Incidental Mutation 'R5936:R3hdm2'
ID 462272
Institutional Source Beutler Lab
Gene Symbol R3hdm2
Ensembl Gene ENSMUSG00000025404
Gene Name R3H domain containing 2
Synonyms 1300003K24Rik
MMRRC Submission 044130-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.577) question?
Stock # R5936 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 127216201-127335253 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 127307681 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 314 (S314N)
Ref Sequence ENSEMBL: ENSMUSP00000131007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064793] [ENSMUST00000077046] [ENSMUST00000105249] [ENSMUST00000105250] [ENSMUST00000105251] [ENSMUST00000164161] [ENSMUST00000164831] [ENSMUST00000166820] [ENSMUST00000169888] [ENSMUST00000170336]
AlphaFold Q80TM6
Predicted Effect probably damaging
Transcript: ENSMUST00000064793
AA Change: S314N

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000069724
Gene: ENSMUSG00000025404
AA Change: S314N

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: S346N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000076303
Gene: ENSMUSG00000025404
AA Change: S346N

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 possibly damaging
Transcript: ENSMUST00000105249
AA Change: S328N

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000100884
Gene: ENSMUSG00000025404
AA Change: S328N

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: S328N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000100885
Gene: ENSMUSG00000025404
AA Change: S328N

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: S328N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000100886
Gene: ENSMUSG00000025404
AA Change: S328N

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 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: S314N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131007
Gene: ENSMUSG00000025404
AA Change: S314N

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 noncoding transcript
Transcript: ENSMUST00000171823
Predicted Effect probably damaging
Transcript: ENSMUST00000166820
AA Change: S346N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000126608
Gene: ENSMUSG00000025404
AA Change: S346N

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: ENSMUST00000169888
AA Change: S79N

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126760
Gene: ENSMUSG00000025404
AA Change: S79N

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
Predicted Effect possibly damaging
Transcript: ENSMUST00000170336
AA Change: S314N

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000128659
Gene: ENSMUSG00000025404
AA Change: S314N

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
Meta Mutation Damage Score 0.1305 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.0%
Validation Efficiency 91% (77/85)
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik A T 2: 68,445,848 (GRCm39) probably benign Het
Acnat2 T C 4: 49,383,362 (GRCm39) T64A probably benign Het
Afap1 A G 5: 36,131,740 (GRCm39) N356D possibly damaging Het
Ahi1 A G 10: 20,841,832 (GRCm39) D301G probably damaging Het
Alpk2 G A 18: 65,483,591 (GRCm39) T139M probably damaging Het
Ankrd46 T C 15: 36,479,428 (GRCm39) D221G probably benign Het
Ano6 T A 15: 95,870,482 (GRCm39) L900H probably damaging Het
Asphd2 G A 5: 112,533,623 (GRCm39) R343* probably null Het
Atosa T C 9: 74,916,586 (GRCm39) L395P probably benign Het
Brdt A G 5: 107,507,261 (GRCm39) T554A probably damaging Het
Cacna1d A G 14: 29,893,271 (GRCm39) V401A possibly damaging Het
Cbs T C 17: 31,844,068 (GRCm39) T188A probably damaging Het
Cfap54 T A 10: 92,798,274 (GRCm39) T1662S probably benign Het
Chka A G 19: 3,934,580 (GRCm39) I205V probably benign Het
Chsy1 T A 7: 65,822,025 (GRCm39) N753K possibly damaging Het
Cpz A G 5: 35,659,987 (GRCm39) S553P probably benign Het
Crtac1 A G 19: 42,312,276 (GRCm39) Y146H probably damaging Het
Csf1r A T 18: 61,258,880 (GRCm39) I700F probably damaging Het
Ddx20 C A 3: 105,587,903 (GRCm39) E392D possibly damaging Het
Dhrs11 G T 11: 84,716,350 (GRCm39) Y67* probably null Het
Diaph3 G T 14: 87,009,552 (GRCm39) Q1076K possibly damaging Het
Dop1a T A 9: 86,418,565 (GRCm39) L2037* probably null Het
Dst G T 1: 34,346,539 (GRCm39) V5336L probably damaging Het
Etv1 C A 12: 38,885,209 (GRCm39) H248Q probably damaging Het
Fcgbp T C 7: 27,786,117 (GRCm39) V518A probably damaging Het
Fchsd2 T C 7: 100,840,908 (GRCm39) L139S probably damaging Het
Fer A T 17: 64,231,058 (GRCm39) T270S probably benign Het
Fgd5 A G 6: 91,964,892 (GRCm39) E375G probably damaging Het
Firrm T G 1: 163,814,581 (GRCm39) I121L probably benign Het
Gabarapl1 T A 6: 129,515,566 (GRCm39) I68N probably benign Het
Gopc C T 10: 52,222,295 (GRCm39) V30M probably damaging Het
Hbp1 T C 12: 31,987,095 (GRCm39) probably null Het
Helz2 A G 2: 180,872,560 (GRCm39) V2480A probably damaging Het
Igfbp3 T A 11: 7,159,472 (GRCm39) Y247F probably damaging Het
Kbtbd11 C A 8: 15,077,534 (GRCm39) S44R probably benign Het
Kcnk10 G T 12: 98,456,191 (GRCm39) S213R probably benign Het
Kcnq3 T A 15: 65,871,959 (GRCm39) D570V probably damaging Het
Kif21a A G 15: 90,819,850 (GRCm39) F1594S possibly damaging Het
Klf3 A G 5: 64,980,303 (GRCm39) D31G probably damaging Het
Mapkapk3 T C 9: 107,166,369 (GRCm39) K59E probably damaging Het
Myo18a A G 11: 77,709,039 (GRCm39) T484A probably damaging Het
Nlrp6 T A 7: 140,502,725 (GRCm39) L277* probably null Het
Nr5a1 G T 2: 38,591,790 (GRCm39) probably benign Het
Nsmaf C T 4: 6,421,017 (GRCm39) probably benign Het
Or4f58 T A 2: 111,851,932 (GRCm39) H89L probably benign Het
Orc1 A G 4: 108,459,180 (GRCm39) T450A probably benign Het
Pacsin1 A T 17: 27,923,971 (GRCm39) I122F probably benign Het
Pced1b T A 15: 97,283,061 (GRCm39) Y367N possibly damaging Het
Pced1b T A 15: 97,283,063 (GRCm39) Y367* probably null Het
Pdpk1 A G 17: 24,312,203 (GRCm39) F281L probably damaging Het
Piwil1 T C 5: 128,828,142 (GRCm39) V714A probably benign Het
Plcd3 C T 11: 102,969,173 (GRCm39) V265M probably damaging Het
Ppp1r1c A T 2: 79,586,798 (GRCm39) E48V possibly damaging Het
Prl2b1 T G 13: 27,572,432 (GRCm39) T53P probably damaging Het
Ptch2 T G 4: 116,965,491 (GRCm39) F359V probably benign Het
Rictor A T 15: 6,813,642 (GRCm39) S1043C probably damaging Het
Rtn4rl2 A T 2: 84,710,775 (GRCm39) L163Q probably damaging Het
Sarnp T A 10: 128,684,640 (GRCm39) S129T probably benign Het
Scube3 A T 17: 28,384,461 (GRCm39) K585M probably damaging Het
Sgk3 C T 1: 9,956,045 (GRCm39) probably benign Het
Skint6 C T 4: 112,953,790 (GRCm39) S458N probably benign Het
Slc25a54 A G 3: 109,005,954 (GRCm39) H154R possibly damaging Het
Sorbs1 A C 19: 40,313,216 (GRCm39) I690S probably damaging Het
Sqle C A 15: 59,202,678 (GRCm39) A512D probably damaging Het
Tedc2 A C 17: 24,435,315 (GRCm39) L358R probably damaging Het
Tfr2 A G 5: 137,585,268 (GRCm39) S767G probably benign Het
Thoc5 A G 11: 4,854,133 (GRCm39) E27G probably damaging Het
Trappc8 A T 18: 21,007,745 (GRCm39) F123L probably damaging Het
Ube3d C T 9: 86,254,512 (GRCm39) G323D probably benign Het
Unc13c T A 9: 73,485,774 (GRCm39) H1642L probably damaging Het
Vmn1r10 A T 6: 57,091,302 (GRCm39) H298L probably benign Het
Xpo4 A T 14: 57,880,956 (GRCm39) Y26N probably benign Het
Zer1 A G 2: 29,997,679 (GRCm39) L409P probably damaging Het
Zfyve28 A T 5: 34,382,332 (GRCm39) L256Q probably damaging Het
Zgrf1 A G 3: 127,355,902 (GRCm39) E376G possibly 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
R5329:R3hdm2 UTSW 10 127,294,762 (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
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'- CAGCAAACATGAAGTCAGTGTTC -3'
(R):5'- ATGAAAGGTGAGCCGCTGTG -3'

Sequencing Primer
(F):5'- GTGTTCACACCCCTTCCC -3'
(R):5'- TGGTACCTGGCCTGGAGAG -3'
Posted On 2017-02-28