Incidental Mutation 'R4170:Gzmn'
ID 320749
Institutional Source Beutler Lab
Gene Symbol Gzmn
Ensembl Gene ENSMUSG00000015443
Gene Name granzyme N
Synonyms GrN
MMRRC Submission 040863-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R4170 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 56403254-56412056 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56404261 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 192 (D192G)
Ref Sequence ENSEMBL: ENSMUSP00000015587 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015587] [ENSMUST00000225535]
AlphaFold Q920S1
Predicted Effect possibly damaging
Transcript: ENSMUST00000015587
AA Change: D192G

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000015587
Gene: ENSMUSG00000015443
AA Change: D192G

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Tryp_SPc 20 241 5.89e-72 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224928
Predicted Effect possibly damaging
Transcript: ENSMUST00000225535
AA Change: D192G

PolyPhen 2 Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700047A11Rik T A 8: 26,585,815 (GRCm39) T63S probably benign Het
Acap3 T A 4: 155,984,458 (GRCm39) S189T possibly damaging Het
Acsbg2 G A 17: 57,160,846 (GRCm39) T266I probably benign Het
Cacna1s A G 1: 136,035,933 (GRCm39) D1144G probably damaging Het
Diaph3 T C 14: 87,223,143 (GRCm39) D365G probably damaging Het
Dock7 T A 4: 98,854,638 (GRCm39) D1542V probably damaging Het
Efr3a T A 15: 65,717,831 (GRCm39) V337D probably damaging Het
Elk3 A G 10: 93,101,197 (GRCm39) probably null Het
Ercc6 T C 14: 32,288,754 (GRCm39) L867P probably damaging Het
Gdf6 A G 4: 9,859,650 (GRCm39) D244G probably benign Het
Get1 G A 16: 95,954,176 (GRCm39) A92T probably benign Het
Krt81 T A 15: 101,359,193 (GRCm39) M242L probably benign Het
Lysmd3 C T 13: 81,817,529 (GRCm39) Q169* probably null Het
Man2c1 A G 9: 57,045,310 (GRCm39) D473G probably benign Het
Mmp23 C T 4: 155,735,767 (GRCm39) R268Q probably damaging Het
Or1j17 C A 2: 36,578,734 (GRCm39) T240N probably damaging Het
Or5p58 T A 7: 107,694,280 (GRCm39) I166L probably benign Het
Prmt3 G T 7: 49,476,524 (GRCm39) A378S probably benign Het
Ptf1a C T 2: 19,451,819 (GRCm39) L273F possibly damaging Het
Ptpru A T 4: 131,503,659 (GRCm39) Y1124N probably damaging Het
Rtkn T G 6: 83,119,376 (GRCm39) M1R probably null Het
Rttn T A 18: 88,993,847 (GRCm39) F175I probably damaging Het
Slc5a7 T C 17: 54,583,886 (GRCm39) D468G probably benign Het
Slc9a9 A G 9: 95,110,952 (GRCm39) Y590C probably damaging Het
Smarcd1 T C 15: 99,605,812 (GRCm39) L320P probably damaging Het
Sox2 A T 3: 34,704,703 (GRCm39) M47L probably damaging Het
Sptan1 T C 2: 29,920,037 (GRCm39) M2258T possibly damaging Het
Tnrc6b T A 15: 80,800,988 (GRCm39) D1431E probably benign Het
Trav8n-2 A T 14: 53,583,875 (GRCm39) T111S possibly damaging Het
Tut4 A G 4: 108,405,256 (GRCm39) Y1293C probably damaging Het
Zbtb46 T C 2: 181,066,148 (GRCm39) M1V probably null Het
Zfp7 T C 15: 76,775,818 (GRCm39) V620A probably benign Het
Zfp804a T A 2: 82,083,832 (GRCm39) F95I probably damaging Het
Other mutations in Gzmn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00473:Gzmn APN 14 56,404,436 (GRCm39) missense probably benign 0.06
IGL01638:Gzmn APN 14 56,406,476 (GRCm39) missense probably benign 0.03
IGL02234:Gzmn APN 14 56,406,464 (GRCm39) splice site probably null
IGL02691:Gzmn APN 14 56,404,370 (GRCm39) missense probably benign 0.10
R0022:Gzmn UTSW 14 56,404,382 (GRCm39) missense probably damaging 1.00
R1589:Gzmn UTSW 14 56,403,368 (GRCm39) missense probably benign 0.05
R3763:Gzmn UTSW 14 56,404,361 (GRCm39) missense probably benign 0.08
R4153:Gzmn UTSW 14 56,405,299 (GRCm39) missense probably damaging 1.00
R4420:Gzmn UTSW 14 56,403,463 (GRCm39) missense probably benign 0.03
R5215:Gzmn UTSW 14 56,405,319 (GRCm39) missense probably damaging 1.00
R5307:Gzmn UTSW 14 56,405,403 (GRCm39) missense probably damaging 0.99
R6727:Gzmn UTSW 14 56,403,432 (GRCm39) missense probably damaging 0.99
R7644:Gzmn UTSW 14 56,404,776 (GRCm39) missense probably damaging 1.00
R9701:Gzmn UTSW 14 56,405,310 (GRCm39) missense probably benign 0.17
X0023:Gzmn UTSW 14 56,404,807 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAAAGTGACATCCAGCCCTG -3'
(R):5'- CCCAATCAGCTGGAGAGTAAGG -3'

Sequencing Primer
(F):5'- GACATCCAGCCCTGCCCTC -3'
(R):5'- ACTAGAGATGTGAGGCCCCTC -3'
Posted On 2015-06-12