Mutagenetix > Incidental Mutation

Incidental Mutation 'R2228:Tro'

239895

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

040229-MU

Accession Numbers

Essential gene?

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

Stock #

R2228 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

149428300-149440579 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 149438477 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 60 (M60K)

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: M60K

SMART Domains

Protein: ENSMUSP00000084508
Gene: ENSMUSG00000025272
AA Change: M60K

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: M60K

SMART Domains

Protein: ENSMUSP00000084513
Gene: ENSMUSG00000025272
AA Change: M60K

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: M60K

SMART Domains

Protein: ENSMUSP00000108329
Gene: ENSMUSG00000025272
AA Change: M60K

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

probably benign
Transcript: ENSMUST00000148604
AA Change: M60K

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000116905
Gene: ENSMUSG00000025272
AA Change: M60K

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: M60K

SMART Domains

Protein: ENSMUSP00000120457
Gene: ENSMUSG00000025272
AA Change: M60K

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: M60K

SMART Domains

Protein: ENSMUSP00000126054
Gene: ENSMUSG00000025272
AA Change: M60K

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: 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

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	G	2: 68,559,935 (GRCm39)	T242A	probably benign	Het
Adam24	A	T	8: 41,133,404 (GRCm39)	I291L	probably benign	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Adcy8	C	A	15: 64,694,056 (GRCm39)	R407L	possibly damaging	Het
Aldh3b2	C	T	19: 4,031,133 (GRCm39)	P461S	probably benign	Het
Araf	T	C	X: 20,717,912 (GRCm39)	F144L	probably benign	Het
Atp11b	G	T	3: 35,861,091 (GRCm39)	D193Y	probably damaging	Het
Atp6v1b2	C	A	8: 69,555,411 (GRCm39)		probably null	Het
Bclaf1	T	A	10: 20,215,624 (GRCm39)		probably benign	Het
Cadps	A	G	14: 12,465,935 (GRCm38)	Y987H	probably benign	Het
Capn6	T	G	X: 142,587,785 (GRCm39)	T498P	possibly damaging	Het
Ccdc153	T	A	9: 44,154,314 (GRCm39)	L47Q	probably damaging	Het
Ccdc180	G	T	4: 45,948,856 (GRCm39)		probably null	Het
Cep162	G	T	9: 87,126,384 (GRCm39)	T176K	probably benign	Het
Cpsf2	A	G	12: 101,956,088 (GRCm39)	D297G	probably benign	Het
Entpd8	T	C	2: 24,975,028 (GRCm39)	M453T	probably damaging	Het
Eprs1	T	A	1: 185,099,734 (GRCm39)	L18Q	probably damaging	Het
Fem1b	G	T	9: 62,704,020 (GRCm39)	C413*	probably null	Het
Flrt1	T	A	19: 7,072,723 (GRCm39)	D608V	probably damaging	Het
Fstl5	C	A	3: 76,389,659 (GRCm39)	N285K	probably damaging	Het
Golga1	T	C	2: 38,913,183 (GRCm39)	D543G	probably benign	Het
Hivep2	A	G	10: 14,004,107 (GRCm39)	H235R	probably damaging	Het
Htr2c	G	C	X: 145,977,186 (GRCm39)	W325C	probably damaging	Het
Htr2c	G	T	X: 145,977,188 (GRCm39)	C326F	probably damaging	Het
Ifit1bl2	G	T	19: 34,596,630 (GRCm39)	L329M	possibly damaging	Het
Igsf9b	T	C	9: 27,244,792 (GRCm39)	S920P	probably damaging	Het
Macroh2a1	C	T	13: 56,232,075 (GRCm39)	G235S	probably damaging	Het
Mcm8	T	A	2: 132,662,041 (GRCm39)	I125K	possibly damaging	Het
Micall1	C	T	15: 79,014,036 (GRCm39)	R644W	probably damaging	Het
Myo16	G	A	8: 10,644,905 (GRCm39)	D1746N	possibly damaging	Het
Myo9a	A	G	9: 59,801,463 (GRCm39)	E1887G	probably benign	Het
Nbn	A	G	4: 15,970,904 (GRCm39)	T296A	probably benign	Het
Nckap1l	T	C	15: 103,364,361 (GRCm39)		probably null	Het
Neb	T	C	2: 52,123,007 (GRCm39)	R3734G	probably benign	Het
Nup93	C	T	8: 95,030,819 (GRCm39)	T305I	probably benign	Het
Or5bw2	A	T	7: 6,573,802 (GRCm39)	M271L	probably benign	Het
P2ry4	A	G	X: 99,637,553 (GRCm39)	L115P	probably damaging	Het
Pmepa1	G	A	2: 173,069,926 (GRCm39)	R210W	probably damaging	Het
Ppp1r26	T	C	2: 28,343,798 (GRCm39)	F1143L	possibly damaging	Het
Ppp1r3c	C	A	19: 36,711,098 (GRCm39)	R224L	probably benign	Het
Ptafr	T	G	4: 132,306,691 (GRCm39)	I27R	possibly damaging	Het
Pwwp2b	T	C	7: 138,835,104 (GRCm39)	C182R	probably damaging	Het
Reln	A	G	5: 22,192,076 (GRCm39)	F1455L	possibly damaging	Het
Rufy1	C	T	11: 50,288,611 (GRCm39)		probably null	Het
Samd9l	T	C	6: 3,376,910 (GRCm39)	H117R	probably benign	Het
Sfxn4	C	T	19: 60,839,458 (GRCm39)	G200E	probably damaging	Het
Sipa1l3	T	A	7: 29,077,364 (GRCm39)	K803*	probably null	Het
Smim23	C	A	11: 32,771,870 (GRCm39)	Q65H	probably damaging	Het
Spata18	A	T	5: 73,824,244 (GRCm39)	I156L	possibly damaging	Het
Sppl2b	G	A	10: 80,701,451 (GRCm39)	V389M	probably damaging	Het
Srbd1	T	C	17: 86,292,651 (GRCm39)	I973V	probably damaging	Het
Ssx2ip	C	T	3: 146,123,531 (GRCm39)	P10L	probably damaging	Het
Taf2	A	C	15: 54,928,042 (GRCm39)	D120E	possibly damaging	Het
Tanc1	T	C	2: 59,555,068 (GRCm39)	L42S	probably benign	Het
Tex15	C	A	8: 34,061,265 (GRCm39)	H232N	probably benign	Het
Tg	A	T	15: 66,545,860 (GRCm39)	Q194L	probably damaging	Het
Tnfrsf22	C	T	7: 143,198,513 (GRCm39)		probably null	Het
Ttc38	G	A	15: 85,728,704 (GRCm39)	V219I	probably benign	Het
U2af2	T	C	7: 5,078,672 (GRCm39)	I417T	probably damaging	Het
Ube2r2	C	T	4: 41,174,044 (GRCm39)	H61Y	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn1r113	C	T	7: 20,521,832 (GRCm39)	S208F	probably damaging	Het
Wdr35	A	G	12: 9,024,955 (GRCm39)	K16E	possibly damaging	Het
Wwp1	A	T	4: 19,641,745 (GRCm39)	Y437N	probably damaging	Het
Zdhhc4	A	C	5: 143,306,162 (GRCm39)	W189G	probably damaging	Het
Zfp512	A	T	5: 31,622,919 (GRCm39)	K73N	probably damaging	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
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
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'- TGTAGTGGCATCCTCACTGC -3'
(R):5'- TTCAATGAAATTGTTCAGGAGGGG -3'

Sequencing Primer
(F):5'- CTCACTGCCAGTTAGGGATAC -3'
(R):5'- TTGTTCAGGAGGGGAGGCAAC -3'

Posted On

2014-10-15