Incidental Mutation 'R9706:R3hdm2'
ID 729814
Institutional Source Beutler Lab
Gene Symbol R3hdm2
Ensembl Gene ENSMUSG00000025404
Gene Name R3H domain containing 2
Synonyms 1300003K24Rik
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.577) question?
Stock # R9706 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 127216201-127335253 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127334298 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 907 (D907G)
Ref Sequence ENSEMBL: ENSMUSP00000069724 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035839] [ENSMUST00000064793] [ENSMUST00000077046] [ENSMUST00000105249] [ENSMUST00000105250] [ENSMUST00000105251] [ENSMUST00000160019] [ENSMUST00000160610] [ENSMUST00000164161] [ENSMUST00000164831] [ENSMUST00000166820] [ENSMUST00000168079] [ENSMUST00000169888] [ENSMUST00000170336]
AlphaFold Q80TM6
Predicted Effect probably benign
Transcript: ENSMUST00000035839
SMART Domains Protein: ENSMUSP00000048148
Gene: ENSMUSG00000040287

DomainStartEndE-ValueType
low complexity region 35 46 N/A INTRINSIC
low complexity region 65 81 N/A INTRINSIC
C1 89 139 2.19e-7 SMART
low complexity region 199 213 N/A INTRINSIC
low complexity region 220 238 N/A INTRINSIC
SH3 246 301 1.41e-16 SMART
SH3 305 360 8.45e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000064793
AA Change: D907G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000069724
Gene: ENSMUSG00000025404
AA Change: D907G

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: D952G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000076303
Gene: ENSMUSG00000025404
AA Change: D952G

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: D900G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000100884
Gene: ENSMUSG00000025404
AA Change: D900G

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: D934G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000100885
Gene: ENSMUSG00000025404
AA Change: D934G

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: D934G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000100886
Gene: ENSMUSG00000025404
AA Change: D934G

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: ENSMUST00000160019
SMART Domains Protein: ENSMUSP00000125124
Gene: ENSMUSG00000040287

DomainStartEndE-ValueType
low complexity region 35 46 N/A INTRINSIC
low complexity region 65 81 N/A INTRINSIC
C1 89 139 2.19e-7 SMART
low complexity region 199 213 N/A INTRINSIC
low complexity region 220 238 N/A INTRINSIC
SH3 246 301 1.41e-16 SMART
SH3 305 360 8.45e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000160610
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: D886G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000131007
Gene: ENSMUSG00000025404
AA Change: D886G

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: D952G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000126608
Gene: ENSMUSG00000025404
AA Change: D952G

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
AA Change: D651G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000126760
Gene: ENSMUSG00000025404
AA Change: D651G

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: D920G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000128659
Gene: ENSMUSG00000025404
AA Change: D920G

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: 99.8%
  • 20x: 99.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 G A 8: 41,248,490 (GRCm39) R200H probably benign Het
Atad3a C T 4: 155,834,929 (GRCm39) probably null Het
Atg16l1 T C 1: 87,713,977 (GRCm39) F463L possibly damaging Het
Camsap3 C T 8: 3,658,689 (GRCm39) T1209I possibly damaging Het
Cldn10 T A 14: 119,099,189 (GRCm39) M101K probably damaging Het
Crb2 G A 2: 37,681,215 (GRCm39) G686D probably damaging Het
Creb3 T A 4: 43,565,520 (GRCm39) L209* probably null Het
Crocc C A 4: 140,746,046 (GRCm39) R1855L possibly damaging Het
Decr2 A T 17: 26,302,869 (GRCm39) M169K probably benign Het
Defb22 T C 2: 152,327,820 (GRCm39) T122A unknown Het
Dnaaf6rt A C 1: 31,262,252 (GRCm39) E78A possibly damaging Het
Dnah17 A T 11: 118,017,026 (GRCm39) I238N probably damaging Het
Efcab14 T A 4: 115,625,901 (GRCm39) S457T possibly damaging Het
Ephb3 A T 16: 21,039,193 (GRCm39) I604F probably damaging Het
Fam184a T C 10: 53,575,249 (GRCm39) D120G probably damaging Het
Fcrlb T A 1: 170,735,474 (GRCm39) T267S possibly damaging Het
Gm15446 A T 5: 110,091,161 (GRCm39) Q471L probably damaging Het
H2-Q4 A T 17: 35,599,129 (GRCm39) Y133F probably damaging Het
H2-T24 A T 17: 36,325,735 (GRCm39) H285Q probably benign Het
Hc A C 2: 34,914,196 (GRCm39) V837G probably damaging Het
Hmcn2 G A 2: 31,305,279 (GRCm39) V3151I probably benign Het
Inpp5e T A 2: 26,292,126 (GRCm39) M311L probably benign Het
Inpp5j A G 11: 3,449,960 (GRCm39) F644S possibly damaging Het
Krt79 T G 15: 101,839,196 (GRCm39) E424D probably benign Het
Lingo3 A T 10: 80,670,288 (GRCm39) F547L probably damaging Het
Lrrc47 T G 4: 154,096,487 (GRCm39) L94R probably damaging Het
Lrriq1 A G 10: 102,881,902 (GRCm39) F155S Het
Masp2 A G 4: 148,696,597 (GRCm39) E398G probably benign Het
Mcm3ap C T 10: 76,312,352 (GRCm39) S477L probably damaging Het
Mllt10 T C 2: 18,151,655 (GRCm39) V256A possibly damaging Het
Muc1 T A 3: 89,138,888 (GRCm39) I499K probably benign Het
Nup50 G A 15: 84,811,648 (GRCm39) probably null Het
Or13a21 A T 7: 139,999,266 (GRCm39) I140N probably damaging Het
Or4p20 T A 2: 88,253,779 (GRCm39) M197L probably benign Het
Or52e18 A G 7: 104,609,195 (GRCm39) V248A probably damaging Het
Or5ar1 T A 2: 85,671,658 (GRCm39) H159L probably damaging Het
Pclo A T 5: 14,905,683 (GRCm39) H4971L unknown Het
Pcsk1 G T 13: 75,247,473 (GRCm39) probably null Het
Pik3r5 C A 11: 68,381,426 (GRCm39) T204N probably benign Het
Prrc2b T C 2: 32,107,300 (GRCm39) V1621A probably benign Het
Ptchd4 A G 17: 42,814,806 (GRCm39) *902W probably null Het
R3hdm4 A T 10: 79,752,655 (GRCm39) probably null Het
Rbpms2 C T 9: 65,558,285 (GRCm39) A107V probably benign Het
Rgs14 G A 13: 55,531,934 (GRCm39) E544K probably benign Het
Sacs C T 14: 61,445,822 (GRCm39) Q2623* probably null Het
Sec16b G A 1: 157,378,695 (GRCm39) probably null Het
Spire1 C T 18: 67,636,508 (GRCm39) R386Q probably benign Het
Sqle A T 15: 59,201,625 (GRCm39) Y492F probably damaging Het
Stk38l C T 6: 146,677,104 (GRCm39) T427I probably benign Het
Tbx5 C A 5: 119,979,909 (GRCm39) L152I probably benign Het
Vmn2r101 T C 17: 19,809,925 (GRCm39) M237T probably damaging Het
Vmn2r58 A T 7: 41,510,000 (GRCm39) F526I probably damaging Het
Vwf G A 6: 125,601,536 (GRCm39) R826Q 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
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
R9760:R3hdm2 UTSW 10 127,280,182 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GGAAGGCTCATTCCATCTTTCTG -3'
(R):5'- CTCACAGAGTTGTTGAGGCG -3'

Sequencing Primer
(F):5'- AGGTTGATCTGGGGAGGCTAC -3'
(R):5'- CGAAGGGAGGCGTTCTG -3'
Posted On 2022-10-06