Incidental Mutation 'R8790:R3hdm2'
ID 670880
Institutional Source Beutler Lab
Gene Symbol R3hdm2
Ensembl Gene ENSMUSG00000025404
Gene Name R3H domain containing 2
Synonyms 1300003K24Rik
MMRRC Submission 068634-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.548) question?
Stock # R8790 (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: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (83/83)
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik G A 10: 78,928,285 (GRCm39) P68S possibly damaging Het
Abcb5 T A 12: 118,831,620 (GRCm39) N1244I possibly damaging Het
Abcb9 A G 5: 124,215,304 (GRCm39) I479T probably damaging Het
Abi3bp A T 16: 56,495,437 (GRCm39) I920F probably damaging Het
Adcy6 T A 15: 98,496,881 (GRCm39) T465S probably damaging Het
Ankrd12 A T 17: 66,290,153 (GRCm39) I1760N possibly damaging Het
Aoah C T 13: 21,035,840 (GRCm39) R140C probably benign Het
Bmp7 T A 2: 172,712,060 (GRCm39) D388V probably benign Het
Bphl C T 13: 34,244,468 (GRCm39) A195V probably benign Het
Cckar A G 5: 53,857,291 (GRCm39) V373A probably damaging Het
Cd79b T G 11: 106,202,873 (GRCm39) D243A possibly damaging Het
Cdc25a T A 9: 109,716,416 (GRCm39) probably null Het
Cfap57 T A 4: 118,439,111 (GRCm39) Q805L possibly damaging Het
Ckap2l A T 2: 129,111,172 (GRCm39) M675K possibly damaging Het
Cluap1 T A 16: 3,735,787 (GRCm39) probably benign Het
Cyp2b9 A G 7: 25,898,167 (GRCm39) probably benign Het
D930020B18Rik G A 10: 121,503,568 (GRCm39) G248S possibly damaging Het
Ddx1 A T 12: 13,273,993 (GRCm39) I570N probably damaging Het
Dmkn G A 7: 30,463,449 (GRCm39) S34N probably benign Het
Dnaaf2 T C 12: 69,244,068 (GRCm39) D331G probably damaging Het
Dnah1 A T 14: 31,018,232 (GRCm39) Y1429N possibly damaging Het
Dnajc5b T A 3: 19,600,981 (GRCm39) L26Q probably damaging Het
Epb41l1 T G 2: 156,345,722 (GRCm39) F242V possibly damaging Het
Esam A T 9: 37,442,927 (GRCm39) I72F probably benign Het
Fam110a C T 2: 151,812,338 (GRCm39) R144H probably damaging Het
Fam186a T C 15: 99,841,024 (GRCm39) D1740G possibly damaging Het
Fam98a A G 17: 75,854,684 (GRCm39) F42L possibly damaging Het
Fras1 C T 5: 96,903,236 (GRCm39) P3038S probably damaging Het
Gm32742 C A 9: 51,059,140 (GRCm39) G1035C probably damaging Het
Irf5 T A 6: 29,535,026 (GRCm39) probably benign Het
Jam2 T A 16: 84,606,259 (GRCm39) I91K possibly damaging Het
Klhdc3 A G 17: 46,991,626 (GRCm39) probably benign Het
Lgi1 C T 19: 38,289,296 (GRCm39) S215F possibly damaging Het
Lrp1 G A 10: 127,374,946 (GRCm39) T4504I probably damaging Het
Mafa T A 15: 75,619,224 (GRCm39) H183L probably benign Het
Map2 T C 1: 66,477,997 (GRCm39) V1773A probably damaging Het
Mesp1 G A 7: 79,442,825 (GRCm39) R151* probably null Het
Mphosph9 T C 5: 124,453,736 (GRCm39) D192G probably damaging Het
Mthfr C A 4: 148,139,991 (GRCm39) D678E probably benign Het
Myo15a A C 11: 60,367,362 (GRCm39) T41P possibly damaging Het
Myo15a G T 11: 60,378,047 (GRCm39) R185L Het
Myom2 T G 8: 15,169,242 (GRCm39) L1136W probably damaging Het
Naa30 A G 14: 49,418,208 (GRCm39) D316G probably benign Het
Ngef T C 1: 87,405,319 (GRCm39) Q697R probably benign Het
Nin T C 12: 70,067,793 (GRCm39) R1945G Het
Obox8 A T 7: 14,066,908 (GRCm39) Y45* probably null Het
Ocln C T 13: 100,642,727 (GRCm39) V452I probably benign Het
Oog3 T A 4: 143,885,710 (GRCm39) D296V possibly damaging Het
Or5a1 T C 19: 12,097,906 (GRCm39) N57D probably damaging Het
Or5h19 T C 16: 58,856,580 (GRCm39) I173M possibly damaging Het
Or8g4 T A 9: 39,662,204 (GRCm39) I174K probably damaging Het
Or8k35 T C 2: 86,424,278 (GRCm39) K298R possibly damaging Het
Papln T C 12: 83,823,918 (GRCm39) V499A probably benign Het
Paxip1 G T 5: 27,977,078 (GRCm39) P328Q unknown Het
Pcnx2 T C 8: 126,604,306 (GRCm39) H650R probably benign Het
Pcnx3 A T 19: 5,735,206 (GRCm39) V540E possibly damaging Het
Pnpla5 C T 15: 84,002,819 (GRCm39) G255R probably damaging Het
Ppdpf G T 2: 180,829,646 (GRCm39) E34* probably null Het
Pum3 T C 19: 27,394,199 (GRCm39) Y357C probably damaging Het
Rasa3 A T 8: 13,727,391 (GRCm39) probably null Het
Rcor2 T A 19: 7,246,340 (GRCm39) M5K possibly damaging Het
Rere A G 4: 150,593,332 (GRCm39) T309A unknown Het
Ryr1 A T 7: 28,776,297 (GRCm39) I2250N probably damaging Het
Sema6c T C 3: 95,075,341 (GRCm39) V130A probably benign Het
Slc26a9 T A 1: 131,683,155 (GRCm39) S200T probably damaging Het
Slc38a10 A G 11: 120,023,519 (GRCm39) L299P possibly damaging Het
Smim10l1 G T 6: 133,084,848 (GRCm39) V72L unknown Het
Sptbn2 C A 19: 4,782,052 (GRCm39) F430L probably damaging Het
Svep1 T A 4: 58,118,145 (GRCm39) Y859F possibly damaging Het
Svil C A 18: 5,056,098 (GRCm39) Q324K possibly damaging Het
Tgfb1i1 A T 7: 127,852,049 (GRCm39) D377V probably damaging Het
Tmed10 C A 12: 85,390,254 (GRCm39) W203L probably damaging Het
Tmem51 T A 4: 141,765,056 (GRCm39) M1L possibly damaging Het
Tmprss11e A G 5: 86,855,259 (GRCm39) V382A probably benign Het
Tnfrsf13b G T 11: 61,038,350 (GRCm39) R211L possibly damaging Het
Tns3 A G 11: 8,468,273 (GRCm39) V317A probably damaging Het
Top3a G A 11: 60,631,363 (GRCm39) P1000S possibly damaging Het
Traj32 A T 14: 54,423,587 (GRCm39) I10F Het
Trav8-1 T A 14: 53,707,677 (GRCm39) C106S probably damaging Het
Trbv2 A G 6: 41,024,655 (GRCm39) I24V probably benign Het
Ubap2 A G 4: 41,209,351 (GRCm39) probably null Het
Vmn2r97 T A 17: 19,160,472 (GRCm39) C536S probably damaging Het
Zfp879 G T 11: 50,723,429 (GRCm39) C542* probably null Het
Znfx1 C T 2: 166,892,500 (GRCm39) probably benign 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
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'- TTGTCAACTCGTCAAAACACAG -3'

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