Incidental Mutation 'R8787:R3hdm2'
ID 670714
Institutional Source Beutler Lab
Gene Symbol R3hdm2
Ensembl Gene ENSMUSG00000025404
Gene Name R3H domain containing 2
Synonyms 1300003K24Rik
MMRRC Submission 068633-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.548) question?
Stock # R8787 (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 G at 127293521 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 142 (S142A)
Ref Sequence ENSEMBL: ENSMUSP00000069724 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064793] [ENSMUST00000077046] [ENSMUST00000105249] [ENSMUST00000105250] [ENSMUST00000105251] [ENSMUST00000164161] [ENSMUST00000164831] [ENSMUST00000165440] [ENSMUST00000166820] [ENSMUST00000168780] [ENSMUST00000169888] [ENSMUST00000170336]
AlphaFold Q80TM6
Predicted Effect probably damaging
Transcript: ENSMUST00000064793
AA Change: S142A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000069724
Gene: ENSMUSG00000025404
AA Change: S142A

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: S142A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000076303
Gene: ENSMUSG00000025404
AA Change: S142A

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: S142A

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000100884
Gene: ENSMUSG00000025404
AA Change: S142A

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: S142A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000100885
Gene: ENSMUSG00000025404
AA Change: S142A

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: S142A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000100886
Gene: ENSMUSG00000025404
AA Change: S142A

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: S142A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000131007
Gene: ENSMUSG00000025404
AA Change: S142A

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: ENSMUST00000165440
SMART Domains Protein: ENSMUSP00000133118
Gene: ENSMUSG00000025404

DomainStartEndE-ValueType
Pfam:SUZ 17 64 1.4e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000166820
AA Change: S142A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000126608
Gene: ENSMUSG00000025404
AA Change: S142A

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: ENSMUST00000168780
SMART Domains Protein: ENSMUSP00000127872
Gene: ENSMUSG00000025404

DomainStartEndE-ValueType
low complexity region 15 30 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
Predicted Effect probably damaging
Transcript: ENSMUST00000170336
AA Change: S142A

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000128659
Gene: ENSMUSG00000025404
AA Change: S142A

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 0.0767 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (62/63)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C T 11: 9,225,053 (GRCm39) H511Y possibly damaging Het
Acp5 G A 9: 22,038,489 (GRCm39) R271* probably null Het
Adamts20 A T 15: 94,184,294 (GRCm39) V1503E possibly damaging Het
Adra2b A T 2: 127,206,417 (GRCm39) E311D probably benign Het
Aldh18a1 T C 19: 40,546,230 (GRCm39) I556V possibly damaging Het
Alox12 C A 11: 70,144,146 (GRCm39) A116S probably benign Het
Alox5 G T 6: 116,390,102 (GRCm39) A552E probably damaging Het
Angpt1 G T 15: 42,375,780 (GRCm39) L159I probably damaging Het
Atp2b4 CTT CTTTTT 1: 133,629,485 (GRCm39) probably benign Het
Bub1b T A 2: 118,462,305 (GRCm39) L726I probably damaging Het
Ccdc78 A T 17: 26,006,807 (GRCm39) T165S probably benign Het
Ccdc88b T C 19: 6,824,791 (GRCm39) D1323G probably damaging Het
Chek1 A T 9: 36,625,033 (GRCm39) C349* probably null Het
Clec1a A T 6: 129,428,617 (GRCm39) L21Q possibly damaging Het
Col1a1 T C 11: 94,833,634 (GRCm39) V445A possibly damaging Het
Efcab7 A G 4: 99,757,791 (GRCm39) T313A probably null Het
Fads1 T A 19: 10,170,325 (GRCm39) Y288* probably null Het
Fgb T A 3: 82,953,969 (GRCm39) T90S probably benign Het
Glg1 C A 8: 111,888,114 (GRCm39) V1026L probably damaging Het
Hadh T A 3: 131,027,825 (GRCm39) Y313F probably damaging Het
Htr4 A G 18: 62,570,853 (GRCm39) I303V possibly damaging Het
Kcnn3 A G 3: 89,552,757 (GRCm39) D487G possibly damaging Het
L1td1 G A 4: 98,625,814 (GRCm39) V604I probably benign Het
Lao1 A G 4: 118,825,565 (GRCm39) T462A probably damaging Het
Lefty1 C A 1: 180,764,118 (GRCm39) A86E probably damaging Het
Lmx1b T C 2: 33,529,522 (GRCm39) Y79C Het
Lrp2 A G 2: 69,382,745 (GRCm39) C47R probably damaging Het
Mrc2 A T 11: 105,238,465 (GRCm39) N1204I probably benign Het
Ncf1 A C 5: 134,254,145 (GRCm39) Y209* probably null Het
Or14j7 T A 17: 38,235,075 (GRCm39) M206K probably benign Het
Or2ad1 A T 13: 21,326,453 (GRCm39) M258K possibly damaging Het
Or8k33 G A 2: 86,384,297 (GRCm39) T57M probably damaging Het
Oxtr T G 6: 112,466,871 (GRCm39) probably benign Het
Pcdhac1 T C 18: 37,224,942 (GRCm39) V585A probably damaging Het
Pdcd11 T G 19: 47,097,019 (GRCm39) L755R probably damaging Het
Pkhd1 A G 1: 20,358,461 (GRCm39) V2705A probably damaging Het
Plch2 C A 4: 155,070,875 (GRCm39) G1168V probably benign Het
Prpf39 T C 12: 65,089,555 (GRCm39) Y98H possibly damaging Het
Rassf10 T A 7: 112,554,738 (GRCm39) D446E probably benign Het
Rgs13 T C 1: 144,016,482 (GRCm39) Y87C probably damaging Het
Serpinb9h G A 13: 33,588,204 (GRCm39) R263H probably benign Het
Smpd3 G A 8: 106,982,377 (GRCm39) R576C probably damaging Het
Spata31e1 T C 13: 49,938,704 (GRCm39) Y1002C probably damaging Het
Srsf11 A T 3: 157,718,037 (GRCm39) D382E unknown Het
Stpg1 T A 4: 135,261,108 (GRCm39) M306K probably benign Het
Svil C T 18: 5,059,332 (GRCm39) Q696* probably null Het
Syna C T 5: 134,588,723 (GRCm39) M75I probably benign Het
Synj2 T C 17: 6,036,514 (GRCm39) F161S possibly damaging Het
Tek T C 4: 94,738,037 (GRCm39) Y696H probably damaging Het
Tgfbr1 A T 4: 47,405,555 (GRCm39) D386V possibly damaging Het
Tgm4 G T 9: 122,890,910 (GRCm39) G503V probably damaging Het
Tnni3k T C 3: 154,645,691 (GRCm39) E461G probably damaging Het
Tom1l1 A T 11: 90,561,931 (GRCm39) H232Q probably benign Het
Ubqln5 T C 7: 103,778,329 (GRCm39) N165S probably benign Het
Vmn1r24 G A 6: 57,932,958 (GRCm39) L187F probably benign Het
Vmn2r82 C T 10: 79,213,894 (GRCm39) T160I probably damaging Het
Vmn2r96 G T 17: 18,818,250 (GRCm39) G801V probably damaging Het
Vps39 A G 2: 120,172,506 (GRCm39) S176P probably damaging Het
Vsig10 C A 5: 117,472,981 (GRCm39) H191Q probably benign Het
Wtap G A 17: 13,186,488 (GRCm39) S353L possibly damaging Het
Zmym4 T G 4: 126,816,953 (GRCm39) R248S probably benign Het
Zscan10 A G 17: 23,829,011 (GRCm39) S518G probably benign Het
Zscan29 A T 2: 120,996,876 (GRCm39) Y282N 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
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
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'- CCTCACAGAGCTGACAGTAAATG -3'
(R):5'- GTTGTCAACTCGTCAAAACACAG -3'

Sequencing Primer
(F):5'- AATGCCATTCAGGGTTTCATGC -3'
(R):5'- GTCAAAACACAGAAATCTCAATGTG -3'
Posted On 2021-04-30