Incidental Mutation 'R2185:Matr3'
ID 237848
Institutional Source Beutler Lab
Gene Symbol Matr3
Ensembl Gene ENSMUSG00000037236
Gene Name matrin 3
Synonyms D030046F20Rik, 2810017I02Rik, 1110061A14Rik
MMRRC Submission 040187-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # R2185 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 35695191-35726888 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35714278 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 75 (Y75C)
Ref Sequence ENSEMBL: ENSMUSP00000141135 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166793] [ENSMUST00000186614] [ENSMUST00000186796] [ENSMUST00000187389] [ENSMUST00000187793] [ENSMUST00000188275] [ENSMUST00000188767] [ENSMUST00000190653] [ENSMUST00000190029] [ENSMUST00000190121] [ENSMUST00000189163] [ENSMUST00000189039]
AlphaFold Q8K310
Predicted Effect probably damaging
Transcript: ENSMUST00000166793
AA Change: Y413C

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000125761
Gene: ENSMUSG00000037236
AA Change: Y413C

DomainStartEndE-ValueType
low complexity region 23 32 N/A INTRINSIC
low complexity region 52 65 N/A INTRINSIC
low complexity region 69 85 N/A INTRINSIC
ZnF_U1 288 322 4.47e-6 SMART
ZnF_C2H2 291 315 2.12e1 SMART
low complexity region 351 361 N/A INTRINSIC
low complexity region 371 386 N/A INTRINSIC
RRM 399 469 7.74e-3 SMART
RRM 497 567 5.63e-9 SMART
low complexity region 650 675 N/A INTRINSIC
low complexity region 710 718 N/A INTRINSIC
ZnF_U1 797 832 1.87e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186158
Predicted Effect probably benign
Transcript: ENSMUST00000186614
SMART Domains Protein: ENSMUSP00000141189
Gene: ENSMUSG00000037236

DomainStartEndE-ValueType
low complexity region 23 32 N/A INTRINSIC
low complexity region 52 65 N/A INTRINSIC
low complexity region 69 85 N/A INTRINSIC
ZnF_U1 288 322 2.6e-8 SMART
ZnF_C2H2 291 315 8.8e-2 SMART
low complexity region 351 361 N/A INTRINSIC
low complexity region 371 386 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000186796
AA Change: Y75C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000140128
Gene: ENSMUSG00000037236
AA Change: Y75C

DomainStartEndE-ValueType
low complexity region 13 23 N/A INTRINSIC
low complexity region 33 48 N/A INTRINSIC
RRM 61 131 3.2e-5 SMART
RRM 159 229 2.4e-11 SMART
low complexity region 312 337 N/A INTRINSIC
low complexity region 372 380 N/A INTRINSIC
ZnF_U1 459 494 1.1e-10 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000187389
AA Change: Y413C

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000139745
Gene: ENSMUSG00000037236
AA Change: Y413C

DomainStartEndE-ValueType
low complexity region 23 32 N/A INTRINSIC
low complexity region 52 65 N/A INTRINSIC
low complexity region 69 85 N/A INTRINSIC
ZnF_U1 288 322 4.47e-6 SMART
ZnF_C2H2 291 315 2.12e1 SMART
low complexity region 351 361 N/A INTRINSIC
low complexity region 371 386 N/A INTRINSIC
RRM 399 469 7.74e-3 SMART
RRM 497 567 5.63e-9 SMART
low complexity region 650 675 N/A INTRINSIC
low complexity region 710 718 N/A INTRINSIC
ZnF_U1 797 832 1.87e-8 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000187793
AA Change: Y75C

PolyPhen 2 Score 0.621 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000140047
Gene: ENSMUSG00000099703
AA Change: Y75C

DomainStartEndE-ValueType
low complexity region 13 23 N/A INTRINSIC
SCOP:d1lvk_2 42 78 4e-3 SMART
PDB:1X4D|A 52 102 4e-30 PDB
Blast:RRM 61 102 1e-22 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000188275
AA Change: Y125C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140401
Gene: ENSMUSG00000037236
AA Change: Y125C

DomainStartEndE-ValueType
low complexity region 63 73 N/A INTRINSIC
low complexity region 83 98 N/A INTRINSIC
RRM 111 181 3.2e-5 SMART
RRM 209 279 2.4e-11 SMART
low complexity region 362 387 N/A INTRINSIC
low complexity region 422 430 N/A INTRINSIC
ZnF_U1 509 544 1.1e-10 SMART
Predicted Effect unknown
Transcript: ENSMUST00000188767
AA Change: I72M
SMART Domains Protein: ENSMUSP00000141027
Gene: ENSMUSG00000037236
AA Change: I72M

DomainStartEndE-ValueType
low complexity region 13 23 N/A INTRINSIC
low complexity region 33 48 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000190653
AA Change: Y75C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000141135
Gene: ENSMUSG00000037236
AA Change: Y75C

DomainStartEndE-ValueType
low complexity region 13 23 N/A INTRINSIC
low complexity region 33 48 N/A INTRINSIC
RRM 61 131 3.2e-5 SMART
RRM 159 229 2.4e-11 SMART
low complexity region 312 337 N/A INTRINSIC
low complexity region 372 380 N/A INTRINSIC
ZnF_U1 459 494 1.1e-10 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000190029
AA Change: Y413C

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140846
Gene: ENSMUSG00000037236
AA Change: Y413C

DomainStartEndE-ValueType
low complexity region 23 32 N/A INTRINSIC
low complexity region 52 65 N/A INTRINSIC
low complexity region 69 85 N/A INTRINSIC
ZnF_U1 288 322 4.47e-6 SMART
ZnF_C2H2 291 315 2.12e1 SMART
low complexity region 351 361 N/A INTRINSIC
low complexity region 371 386 N/A INTRINSIC
RRM 399 469 7.74e-3 SMART
RRM 497 567 5.63e-9 SMART
low complexity region 650 675 N/A INTRINSIC
low complexity region 710 718 N/A INTRINSIC
ZnF_U1 797 832 1.87e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000190121
AA Change: Y75C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000140853
Gene: ENSMUSG00000037236
AA Change: Y75C

DomainStartEndE-ValueType
low complexity region 13 23 N/A INTRINSIC
low complexity region 33 48 N/A INTRINSIC
RRM 61 131 3.2e-5 SMART
RRM 159 229 2.4e-11 SMART
low complexity region 312 337 N/A INTRINSIC
low complexity region 372 380 N/A INTRINSIC
ZnF_U1 459 494 1.1e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189019
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193225
Predicted Effect probably benign
Transcript: ENSMUST00000189163
Predicted Effect probably benign
Transcript: ENSMUST00000189039
SMART Domains Protein: ENSMUSP00000139525
Gene: ENSMUSG00000037236

DomainStartEndE-ValueType
ZnF_U1 36 70 2.6e-8 SMART
ZnF_C2H2 39 63 8.8e-2 SMART
low complexity region 99 109 N/A INTRINSIC
Meta Mutation Damage Score 0.1947 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (48/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear matrix protein, which is proposed to stabilize certain messenger RNA species. Mutations of this gene are associated with distal myopathy 2, which often includes vocal cord and pharyngeal weakness. Alternatively spliced transcript variants, including read-through transcripts composed of the upstream small nucleolar RNA host gene 4 (non-protein coding) and matrin 3 gene sequence, have been identified. Pseudogenes of this gene are located on chromosomes 1 and X. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for a gene-trapped allele are early embryonic lethal. Heterozygotes show congenital heart defects including abnormal heart apex morphology, subaortic ventricular septal defects, double-outlet right ventricle, bicuspid aortic valve, aorta coarctation, and patent ductus arteriosus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T C 5: 138,561,829 (GRCm39) D119G probably damaging Het
Abca1 A G 4: 53,089,830 (GRCm39) M427T probably benign Het
Ankra2 T C 13: 98,402,912 (GRCm39) F53S probably damaging Het
Ano3 T C 2: 110,605,390 (GRCm39) E272G probably benign Het
Aqr C T 2: 113,961,015 (GRCm39) probably null Het
Ccdc168 G A 1: 44,100,541 (GRCm39) H186Y probably benign Het
Cibar1 A T 4: 12,169,041 (GRCm39) probably benign Het
Clca4b T C 3: 144,634,317 (GRCm39) Y92C probably damaging Het
Crebbp A T 16: 3,902,002 (GRCm39) N2374K probably damaging Het
Cspg4 A T 9: 56,794,256 (GRCm39) I664L probably benign Het
Ctnnd1 A T 2: 84,442,892 (GRCm39) D626E probably damaging Het
Dnai3 A G 3: 145,772,619 (GRCm39) S476P possibly damaging Het
Eml2 A G 7: 18,927,953 (GRCm39) Y254C probably damaging Het
Gabrr3 T C 16: 59,255,031 (GRCm39) S239P probably damaging Het
Gen1 T C 12: 11,311,041 (GRCm39) T64A probably null Het
Gm14399 C A 2: 174,973,188 (GRCm39) C189F probably damaging Het
Gm9476 T G 10: 100,143,040 (GRCm39) noncoding transcript Het
Kcnh5 A T 12: 75,177,705 (GRCm39) F134I possibly damaging Het
Kdm4b G C 17: 56,700,750 (GRCm39) A474P probably benign Het
Kif2b TTCTCTCTCT TTCTCTCT 11: 91,467,797 (GRCm39) probably null Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lrrc28 C T 7: 67,195,201 (GRCm39) R203Q possibly damaging Het
Lrrc8e G T 8: 4,284,986 (GRCm39) E404* probably null Het
Macf1 A T 4: 123,369,349 (GRCm39) M239K probably damaging Het
Mamdc4 A G 2: 25,459,704 (GRCm39) probably null Het
Myo19 T C 11: 84,783,047 (GRCm39) V187A probably benign Het
Ncbp2 A G 16: 31,775,195 (GRCm39) D116G probably damaging Het
Or1d2 A T 11: 74,255,572 (GRCm39) I26F probably benign Het
Or4p8 A C 2: 88,727,047 (GRCm39) V298G probably damaging Het
Or56a3 T A 7: 104,735,509 (GRCm39) D195E possibly damaging Het
Or9g3 T C 2: 85,590,363 (GRCm39) Y119C probably damaging Het
Pkd1l3 T A 8: 110,359,827 (GRCm39) M894K possibly damaging Het
Prpf8 C T 11: 75,377,939 (GRCm39) R8* probably null Het
Prss12 T A 3: 123,280,793 (GRCm39) S493T probably benign Het
Ptov1 T G 7: 44,516,707 (GRCm39) probably benign Het
Rfpl4 A T 7: 5,118,499 (GRCm39) L24M probably damaging Het
Rundc1 C A 11: 101,316,157 (GRCm39) D76E probably benign Het
Slc5a11 G T 7: 122,872,421 (GRCm39) A673S probably damaging Het
Smg5 T C 3: 88,258,868 (GRCm39) M613T probably benign Het
Swt1 T A 1: 151,260,219 (GRCm39) H677L probably damaging Het
Tas2r107 T C 6: 131,636,566 (GRCm39) N161S probably damaging Het
Trp73 A T 4: 154,189,274 (GRCm39) probably null Het
Tsr1 A G 11: 74,792,906 (GRCm39) I405V probably damaging Het
Ttll4 A G 1: 74,718,988 (GRCm39) T280A possibly damaging Het
Ube2q2 A G 9: 55,102,366 (GRCm39) probably null Het
Usp5 T C 6: 124,794,373 (GRCm39) E769G probably damaging Het
Vmn2r68 T A 7: 84,882,901 (GRCm39) K284* probably null Het
Zfp963 C A 8: 70,195,561 (GRCm39) K297N probably benign Het
Zfp975 C A 7: 42,311,105 (GRCm39) A503S possibly damaging Het
Other mutations in Matr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01396:Matr3 APN 18 35,721,442 (GRCm39) missense probably damaging 1.00
IGL03083:Matr3 APN 18 35,705,471 (GRCm39) missense probably damaging 0.96
IGL03117:Matr3 APN 18 35,705,710 (GRCm39) missense probably damaging 1.00
IGL03163:Matr3 APN 18 35,705,644 (GRCm39) missense probably damaging 0.99
IGL03381:Matr3 APN 18 35,712,078 (GRCm39) splice site probably benign
R0456:Matr3 UTSW 18 35,705,917 (GRCm39) missense probably damaging 1.00
R1136:Matr3 UTSW 18 35,705,948 (GRCm39) missense probably damaging 1.00
R1459:Matr3 UTSW 18 35,717,709 (GRCm39) missense probably benign 0.28
R1850:Matr3 UTSW 18 35,715,110 (GRCm39) missense probably damaging 1.00
R1929:Matr3 UTSW 18 35,721,378 (GRCm39) splice site probably benign
R2366:Matr3 UTSW 18 35,721,448 (GRCm39) missense probably damaging 1.00
R2870:Matr3 UTSW 18 35,705,349 (GRCm39) missense probably benign 0.25
R2870:Matr3 UTSW 18 35,705,349 (GRCm39) missense probably benign 0.25
R2871:Matr3 UTSW 18 35,705,349 (GRCm39) missense probably benign 0.25
R2871:Matr3 UTSW 18 35,705,349 (GRCm39) missense probably benign 0.25
R2872:Matr3 UTSW 18 35,705,349 (GRCm39) missense probably benign 0.25
R2872:Matr3 UTSW 18 35,705,349 (GRCm39) missense probably benign 0.25
R2873:Matr3 UTSW 18 35,705,349 (GRCm39) missense probably benign 0.25
R3908:Matr3 UTSW 18 35,705,894 (GRCm39) missense probably damaging 1.00
R4400:Matr3 UTSW 18 35,716,969 (GRCm39) missense possibly damaging 0.80
R4417:Matr3 UTSW 18 35,705,171 (GRCm39) missense probably damaging 1.00
R4860:Matr3 UTSW 18 35,714,693 (GRCm39) missense probably damaging 1.00
R4860:Matr3 UTSW 18 35,714,693 (GRCm39) missense probably damaging 1.00
R4881:Matr3 UTSW 18 35,705,428 (GRCm39) missense probably damaging 1.00
R4908:Matr3 UTSW 18 35,705,754 (GRCm39) missense probably damaging 0.96
R5084:Matr3 UTSW 18 35,715,135 (GRCm39) missense probably damaging 0.99
R5660:Matr3 UTSW 18 35,705,147 (GRCm39) missense probably damaging 0.99
R5709:Matr3 UTSW 18 35,715,015 (GRCm39) missense probably damaging 1.00
R5779:Matr3 UTSW 18 35,717,575 (GRCm39) missense possibly damaging 0.81
R5876:Matr3 UTSW 18 35,720,791 (GRCm39) missense probably benign
R6392:Matr3 UTSW 18 35,717,894 (GRCm39) missense probably benign 0.07
R7062:Matr3 UTSW 18 35,712,072 (GRCm39) critical splice donor site probably null
R7156:Matr3 UTSW 18 35,705,974 (GRCm39) missense probably damaging 0.98
R7228:Matr3 UTSW 18 35,695,537 (GRCm39) missense unknown
R7389:Matr3 UTSW 18 35,717,638 (GRCm39) missense probably benign
R8940:Matr3 UTSW 18 35,705,640 (GRCm39) missense probably damaging 0.98
R9071:Matr3 UTSW 18 35,705,803 (GRCm39) missense possibly damaging 0.94
R9159:Matr3 UTSW 18 35,712,355 (GRCm39) missense possibly damaging 0.71
R9205:Matr3 UTSW 18 35,720,774 (GRCm39) missense probably benign 0.08
R9587:Matr3 UTSW 18 35,717,876 (GRCm39) missense probably null 0.13
Predicted Primers PCR Primer
(F):5'- GGCTTTATGCTTACTATGTGCTAAG -3'
(R):5'- CCACAGTGTTCAAGCTGAAATTTAC -3'

Sequencing Primer
(F):5'- GCTAAGTATTATATACTGCTGTCTGG -3'
(R):5'- AGTGTTCAAGCTGAAATTTACTTAGG -3'
Posted On 2014-10-02