Mutagenetix > Incidental Mutation

Incidental Mutation 'R3787:Tro'

272351

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

040754-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R3787 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

149428300-149440579 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 149438048 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 203 (T203I)

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

probably benign
Transcript: ENSMUST00000087253
AA Change: T203I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000084508
Gene: ENSMUSG00000025272
AA Change: T203I

Domain	Start	End	E-Value	Type
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: T203I

SMART Domains

Protein: ENSMUSP00000084513
Gene: ENSMUSG00000025272
AA Change: T203I

Domain	Start	End	E-Value	Type
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: T203I

SMART Domains

Protein: ENSMUSP00000108329
Gene: ENSMUSG00000025272
AA Change: T203I

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000148604
AA Change: T203I

PolyPhen 2 Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000116905
Gene: ENSMUSG00000025272
AA Change: T203I

Domain	Start	End	E-Value	Type
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: T203I

SMART Domains

Protein: ENSMUSP00000120457
Gene: ENSMUSG00000025272
AA Change: T203I

Domain	Start	End	E-Value	Type
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: T203I

SMART Domains

Protein: ENSMUSP00000126054
Gene: ENSMUSG00000025272
AA Change: T203I

Domain	Start	End	E-Value	Type
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: ENSMUST00000171775

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165192

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169450

Predicted Effect

probably benign
Transcript: ENSMUST00000164071

SMART Domains

Protein: ENSMUSP00000126042
Gene: ENSMUSG00000025272

Domain	Start	End	E-Value	Type
Pfam:MAGE	54	223	7.1e-61	PFAM
low complexity region	252	266	N/A	INTRINSIC

Meta Mutation Damage Score

0.1267

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	G	T	5: 139,441,197 (GRCm39)	P35Q	probably damaging	Het
Aoc1	T	C	6: 48,882,589 (GRCm39)	L177P	probably damaging	Het
Aprt	T	C	8: 123,302,268 (GRCm39)	D65G	probably benign	Het
Auh	C	A	13: 53,083,493 (GRCm39)	R62L	possibly damaging	Het
Bmp4	C	T	14: 46,623,171 (GRCm39)		probably null	Het
Bptf	C	A	11: 106,964,653 (GRCm39)	D1514Y	probably damaging	Het
Carmil3	T	C	14: 55,734,433 (GRCm39)	F418S	probably damaging	Het
Ccdc112	C	T	18: 46,432,365 (GRCm39)	R72H	probably benign	Het
Ccdc138	T	C	10: 58,374,092 (GRCm39)	Y371H	probably damaging	Het
Chsy3	T	C	18: 59,542,070 (GRCm39)	Y403H	probably damaging	Het
Cul4a	T	C	8: 13,183,668 (GRCm39)	V352A	probably damaging	Het
Dennd3	T	C	15: 73,419,426 (GRCm39)	V739A	possibly damaging	Het
Dmxl1	G	A	18: 49,998,189 (GRCm39)	S763N	probably damaging	Het
Dmxl2	T	C	9: 54,277,162 (GRCm39)	D2893G	probably damaging	Het
Dnah8	A	G	17: 30,974,015 (GRCm39)	D2800G	probably damaging	Het
Dnaja2	C	T	8: 86,267,015 (GRCm39)	G281R	probably damaging	Het
Exo1	A	G	1: 175,727,035 (GRCm39)	T449A	probably benign	Het
Fancd2	T	G	6: 113,542,165 (GRCm39)	S770A	probably damaging	Het
Fmo1	A	T	1: 162,657,583 (GRCm39)	S519R	possibly damaging	Het
Fryl	T	C	5: 73,258,819 (GRCm39)	Y655C	probably benign	Het
Gpt2	G	T	8: 86,252,202 (GRCm39)	V506L	probably benign	Het
Heatr1	G	T	13: 12,449,341 (GRCm39)	L1946F	probably damaging	Het
Inpp5k	T	C	11: 75,538,512 (GRCm39)	L461P	probably damaging	Het
Magi2	C	T	5: 20,670,907 (GRCm39)	T580M	probably damaging	Het
Mcm9	A	G	10: 53,492,076 (GRCm39)	V415A	possibly damaging	Het
Mki67	A	T	7: 135,302,012 (GRCm39)	N1007K	possibly damaging	Het
Mpped1	A	T	15: 83,680,784 (GRCm39)		probably benign	Het
Mtpap	T	C	18: 4,380,670 (GRCm39)	V116A	probably damaging	Het
Myo15a	A	T	11: 60,368,398 (GRCm39)	Y386F	probably damaging	Het
Neurod1	T	A	2: 79,284,939 (GRCm39)	N148I	probably damaging	Het
Nfs1	A	G	2: 155,970,503 (GRCm39)	I270T	possibly damaging	Het
Nr1i3	A	G	1: 171,041,994 (GRCm39)	D26G	probably damaging	Het
Nsa2	G	T	13: 97,272,042 (GRCm39)	Q60K	possibly damaging	Het
Or13a28	G	A	7: 140,217,748 (GRCm39)	V45I	probably benign	Het
Or8g32	T	C	9: 39,305,678 (GRCm39)	V197A	probably benign	Het
Pde4dip	G	T	3: 97,622,868 (GRCm39)	P1447Q	possibly damaging	Het
Plxna2	A	G	1: 194,326,242 (GRCm39)	T59A	probably benign	Het
Pmepa1	G	A	2: 173,069,926 (GRCm39)	R210W	probably damaging	Het
Ppp1r12c	G	A	7: 4,489,583 (GRCm39)	A193V	probably damaging	Het
Pramel48	T	A	5: 95,630,756 (GRCm39)	L211Q	probably damaging	Het
Prdm15	G	T	16: 97,598,945 (GRCm39)	H904Q	probably benign	Het
Rala	T	A	13: 18,057,031 (GRCm39)	E185V	probably benign	Het
Reep1	T	A	6: 71,772,199 (GRCm39)	D162E	probably damaging	Het
Rev3l	T	A	10: 39,722,206 (GRCm39)	L2528Q	probably damaging	Het
Rfc1	A	T	5: 65,453,357 (GRCm39)	S264T	probably benign	Het
Sall4	A	G	2: 168,598,043 (GRCm39)	S266P	probably damaging	Het
Sipa1l2	C	T	8: 126,149,944 (GRCm39)	A1602T	probably benign	Het
Sipa1l2	C	A	8: 126,177,122 (GRCm39)	C1164F	possibly damaging	Het
Slc4a1ap	T	A	5: 31,685,483 (GRCm39)	L254I	possibly damaging	Het
Slc5a3	A	G	16: 91,874,816 (GRCm39)	N291S	possibly damaging	Het
Stab2	T	A	10: 86,805,141 (GRCm39)	D279V	possibly damaging	Het
Synrg	T	C	11: 83,892,746 (GRCm39)	F613S	probably damaging	Het
Tekt1	A	G	11: 72,235,720 (GRCm39)	I376T	probably damaging	Het
Thbs4	T	C	13: 92,909,672 (GRCm39)	N375S	probably benign	Het
Txnl4b	C	T	8: 110,299,409 (GRCm39)	A123V	probably damaging	Het
Vmn1r63	T	A	7: 5,805,751 (GRCm39)	M294L	probably benign	Het
Vmn2r58	C	T	7: 41,513,498 (GRCm39)	D382N	probably benign	Het
Wap	G	A	11: 6,588,550 (GRCm39)	Q25*	probably null	Het

Other mutations in Tro

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R3840:Tro	UTSW	X	149,429,198 (GRCm39)	intron	probably benign
R4001:Tro	UTSW	X	149,438,198 (GRCm39)	missense	probably benign	0.09
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'- TGTCTGCTAGATGCCTCAATG -3'
(R):5'- GGTATCCCTAACTGGCAGTGAG -3'

Sequencing Primer
(F):5'- AATGGCATTTGAGGCCTC -3'
(R):5'- TGAGGATGCCACTACACAGCTG -3'

Posted On

2015-03-25