Incidental Mutation 'R3425:H2-T22'
ID 271742
Institutional Source Beutler Lab
Gene Symbol H2-T22
Ensembl Gene ENSMUSG00000056116
Gene Name histocompatibility 2, T region locus 22
Synonyms H2-T17, H-2T17, H-2T22
MMRRC Submission 040643-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R3425 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 36348020-36353634 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 36352472 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 151 (L151R)
Ref Sequence ENSEMBL: ENSMUSP00000078927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058801] [ENSMUST00000077960] [ENSMUST00000080015] [ENSMUST00000097331] [ENSMUST00000173280]
AlphaFold Q31615
Predicted Effect probably damaging
Transcript: ENSMUST00000058801
AA Change: L151R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000056041
Gene: ENSMUSG00000056116
AA Change: L151R

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:MHC_I 29 191 5.8e-47 PFAM
IGc1 210 281 2.06e-23 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000077960
AA Change: L151R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077111
Gene: ENSMUSG00000056116
AA Change: L151R

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:MHC_I 29 191 4e-47 PFAM
IGc1 210 281 2.06e-23 SMART
transmembrane domain 295 317 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000080015
AA Change: L151R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078927
Gene: ENSMUSG00000056116
AA Change: L151R

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:MHC_I 29 191 7.3e-47 PFAM
IGc1 210 281 2.06e-23 SMART
transmembrane domain 295 317 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000097331
SMART Domains Protein: ENSMUSP00000094943
Gene: ENSMUSG00000073407

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
low complexity region 103 115 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172633
Predicted Effect probably benign
Transcript: ENSMUST00000173280
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173900
Meta Mutation Damage Score 0.6634 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 97% (30/31)
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap5m1 A G 14: 49,311,140 (GRCm39) E70G probably damaging Het
Atp8b3 T C 10: 80,372,181 (GRCm39) E16G probably benign Het
Csmd3 A T 15: 47,710,648 (GRCm39) D1646E probably damaging Het
Cyp2c70 G T 19: 40,172,468 (GRCm39) A58E probably damaging Het
Ddx11 T C 17: 66,446,434 (GRCm39) I415T possibly damaging Het
Gm8674 T A 13: 50,055,792 (GRCm39) noncoding transcript Het
Hmgcs1 C A 13: 120,166,668 (GRCm39) P420Q probably damaging Het
Il16 T C 7: 83,293,248 (GRCm39) E575G probably damaging Het
Ism2 T C 12: 87,333,871 (GRCm39) N58S probably benign Het
Kat7 T C 11: 95,193,991 (GRCm39) E103G probably damaging Het
Klf15 T C 6: 90,443,802 (GRCm39) S126P probably benign Het
Mapt C T 11: 104,189,548 (GRCm39) R189* probably null Het
Meltf C T 16: 31,715,343 (GRCm39) R679* probably null Het
Myo1d T C 11: 80,492,464 (GRCm39) T764A probably benign Het
Mypn T C 10: 62,954,196 (GRCm39) probably benign Het
Or5b101 G C 19: 13,005,411 (GRCm39) A94G probably benign Het
Or8h8 C T 2: 86,752,950 (GRCm39) E309K probably benign Het
Ptpn4 T C 1: 119,635,560 (GRCm39) D381G probably benign Het
Ros1 C A 10: 52,004,512 (GRCm39) probably null Het
Scel T G 14: 103,845,542 (GRCm39) V559G possibly damaging Het
Sez6l T C 5: 112,574,615 (GRCm39) D875G probably damaging Het
Slc18b1 T G 10: 23,698,874 (GRCm39) M348R probably damaging Het
Slc36a3 G T 11: 55,033,607 (GRCm39) T137K probably benign Het
Slco4c1 A T 1: 96,768,976 (GRCm39) S295R probably benign Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tmprss15 A T 16: 78,800,321 (GRCm39) N587K possibly damaging Het
Upp1 T C 11: 9,075,700 (GRCm39) probably null Het
Zp1 G A 19: 10,895,956 (GRCm39) R227W probably benign Het
Other mutations in H2-T22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01088:H2-T22 APN 17 36,352,811 (GRCm39) missense probably damaging 0.99
IGL02978:H2-T22 APN 17 36,352,517 (GRCm39) missense probably benign 0.00
R0078:H2-T22 UTSW 17 36,351,501 (GRCm39) missense probably damaging 0.99
R0448:H2-T22 UTSW 17 36,353,278 (GRCm39) missense possibly damaging 0.96
R1402:H2-T22 UTSW 17 36,351,161 (GRCm39) missense possibly damaging 0.95
R1402:H2-T22 UTSW 17 36,351,161 (GRCm39) missense possibly damaging 0.95
R1592:H2-T22 UTSW 17 36,352,469 (GRCm39) missense probably damaging 0.99
R1830:H2-T22 UTSW 17 36,352,434 (GRCm39) missense probably benign 0.00
R2105:H2-T22 UTSW 17 36,351,409 (GRCm39) missense probably benign 0.23
R2116:H2-T22 UTSW 17 36,349,949 (GRCm39) splice site probably null
R2964:H2-T22 UTSW 17 36,351,537 (GRCm39) missense probably damaging 1.00
R2965:H2-T22 UTSW 17 36,351,537 (GRCm39) missense probably damaging 1.00
R3875:H2-T22 UTSW 17 36,351,195 (GRCm39) missense probably benign 0.03
R4614:H2-T22 UTSW 17 36,351,429 (GRCm39) missense probably benign 0.28
R4691:H2-T22 UTSW 17 36,352,462 (GRCm39) frame shift probably null
R4870:H2-T22 UTSW 17 36,349,924 (GRCm39) missense probably benign 0.00
R4954:H2-T22 UTSW 17 36,352,851 (GRCm39) missense probably damaging 1.00
R5109:H2-T22 UTSW 17 36,350,113 (GRCm39) nonsense probably null
R5995:H2-T22 UTSW 17 36,352,377 (GRCm39) missense probably benign 0.18
R7379:H2-T22 UTSW 17 36,353,232 (GRCm39) critical splice donor site probably null
R7597:H2-T22 UTSW 17 36,351,408 (GRCm39) missense probably damaging 1.00
R8719:H2-T22 UTSW 17 36,352,835 (GRCm39) missense probably benign 0.04
R8861:H2-T22 UTSW 17 36,353,290 (GRCm39) missense possibly damaging 0.86
R9661:H2-T22 UTSW 17 36,353,371 (GRCm39) start gained probably benign
Z1088:H2-T22 UTSW 17 36,352,530 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GTGAGCTGTACTCCAAGTCCTC -3'
(R):5'- CCAAGAGTCTGCAGGGATTTAC -3'

Sequencing Primer
(F):5'- GAGCTGTACTCCAAGTCCTCTCTTC -3'
(R):5'- AAGAGTCTGCAGGGATTTACTTGGAG -3'
Posted On 2015-03-25