Mutagenetix > Incidental Mutation

Incidental Mutation 'R7970:Gprin3'

650552

Institutional Source

Beutler Lab

Gene Symbol

Gprin3

Ensembl Gene

ENSMUSG00000045441

Gene Name

GPRIN family member 3

Synonyms

C030038J10Rik

MMRRC Submission

046013-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R7970 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59324211-59403279 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 59330150 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 719 (R719Q)

Ref Sequence

ENSEMBL: ENSMUSP00000051805 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051065]

AlphaFold

Q8BWS5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051065
AA Change: R719Q

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000051805
Gene: ENSMUSG00000045441
AA Change: R719Q

Domain	Start	End	E-Value	Type
low complexity region	52	63	N/A	INTRINSIC
low complexity region	311	329	N/A	INTRINSIC
low complexity region	593	609	N/A	INTRINSIC
Pfam:GRIN_C	627	758	2.7e-49	PFAM

Meta Mutation Damage Score

0.1077

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat1	A	G	4: 49,449,266 (GRCm39)	F167L	probably damaging	Het
Acsbg2	A	G	17: 57,156,728 (GRCm39)	Y437H	probably benign	Het
Amotl2	C	T	9: 102,600,968 (GRCm39)	T345I	probably benign	Het
Anapc2	T	C	2: 25,163,299 (GRCm39)	S179P	possibly damaging	Het
Aopep	A	G	13: 63,180,974 (GRCm39)	N312S	probably benign	Het
Arhgef1	G	A	7: 24,616,306 (GRCm39)	D317N	probably damaging	Het
Arrdc4	G	A	7: 68,390,820 (GRCm39)	P307S	probably damaging	Het
B3gnt2	T	C	11: 22,786,255 (GRCm39)	Y311C	probably damaging	Het
Brf1	T	C	12: 112,927,820 (GRCm39)	D453G	probably damaging	Het
Clpsl2	G	A	17: 28,769,702 (GRCm39)	G55R	probably damaging	Het
Dao	AGG	AG	5: 114,153,270 (GRCm39)		probably benign	Het
Dst	G	T	1: 34,221,828 (GRCm39)	C2544F	possibly damaging	Het
Efhc1	C	T	1: 21,022,019 (GRCm39)	T21M	probably benign	Het
Efs	A	G	14: 55,157,960 (GRCm39)		probably null	Het
Elp1	A	T	4: 56,771,466 (GRCm39)	Y944N	probably damaging	Het
Evl	C	T	12: 108,647,783 (GRCm39)	R295*	probably null	Het
Fam171a2	A	T	11: 102,328,692 (GRCm39)	V689E	possibly damaging	Het
Fam184a	T	C	10: 53,575,421 (GRCm39)	T63A	probably damaging	Het
Fam186a	T	C	15: 99,831,467 (GRCm39)	D2897G	unknown	Het
Fbxw11	T	G	11: 32,672,101 (GRCm39)	S224A	probably benign	Het
Flnc	G	T	6: 29,447,525 (GRCm39)	E1109D	possibly damaging	Het
Foxn4	A	G	5: 114,401,068 (GRCm39)		probably null	Het
Gm19410	A	G	8: 36,282,801 (GRCm39)	E2009G	probably benign	Het
Gm9958	A	G	5: 90,515,568 (GRCm39)		probably benign	Het
Grip2	A	T	6: 91,763,513 (GRCm39)	I147N	probably benign	Het
H2-DMb2	A	G	17: 34,369,572 (GRCm39)	R239G	probably benign	Het
Hydin	A	C	8: 111,035,723 (GRCm39)	D138A	probably damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,321,113 (GRCm39)		probably benign	Het
Lgr6	A	G	1: 134,921,723 (GRCm39)	I484T	probably benign	Het
Mkrn2	T	A	6: 115,594,269 (GRCm39)	C327S	probably damaging	Het
Mnt	C	T	11: 74,733,036 (GRCm39)	A288V	probably damaging	Het
Nckap5	T	A	1: 125,952,758 (GRCm39)	K1265*	probably null	Het
Ncoa3	A	T	2: 165,893,277 (GRCm39)	H194L	probably benign	Het
Ogn	A	T	13: 49,762,742 (GRCm39)	H28L	probably benign	Het
Or56a41	C	A	7: 104,740,556 (GRCm39)	V97L	probably benign	Het
Or5b101	T	A	19: 13,005,058 (GRCm39)	I212F	probably damaging	Het
Or9m1b	A	T	2: 87,836,169 (GRCm39)	F309I	probably benign	Het
Pclo	T	C	5: 14,764,492 (GRCm39)	S1037P		Het
Phlpp1	T	A	1: 106,101,015 (GRCm39)	Y428N	probably damaging	Het
Ptpre	A	G	7: 135,280,048 (GRCm39)	T591A	possibly damaging	Het
Rtn1	A	T	12: 72,355,648 (GRCm39)	D99E	probably benign	Het
Scn7a	A	T	2: 66,506,173 (GRCm39)	I1572N	probably damaging	Het
Sema3a	T	A	5: 13,649,375 (GRCm39)	M708K	possibly damaging	Het
Slc12a4	G	A	8: 106,678,237 (GRCm39)	R319W	possibly damaging	Het
Slc9a2	T	C	1: 40,765,374 (GRCm39)	Y255H	probably damaging	Het
Spock3	T	C	8: 63,798,749 (GRCm39)	F254L	probably damaging	Het
St6gal1	G	A	16: 23,176,585 (GRCm39)	A393T	probably benign	Het
St6galnac2	T	C	11: 116,581,169 (GRCm39)	D51G	probably benign	Het
Stard13	T	A	5: 150,986,726 (GRCm39)	K261N	possibly damaging	Het
Tlk1	T	C	2: 70,582,644 (GRCm39)	R162G	possibly damaging	Het
Tlr2	T	C	3: 83,745,201 (GRCm39)	D294G	probably benign	Het
Tnks	A	G	8: 35,323,080 (GRCm39)		probably null	Het
Trip4	A	G	9: 65,746,298 (GRCm39)	S533P	probably damaging	Het
Ttc3	T	A	16: 94,258,223 (GRCm39)	W1674R	probably damaging	Het
Tut4	G	A	4: 108,343,651 (GRCm39)	S221N	probably benign	Het
Vmn2r114	T	C	17: 23,530,186 (GRCm39)	N74D	probably benign	Het
Zdbf2	T	C	1: 63,343,330 (GRCm39)	Y570H	possibly damaging	Het

Other mutations in Gprin3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00970:Gprin3	APN	6	59,330,822 (GRCm39)	missense	possibly damaging	0.72
IGL02059:Gprin3	APN	6	59,332,310 (GRCm39)	utr 5 prime	probably benign
IGL02080:Gprin3	APN	6	59,331,176 (GRCm39)	missense	possibly damaging	0.91
IGL02183:Gprin3	APN	6	59,330,147 (GRCm39)	missense	possibly damaging	0.87
IGL02267:Gprin3	APN	6	59,331,458 (GRCm39)	missense	probably benign	0.02
IGL02801:Gprin3	APN	6	59,331,966 (GRCm39)	missense	possibly damaging	0.53
IGL03212:Gprin3	APN	6	59,332,013 (GRCm39)	missense	probably benign
creep	UTSW	6	59,330,372 (GRCm39)	missense	probably damaging	0.98
simplex	UTSW	6	59,331,545 (GRCm39)	missense	possibly damaging	0.72
viridae	UTSW	6	59,331,921 (GRCm39)	missense	possibly damaging	0.86
R0505:Gprin3	UTSW	6	59,330,372 (GRCm39)	missense	probably damaging	0.98
R0944:Gprin3	UTSW	6	59,330,900 (GRCm39)	missense	possibly damaging	0.72
R1028:Gprin3	UTSW	6	59,331,594 (GRCm39)	missense	possibly damaging	0.53
R1180:Gprin3	UTSW	6	59,331,921 (GRCm39)	missense	possibly damaging	0.86
R1290:Gprin3	UTSW	6	59,331,449 (GRCm39)	missense	possibly damaging	0.53
R2060:Gprin3	UTSW	6	59,331,504 (GRCm39)	missense	possibly damaging	0.73
R2403:Gprin3	UTSW	6	59,331,134 (GRCm39)	missense	probably benign	0.13
R3830:Gprin3	UTSW	6	59,330,618 (GRCm39)	missense	probably benign	0.12
R3893:Gprin3	UTSW	6	59,331,464 (GRCm39)	missense	probably benign	0.12
R3983:Gprin3	UTSW	6	59,331,545 (GRCm39)	missense	possibly damaging	0.72
R4812:Gprin3	UTSW	6	59,330,350 (GRCm39)	missense	possibly damaging	0.85
R4932:Gprin3	UTSW	6	59,331,158 (GRCm39)	missense	probably benign	0.33
R4944:Gprin3	UTSW	6	59,331,644 (GRCm39)	missense	probably benign	0.00
R5523:Gprin3	UTSW	6	59,330,931 (GRCm39)	nonsense	probably null
R5677:Gprin3	UTSW	6	59,330,877 (GRCm39)	missense	possibly damaging	0.73
R5772:Gprin3	UTSW	6	59,331,398 (GRCm39)	missense	possibly damaging	0.86
R5879:Gprin3	UTSW	6	59,331,698 (GRCm39)	missense	probably benign
R5881:Gprin3	UTSW	6	59,331,771 (GRCm39)	missense	probably benign	0.18
R6044:Gprin3	UTSW	6	59,330,657 (GRCm39)	missense	possibly damaging	0.72
R6272:Gprin3	UTSW	6	59,330,316 (GRCm39)	nonsense	probably null
R7140:Gprin3	UTSW	6	59,332,128 (GRCm39)	missense	possibly damaging	0.85
R7528:Gprin3	UTSW	6	59,331,017 (GRCm39)	missense	possibly damaging	0.85
R7891:Gprin3	UTSW	6	59,330,696 (GRCm39)	missense	probably benign	0.22
R8129:Gprin3	UTSW	6	59,330,844 (GRCm39)	missense	probably benign	0.03
R8190:Gprin3	UTSW	6	59,331,456 (GRCm39)	missense	possibly damaging	0.73
R8291:Gprin3	UTSW	6	59,331,990 (GRCm39)	missense	possibly damaging	0.47
R8466:Gprin3	UTSW	6	59,331,467 (GRCm39)	missense	probably benign	0.33
R8466:Gprin3	UTSW	6	59,331,466 (GRCm39)	missense	possibly damaging	0.73
R9135:Gprin3	UTSW	6	59,330,273 (GRCm39)	missense	probably benign	0.05
R9182:Gprin3	UTSW	6	59,331,197 (GRCm39)	missense	probably benign	0.02
R9762:Gprin3	UTSW	6	59,331,236 (GRCm39)	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- GAAATCCAAACGTCTAAGCTTTGAC -3'
(R):5'- CAGACTCCAAGCTGCATCTG -3'

Sequencing Primer
(F):5'- CGTCTAAGCTTTGACACAAATAGAC -3'
(R):5'- CATCTGAAACAGTCCAAGCGAGTG -3'

Posted On

2020-09-15