Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02864:Tpra1'

362294

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 #

IGL02864

Quality Score

Status

Chromosome

Chromosomal Location

88879238-88889216 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 88888868 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Histidine at position 350 (P350H)

Ref Sequence

ENSEMBL: ENSMUSP00000145050 (fasta)

Gene Model

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

AlphaFold

Q99MU1

Predicted Effect

probably damaging
Transcript: ENSMUST00000055022
AA Change: P350H

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

SMART Domains

Protein: ENSMUSP00000063042
Gene: ENSMUSG00000002871
AA Change: P350H

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

Predicted Effect

probably benign
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 benign
Transcript: ENSMUST00000128790

SMART Domains

Protein: ENSMUSP00000145116
Gene: ENSMUSG00000002871

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

Predicted Effect

probably benign
Transcript: ENSMUST00000129979

SMART Domains

Protein: ENSMUSP00000145368
Gene: ENSMUSG00000002871

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: ENSMUST00000203185
AA Change: P350H

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

SMART Domains

Protein: ENSMUSP00000145168
Gene: ENSMUSG00000002871
AA Change: P350H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000204765
AA Change: P350H

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

SMART Domains

Protein: ENSMUSP00000145050
Gene: ENSMUSG00000002871
AA Change: P350H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153885

Predicted Effect

probably benign
Transcript: ENSMUST00000203694

Predicted Effect

probably benign
Transcript: ENSMUST00000150236

SMART Domains

Protein: ENSMUSP00000145098
Gene: ENSMUSG00000002871

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152045

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203155

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148874

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144405

Predicted Effect

probably benign
Transcript: ENSMUST00000203648

SMART Domains

Protein: ENSMUSP00000145404
Gene: ENSMUSG00000002871

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151379

Predicted Effect

probably benign
Transcript: ENSMUST00000203345

SMART Domains

Protein: ENSMUSP00000144846
Gene: ENSMUSG00000002871

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

Predicted Effect

probably benign
Transcript: ENSMUST00000152585

Predicted Effect

probably benign
Transcript: ENSMUST00000153874

SMART Domains

Protein: ENSMUSP00000118017
Gene: ENSMUSG00000002871

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,937,080 (GRCm39)	R347G	probably damaging	Het
Actl11	G	A	9: 107,806,186 (GRCm39)	A170T	probably benign	Het
Alpk2	T	C	18: 65,440,670 (GRCm39)	D241G	probably benign	Het
Arap2	A	T	5: 62,835,308 (GRCm39)	W745R	probably damaging	Het
Arhgef7	G	A	8: 11,865,247 (GRCm39)	V401I	possibly damaging	Het
Cacna1d	A	G	14: 29,773,663 (GRCm39)	V1709A	probably benign	Het
Ccl20	T	C	1: 83,095,799 (GRCm39)		probably null	Het
Cd209d	C	T	8: 3,927,122 (GRCm39)	V48I	probably benign	Het
Cttnbp2	T	C	6: 18,374,548 (GRCm39)	N1559S	probably benign	Het
Dnah9	T	C	11: 65,951,829 (GRCm39)	Y1890C	probably damaging	Het
Dsel	A	T	1: 111,786,944 (GRCm39)	M1197K	probably damaging	Het
Dtl	A	T	1: 191,288,938 (GRCm39)	S259T	probably benign	Het
Fbxw10	G	A	11: 62,764,349 (GRCm39)	G672D	probably damaging	Het
Fhod1	C	T	8: 106,063,796 (GRCm39)		probably benign	Het
Gstk1	A	G	6: 42,224,687 (GRCm39)	Y135C	possibly damaging	Het
Gtpbp2	G	A	17: 46,476,520 (GRCm39)	C282Y	probably benign	Het
Hapln3	A	T	7: 78,767,812 (GRCm39)	W113R	probably benign	Het
Ifng	A	G	10: 118,278,561 (GRCm39)	Y74C	probably damaging	Het
Kyat1	C	A	2: 30,082,089 (GRCm39)		probably benign	Het
Las1l	A	T	X: 94,991,446 (GRCm39)	D308E	possibly damaging	Het
Mdh1b	T	A	1: 63,760,762 (GRCm39)	T100S	probably benign	Het
Nrap	A	T	19: 56,338,806 (GRCm39)	M810K	probably damaging	Het
Otof	T	C	5: 30,543,685 (GRCm39)	D593G	probably damaging	Het
Pnma5	A	T	X: 72,079,457 (GRCm39)	D408E	probably benign	Het
Pramel46	G	T	5: 95,418,543 (GRCm39)	A151E	possibly damaging	Het
Psen2	T	C	1: 180,073,268 (GRCm39)	T18A	probably benign	Het
Ptk7	A	T	17: 46,883,659 (GRCm39)	V802E	probably damaging	Het
Setd1b	G	A	5: 123,297,002 (GRCm39)		probably benign	Het
Snap91	T	C	9: 86,720,141 (GRCm39)	N132S	possibly damaging	Het
Spag9	A	G	11: 93,997,487 (GRCm39)	H675R	probably damaging	Het
Trim43a	C	T	9: 88,470,165 (GRCm39)	R324C	probably benign	Het
Ttn	T	C	2: 76,566,675 (GRCm39)	I28073V	probably benign	Het
Ttn	G	T	2: 76,767,095 (GRCm39)	H3023Q	probably benign	Het
Vmn1r21	A	G	6: 57,820,661 (GRCm39)	V261A	probably benign	Het
Vwa5b1	G	A	4: 138,336,286 (GRCm39)	P103S	probably benign	Het
Wars1	A	G	12: 108,848,791 (GRCm39)	M52T	probably benign	Het
Zcchc2	C	T	1: 105,943,814 (GRCm39)	H460Y	probably damaging	Het
Zscan12	G	T	13: 21,552,730 (GRCm39)	V185F	probably benign	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
IGL01810:Tpra1	APN	6	88,886,324 (GRCm39)	missense	probably damaging	1.00
IGL02040:Tpra1	APN	6	88,887,164 (GRCm39)	missense	possibly damaging	0.89
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

2015-12-18