Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01810:Tpra1'

155792

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tpra1

Ensembl Gene

ENSMUSG00000002871

Gene Name

transmembrane protein, adipocyte asscociated 1

Synonyms

Tpra40, 40kDa, Gpr175

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

IGL01810

Quality Score

Status

Chromosome

Chromosomal Location

88879238-88889216 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88886324 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 101 (V101A)

Ref Sequence

ENSEMBL: ENSMUSP00000145404 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055022] [ENSMUST00000128790] [ENSMUST00000129979] [ENSMUST00000203648] [ENSMUST00000203185] [ENSMUST00000203345] [ENSMUST00000150236] [ENSMUST00000153874] [ENSMUST00000152585] [ENSMUST00000203694] [ENSMUST00000204765]

AlphaFold

Q99MU1

Predicted Effect

probably damaging
Transcript: ENSMUST00000055022
AA Change: V101A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000063042
Gene: ENSMUSG00000002871
AA Change: V101A

Domain	Start	End	E-Value	Type
Pfam:Tmemb_40	36	311	9.9e-95	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000123257

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128171

SMART Domains

Protein: ENSMUSP00000114865
Gene: ENSMUSG00000002871

Domain	Start	End	E-Value	Type
Pfam:Tmemb_40	1	88	1.5e-31	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000128790
AA Change: V101A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000145116
Gene: ENSMUSG00000002871
AA Change: V101A

Domain	Start	End	E-Value	Type
Pfam:Tmemb_40	36	206	2e-51	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000129979
AA Change: V95A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000145368
Gene: ENSMUSG00000002871
AA Change: V95A

Domain	Start	End	E-Value	Type
Pfam:Tmemb_40	30	211	2e-51	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135778

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138415

Predicted Effect

probably damaging
Transcript: ENSMUST00000203648
AA Change: V101A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000145404
Gene: ENSMUSG00000002871
AA Change: V101A

Domain	Start	End	E-Value	Type
Pfam:Tmemb_40	36	222	6.6e-59	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000203185
AA Change: V101A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000145168
Gene: ENSMUSG00000002871
AA Change: V101A

Domain	Start	End	E-Value	Type
Pfam:Tmemb_40	36	311	9.9e-95	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000203345
AA Change: V101A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144846
Gene: ENSMUSG00000002871
AA Change: V101A

Domain	Start	End	E-Value	Type
Pfam:Tmemb_40	36	170	6.2e-45	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000150236
AA Change: V95A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000145098
Gene: ENSMUSG00000002871
AA Change: V95A

Domain	Start	End	E-Value	Type
Pfam:Tmemb_40	30	212	1.6e-50	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000153874
AA Change: V101A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000118017
Gene: ENSMUSG00000002871
AA Change: V101A

Domain	Start	End	E-Value	Type
Pfam:Tmemb_40	32	162	6.5e-57	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148874

Predicted Effect

probably benign
Transcript: ENSMUST00000152585

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144405

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151379

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152045

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203155

Predicted Effect

probably benign
Transcript: ENSMUST00000203694

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153885

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141163

Predicted Effect

probably damaging
Transcript: ENSMUST00000204765
AA Change: V101A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000145050
Gene: ENSMUSG00000002871
AA Change: V101A

Domain	Start	End	E-Value	Type
Pfam:Tmemb_40	36	311	9.9e-95	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204584

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	G	T	11: 101,308,185 (GRCm39)	Y10*	probably null	Het
Aass	C	A	6: 23,107,633 (GRCm39)	Q383H	probably damaging	Het
Bag1	T	C	4: 40,936,657 (GRCm39)	D333G	probably damaging	Het
Cap2	A	G	13: 46,793,425 (GRCm39)		probably benign	Het
Col27a1	G	T	4: 63,143,868 (GRCm39)	A519S	probably benign	Het
Cr2	A	G	1: 194,841,903 (GRCm39)	V726A	possibly damaging	Het
Csmd2	A	G	4: 128,374,638 (GRCm39)		probably benign	Het
Dennd4c	A	G	4: 86,717,788 (GRCm39)	D595G	possibly damaging	Het
Ercc2	G	T	7: 19,127,374 (GRCm39)	R340L	probably damaging	Het
Espl1	A	G	15: 102,206,640 (GRCm39)	T35A	probably benign	Het
Fndc3a	A	G	14: 72,803,581 (GRCm39)	Y525H	probably benign	Het
Gm4922	T	C	10: 18,659,795 (GRCm39)	Q309R	probably benign	Het
Gm5263	T	C	1: 146,296,292 (GRCm39)		noncoding transcript	Het
Gm6563	A	C	19: 23,653,751 (GRCm39)	R180S	probably damaging	Het
Gpr182	C	A	10: 127,586,733 (GRCm39)	V73F	probably damaging	Het
Gramd1b	C	T	9: 40,227,069 (GRCm39)	R179H	probably damaging	Het
Hk1	C	T	10: 62,188,884 (GRCm39)	A10T	probably benign	Het
Hmgn3	C	A	9: 82,992,437 (GRCm39)		probably benign	Het
Il1b	C	T	2: 129,211,649 (GRCm39)	E24K	probably damaging	Het
Itgb6	G	T	2: 60,458,329 (GRCm39)	Q475K	probably benign	Het
Lrrc74b	A	G	16: 17,363,422 (GRCm39)	S368P	probably benign	Het
Mfsd2b	T	C	12: 4,916,469 (GRCm39)	T234A	possibly damaging	Het
Muc6	A	T	7: 141,237,327 (GRCm39)	Y270N	probably damaging	Het
Naip6	A	G	13: 100,424,603 (GRCm39)		probably benign	Het
Or4b13	A	T	2: 90,082,476 (GRCm39)	Y285*	probably null	Het
Pear1	G	A	3: 87,659,608 (GRCm39)	T742I	probably damaging	Het
Peli2	G	A	14: 48,493,491 (GRCm39)	V238I	probably benign	Het
Pira2	A	G	7: 3,847,611 (GRCm39)	L26P	probably damaging	Het
Pot1b	A	G	17: 55,969,521 (GRCm39)	V549A	possibly damaging	Het
Prdm16	T	C	4: 154,432,384 (GRCm39)	Y295C	probably benign	Het
Ptprd	A	T	4: 76,058,744 (GRCm39)		probably benign	Het
Rap1gap	A	T	4: 137,443,466 (GRCm39)	M145L	probably benign	Het
Setd7	A	T	3: 51,440,388 (GRCm39)		probably benign	Het
Ssx2ip	T	C	3: 146,133,765 (GRCm39)	I258T	probably benign	Het
Stard9	T	C	2: 120,529,565 (GRCm39)	Y1941H	possibly damaging	Het
Stxbp3	T	C	3: 108,707,468 (GRCm39)	E420G	probably benign	Het
Tpx2	G	T	2: 152,726,155 (GRCm39)	Q373H	probably damaging	Het
Ttn	C	T	2: 76,557,352 (GRCm39)	R29914Q	probably damaging	Het
Ubr3	T	C	2: 69,833,809 (GRCm39)		probably null	Het
Usp18	G	A	6: 121,230,730 (GRCm39)	G53D	probably damaging	Het
Vps13c	A	T	9: 67,863,062 (GRCm39)	H3026L	probably benign	Het
Zan	T	C	5: 137,461,888 (GRCm39)	E1097G	unknown	Het

Other mutations in Tpra1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00491:Tpra1	APN	6	88,887,390 (GRCm39)	splice site	probably benign
IGL00819:Tpra1	APN	6	88,886,318 (GRCm39)	nonsense	probably null
IGL01648:Tpra1	APN	6	88,886,653 (GRCm39)	splice site	probably benign
IGL02040:Tpra1	APN	6	88,887,164 (GRCm39)	missense	possibly damaging	0.89
IGL02864:Tpra1	APN	6	88,888,868 (GRCm39)	missense	probably damaging	1.00
R0528:Tpra1	UTSW	6	88,887,372 (GRCm39)	missense	probably benign	0.12
R1555:Tpra1	UTSW	6	88,887,185 (GRCm39)	missense	probably damaging	0.99
R1824:Tpra1	UTSW	6	88,888,805 (GRCm39)	missense	probably benign
R4774:Tpra1	UTSW	6	88,887,661 (GRCm39)	intron	probably benign
R4879:Tpra1	UTSW	6	88,888,691 (GRCm39)	missense	probably damaging	1.00
R6074:Tpra1	UTSW	6	88,888,919 (GRCm39)	missense	possibly damaging	0.93
R7017:Tpra1	UTSW	6	88,885,294 (GRCm39)	missense	probably damaging	1.00
R7097:Tpra1	UTSW	6	88,885,276 (GRCm39)	missense	probably damaging	1.00
R7122:Tpra1	UTSW	6	88,885,276 (GRCm39)	missense	probably damaging	1.00
R7639:Tpra1	UTSW	6	88,887,158 (GRCm39)	missense	probably benign	0.07
R8096:Tpra1	UTSW	6	88,888,699 (GRCm39)	nonsense	probably null
R8975:Tpra1	UTSW	6	88,888,726 (GRCm39)	missense	probably benign
R9434:Tpra1	UTSW	6	88,888,774 (GRCm39)	missense	probably benign	0.17
R9513:Tpra1	UTSW	6	88,887,221 (GRCm39)	missense	probably benign	0.00
R9516:Tpra1	UTSW	6	88,887,221 (GRCm39)	missense	probably benign	0.00
RF012:Tpra1	UTSW	6	88,886,324 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-02-04