Mutagenetix > Incidental Mutation

Incidental Mutation 'R5811:Gpr135'

447525

Institutional Source

Beutler Lab

Gene Symbol

Gpr135

Ensembl Gene

ENSMUSG00000043398

Gene Name

G protein-coupled receptor 135

Synonyms

MMRRC Submission

043213-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.181) question?

Stock #

R5811 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72114748-72117875 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72116641 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 375 (D375E)

Ref Sequence

ENSEMBL: ENSMUSP00000058762 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019862] [ENSMUST00000050649]

AlphaFold

Q7TQP2

Predicted Effect

probably benign
Transcript: ENSMUST00000019862

SMART Domains

Protein: ENSMUSP00000019862
Gene: ENSMUSG00000019718

Domain	Start	End	E-Value	Type
Pfam:Pro_racemase	22	352	8.7e-122	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050649
AA Change: D375E

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000058762
Gene: ENSMUSG00000043398
AA Change: D375E

Domain	Start	End	E-Value	Type
low complexity region	26	44	N/A	INTRINSIC
low complexity region	65	88	N/A	INTRINSIC
Pfam:7tm_1	89	350	7.5e-43	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Btnl1	A	T	17: 34,604,503 (GRCm39)	K428M	probably damaging	Het
Chid1	G	A	7: 141,110,166 (GRCm39)	T53M	probably damaging	Het
Clnk	A	G	5: 38,870,490 (GRCm39)	V356A	probably damaging	Het
Cryba4	C	T	5: 112,398,937 (GRCm39)	V36I	probably benign	Het
Dct	A	G	14: 118,250,600 (GRCm39)	V466A	probably benign	Het
Dnmt3l	A	G	10: 77,887,929 (GRCm39)	D146G	possibly damaging	Het
Epas1	A	G	17: 87,131,203 (GRCm39)	N328D	probably damaging	Het
Fat4	C	T	3: 38,945,936 (GRCm39)	R1610W	probably damaging	Het
Filip1l	T	C	16: 57,390,657 (GRCm39)	V415A	probably damaging	Het
Garnl3	A	G	2: 32,896,911 (GRCm39)	L576P	probably damaging	Het
Gjd3	A	T	11: 98,873,226 (GRCm39)	V206E	possibly damaging	Het
Gsdme	T	A	6: 50,222,925 (GRCm39)	Q130L	probably benign	Het
Hcls1	A	G	16: 36,777,702 (GRCm39)	M274V	probably null	Het
Kcnn4	T	C	7: 24,077,030 (GRCm39)	V193A	probably damaging	Het
Kctd16	T	C	18: 40,391,505 (GRCm39)	V31A	probably damaging	Het
Lamc2	C	T	1: 153,041,999 (GRCm39)	R45Q	possibly damaging	Het
Lrrc66	T	A	5: 73,772,860 (GRCm39)	I203F	possibly damaging	Het
Mark4	T	C	7: 19,182,564 (GRCm39)	D91G	probably damaging	Het
Mcm6	A	T	1: 128,263,465 (GRCm39)		probably benign	Het
Mecom	C	T	3: 30,015,149 (GRCm39)	S602N	probably benign	Het
Muc5ac	T	C	7: 141,352,721 (GRCm39)	V736A	possibly damaging	Het
Nr2e3	TCCATCGGAGTGTTCCC	TC	9: 59,850,701 (GRCm39)		probably benign	Het
Or2h2c	C	A	17: 37,422,649 (GRCm39)	C75F	probably benign	Het
Pdia5	A	T	16: 35,269,790 (GRCm39)	M173K	possibly damaging	Het
Pih1d2	T	C	9: 50,532,374 (GRCm39)	L144P	probably damaging	Het
Plch2	C	T	4: 155,077,024 (GRCm39)	E577K	possibly damaging	Het
Samd4b	T	C	7: 28,107,445 (GRCm39)	S275G	probably damaging	Het
Sap130	T	C	18: 31,822,495 (GRCm39)	V668A	probably benign	Het
Sema3c	T	A	5: 17,880,188 (GRCm39)		probably null	Het
Slc9a8	C	T	2: 167,313,307 (GRCm39)	R390*	probably null	Het
Vmn2r89	A	T	14: 51,693,565 (GRCm39)	N305I	probably benign	Het
Wdr33	T	C	18: 32,035,673 (GRCm39)	F1164L	unknown	Het
Zfp873	T	A	10: 81,896,567 (GRCm39)	C470S	probably damaging	Het

Other mutations in Gpr135

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01458:Gpr135	APN	12	72,116,442 (GRCm39)	missense	probably benign
IGL02059:Gpr135	APN	12	72,116,858 (GRCm39)	missense	possibly damaging	0.87
IGL02219:Gpr135	APN	12	72,117,047 (GRCm39)	missense	probably damaging	1.00
IGL02273:Gpr135	APN	12	72,116,732 (GRCm39)	missense	probably damaging	0.96
R4688:Gpr135	UTSW	12	72,117,720 (GRCm39)	missense	probably benign
R4791:Gpr135	UTSW	12	72,116,642 (GRCm39)	missense	probably benign	0.12
R5001:Gpr135	UTSW	12	72,117,282 (GRCm39)	missense	probably benign	0.10
R5857:Gpr135	UTSW	12	72,117,614 (GRCm39)	missense	probably benign	0.25
R7604:Gpr135	UTSW	12	72,116,641 (GRCm39)	missense	possibly damaging	0.87
R7708:Gpr135	UTSW	12	72,116,733 (GRCm39)	missense	probably benign	0.06
R9367:Gpr135	UTSW	12	72,117,473 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TCTCGGAAGAAGAGCACAAC -3'
(R):5'- CATGATTATCTTTGTCATGTGCTGC -3'

Sequencing Primer
(F):5'- GTTGGAAGAAGGCATCCT -3'
(R):5'- TGCTGGGGTCCCTACTG -3'

Posted On

2016-12-15