het
Ceacam10 A G 7: 24,476,705 (GRCm39) E2G probably damaging Het
Cfap46 C T 7: 139,230,805 (GRCm39) R941H Het
Cntnap3 A T 13: 65,006,579 (GRCm39) S78T probably damaging Het
Cntnap4 T C 8: 113,602,181 (GRCm39) V1195A possibly damaging Het
Cthrc1 T C 15: 38,947,874 (GRCm39) S198P probably damaging Het
Dcaf7 T G 11: 105,942,794 (GRCm39) probably null Het
Dhx16 A G 17: 36,193,413 (GRCm39) E252G probably benign Het
Efcab2 C T 1: 178,302,505 (GRCm39) T83I possibly damaging Het
Efhc1 A G 1: 21,049,738 (GRCm39) N533D probably benign Het
Emilin2 A G 17: 71,581,112 (GRCm39) V538A probably benign Het
Fam171b A T 2: 83,683,914 (GRCm39) T144S probably damaging Het
Fam98a A G 17: 75,845,474 (GRCm39) F424S unknown Het
Gm3573 T C 14: 42,011,605 (GRCm39) R42G possibly damaging Het
Gpr143 GTTTTTT GTTTTTTT X: 151,578,627 (GRCm39) probably null Het
Hormad2 G A 11: 4,377,372 (GRCm39) P22L probably damaging Het
Hoxb1 C T 11: 96,256,810 (GRCm39) A53V probably benign Het
Kalrn T A 16: 33,849,197 (GRCm39) probably null Het
Kdm2a C T 19: 4,393,141 (GRCm39) D405N Het
Kif1a C T 1: 93,000,766 (GRCm39) E287K probably benign Het
Lrrk1 A T 7: 65,909,666 (GRCm39) *2015K probably null Het
Ltbp1 G T 17: 75,486,157 (GRCm39) G61C probably damaging Het
Mthfd2l A G 5: 91,107,567 (GRCm39) H143R probably damaging Het
Myo1d C A 11: 80,448,296 (GRCm39) G943V possibly damaging Het
Ncoa1 T A 12: 4,345,643 (GRCm39) Q568L probably damaging Het
Ncoa3 G A 2: 165,899,130 (GRCm39) S824N probably benign Het
Nfe2l3 A T 6: 51,434,925 (GRCm39) D495V probably damaging Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nlrp14 A G 7: 106,782,169 (GRCm39) I455M probably benign Het
Npb T C 11: 120,499,375 (GRCm39) L14P probably damaging Het
Or51f1 C T 7: 102,505,636 (GRCm39) M284I probably benign Het
P2ry12 G A 3: 59,125,496 (GRCm39) R60C possibly damaging Het
Pcdhb17 T A 18: 37,619,419 (GRCm39) L403* probably null Het
Phb2 G A 6: 124,690,974 (GRCm39) R44H probably damaging Het
Plekha5 A T 6: 140,372,253 (GRCm39) T68S probably benign Het
Ptprg C T 14: 12,152,027 (GRCm38) R447W probably damaging Het
Ptprk T C 10: 28,462,006 (GRCm39) Y1190H probably damaging Het
Ptpro G T 6: 137,371,873 (GRCm39) C630F probably damaging Het
Rrp15 G T 1: 186,453,718 (GRCm39) P243Q possibly damaging Het
Smurf1 A G 5: 144,830,920 (GRCm39) F285S possibly damaging Het
Spata13 C T 14: 60,944,349 (GRCm39) P581S probably benign Het
Tex44 T C 1: 86,354,253 (GRCm39) I54T unknown Het
Tom1l2 A G 11: 60,161,277 (GRCm39) V78A probably damaging Het
Vps11 A G 9: 44,265,738 (GRCm39) W514R probably damaging Het
Wnk2 C A 13: 49,254,445 (GRCm39) V357L probably benign Het
Zfp970 C T 2: 177,167,790 (GRCm39) Q455* probably null Het
Other mutations in H2-K2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02189:H2-K2 APN 17 34,218,466 (GRCm39) missense probably damaging 1.00
FR4548:H2-K2 UTSW 17 34,216,016 (GRCm39) unclassified probably benign
FR4976:H2-K2 UTSW 17 34,216,016 (GRCm39) unclassified probably benign
R0254:H2-K2 UTSW 17 34,215,639 (GRCm39) unclassified probably benign
R0520:H2-K2 UTSW 17 34,216,390 (GRCm39) missense probably damaging 1.00
R0540:H2-K2 UTSW 17 34,218,474 (GRCm39) missense probably damaging 1.00
R0607:H2-K2 UTSW 17 34,218,474 (GRCm39) missense probably damaging 1.00
R0718:H2-K2 UTSW 17 34,194,597 (GRCm39) splice site noncoding transcript
R1282:H2-K2 UTSW 17 34,218,421 (GRCm39) missense probably damaging 1.00
R1785:H2-K2 UTSW 17 34,216,322 (GRCm39) nonsense probably null
R2307:H2-K2 UTSW 17 34,216,113 (GRCm39) missense probably benign 0.26
R3791:H2-K2 UTSW 17 34,218,499 (GRCm39) missense probably benign 0.02
R3847:H2-K2 UTSW 17 34,216,303 (GRCm39) missense probably damaging 1.00
R4008:H2-K2 UTSW 17 34,218,525 (GRCm39) splice site probably benign
R4324:H2-K2 UTSW 17 34,219,014 (GRCm39) missense possibly damaging 0.76
R4470:H2-K2 UTSW 17 34,219,035 (GRCm39) missense probably benign 0.20
R4543:H2-K2 UTSW 17 34,218,532 (GRCm39) splice site probably null
R4647:H2-K2 UTSW 17 34,194,989 (GRCm39) splice site noncoding transcript
R4648:H2-K2 UTSW 17 34,194,989 (GRCm39) splice site noncoding transcript
R4858:H2-K2 UTSW 17 34,216,298 (GRCm39) missense probably benign 0.05
R4921:H2-K2 UTSW 17 34,216,050 (GRCm39) missense possibly damaging 0.65
R5254:H2-K2 UTSW 17 34,216,436 (GRCm39) missense probably damaging 1.00
R5269:H2-K2 UTSW 17 34,215,989 (GRCm39) unclassified probably benign
R6058:H2-K2 UTSW 17 34,218,305 (GRCm39) missense probably benign
R6058:H2-K2 UTSW 17 34,218,304 (GRCm39) missense probably benign 0.02
R7941:H2-K2 UTSW 17 34,218,305 (GRCm39) missense probably benign
R8057:H2-K2 UTSW 17 34,215,833 (GRCm39) missense possibly damaging 0.63
R8938:H2-K2 UTSW 17 34,216,294 (GRCm39) missense probably damaging 1.00
R9355:H2-K2 UTSW 17 34,216,120 (GRCm39) missense probably benign 0.01
Predicted Primers
Posted On 2022-09-12