Incidental Mutation 'R5329:R3hdm2'
ID 422229
Institutional Source Beutler Lab
Gene Symbol R3hdm2
Ensembl Gene ENSMUSG00000025404
Gene Name R3H domain containing 2
Synonyms 1300003K24Rik
MMRRC Submission 042911-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.548) question?
Stock # R5329 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 127216201-127335253 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127294762 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 215 (H215R)
Ref Sequence ENSEMBL: ENSMUSP00000128659 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064793] [ENSMUST00000077046] [ENSMUST00000105249] [ENSMUST00000105250] [ENSMUST00000105251] [ENSMUST00000164161] [ENSMUST00000164831] [ENSMUST00000166820] [ENSMUST00000170336] [ENSMUST00000165440] [ENSMUST00000169888]
AlphaFold Q80TM6
Predicted Effect probably damaging
Transcript: ENSMUST00000064793
AA Change: H215R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000069724
Gene: ENSMUSG00000025404
AA Change: H215R

DomainStartEndE-ValueType
low complexity region 15 30 N/A INTRINSIC
low complexity region 109 132 N/A INTRINSIC
R3H 152 229 1.26e-16 SMART
low complexity region 306 318 N/A INTRINSIC
low complexity region 398 429 N/A INTRINSIC
low complexity region 442 457 N/A INTRINSIC
low complexity region 699 730 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000077046
AA Change: H215R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000076303
Gene: ENSMUSG00000025404
AA Change: H215R

DomainStartEndE-ValueType
low complexity region 15 30 N/A INTRINSIC
low complexity region 109 132 N/A INTRINSIC
R3H 152 229 1.26e-16 SMART
Pfam:SUZ 250 303 7.4e-14 PFAM
low complexity region 338 350 N/A INTRINSIC
low complexity region 430 461 N/A INTRINSIC
low complexity region 474 499 N/A INTRINSIC
low complexity region 744 775 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000105249
AA Change: H215R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000100884
Gene: ENSMUSG00000025404
AA Change: H215R

DomainStartEndE-ValueType
low complexity region 15 30 N/A INTRINSIC
low complexity region 109 132 N/A INTRINSIC
R3H 152 229 1.26e-16 SMART
Pfam:SUZ 250 303 5.4e-12 PFAM
low complexity region 320 332 N/A INTRINSIC
low complexity region 412 443 N/A INTRINSIC
low complexity region 692 723 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000105250
AA Change: H215R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000100885
Gene: ENSMUSG00000025404
AA Change: H215R

DomainStartEndE-ValueType
low complexity region 15 30 N/A INTRINSIC
low complexity region 109 132 N/A INTRINSIC
R3H 152 229 1.26e-16 SMART
Pfam:SUZ 250 303 5.6e-12 PFAM
low complexity region 320 332 N/A INTRINSIC
low complexity region 412 443 N/A INTRINSIC
low complexity region 456 481 N/A INTRINSIC
low complexity region 726 757 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000105251
AA Change: H215R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000100886
Gene: ENSMUSG00000025404
AA Change: H215R

DomainStartEndE-ValueType
low complexity region 15 30 N/A INTRINSIC
low complexity region 109 132 N/A INTRINSIC
R3H 152 229 1.26e-16 SMART
Pfam:SUZ 250 303 5.6e-12 PFAM
low complexity region 320 332 N/A INTRINSIC
low complexity region 412 443 N/A INTRINSIC
low complexity region 456 481 N/A INTRINSIC
low complexity region 726 757 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163794
Predicted Effect probably benign
Transcript: ENSMUST00000164161
SMART Domains Protein: ENSMUSP00000126185
Gene: ENSMUSG00000025404

DomainStartEndE-ValueType
low complexity region 15 30 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000164831
AA Change: H215R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131007
Gene: ENSMUSG00000025404
AA Change: H215R

DomainStartEndE-ValueType
low complexity region 15 30 N/A INTRINSIC
low complexity region 109 132 N/A INTRINSIC
R3H 152 229 1.26e-16 SMART
low complexity region 306 318 N/A INTRINSIC
low complexity region 398 429 N/A INTRINSIC
low complexity region 678 709 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000166820
AA Change: H215R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000126608
Gene: ENSMUSG00000025404
AA Change: H215R

DomainStartEndE-ValueType
low complexity region 15 30 N/A INTRINSIC
low complexity region 109 132 N/A INTRINSIC
R3H 152 229 1.26e-16 SMART
Pfam:SUZ 250 303 5.7e-12 PFAM
low complexity region 338 350 N/A INTRINSIC
low complexity region 430 461 N/A INTRINSIC
low complexity region 474 499 N/A INTRINSIC
low complexity region 744 775 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000170336
AA Change: H215R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000128659
Gene: ENSMUSG00000025404
AA Change: H215R

DomainStartEndE-ValueType
low complexity region 15 30 N/A INTRINSIC
low complexity region 109 132 N/A INTRINSIC
R3H 152 229 1.26e-16 SMART
low complexity region 306 318 N/A INTRINSIC
low complexity region 398 429 N/A INTRINSIC
low complexity region 442 467 N/A INTRINSIC
low complexity region 712 743 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171823
Predicted Effect probably benign
Transcript: ENSMUST00000165440
SMART Domains Protein: ENSMUSP00000133118
Gene: ENSMUSG00000025404

DomainStartEndE-ValueType
Pfam:SUZ 17 64 1.4e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169888
SMART Domains Protein: ENSMUSP00000126760
Gene: ENSMUSG00000025404

DomainStartEndE-ValueType
Pfam:SUZ 7 54 4.7e-12 PFAM
low complexity region 71 83 N/A INTRINSIC
low complexity region 163 194 N/A INTRINSIC
low complexity region 443 474 N/A INTRINSIC
Meta Mutation Damage Score 0.9384 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 98% (61/62)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430005L14Rik G A 4: 154,044,284 (GRCm39) V32I probably benign Het
Abcg4 A T 9: 44,190,842 (GRCm39) M19K probably benign Het
Acsm1 A G 7: 119,255,274 (GRCm39) T392A probably benign Het
Adam19 A T 11: 46,015,853 (GRCm39) I338F probably damaging Het
Adamdec1 C T 14: 68,807,612 (GRCm39) M349I probably damaging Het
Arhgef11 T A 3: 87,587,059 (GRCm39) probably benign Het
Bptf T C 11: 106,964,121 (GRCm39) D1628G probably benign Het
Camk2d C T 3: 126,391,131 (GRCm39) Q15* probably null Het
Camk2g T G 14: 20,843,999 (GRCm39) D12A possibly damaging Het
Cemip2 T C 19: 21,775,693 (GRCm39) I312T probably benign Het
Cgn T C 3: 94,687,300 (GRCm39) M1V probably null Het
Clec16a G A 16: 10,549,543 (GRCm39) C872Y probably damaging Het
Dcbld1 C A 10: 52,160,353 (GRCm39) probably benign Het
Ear-ps2 G A 14: 44,284,517 (GRCm39) noncoding transcript Het
Efcab3 T G 11: 104,644,632 (GRCm39) probably null Het
Espl1 T A 15: 102,220,953 (GRCm39) L903Q probably damaging Het
Gm5117 T A 8: 32,227,910 (GRCm39) noncoding transcript Het
Gm5150 T C 3: 16,017,588 (GRCm39) T228A probably benign Het
Gm5435 A T 12: 82,543,250 (GRCm39) noncoding transcript Het
Gpr156 T A 16: 37,825,810 (GRCm39) C676S probably benign Het
Gstt3 C T 10: 75,610,685 (GRCm39) E230K possibly damaging Het
Jarid2 A G 13: 45,059,747 (GRCm39) I660V possibly damaging Het
Kif13a A G 13: 46,928,877 (GRCm39) probably null Het
Kntc1 T A 5: 123,902,254 (GRCm39) V299D probably benign Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Lipk T A 19: 33,997,613 (GRCm39) probably null Het
Loxhd1 T C 18: 77,420,378 (GRCm39) L334P probably damaging Het
Macc1 T A 12: 119,410,212 (GRCm39) Y327N probably damaging Het
Man2a2 G A 7: 80,010,876 (GRCm39) S705L possibly damaging Het
Mmp1b T C 9: 7,384,897 (GRCm39) I251V possibly damaging Het
Ncam2 A T 16: 81,231,707 (GRCm39) Q57L probably damaging Het
Nedd1 T C 10: 92,522,102 (GRCm39) E645G probably damaging Het
Nfatc1 A T 18: 80,751,332 (GRCm39) M1K probably null Het
Nlrp9b A T 7: 19,757,916 (GRCm39) R384S probably damaging Het
Nrxn3 A G 12: 89,780,354 (GRCm39) H62R possibly damaging Het
Or2h2b-ps1 T A 17: 37,480,891 (GRCm39) Y216F probably damaging Het
Or4c125 T A 2: 89,169,803 (GRCm39) Y281F probably damaging Het
Or51i1 T C 7: 103,671,204 (GRCm39) H107R probably damaging Het
Or8b39 A T 9: 37,996,422 (GRCm39) M97L probably benign Het
Or8h7 A G 2: 86,720,964 (GRCm39) L185S probably damaging Het
Pdzph1 T A 17: 59,281,875 (GRCm39) I136F probably damaging Het
Pigg T C 5: 108,462,026 (GRCm39) I119T probably damaging Het
Septin14 C T 5: 129,762,978 (GRCm39) probably null Het
Slc9a3 T C 13: 74,299,079 (GRCm39) M166T possibly damaging Het
Spock3 A G 8: 63,798,816 (GRCm39) D279G probably damaging Het
Suco T C 1: 161,660,999 (GRCm39) I967V probably damaging Het
Tgtp1 A G 11: 48,878,003 (GRCm39) L234P probably damaging Het
Tmem176a A G 6: 48,819,151 (GRCm39) D4G probably benign Het
Ugt1a10 G A 1: 88,143,976 (GRCm39) A199T probably damaging Het
Uox A G 3: 146,330,300 (GRCm39) D152G probably damaging Het
Vmn1r35 C T 6: 66,656,490 (GRCm39) W60* probably null Het
Vmn2r103 T C 17: 20,032,433 (GRCm39) C736R probably damaging Het
Other mutations in R3hdm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01397:R3hdm2 APN 10 127,294,719 (GRCm39) missense probably damaging 1.00
IGL02114:R3hdm2 APN 10 127,319,978 (GRCm39) missense probably damaging 0.99
IGL02116:R3hdm2 APN 10 127,334,421 (GRCm39) missense probably damaging 1.00
IGL02549:R3hdm2 APN 10 127,320,094 (GRCm39) splice site probably benign
IGL02647:R3hdm2 APN 10 127,295,353 (GRCm39) missense probably damaging 1.00
IGL02696:R3hdm2 APN 10 127,300,888 (GRCm39) splice site probably null
IGL02732:R3hdm2 APN 10 127,319,929 (GRCm39) missense probably benign 0.43
R0131:R3hdm2 UTSW 10 127,334,322 (GRCm39) missense probably damaging 1.00
R0131:R3hdm2 UTSW 10 127,334,322 (GRCm39) missense probably damaging 1.00
R0132:R3hdm2 UTSW 10 127,334,322 (GRCm39) missense probably damaging 1.00
R0157:R3hdm2 UTSW 10 127,307,858 (GRCm39) missense probably damaging 0.99
R0179:R3hdm2 UTSW 10 127,330,975 (GRCm39) missense probably damaging 1.00
R0196:R3hdm2 UTSW 10 127,320,390 (GRCm39) missense probably damaging 1.00
R0401:R3hdm2 UTSW 10 127,294,042 (GRCm39) missense possibly damaging 0.90
R0505:R3hdm2 UTSW 10 127,293,569 (GRCm39) missense probably damaging 1.00
R0606:R3hdm2 UTSW 10 127,280,313 (GRCm39) missense probably damaging 1.00
R1188:R3hdm2 UTSW 10 127,288,624 (GRCm39) missense probably benign 0.02
R1466:R3hdm2 UTSW 10 127,312,559 (GRCm39) missense probably benign 0.01
R1466:R3hdm2 UTSW 10 127,312,559 (GRCm39) missense probably benign 0.01
R1503:R3hdm2 UTSW 10 127,307,695 (GRCm39) nonsense probably null
R1584:R3hdm2 UTSW 10 127,312,559 (GRCm39) missense probably benign 0.01
R1652:R3hdm2 UTSW 10 127,330,960 (GRCm39) missense probably benign 0.00
R1901:R3hdm2 UTSW 10 127,334,337 (GRCm39) missense possibly damaging 0.91
R3735:R3hdm2 UTSW 10 127,300,879 (GRCm39) missense probably benign
R5261:R3hdm2 UTSW 10 127,334,285 (GRCm39) missense probably damaging 1.00
R5379:R3hdm2 UTSW 10 127,307,771 (GRCm39) missense probably damaging 1.00
R5380:R3hdm2 UTSW 10 127,321,316 (GRCm39) missense probably damaging 1.00
R5387:R3hdm2 UTSW 10 127,321,303 (GRCm39) missense probably damaging 1.00
R5558:R3hdm2 UTSW 10 127,280,271 (GRCm39) missense probably damaging 1.00
R5773:R3hdm2 UTSW 10 127,280,172 (GRCm39) utr 5 prime probably benign
R5936:R3hdm2 UTSW 10 127,307,681 (GRCm39) missense probably damaging 1.00
R6024:R3hdm2 UTSW 10 127,295,349 (GRCm39) missense probably damaging 1.00
R6160:R3hdm2 UTSW 10 127,320,376 (GRCm39) missense probably damaging 1.00
R6191:R3hdm2 UTSW 10 127,320,384 (GRCm39) missense probably damaging 1.00
R7058:R3hdm2 UTSW 10 127,320,382 (GRCm39) missense probably damaging 1.00
R7224:R3hdm2 UTSW 10 127,294,022 (GRCm39) missense probably damaging 1.00
R7253:R3hdm2 UTSW 10 127,317,644 (GRCm39) missense probably damaging 1.00
R7305:R3hdm2 UTSW 10 127,312,547 (GRCm39) missense probably benign 0.08
R7349:R3hdm2 UTSW 10 127,328,515 (GRCm39) missense probably benign
R7431:R3hdm2 UTSW 10 127,294,016 (GRCm39) missense probably benign 0.16
R7891:R3hdm2 UTSW 10 127,334,443 (GRCm39) missense probably benign 0.07
R8477:R3hdm2 UTSW 10 127,320,029 (GRCm39) missense probably damaging 1.00
R8503:R3hdm2 UTSW 10 127,328,481 (GRCm39) missense possibly damaging 0.95
R8782:R3hdm2 UTSW 10 127,293,521 (GRCm39) missense probably damaging 1.00
R8783:R3hdm2 UTSW 10 127,293,521 (GRCm39) missense probably damaging 1.00
R8784:R3hdm2 UTSW 10 127,293,521 (GRCm39) missense probably damaging 1.00
R8787:R3hdm2 UTSW 10 127,293,521 (GRCm39) missense probably damaging 1.00
R8789:R3hdm2 UTSW 10 127,293,521 (GRCm39) missense probably damaging 1.00
R8790:R3hdm2 UTSW 10 127,293,521 (GRCm39) missense probably damaging 1.00
R9041:R3hdm2 UTSW 10 127,320,405 (GRCm39) missense probably damaging 1.00
R9198:R3hdm2 UTSW 10 127,293,521 (GRCm39) missense probably damaging 1.00
R9200:R3hdm2 UTSW 10 127,293,521 (GRCm39) missense probably damaging 1.00
R9202:R3hdm2 UTSW 10 127,293,521 (GRCm39) missense probably damaging 1.00
R9706:R3hdm2 UTSW 10 127,334,298 (GRCm39) missense probably benign 0.01
R9760:R3hdm2 UTSW 10 127,280,182 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CTTAGGTAGCACCACGCAATG -3'
(R):5'- TCTCACAGAAGTAGGAATTGATGAG -3'

Sequencing Primer
(F):5'- GGCTGGAACACATTCATGTAC -3'
(R):5'- GTAGGAATTGATGAGATACCCTCCC -3'
Posted On 2016-08-04