Mutagenetix > Incidental Mutation

Incidental Mutation 'R1567:Adgrg5'

175349

Institutional Source

Beutler Lab

Gene Symbol

Adgrg5

Ensembl Gene

ENSMUSG00000061577

Gene Name

adhesion G protein-coupled receptor G5

Synonyms

Gpr114, PGR27, LOC382045

MMRRC Submission

039606-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1567 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

95650322-95669908 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 95664326 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 312 (V312E)

Ref Sequence

ENSEMBL: ENSMUSP00000132628 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074570] [ENSMUST00000128308] [ENSMUST00000153448] [ENSMUST00000166802]

AlphaFold

Q3V3Z3

Predicted Effect

probably benign
Transcript: ENSMUST00000074570
AA Change: V311E

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000074155
Gene: ENSMUSG00000061577
AA Change: V311E

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	87	95	N/A	INTRINSIC
GPS	181	234	4.7e-13	SMART
Pfam:7tm_2	240	494	2.1e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128308

SMART Domains

Protein: ENSMUSP00000120217
Gene: ENSMUSG00000061577

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	83	91	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142991

Predicted Effect

probably benign
Transcript: ENSMUST00000153448

SMART Domains

Protein: ENSMUSP00000122780
Gene: ENSMUSG00000061577

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000166802
AA Change: V312E

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000132628
Gene: ENSMUSG00000061577
AA Change: V312E

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	87	95	N/A	INTRINSIC
GPS	181	234	1.37e-14	SMART
Pfam:7tm_2	241	495	1.3e-36	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 91.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the adhesion family of G-protein coupled receptors. Members of this family are characterized by long N-termini and multiple functional domains. They may play a role in the immune system as well as in the central nervous system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	G	A	7: 120,030,352 (GRCm39)	V155I	probably benign	Het
Actrt2	T	C	4: 154,751,371 (GRCm39)	Q255R	possibly damaging	Het
Adar	A	T	3: 89,643,088 (GRCm39)	H323L	probably benign	Het
Anapc1	T	C	2: 128,459,636 (GRCm39)	T1808A	probably damaging	Het
Aox3	C	A	1: 58,233,852 (GRCm39)	A1285E	probably damaging	Het
Arhgap40	T	A	2: 158,388,719 (GRCm39)	L551Q	probably damaging	Het
Blk	A	G	14: 63,618,178 (GRCm39)	S243P	probably damaging	Het
Cfap206	G	T	4: 34,716,490 (GRCm39)	A325E	probably benign	Het
Cimap1b	C	A	15: 89,261,981 (GRCm39)	R137L	probably benign	Het
Cnn3	A	T	3: 121,243,607 (GRCm39)	K23*	probably null	Het
Cog8	G	A	8: 107,780,740 (GRCm39)	R173*	probably null	Het
Col11a1	G	A	3: 113,932,261 (GRCm39)	R880H	unknown	Het
Cyp2c40	T	C	19: 39,792,215 (GRCm39)	Q243R	probably null	Het
Dcbld1	A	G	10: 52,195,752 (GRCm39)	E391G	probably damaging	Het
Dchs1	C	A	7: 105,421,068 (GRCm39)	A451S	probably benign	Het
Ddx43	A	G	9: 78,323,991 (GRCm39)	K441E	probably damaging	Het
Depdc1a	A	T	3: 159,228,177 (GRCm39)	I310F	possibly damaging	Het
Dnah17	C	T	11: 118,016,811 (GRCm39)	V247M	probably damaging	Het
Dtd1	G	T	2: 144,588,945 (GRCm39)	G201V	probably damaging	Het
Eif1ad3	A	T	12: 87,843,754 (GRCm39)	I134F	unknown	Het
Enoph1	G	A	5: 100,208,884 (GRCm39)	G80S	probably benign	Het
Fam76a	A	T	4: 132,645,039 (GRCm39)	Y48*	probably null	Het
Fut9	T	G	4: 25,620,344 (GRCm39)	T157P	probably damaging	Het
Gm57859	T	A	11: 113,578,728 (GRCm39)	V41D	probably damaging	Het
Gtpbp1	T	C	15: 79,596,391 (GRCm39)	I310T	probably damaging	Het
Hk3	T	A	13: 55,154,418 (GRCm39)	I753F	probably damaging	Het
Hnrnpl	G	T	7: 28,519,608 (GRCm39)	A419S	possibly damaging	Het
Ighv5-6	T	C	12: 113,589,528 (GRCm39)		probably benign	Het
Itpkb	A	G	1: 180,249,423 (GRCm39)	T933A	probably benign	Het
Kcnn2	T	G	18: 45,803,401 (GRCm39)		probably null	Het
Klra3	G	C	6: 130,310,107 (GRCm39)	R138G	probably benign	Het
Lmcd1	C	T	6: 112,287,526 (GRCm39)	R71C	probably damaging	Het
Mrgprb1	A	T	7: 48,097,201 (GRCm39)	V237E	probably damaging	Het
Mybl1	T	A	1: 9,755,976 (GRCm39)	E191V	probably damaging	Het
Nbas	T	A	12: 13,335,279 (GRCm39)	F158I	possibly damaging	Het
Nbr1	C	G	11: 101,466,037 (GRCm39)	L748V	probably damaging	Het
Nlrp10	G	A	7: 108,526,257 (GRCm39)	T27M	probably benign	Het
Notch3	G	A	17: 32,377,554 (GRCm39)	T174I	possibly damaging	Het
Nup85	T	A	11: 115,459,224 (GRCm39)	I109K	possibly damaging	Het
Or10h28	A	G	17: 33,488,450 (GRCm39)	I251V	probably benign	Het
Or2b28	A	T	13: 21,531,595 (GRCm39)	I166L	probably benign	Het
Or2n1e	A	G	17: 38,586,459 (GRCm39)	I266V	possibly damaging	Het
Or4c12b	T	C	2: 89,647,528 (GRCm39)	L280P	probably damaging	Het
Or4k48	G	T	2: 111,476,271 (GRCm39)	Q24K	possibly damaging	Het
Or5b105	T	C	19: 13,080,006 (GRCm39)	T221A	probably benign	Het
Phf2	T	C	13: 48,985,589 (GRCm39)	K64E	unknown	Het
Polr2a	T	C	11: 69,636,857 (GRCm39)	T365A	probably benign	Het
Prkcd	A	G	14: 30,329,405 (GRCm39)	C12R	probably benign	Het
Ptprq	T	C	10: 107,401,748 (GRCm39)	I1915V	probably benign	Het
Rcbtb2	G	A	14: 73,399,902 (GRCm39)	V112I	probably benign	Het
Rxfp3	A	G	15: 11,036,187 (GRCm39)	V395A	probably benign	Het
Ryr2	C	A	13: 11,774,563 (GRCm39)	G1198C	possibly damaging	Het
Scn1a	T	A	2: 66,103,675 (GRCm39)	I1851F	probably damaging	Het
Selenop	A	G	15: 3,309,180 (GRCm39)	*377W	probably null	Het
Sema4a	A	T	3: 88,359,353 (GRCm39)	C113S	probably damaging	Het
Sf3b1	C	G	1: 55,058,554 (GRCm39)	E12Q	possibly damaging	Het
Speg	T	C	1: 75,404,691 (GRCm39)	S2575P	probably benign	Het
Stk24	T	A	14: 121,545,468 (GRCm39)	I97L	probably benign	Het
Tap2	A	G	17: 34,433,065 (GRCm39)	K449R	probably benign	Het
Tecpr2	T	A	12: 110,908,030 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,727,955 (GRCm39)		probably benign	Het
Uggt2	A	G	14: 119,246,505 (GRCm39)	F1204L	possibly damaging	Het
Ugt2b36	T	C	5: 87,240,258 (GRCm39)	I42M	probably damaging	Het
Zdhhc8	A	G	16: 18,044,984 (GRCm39)	L274P	probably benign	Het
Zfp974	C	A	7: 27,610,148 (GRCm39)	D526Y	probably damaging	Het

Other mutations in Adgrg5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01340:Adgrg5	APN	8	95,664,257 (GRCm39)	missense	probably damaging	1.00
IGL02617:Adgrg5	APN	8	95,660,610 (GRCm39)	missense	probably benign	0.01
R0483:Adgrg5	UTSW	8	95,660,136 (GRCm39)	missense	possibly damaging	0.73
R0539:Adgrg5	UTSW	8	95,665,260 (GRCm39)	missense	probably damaging	1.00
R0580:Adgrg5	UTSW	8	95,663,972 (GRCm39)	critical splice donor site	probably null
R0650:Adgrg5	UTSW	8	95,660,785 (GRCm39)	critical splice donor site	probably null
R0652:Adgrg5	UTSW	8	95,660,785 (GRCm39)	critical splice donor site	probably null
R0828:Adgrg5	UTSW	8	95,668,413 (GRCm39)	splice site	probably null
R1546:Adgrg5	UTSW	8	95,668,258 (GRCm39)	missense	probably benign	0.27
R1695:Adgrg5	UTSW	8	95,664,373 (GRCm39)	missense	probably damaging	1.00
R1753:Adgrg5	UTSW	8	95,668,680 (GRCm39)	missense	possibly damaging	0.65
R1852:Adgrg5	UTSW	8	95,664,428 (GRCm39)	missense	probably damaging	1.00
R2018:Adgrg5	UTSW	8	95,661,108 (GRCm39)	missense	probably damaging	1.00
R2051:Adgrg5	UTSW	8	95,668,695 (GRCm39)	missense	probably benign	0.01
R2190:Adgrg5	UTSW	8	95,660,579 (GRCm39)	missense	probably damaging	1.00
R2299:Adgrg5	UTSW	8	95,665,204 (GRCm39)	missense	possibly damaging	0.88
R2568:Adgrg5	UTSW	8	95,660,649 (GRCm39)	missense	probably damaging	0.99
R4283:Adgrg5	UTSW	8	95,664,326 (GRCm39)	missense	probably benign	0.21
R4512:Adgrg5	UTSW	8	95,660,652 (GRCm39)	missense	possibly damaging	0.90
R4825:Adgrg5	UTSW	8	95,668,362 (GRCm39)	missense	possibly damaging	0.77
R5422:Adgrg5	UTSW	8	95,660,580 (GRCm39)	missense	probably damaging	1.00
R5427:Adgrg5	UTSW	8	95,661,730 (GRCm39)	missense	probably benign	0.27
R6186:Adgrg5	UTSW	8	95,660,652 (GRCm39)	missense	possibly damaging	0.90
R6522:Adgrg5	UTSW	8	95,668,696 (GRCm39)	missense	probably benign	0.13
R6608:Adgrg5	UTSW	8	95,668,348 (GRCm39)	missense	probably damaging	1.00
R6810:Adgrg5	UTSW	8	95,660,570 (GRCm39)	missense	probably damaging	0.97
R6816:Adgrg5	UTSW	8	95,668,311 (GRCm39)	missense	probably damaging	0.99
R7214:Adgrg5	UTSW	8	95,660,646 (GRCm39)	missense
R7686:Adgrg5	UTSW	8	95,664,430 (GRCm39)	missense
R7955:Adgrg5	UTSW	8	95,664,325 (GRCm39)	missense
R9383:Adgrg5	UTSW	8	95,661,162 (GRCm39)	missense
R9653:Adgrg5	UTSW	8	95,663,864 (GRCm39)	missense
R9729:Adgrg5	UTSW	8	95,668,133 (GRCm39)	missense
X0027:Adgrg5	UTSW	8	95,663,966 (GRCm39)	missense	probably benign	0.07
Z1176:Adgrg5	UTSW	8	95,661,779 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- AACACTGTGGCAGCCATTAGGTC -3'
(R):5'- CAGCACCTTGTACCCTGGAAGTTC -3'

Sequencing Primer
(F):5'- GGCAGCCATTAGGTCCCTTC -3'
(R):5'- TGGAAGTTCCAGAGACCAGTG -3'

Posted On

2014-04-24