Mutagenetix > Incidental Mutation

Incidental Mutation 'R1555:Tpra1'

170220

Institutional Source

Beutler Lab

Gene Symbol

Tpra1

Ensembl Gene

ENSMUSG00000002871

Gene Name

transmembrane protein, adipocyte asscociated 1

Synonyms

Tpra40, 40kDa, Gpr175

MMRRC Submission

039594-MU

Accession Numbers

Essential gene?

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

Stock #

R1555 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88879238-88889216 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88887185 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 175 (N175S)

Ref Sequence

ENSEMBL: ENSMUSP00000145098 (fasta)

Gene Model

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

AlphaFold

Q99MU1

Predicted Effect

probably damaging
Transcript: ENSMUST00000055022
AA Change: N181S

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000063042
Gene: ENSMUSG00000002871
AA Change: N181S

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

possibly damaging
Transcript: ENSMUST00000128790
AA Change: N181S

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000145116
Gene: ENSMUSG00000002871
AA Change: N181S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000129979
AA Change: N175S

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000145368
Gene: ENSMUSG00000002871
AA Change: N175S

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: ENSMUST00000150236
AA Change: N175S

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000145098
Gene: ENSMUSG00000002871
AA Change: N175S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000203648
AA Change: N181S

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000145404
Gene: ENSMUSG00000002871
AA Change: N181S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000203185
AA Change: N181S

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000145168
Gene: ENSMUSG00000002871
AA Change: N181S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000153874
AA Change: N181S

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118017
Gene: ENSMUSG00000002871
AA Change: N181S

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

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: ENSMUST00000203694

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141163

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152045

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151379

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153885

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203155

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144405

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148874

Predicted Effect

probably benign
Transcript: ENSMUST00000152585

Predicted Effect

probably damaging
Transcript: ENSMUST00000204765
AA Change: N181S

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000145050
Gene: ENSMUSG00000002871
AA Change: N181S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204584

Meta Mutation Damage Score

0.3555

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.0%

Validation Efficiency

96% (43/45)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	A	G	11: 105,865,727 (GRCm39)		probably null	Het
Adamts1	T	A	16: 85,594,776 (GRCm39)	T358S	probably benign	Het
Ate1	A	T	7: 130,110,821 (GRCm39)	F169I	probably benign	Het
Cdkl4	T	A	17: 80,851,043 (GRCm39)		probably benign	Het
Clcnkb	T	C	4: 141,139,050 (GRCm39)		probably null	Het
Col6a4	C	T	9: 105,878,085 (GRCm39)	R1964Q	possibly damaging	Het
Dcakd	C	T	11: 102,891,039 (GRCm39)	V17I	probably damaging	Het
Dcdc5	T	G	2: 106,214,480 (GRCm39)		noncoding transcript	Het
Erc2	T	A	14: 27,733,622 (GRCm39)	D557E	probably damaging	Het
Grid2	A	T	6: 64,406,668 (GRCm39)	D676V	possibly damaging	Het
Hebp2	G	T	10: 18,420,163 (GRCm39)	T90K	possibly damaging	Het
Igkv10-96	C	T	6: 68,609,365 (GRCm39)		probably benign	Het
Mier3	T	A	13: 111,844,893 (GRCm39)	N248K	probably damaging	Het
Myo5b	A	T	18: 74,702,853 (GRCm39)	I15F	probably damaging	Het
Neurl3	A	G	1: 36,305,613 (GRCm39)	V198A	probably benign	Het
Notch2	C	A	3: 98,038,656 (GRCm39)	N1266K	possibly damaging	Het
Nup107	A	G	10: 117,587,395 (GRCm39)		probably benign	Het
Or52e8b	T	C	7: 104,673,729 (GRCm39)	I153V	probably benign	Het
Or6d14	A	T	6: 116,533,787 (GRCm39)	I134F	probably damaging	Het
Phf3	G	T	1: 30,844,958 (GRCm39)	H1334N	possibly damaging	Het
Phyhd1	T	A	2: 30,164,718 (GRCm39)	I100N	probably damaging	Het
Rad21l	T	A	2: 151,500,348 (GRCm39)	T224S	probably benign	Het
Rxra	C	T	2: 27,638,690 (GRCm39)	A231V	probably benign	Het
Sac3d1	T	C	19: 6,168,435 (GRCm39)	D61G	probably damaging	Het
Sbf1	A	G	15: 89,189,279 (GRCm39)	Y481H	probably damaging	Het
Spg11	T	C	2: 121,927,858 (GRCm39)	E642G	probably damaging	Het
Spta1	A	G	1: 174,006,315 (GRCm39)	Y159C	probably damaging	Het
Sry	C	G	Y: 2,662,975 (GRCm39)	Q228H	unknown	Het
Tedc1	G	T	12: 113,120,117 (GRCm39)		probably benign	Het
Tmem200a	A	T	10: 25,869,782 (GRCm39)	D162E	probably damaging	Het
Tmprss11e	T	A	5: 86,863,447 (GRCm39)	Q206L	probably damaging	Het
Ttll10	T	C	4: 156,119,596 (GRCm39)	E601G	probably benign	Het
Ttll6	G	T	11: 96,036,408 (GRCm39)	D346Y	probably damaging	Het
U2surp	A	G	9: 95,348,630 (GRCm39)	V874A	probably damaging	Het
Vwa5b1	T	C	4: 138,332,788 (GRCm39)	K258R	probably benign	Het
Xkr6	A	G	14: 64,056,374 (GRCm39)	Y95C	unknown	Het
Zfp180	T	C	7: 23,800,999 (GRCm39)		probably benign	Het
Zfp90	A	G	8: 107,150,727 (GRCm39)	T147A	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGGCTTTGCCCACAAAGGACTC -3'
(R):5'- GTATAAACCTTGGCGTTTTGCCCC -3'

Sequencing Primer
(F):5'- ACTCATCAGGGTCTGAGCTG -3'
(R):5'- AGGGATACACGCTCCTTCAG -3'

Posted On

2014-04-13