Incidental Mutation 'R7349:R3hdm2'
ID 570440
Institutional Source Beutler Lab
Gene Symbol R3hdm2
Ensembl Gene ENSMUSG00000025404
Gene Name R3H domain containing 2
Synonyms 1300003K24Rik
MMRRC Submission 045435-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.577) question?
Stock # R7349 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 127216201-127335253 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 127328515 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 746 (S746P)
Ref Sequence ENSEMBL: ENSMUSP00000069724 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064793] [ENSMUST00000077046] [ENSMUST00000105249] [ENSMUST00000105250] [ENSMUST00000105251] [ENSMUST00000164161] [ENSMUST00000164831] [ENSMUST00000166820] [ENSMUST00000168079] [ENSMUST00000169888] [ENSMUST00000170336]
AlphaFold Q80TM6
Predicted Effect probably benign
Transcript: ENSMUST00000064793
AA Change: S746P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000069724
Gene: ENSMUSG00000025404
AA Change: S746P

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 benign
Transcript: ENSMUST00000077046
AA Change: S791P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000076303
Gene: ENSMUSG00000025404
AA Change: S791P

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
AA Change: S739P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000100884
Gene: ENSMUSG00000025404
AA Change: S739P

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 benign
Transcript: ENSMUST00000105250
AA Change: S773P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000100885
Gene: ENSMUSG00000025404
AA Change: S773P

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: ENSMUST00000105251
AA Change: S773P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000100886
Gene: ENSMUSG00000025404
AA Change: S773P

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 benign
Transcript: ENSMUST00000164831
AA Change: S725P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000131007
Gene: ENSMUSG00000025404
AA Change: S725P

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 benign
Transcript: ENSMUST00000166820
AA Change: S791P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000126608
Gene: ENSMUSG00000025404
AA Change: S791P

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
AA Change: S83P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000130506
Gene: ENSMUSG00000025404
AA Change: S83P

DomainStartEndE-ValueType
low complexity region 43 63 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169888
AA Change: S490P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000126760
Gene: ENSMUSG00000025404
AA Change: S490P

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 probably benign
Transcript: ENSMUST00000170336
AA Change: S759P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000128659
Gene: ENSMUSG00000025404
AA Change: S759P

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: ENSMUST00000171426
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (70/70)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik T A 13: 60,990,717 (GRCm39) T326S possibly damaging Het
Acly A T 11: 100,412,817 (GRCm39) H91Q probably benign Het
Acp3 T A 9: 104,168,657 (GRCm39) I403F probably benign Het
Angpt2 T A 8: 18,742,090 (GRCm39) M489L probably damaging Het
Arap1 T C 7: 101,039,435 (GRCm39) I565T possibly damaging Het
Atg16l2 T C 7: 100,939,473 (GRCm39) D563G probably damaging Het
Atp6v0a2 T A 5: 124,789,392 (GRCm39) Y386* probably null Het
Atp8b4 A G 2: 126,167,265 (GRCm39) V1078A probably benign Het
Bsn T C 9: 107,987,982 (GRCm39) D2590G unknown Het
Casp12 T C 9: 5,345,527 (GRCm39) probably null Het
Ccdc87 T C 19: 4,891,868 (GRCm39) S787P probably damaging Het
Cdh13 A G 8: 119,969,097 (GRCm39) T485A probably damaging Het
Cstdc5 A G 16: 36,184,674 (GRCm39) V23A probably damaging Het
Dip2a T C 10: 76,121,426 (GRCm39) H810R probably damaging Het
Dmbt1 A T 7: 130,642,854 (GRCm39) Y120F unknown Het
Dmgdh C T 13: 93,888,741 (GRCm39) T793I possibly damaging Het
Dnhd1 A G 7: 105,359,330 (GRCm39) D3555G probably damaging Het
Eif4e1b T C 13: 54,932,006 (GRCm39) V30A probably benign Het
Ercc5 T G 1: 44,220,068 (GRCm39) D1113E possibly damaging Het
Fbn1 T C 2: 125,157,321 (GRCm39) N2321D possibly damaging Het
Fbrs T C 7: 127,081,971 (GRCm39) L237P probably damaging Het
Flg2 T A 3: 93,127,513 (GRCm39) S2142T unknown Het
Ftsj3 G A 11: 106,140,572 (GRCm39) T761I probably damaging Het
Gdi2 C A 13: 3,606,395 (GRCm39) T157N probably benign Het
Gm8122 C A 14: 43,088,058 (GRCm39) probably null Het
Gtpbp10 T C 5: 5,605,379 (GRCm39) E108G possibly damaging Het
Hectd4 T C 5: 121,448,726 (GRCm39) L358P probably damaging Het
Herc3 T C 6: 58,835,971 (GRCm39) C271R probably benign Het
Hspb1 C T 5: 135,918,187 (GRCm39) T178M possibly damaging Het
Htr3b C T 9: 48,847,319 (GRCm39) V399M probably benign Het
Hydin A G 8: 111,124,803 (GRCm39) probably null Het
Itpr3 T A 17: 27,326,786 (GRCm39) probably null Het
Iyd G T 10: 3,495,638 (GRCm39) V99F possibly damaging Het
Lrrc36 G A 8: 106,178,900 (GRCm39) G365D probably damaging Het
Map1b T A 13: 99,570,148 (GRCm39) I858F unknown Het
Med12l A T 3: 59,165,746 (GRCm39) D1488V probably damaging Het
Ms4a6c T A 19: 11,455,555 (GRCm39) N121K probably damaging Het
Nlrp1b T G 11: 71,072,943 (GRCm39) Q300P probably benign Het
Nlrp3 G A 11: 59,438,912 (GRCm39) R163H probably damaging Het
Nr4a3 T G 4: 48,051,290 (GRCm39) S15A possibly damaging Het
Optc T G 1: 133,825,617 (GRCm39) D356A probably damaging Het
Or52h7 A G 7: 104,213,857 (GRCm39) H143R probably benign Het
Or9s15 T C 1: 92,524,904 (GRCm39) V221A possibly damaging Het
Pdzd2 C G 15: 12,399,291 (GRCm39) V812L probably damaging Het
Phlpp2 T C 8: 110,655,278 (GRCm39) F691S probably damaging Het
Pigk T C 3: 152,453,238 (GRCm39) F319L probably benign Het
Pkhd1l1 A G 15: 44,378,350 (GRCm39) T1035A probably damaging Het
Plekhg3 A G 12: 76,611,339 (GRCm39) T261A probably benign Het
Plekhm1 A G 11: 103,278,160 (GRCm39) F312S probably damaging Het
Pms2 T A 5: 143,862,654 (GRCm39) I587N probably benign Het
Ppl T A 16: 4,922,593 (GRCm39) H272L probably damaging Het
Prkce G A 17: 86,800,783 (GRCm39) A400T probably benign Het
Ptpn9 T C 9: 56,951,660 (GRCm39) S324P probably benign Het
Ptprk A T 10: 28,468,834 (GRCm39) N1432I possibly damaging Het
Rnf220 G A 4: 117,135,015 (GRCm39) A412V probably damaging Het
Scel G A 14: 103,781,315 (GRCm39) A154T probably benign Het
Sirpb1a A T 3: 15,475,664 (GRCm39) N290K probably damaging Het
Sirpb1c A T 3: 15,886,310 (GRCm39) probably null Het
Sorbs2 A T 8: 46,248,860 (GRCm39) R704* probably null Het
Spast T C 17: 74,680,319 (GRCm39) V427A probably damaging Het
Stxbp4 A T 11: 90,482,937 (GRCm39) probably null Het
Thsd7a C A 6: 12,352,067 (GRCm39) G1043C Het
Tmem205 C T 9: 21,832,410 (GRCm39) C167Y probably damaging Het
Trappc9 A T 15: 72,608,718 (GRCm39) L897* probably null Het
Trim36 A G 18: 46,302,495 (GRCm39) F518L probably benign Het
Ttc12 T G 9: 49,359,267 (GRCm39) T402P possibly damaging Het
Twnk T C 19: 44,998,600 (GRCm39) V506A possibly damaging Het
Vmn2r18 A T 5: 151,485,682 (GRCm39) L604* probably null Het
Wdr83 T C 8: 85,806,460 (GRCm39) N113D possibly damaging Het
Zfp628 G A 7: 4,924,817 (GRCm39) G1013E 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
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
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'- TGAAACAAGTGGGTGGATTTGC -3'
(R):5'- AAGAACCTGGCCTACAAGGG -3'

Sequencing Primer
(F):5'- GCTTGCTGGCTTTTCCATTCAGAG -3'
(R):5'- GTCCAGCCTGGTCTACATAATGAG -3'
Posted On 2019-09-13