Incidental Mutation 'R7961:Tmem200a'
ID 650122
Institutional Source Beutler Lab
Gene Symbol Tmem200a
Ensembl Gene ENSMUSG00000049420
Gene Name transmembrane protein 200A
Synonyms C030003D03Rik
MMRRC Submission 046005-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R7961 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 25867080-25955713 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25869904 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 122 (S122P)
Ref Sequence ENSEMBL: ENSMUSP00000064080 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066049] [ENSMUST00000218232] [ENSMUST00000219338] [ENSMUST00000219651] [ENSMUST00000219872]
AlphaFold Q8C817
Predicted Effect probably damaging
Transcript: ENSMUST00000066049
AA Change: S122P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000064080
Gene: ENSMUSG00000049420
AA Change: S122P

DomainStartEndE-ValueType
Pfam:DUF2371 16 161 8.9e-62 PFAM
low complexity region 262 279 N/A INTRINSIC
low complexity region 387 401 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000218232
AA Change: S122P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000219338
AA Change: S122P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000219651
AA Change: S122P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000219872
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 94% (44/47)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T A 5: 8,878,870 (GRCm39) N751K possibly damaging Het
Bckdha G A 7: 25,330,903 (GRCm39) R288W probably damaging Het
Ccng1 G A 11: 40,642,096 (GRCm39) H229Y probably benign Het
Cenpn C A 8: 117,663,976 (GRCm39) T256N probably benign Het
Ciart A G 3: 95,788,629 (GRCm39) V70A possibly damaging Het
Clcc1 A G 3: 108,568,774 (GRCm39) N36S probably damaging Het
Cntnap1 G A 11: 101,069,121 (GRCm39) A192T probably benign Het
Dmrt1 T A 19: 25,523,245 (GRCm39) S199T possibly damaging Het
Dmrt3 T C 19: 25,588,272 (GRCm39) V37A possibly damaging Het
Dock1 T A 7: 134,346,786 (GRCm39) D239E possibly damaging Het
Dyrk3 A G 1: 131,063,995 (GRCm39) probably null Het
Engase A G 11: 118,377,686 (GRCm39) D571G possibly damaging Het
Gm45871 C T 18: 90,609,883 (GRCm39) H374Y probably damaging Het
Icam5 T C 9: 20,950,051 (GRCm39) V870A possibly damaging Het
Idh2 T C 7: 79,748,001 (GRCm39) H233R probably benign Het
Kcna5 A G 6: 126,510,517 (GRCm39) L537P probably benign Het
Krt71 T C 15: 101,643,877 (GRCm39) I454V probably damaging Het
Krtap5-4 C T 7: 141,857,671 (GRCm39) Q114* probably null Het
Loxl3 T C 6: 83,027,790 (GRCm39) F734S possibly damaging Het
Lpcat1 C T 13: 73,659,498 (GRCm39) T420I probably damaging Het
Mia2 T A 12: 59,206,425 (GRCm39) probably null Het
Neurod4 A T 10: 130,106,356 (GRCm39) V306D possibly damaging Het
Nkiras2 A T 11: 100,510,628 (GRCm39) probably benign Het
Nrp2 C T 1: 62,784,567 (GRCm39) R239C probably damaging Het
Ntrk3 T A 7: 78,103,076 (GRCm39) D408V probably benign Het
Nubpl T A 12: 52,228,080 (GRCm39) L168* probably null Het
Odf1 A G 15: 38,226,840 (GRCm39) I247V unknown Het
Or4c35 A G 2: 89,808,131 (GRCm39) Q3R probably benign Het
Or4k48 G A 2: 111,476,282 (GRCm39) S20F probably damaging Het
Or5d41 C A 2: 88,055,033 (GRCm39) M114I possibly damaging Het
Pcsk1 T C 13: 75,274,958 (GRCm39) S516P probably benign Het
Pikfyve A G 1: 65,294,293 (GRCm39) D1411G probably damaging Het
Polm T C 11: 5,780,155 (GRCm39) D294G possibly damaging Het
Ppcs A T 4: 119,276,262 (GRCm39) S281T probably benign Het
Pramel34 T C 5: 93,784,543 (GRCm39) D307G probably damaging Het
Pspc1 G A 14: 57,009,304 (GRCm39) Q177* probably null Het
Rbm33 G A 5: 28,599,606 (GRCm39) G185R Het
Satb2 A G 1: 56,910,917 (GRCm39) S243P probably benign Het
Serinc5 T C 13: 92,797,699 (GRCm39) probably null Het
Sgsm1 T C 5: 113,430,510 (GRCm39) T292A probably damaging Het
Smad3 G A 9: 63,557,564 (GRCm39) R420C possibly damaging Het
Sntg1 C T 1: 8,433,794 (GRCm39) V486I probably damaging Het
Tep1 A G 14: 51,061,687 (GRCm39) S2610P possibly damaging Het
Tnks2 T A 19: 36,829,901 (GRCm39) M194K probably benign Het
Trav14d-3-dv8 A C 14: 53,316,224 (GRCm39) Q28P probably damaging Het
Trpm5 T C 7: 142,634,106 (GRCm39) E700G probably benign Het
Ubqln3 T A 7: 103,791,797 (GRCm39) I98L probably benign Het
Usp25 A G 16: 76,856,150 (GRCm39) I248V probably damaging Het
Vmn1r28 T C 6: 58,242,178 (GRCm39) V7A probably benign Het
Zfp60 G A 7: 27,447,881 (GRCm39) G183D probably benign Het
Other mutations in Tmem200a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01098:Tmem200a APN 10 25,870,041 (GRCm39) missense probably damaging 0.98
IGL02323:Tmem200a APN 10 25,869,328 (GRCm39) missense probably benign 0.12
IGL02702:Tmem200a APN 10 25,869,501 (GRCm39) missense probably damaging 1.00
IGL03221:Tmem200a APN 10 25,869,922 (GRCm39) missense possibly damaging 0.54
R0467:Tmem200a UTSW 10 25,870,002 (GRCm39) missense probably benign 0.09
R1169:Tmem200a UTSW 10 25,870,246 (GRCm39) missense probably damaging 1.00
R1543:Tmem200a UTSW 10 25,954,518 (GRCm39) unclassified probably benign
R1555:Tmem200a UTSW 10 25,869,782 (GRCm39) missense probably damaging 1.00
R1630:Tmem200a UTSW 10 25,868,812 (GRCm39) missense probably damaging 1.00
R1693:Tmem200a UTSW 10 25,869,877 (GRCm39) missense possibly damaging 0.94
R1786:Tmem200a UTSW 10 25,869,825 (GRCm39) missense probably damaging 1.00
R1891:Tmem200a UTSW 10 25,869,970 (GRCm39) missense probably damaging 1.00
R2113:Tmem200a UTSW 10 25,869,220 (GRCm39) missense probably damaging 1.00
R2260:Tmem200a UTSW 10 25,869,313 (GRCm39) missense probably benign
R3793:Tmem200a UTSW 10 25,870,087 (GRCm39) missense probably damaging 1.00
R5062:Tmem200a UTSW 10 25,869,813 (GRCm39) missense probably damaging 1.00
R5178:Tmem200a UTSW 10 25,870,277 (GRCm39) missense probably benign 0.02
R5195:Tmem200a UTSW 10 25,954,854 (GRCm39) unclassified probably benign
R5208:Tmem200a UTSW 10 25,870,051 (GRCm39) missense probably benign 0.00
R6045:Tmem200a UTSW 10 25,868,905 (GRCm39) missense probably damaging 1.00
R6319:Tmem200a UTSW 10 25,869,393 (GRCm39) missense probably damaging 1.00
R6552:Tmem200a UTSW 10 25,869,381 (GRCm39) missense probably damaging 1.00
R7797:Tmem200a UTSW 10 25,869,864 (GRCm39) missense possibly damaging 0.95
R7989:Tmem200a UTSW 10 25,869,955 (GRCm39) missense probably benign
R8009:Tmem200a UTSW 10 25,869,904 (GRCm39) missense probably damaging 1.00
R8074:Tmem200a UTSW 10 25,868,850 (GRCm39) missense probably damaging 1.00
R9254:Tmem200a UTSW 10 25,869,654 (GRCm39) missense probably damaging 1.00
R9358:Tmem200a UTSW 10 25,869,677 (GRCm39) missense probably benign 0.20
Predicted Primers PCR Primer
(F):5'- TGCTCCTTGAGTCTCAGAGTG -3'
(R):5'- CACGAGCAGATGTTGTGGTG -3'

Sequencing Primer
(F):5'- CTCAGAGTGTGGATGTCGATGAC -3'
(R):5'- GTCCGTGGGAAAATCCGACTTTATTC -3'
Posted On 2020-09-15