Incidental Mutation 'R4684:H2-T5'
ID 353565
Institutional Source Beutler Lab
Gene Symbol H2-T5
Ensembl Gene
Gene Name histocompatibility 2, T region locus 5
Synonyms Gm8909, H2-T26, H-2T5
Accession Numbers
Essential gene? Not available question?
Stock # R4684 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 36475335-36479429 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 36476750 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 241 (H241Q)
Ref Sequence ENSEMBL: ENSMUSP00000133663 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040467] [ENSMUST00000097335] [ENSMUST00000173353]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000040467
AA Change: H213Q

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000036092
Gene: ENSMUSG00000073402
AA Change: H213Q

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:MHC_I 26 204 5.9e-96 PFAM
IGc1 223 294 8.23e-23 SMART
transmembrane domain 310 332 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000056774
Predicted Effect noncoding transcript
Transcript: ENSMUST00000090537
SMART Domains Protein: ENSMUSP00000088025
Gene: ENSMUSG00000038311

DomainStartEndE-ValueType
SCOP:d2sqca2 105 173 2e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000097335
AA Change: H241Q

PolyPhen 2 Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000094947
Gene: ENSMUSG00000073402
AA Change: H241Q

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:MHC_I 54 232 7.3e-96 PFAM
IGc1 251 322 8.23e-23 SMART
transmembrane domain 338 360 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173025
SMART Domains Protein: ENSMUSP00000133655
Gene: ENSMUSG00000038311

DomainStartEndE-ValueType
SCOP:d2sqca2 148 216 2e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000173353
AA Change: H241Q

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133663
Gene: ENSMUSG00000073402
AA Change: H241Q

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:MHC_I 54 232 3.9e-93 PFAM
IGc1 251 322 8.23e-23 SMART
transmembrane domain 338 360 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173625
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174693
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174345
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173648
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310039H08Rik T C 17: 47,083,872 (GRCm39) V45A probably benign Het
4921509C19Rik A G 2: 151,313,791 (GRCm39) I629T unknown Het
4933402N03Rik T C 7: 130,740,413 (GRCm39) R268G probably damaging Het
Abca13 A T 11: 9,384,193 (GRCm39) R3882* probably null Het
Adamts3 T G 5: 89,850,866 (GRCm39) T558P probably damaging Het
Ano2 A G 6: 125,767,304 (GRCm39) N214S probably benign Het
Arhgef4 A T 1: 34,850,866 (GRCm39) probably null Het
Boc C T 16: 44,320,743 (GRCm39) A306T probably benign Het
Capn10 T C 1: 92,871,503 (GRCm39) F367S probably damaging Het
Ccdc6 T C 10: 70,025,086 (GRCm39) probably benign Het
Cobll1 G T 2: 64,929,372 (GRCm39) S688R possibly damaging Het
Cpxm2 G T 7: 131,650,767 (GRCm39) P631Q possibly damaging Het
Cyp2c68 A G 19: 39,687,779 (GRCm39) V406A possibly damaging Het
Cyp4a30b T A 4: 115,312,200 (GRCm39) Y118N probably damaging Het
Dgki A T 6: 37,276,781 (GRCm39) probably benign Het
Disp2 A G 2: 118,623,237 (GRCm39) N1323S probably damaging Het
Dock1 T A 7: 134,326,138 (GRCm39) Y42* probably null Het
Eps8l1 C A 7: 4,476,944 (GRCm39) P471Q probably damaging Het
Fam20a A C 11: 109,612,513 (GRCm39) L10R unknown Het
Fpr-rs4 T A 17: 18,242,446 (GRCm39) I151K probably damaging Het
Gga1 C A 15: 78,769,509 (GRCm39) P161T probably damaging Het
Gm9923 T A 10: 72,145,306 (GRCm39) Y52* probably null Het
Gucy2g A G 19: 55,194,688 (GRCm39) F910L probably damaging Het
Helz T C 11: 107,539,971 (GRCm39) V315A probably damaging Het
Hk2 T C 6: 82,716,629 (GRCm39) Y301C probably damaging Het
Htt C T 5: 35,010,109 (GRCm39) P1521S probably damaging Het
Iah1 T C 12: 21,366,434 (GRCm39) M1T probably null Het
Ik T C 18: 36,885,467 (GRCm39) S287P probably damaging Het
Itga1 T A 13: 115,185,906 (GRCm39) D32V probably damaging Het
Itpr2 A G 6: 146,274,671 (GRCm39) F837S probably damaging Het
Klk14 A G 7: 43,341,392 (GRCm39) I15V probably benign Het
Kng2 T C 16: 22,806,391 (GRCm39) I603V possibly damaging Het
Lama1 T C 17: 68,080,773 (GRCm39) I1267T possibly damaging Het
Lrp1b A C 2: 40,812,316 (GRCm39) L2430V probably benign Het
Lrrn3 T G 12: 41,504,243 (GRCm39) K25Q possibly damaging Het
Lta4h T A 10: 93,304,678 (GRCm39) N233K probably benign Het
Mapk13 T C 17: 28,989,023 (GRCm39) I53T probably damaging Het
Mdn1 T C 4: 32,666,430 (GRCm39) F123L probably damaging Het
Myh4 G C 11: 67,136,637 (GRCm39) D472H probably damaging Het
Nipa2 A T 7: 55,585,574 (GRCm39) N121K probably benign Het
Nostrin C T 2: 69,014,268 (GRCm39) T408M probably benign Het
Oosp2 C T 19: 11,627,017 (GRCm39) R102H probably damaging Het
Or1j18 A G 2: 36,624,686 (GRCm39) M118V probably damaging Het
Or4k15b T C 14: 50,272,287 (GRCm39) D191G probably damaging Het
Osgin2 T A 4: 16,001,946 (GRCm39) I202L probably benign Het
Pbld2 C A 10: 62,893,476 (GRCm39) R271S probably damaging Het
Pex6 C T 17: 47,023,027 (GRCm39) T201I probably benign Het
Pilra T C 5: 137,833,777 (GRCm39) I96M probably damaging Het
Pllp T A 8: 95,403,906 (GRCm39) D47V possibly damaging Het
Plxna2 A G 1: 194,444,902 (GRCm39) S765G probably benign Het
Prkca A T 11: 107,852,434 (GRCm39) Y100N probably damaging Het
Prkg1 T A 19: 31,641,579 (GRCm39) K35* probably null Het
Psmc2 A G 5: 22,008,263 (GRCm39) D389G possibly damaging Het
Rnf213 A G 11: 119,331,951 (GRCm39) T2387A probably damaging Het
Ros1 T C 10: 52,005,192 (GRCm39) N914S probably damaging Het
Ruvbl1 C A 6: 88,468,581 (GRCm39) T367K probably benign Het
Scube2 C T 7: 109,409,920 (GRCm39) R525H probably damaging Het
Sec14l4 T C 11: 3,985,200 (GRCm39) probably null Het
Secisbp2l T C 2: 125,587,862 (GRCm39) D751G probably damaging Het
Setd3 T C 12: 108,074,949 (GRCm39) D402G probably benign Het
Slc15a2 T A 16: 36,578,211 (GRCm39) K359N probably damaging Het
Slc25a21 A G 12: 57,243,721 (GRCm39) S2P probably benign Het
Slfn8 A T 11: 82,908,332 (GRCm39) H70Q probably benign Het
Spef2 T C 15: 9,647,576 (GRCm39) I944V probably benign Het
Spg11 A G 2: 121,895,557 (GRCm39) F1887S probably damaging Het
Sptbn4 A T 7: 27,066,160 (GRCm39) D649E possibly damaging Het
Sptbn4 T C 7: 27,063,844 (GRCm39) E879G probably damaging Het
Stx5a C A 19: 8,720,725 (GRCm39) R121S probably damaging Het
Tbcd T C 11: 121,384,597 (GRCm39) L26P probably damaging Het
Tecpr1 T C 5: 144,144,255 (GRCm39) D649G probably benign Het
Tfam A G 10: 71,073,677 (GRCm39) S32P probably benign Het
Tmt1b G T 10: 128,796,571 (GRCm39) C79* probably null Het
Trmt44 C T 5: 35,715,387 (GRCm39) R642H probably benign Het
Trpm3 G A 19: 22,965,145 (GRCm39) A1547T probably benign Het
Ttll6 T C 11: 96,044,003 (GRCm39) V519A probably benign Het
Umodl1 T C 17: 31,217,088 (GRCm39) F1107L probably benign Het
Usp5 A T 6: 124,794,919 (GRCm39) V677E probably damaging Het
Utp20 A T 10: 88,643,307 (GRCm39) L605* probably null Het
Utrn T C 10: 12,620,984 (GRCm39) D229G probably damaging Het
Uty A T Y: 1,176,502 (GRCm39) L178* probably null Het
Vmn2r88 A T 14: 51,650,791 (GRCm39) D168V possibly damaging Het
Vps13b T C 15: 35,646,324 (GRCm39) V1476A probably damaging Het
Vps13b C A 15: 35,879,967 (GRCm39) T3014K probably benign Het
Vps13b C T 15: 35,841,487 (GRCm39) H2506Y probably benign Het
Vps37c T C 19: 10,690,132 (GRCm39) V198A probably benign Het
Zfc3h1 T C 10: 115,259,290 (GRCm39) Y1621H probably benign Het
Zfp251 T C 15: 76,738,607 (GRCm39) D162G possibly damaging Het
Zfp292 T C 4: 34,807,078 (GRCm39) T1994A probably benign Het
Zfp791 A G 8: 85,837,559 (GRCm39) Y102H probably benign Het
Other mutations in H2-T5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00157:H2-T5 APN 17 36,476,246 (GRCm39) critical splice donor site probably null
IGL00534:H2-T5 APN 17 36,479,021 (GRCm39) missense probably damaging 1.00
IGL02312:H2-T5 APN 17 36,476,299 (GRCm39) missense probably benign 0.01
IGL03346:H2-T5 APN 17 36,479,001 (GRCm39) missense probably damaging 1.00
H8441:H2-T5 UTSW 17 36,478,874 (GRCm39) missense possibly damaging 0.84
R0005:H2-T5 UTSW 17 36,473,084 (GRCm39) unclassified probably benign
R0078:H2-T5 UTSW 17 36,476,353 (GRCm39) missense possibly damaging 0.95
R0211:H2-T5 UTSW 17 36,478,899 (GRCm39) missense probably damaging 1.00
R0211:H2-T5 UTSW 17 36,478,899 (GRCm39) missense probably damaging 1.00
R0233:H2-T5 UTSW 17 36,478,361 (GRCm39) missense probably benign 0.42
R0233:H2-T5 UTSW 17 36,478,361 (GRCm39) missense probably benign 0.42
R0553:H2-T5 UTSW 17 36,478,949 (GRCm39) missense probably damaging 1.00
R0670:H2-T5 UTSW 17 36,478,990 (GRCm39) missense possibly damaging 0.74
R1718:H2-T5 UTSW 17 36,472,676 (GRCm39) unclassified probably benign
R1937:H2-T5 UTSW 17 36,478,899 (GRCm39) missense probably damaging 1.00
R2571:H2-T5 UTSW 17 36,478,553 (GRCm39) missense possibly damaging 0.66
R4393:H2-T5 UTSW 17 36,472,861 (GRCm39) unclassified probably benign
R4396:H2-T5 UTSW 17 36,472,861 (GRCm39) unclassified probably benign
R4409:H2-T5 UTSW 17 36,476,742 (GRCm39) missense possibly damaging 0.53
R4505:H2-T5 UTSW 17 36,472,372 (GRCm39) unclassified probably benign
R4506:H2-T5 UTSW 17 36,472,372 (GRCm39) unclassified probably benign
R4507:H2-T5 UTSW 17 36,472,372 (GRCm39) unclassified probably benign
R4579:H2-T5 UTSW 17 36,472,649 (GRCm39) unclassified probably benign
R4740:H2-T5 UTSW 17 36,478,448 (GRCm39) missense probably damaging 1.00
R5087:H2-T5 UTSW 17 36,476,308 (GRCm39) nonsense probably null
R5103:H2-T5 UTSW 17 36,472,577 (GRCm39) unclassified probably benign
R5275:H2-T5 UTSW 17 36,472,567 (GRCm39) splice site probably null
R5425:H2-T5 UTSW 17 36,479,377 (GRCm39) missense probably damaging 1.00
R6155:H2-T5 UTSW 17 36,478,399 (GRCm39) missense possibly damaging 0.93
R6727:H2-T5 UTSW 17 36,476,622 (GRCm39) missense probably damaging 1.00
R6852:H2-T5 UTSW 17 36,478,965 (GRCm39) missense possibly damaging 0.52
R7985:H2-T5 UTSW 17 36,478,445 (GRCm39) missense probably damaging 1.00
R8316:H2-T5 UTSW 17 36,479,154 (GRCm39) missense unknown
R8872:H2-T5 UTSW 17 36,476,293 (GRCm39) missense probably benign 0.00
R9046:H2-T5 UTSW 17 36,476,035 (GRCm39) critical splice donor site probably null
R9296:H2-T5 UTSW 17 36,479,169 (GRCm39) missense unknown
Z1177:H2-T5 UTSW 17 36,476,604 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCCCACTTCTGGAAGGTTC -3'
(R):5'- TGGCTCATGTGGATTCCCTC -3'

Sequencing Primer
(F):5'- AAGGTTCCATCCCCTGCAG -3'
(R):5'- CTTCTGAGTCCCAAAAGAAAATGTGC -3'
Posted On 2015-10-21