Incidental Mutation 'R7253:R3hdm2'
ID 564094
Institutional Source Beutler Lab
Gene Symbol R3hdm2
Ensembl Gene ENSMUSG00000025404
Gene Name R3H domain containing 2
Synonyms 1300003K24Rik
MMRRC Submission 045314-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.548) question?
Stock # R7253 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 127216201-127335253 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 127317644 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 464 (P464L)
Ref Sequence ENSEMBL: ENSMUSP00000128659 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064793] [ENSMUST00000077046] [ENSMUST00000105249] [ENSMUST00000105250] [ENSMUST00000105251] [ENSMUST00000164161] [ENSMUST00000170336] [ENSMUST00000164831] [ENSMUST00000166820] [ENSMUST00000168079] [ENSMUST00000169888]
AlphaFold Q80TM6
Predicted Effect probably benign
Transcript: ENSMUST00000064793
SMART Domains Protein: ENSMUSP00000069724
Gene: ENSMUSG00000025404

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: P496L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076303
Gene: ENSMUSG00000025404
AA Change: P496L

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 benign
Transcript: ENSMUST00000105249
SMART Domains Protein: ENSMUSP00000100884
Gene: ENSMUSG00000025404

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: P478L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100885
Gene: ENSMUSG00000025404
AA Change: P478L

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: P478L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100886
Gene: ENSMUSG00000025404
AA Change: P478L

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: ENSMUST00000170336
AA Change: P464L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128659
Gene: ENSMUSG00000025404
AA Change: P464L

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 probably benign
Transcript: ENSMUST00000164831
SMART Domains Protein: ENSMUSP00000131007
Gene: ENSMUSG00000025404

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: P496L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126608
Gene: ENSMUSG00000025404
AA Change: P496L

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 benign
Transcript: ENSMUST00000168079
SMART Domains Protein: ENSMUSP00000130506
Gene: ENSMUSG00000025404

DomainStartEndE-ValueType
low complexity region 43 63 N/A INTRINSIC
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 99% (74/75)
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009N14Rik A G 4: 39,451,391 (GRCm39) H199R not run Het
Ak9 A G 10: 41,308,480 (GRCm39) N1804S unknown Het
Akr1c21 C A 13: 4,627,139 (GRCm39) T147N probably damaging Het
Aldh1a2 A G 9: 71,123,216 (GRCm39) T30A probably benign Het
Alox15 T C 11: 70,236,724 (GRCm39) D447G probably damaging Het
Amigo2 T C 15: 97,142,956 (GRCm39) I489V probably benign Het
Ano9 A T 7: 140,687,350 (GRCm39) Y322N probably damaging Het
Arhgap40 G T 2: 158,389,576 (GRCm39) W583L probably benign Het
Atxn2 A G 5: 121,916,084 (GRCm39) E430G probably damaging Het
Brip1 T C 11: 86,034,104 (GRCm39) Y539C possibly damaging Het
C87436 T A 6: 86,442,790 (GRCm39) L454Q probably damaging Het
Casp4 T G 9: 5,324,868 (GRCm39) Y227D probably benign Het
Ccn6 T G 10: 39,031,031 (GRCm39) N164T probably benign Het
Chd4 T A 6: 125,083,555 (GRCm39) probably null Het
Chrna10 A G 7: 101,761,293 (GRCm39) C433R probably benign Het
Cntln A T 4: 85,036,710 (GRCm39) N214I probably damaging Het
Colec12 G A 18: 9,848,922 (GRCm39) V367I probably damaging Het
Cyp46a1 T C 12: 108,318,255 (GRCm39) I222T probably benign Het
Dagla A T 19: 10,239,945 (GRCm39) probably null Het
Dcaf7 C A 11: 105,938,669 (GRCm39) probably null Het
Dclk2 C T 3: 86,700,566 (GRCm39) R638H probably damaging Het
E2f7 A G 10: 110,602,164 (GRCm39) probably null Het
Fam184a G T 10: 53,574,901 (GRCm39) T236K probably benign Het
Glyctk T C 9: 106,032,661 (GRCm39) T451A probably damaging Het
Hectd4 A G 5: 121,452,944 (GRCm39) K484E possibly damaging Het
Hspbap1 G T 16: 35,637,600 (GRCm39) C243F unknown Het
Hspg2 A C 4: 137,247,257 (GRCm39) N1160T probably benign Het
Ighv5-8 C T 12: 113,618,728 (GRCm39) L48F probably benign Het
Jazf1 C A 6: 52,754,637 (GRCm39) E146D probably benign Het
Katnb1 C T 8: 95,822,125 (GRCm39) Q284* probably null Het
Kctd18 G T 1: 58,001,115 (GRCm39) Y213* probably null Het
Klk1b26 T C 7: 43,664,213 (GRCm39) S23P possibly damaging Het
Krt88 T C 15: 101,348,392 (GRCm39) L26P probably damaging Het
Lrrc8b G A 5: 105,629,522 (GRCm39) V623I probably benign Het
Map3k4 T A 17: 12,490,955 (GRCm39) M159L probably benign Het
Mast3 C A 8: 71,242,326 (GRCm39) probably null Het
Mier1 G A 4: 102,996,544 (GRCm39) probably null Het
Mrpl46 T C 7: 78,431,207 (GRCm39) D117G probably damaging Het
Ms4a6b A G 19: 11,497,760 (GRCm39) S20G probably benign Het
Mup10 A T 4: 60,538,077 (GRCm39) M4K unknown Het
Nlrp5 C T 7: 23,116,816 (GRCm39) A180V possibly damaging Het
Nlrx1 T A 9: 44,176,001 (GRCm39) probably null Het
Odad3 T C 9: 21,913,767 (GRCm39) T2A probably damaging Het
Or2a52 T C 6: 43,144,744 (GRCm39) F251L probably damaging Het
Or2t45 T C 11: 58,669,822 (GRCm39) Y290H probably damaging Het
Or4c103 T C 2: 88,513,969 (GRCm39) T36A possibly damaging Het
Or51aa2 C T 7: 103,187,995 (GRCm39) A149T probably benign Het
Or5af2 T A 11: 58,708,366 (GRCm39) C177* probably null Het
Or5ak22 A G 2: 85,229,983 (GRCm39) I298T probably benign Het
Otud1 C A 2: 19,663,742 (GRCm39) D290E probably damaging Het
Pank4 A G 4: 155,055,377 (GRCm39) N249S probably benign Het
Pccb G T 9: 100,913,966 (GRCm39) S84R probably benign Het
Pemt A T 11: 59,862,081 (GRCm39) H194Q possibly damaging Het
Phtf2 A G 5: 20,970,856 (GRCm39) I634T possibly damaging Het
Pias2 T G 18: 77,207,811 (GRCm39) I232R probably damaging Het
Plce1 A G 19: 38,686,952 (GRCm39) E620G probably damaging Het
Pramel17 A T 4: 101,692,725 (GRCm39) V425E probably benign Het
Ptpn13 G A 5: 103,713,150 (GRCm39) E1758K possibly damaging Het
Ptprq T A 10: 107,444,134 (GRCm39) Q1490L probably benign Het
Ptx3 G T 3: 66,132,368 (GRCm39) M296I probably benign Het
Rapgef1 A G 2: 29,589,733 (GRCm39) E258G possibly damaging Het
Rgl2 T C 17: 34,153,964 (GRCm39) F457L possibly damaging Het
Rsf1 GGCGGCGGC GGCGGCGGCCGCGGCGGC 7: 97,229,122 (GRCm39) probably benign Het
Senp8 T C 9: 59,644,478 (GRCm39) N226S probably benign Het
Six5 C T 7: 18,828,901 (GRCm39) R114C probably damaging Het
Slc10a1 T C 12: 81,004,958 (GRCm39) T195A probably benign Het
Slpi G T 2: 164,197,467 (GRCm39) Q51K probably benign Het
Smarca4 T C 9: 21,570,256 (GRCm39) V753A probably benign Het
Tbc1d32 C A 10: 56,074,537 (GRCm39) M225I probably benign Het
Tent5a C A 9: 85,208,770 (GRCm39) G18C probably benign Het
Tnfrsf21 G A 17: 43,348,558 (GRCm39) V57I probably benign Het
Trim44 G T 2: 102,177,313 (GRCm39) P336T possibly damaging Het
Txlnb A G 10: 17,703,633 (GRCm39) I264V probably damaging Het
Xirp2 A C 2: 67,343,826 (GRCm39) E2022D probably benign Het
Zfp975 A G 7: 42,311,036 (GRCm39) *526R probably null Het
Zp1 A G 19: 10,893,933 (GRCm39) L424P 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
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
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
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'- GCCACGTGATTCATAAGTATGTC -3'
(R):5'- TTAGTGAGATCCCTCCGCACAC -3'

Sequencing Primer
(F):5'- GTCTTGTATGACTAATGTGTTCCTC -3'
(R):5'- ACTCAGGAGCTCGCCATC -3'
Posted On 2019-06-26