Incidental Mutation 'R4001:Tro'
ID 312497
Institutional Source Beutler Lab
Gene Symbol Tro
Ensembl Gene ENSMUSG00000025272
Gene Name trophinin
Synonyms Tnn, magphinin, magphinin-alpha, magphinin-beta 2, magphinin-gamma, trophinin-2, necdin and trophinin like, Maged3l, Maged3, Trol
MMRRC Submission 040844-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R4001 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 149428300-149440579 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 149438198 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 153 (T153I)
Ref Sequence ENSEMBL: ENSMUSP00000116905 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087253] [ENSMUST00000087258] [ENSMUST00000112709] [ENSMUST00000148604] [ENSMUST00000151403] [ENSMUST00000163450] [ENSMUST00000163969] [ENSMUST00000164071]
AlphaFold Q6DIC6
Predicted Effect unknown
Transcript: ENSMUST00000087253
AA Change: T153I
SMART Domains Protein: ENSMUSP00000084508
Gene: ENSMUSG00000025272
AA Change: T153I

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
low complexity region 48 55 N/A INTRINSIC
internal_repeat_2 62 105 5.33e-6 PROSPERO
internal_repeat_1 95 280 8.68e-15 PROSPERO
internal_repeat_2 120 164 5.33e-6 PROSPERO
internal_repeat_1 275 441 8.68e-15 PROSPERO
low complexity region 445 471 N/A INTRINSIC
low complexity region 491 501 N/A INTRINSIC
low complexity region 526 542 N/A INTRINSIC
Pfam:MAGE 596 765 8e-60 PFAM
SCOP:d1gt91_ 780 951 9e-3 SMART
Predicted Effect unknown
Transcript: ENSMUST00000087258
AA Change: T153I
SMART Domains Protein: ENSMUSP00000084513
Gene: ENSMUSG00000025272
AA Change: T153I

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
low complexity region 48 55 N/A INTRINSIC
internal_repeat_3 62 105 6.04e-6 PROSPERO
internal_repeat_2 95 280 2.73e-15 PROSPERO
internal_repeat_3 120 164 6.04e-6 PROSPERO
internal_repeat_2 275 441 2.73e-15 PROSPERO
low complexity region 445 471 N/A INTRINSIC
low complexity region 491 501 N/A INTRINSIC
low complexity region 526 542 N/A INTRINSIC
Pfam:MAGE 596 765 1.6e-58 PFAM
low complexity region 794 810 N/A INTRINSIC
low complexity region 891 1028 N/A INTRINSIC
low complexity region 1057 1073 N/A INTRINSIC
low complexity region 1087 1108 N/A INTRINSIC
low complexity region 1110 1142 N/A INTRINSIC
low complexity region 1144 1155 N/A INTRINSIC
low complexity region 1157 1175 N/A INTRINSIC
internal_repeat_1 1176 1361 9.97e-23 PROSPERO
low complexity region 1393 1409 N/A INTRINSIC
internal_repeat_1 1540 1728 9.97e-23 PROSPERO
low complexity region 1764 1786 N/A INTRINSIC
low complexity region 1790 1815 N/A INTRINSIC
low complexity region 1821 1836 N/A INTRINSIC
low complexity region 1870 1910 N/A INTRINSIC
low complexity region 1915 1931 N/A INTRINSIC
low complexity region 1962 2085 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000112709
AA Change: T153I
SMART Domains Protein: ENSMUSP00000108329
Gene: ENSMUSG00000025272
AA Change: T153I

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
low complexity region 48 55 N/A INTRINSIC
internal_repeat_3 62 105 6.04e-6 PROSPERO
internal_repeat_2 95 280 2.73e-15 PROSPERO
internal_repeat_3 120 164 6.04e-6 PROSPERO
internal_repeat_2 275 441 2.73e-15 PROSPERO
low complexity region 445 471 N/A INTRINSIC
low complexity region 491 501 N/A INTRINSIC
low complexity region 526 542 N/A INTRINSIC
MAGE 596 765 2.03e-90 SMART
low complexity region 794 810 N/A INTRINSIC
low complexity region 891 1028 N/A INTRINSIC
low complexity region 1057 1073 N/A INTRINSIC
low complexity region 1087 1108 N/A INTRINSIC
low complexity region 1110 1142 N/A INTRINSIC
low complexity region 1144 1155 N/A INTRINSIC
low complexity region 1157 1175 N/A INTRINSIC
internal_repeat_1 1176 1361 9.97e-23 PROSPERO
low complexity region 1393 1409 N/A INTRINSIC
internal_repeat_1 1540 1728 9.97e-23 PROSPERO
low complexity region 1764 1786 N/A INTRINSIC
low complexity region 1790 1815 N/A INTRINSIC
low complexity region 1821 1836 N/A INTRINSIC
low complexity region 1870 1910 N/A INTRINSIC
low complexity region 1915 1931 N/A INTRINSIC
low complexity region 1962 2085 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000148604
AA Change: T153I

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000116905
Gene: ENSMUSG00000025272
AA Change: T153I

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
low complexity region 48 55 N/A INTRINSIC
internal_repeat_1 95 280 5.1e-9 PROSPERO
internal_repeat_1 275 441 5.1e-9 PROSPERO
low complexity region 445 471 N/A INTRINSIC
low complexity region 491 501 N/A INTRINSIC
low complexity region 526 542 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000151403
AA Change: T153I
SMART Domains Protein: ENSMUSP00000120457
Gene: ENSMUSG00000025272
AA Change: T153I

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
low complexity region 48 55 N/A INTRINSIC
internal_repeat_1 95 280 6.85e-11 PROSPERO
internal_repeat_1 275 441 6.85e-11 PROSPERO
low complexity region 445 471 N/A INTRINSIC
low complexity region 491 501 N/A INTRINSIC
low complexity region 526 542 N/A INTRINSIC
Pfam:MAGE 596 765 6.3e-60 PFAM
low complexity region 794 808 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163450
Predicted Effect unknown
Transcript: ENSMUST00000163969
AA Change: T153I
SMART Domains Protein: ENSMUSP00000126054
Gene: ENSMUSG00000025272
AA Change: T153I

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
low complexity region 48 55 N/A INTRINSIC
internal_repeat_1 95 280 5.6e-10 PROSPERO
internal_repeat_1 275 441 5.6e-10 PROSPERO
low complexity region 445 471 N/A INTRINSIC
low complexity region 491 501 N/A INTRINSIC
low complexity region 526 542 N/A INTRINSIC
Pfam:MAGE 596 765 5.9e-60 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169450
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171775
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165192
Predicted Effect probably benign
Transcript: ENSMUST00000164071
SMART Domains Protein: ENSMUSP00000126042
Gene: ENSMUSG00000025272

DomainStartEndE-ValueType
Pfam:MAGE 54 223 7.1e-61 PFAM
low complexity region 252 266 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.6%
Validation Efficiency 100% (28/28)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane protein that mediates cell adhesion between trophoblastic cells and the epithelial cells of the endometrium. The encoded protein participates in cell signalling during embryo implantation, and may also be involved in cancer formation. This gene is located near several other closely related genes on chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]
PHENOTYPE: Homozygous female or hemizygous male mice on a mixed 129 and NIH black Swiss background are viable, fertile and elderly mice exhibit no disorders. On an inbred 129 background, homozygous female or hemizygous male mice show partial embryonic lethality between E3.5 and E8.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 C A 8: 111,768,234 (GRCm39) H202N probably damaging Het
Aipl1 T A 11: 71,922,428 (GRCm39) T94S probably damaging Het
Cdhr2 A T 13: 54,866,079 (GRCm39) E293V probably benign Het
Chd9 C T 8: 91,683,185 (GRCm39) R542C probably damaging Het
Clip4 A T 17: 72,106,071 (GRCm39) I85L probably damaging Het
Cntnap5c G A 17: 58,714,735 (GRCm39) probably null Het
Fbn1 A G 2: 125,319,415 (GRCm39) probably null Het
Hivep2 A G 10: 14,003,476 (GRCm39) R25G probably damaging Het
Klhdc7b A G 15: 89,272,187 (GRCm39) N1023S probably damaging Het
Lipi T A 16: 75,370,759 (GRCm39) R153* probably null Het
Lpcat4 A T 2: 112,070,296 (GRCm39) Q3L probably benign Het
Naa16 C A 14: 79,580,561 (GRCm39) probably null Het
Nalcn G T 14: 123,834,006 (GRCm39) N56K probably damaging Het
Obscn C G 11: 59,025,395 (GRCm39) A412P probably damaging Het
Or1e23 A G 11: 73,407,812 (GRCm39) L71P probably damaging Het
Pde8a T A 7: 80,967,104 (GRCm39) L415Q probably damaging Het
Ppp4r3c1 T C X: 88,974,116 (GRCm39) I694V probably benign Het
Rbms2 C T 10: 127,987,169 (GRCm39) S13N probably benign Het
Rgsl1 A G 1: 153,693,330 (GRCm39) L617P probably damaging Het
Sap18b T C 8: 96,552,068 (GRCm39) V26A probably benign Het
Senp2 T C 16: 21,847,318 (GRCm39) L282P possibly damaging Het
Srcap T C 7: 127,131,339 (GRCm39) M826T probably damaging Het
Tmc3 T C 7: 83,269,271 (GRCm39) S820P probably benign Het
Tmprss3 T C 17: 31,405,533 (GRCm39) N353S probably damaging Het
Trp53bp1 A G 2: 121,035,566 (GRCm39) S1562P probably damaging Het
Uaca G A 9: 60,778,366 (GRCm39) V916I probably benign Het
Other mutations in Tro
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00772:Tro APN X 149,438,321 (GRCm39) missense probably benign 0.45
IGL00818:Tro APN X 149,431,357 (GRCm39) missense probably damaging 1.00
IGL03170:Tro APN X 149,438,556 (GRCm39) missense probably benign 0.36
R0022:Tro UTSW X 149,430,508 (GRCm39) intron probably benign
R0049:Tro UTSW X 149,437,565 (GRCm39) missense possibly damaging 0.56
R1378:Tro UTSW X 149,438,567 (GRCm39) missense probably damaging 1.00
R2228:Tro UTSW X 149,438,477 (GRCm39) missense probably benign 0.17
R3080:Tro UTSW X 149,438,198 (GRCm39) missense probably benign 0.09
R3437:Tro UTSW X 149,429,252 (GRCm39) intron probably benign
R3715:Tro UTSW X 149,437,230 (GRCm39) missense probably damaging 1.00
R3783:Tro UTSW X 149,438,048 (GRCm39) missense possibly damaging 0.83
R3787:Tro UTSW X 149,438,048 (GRCm39) missense possibly damaging 0.83
R3840:Tro UTSW X 149,429,198 (GRCm39) intron probably benign
R5449:Tro UTSW X 149,428,966 (GRCm39) intron probably benign
R7112:Tro UTSW X 149,428,852 (GRCm39) intron probably benign
R7909:Tro UTSW X 149,431,620 (GRCm39) intron probably benign
R8811:Tro UTSW X 149,438,555 (GRCm39) missense unknown
R8812:Tro UTSW X 149,438,555 (GRCm39) missense unknown
R8813:Tro UTSW X 149,438,555 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GTGGCTGCTATAGTCTGGATAC -3'
(R):5'- TGTTCACCCAGATCAGTCAGG -3'

Sequencing Primer
(F):5'- GCTGCTATAGTCTGGATACTACCTG -3'
(R):5'- AGTCAGGCTTCAGCTACTACTGAG -3'
Posted On 2015-04-29