Mutagenetix > Incidental Mutation

Incidental Mutation 'R1290:Gprin3'

150755

Institutional Source

Beutler Lab

Gene Symbol

Gprin3

Ensembl Gene

ENSMUSG00000045441

Gene Name

GPRIN family member 3

Synonyms

C030038J10Rik

MMRRC Submission

039356-MU

Accession Numbers

Essential gene?

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

Stock #

R1290 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59324211-59403279 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59331449 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 286 (F286S)

Ref Sequence

ENSEMBL: ENSMUSP00000051805 (fasta)

Gene Model

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

AlphaFold

Q8BWS5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051065
AA Change: F286S

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000051805
Gene: ENSMUSG00000045441
AA Change: F286S

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfrp1	C	T	2: 181,006,397 (GRCm39)		probably null	Het
Borcs5	A	G	6: 134,621,331 (GRCm39)	D34G	possibly damaging	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Efl1	T	C	7: 82,320,936 (GRCm39)	V123A	probably damaging	Het
Exd2	T	A	12: 80,531,100 (GRCm39)	L99Q	probably benign	Het
Fnip2	T	C	3: 79,373,000 (GRCm39)	D1026G	probably damaging	Het
Gramd1b	A	G	9: 40,228,117 (GRCm39)		probably null	Het
Ints1	A	T	5: 139,757,165 (GRCm39)	L417*	probably null	Het
Iqgap2	A	T	13: 95,805,021 (GRCm39)	V845E	probably damaging	Het
Kcnh3	G	A	15: 99,125,001 (GRCm39)		probably null	Het
Mbd1	T	C	18: 74,402,557 (GRCm39)	S20P	possibly damaging	Het
Mef2c	A	T	13: 83,810,478 (GRCm39)	T375S	probably benign	Het
Mmp16	A	T	4: 18,051,725 (GRCm39)	N238I	probably damaging	Het
Neurod2	A	T	11: 98,218,114 (GRCm39)	V350E	possibly damaging	Het
P3h2	C	T	16: 25,805,953 (GRCm39)	E297K	probably damaging	Het
Pcdhb1	A	G	18: 37,398,283 (GRCm39)	H78R	possibly damaging	Het
Slc22a14	A	C	9: 119,007,518 (GRCm39)	L297R	probably damaging	Het
Slc22a8	G	A	19: 8,587,275 (GRCm39)	G445D	probably damaging	Het
Spink5	A	G	18: 44,140,778 (GRCm39)	D659G	probably damaging	Het
St6gal1	A	G	16: 23,140,411 (GRCm39)	Q194R	probably benign	Het
Tas2r104	A	T	6: 131,661,808 (GRCm39)	C300*	probably null	Het
Ttc6	G	A	12: 57,707,199 (GRCm39)	S702N	probably benign	Het
Wnk4	C	G	11: 101,167,166 (GRCm39)		probably benign	Het
Zfyve28	A	T	5: 34,356,145 (GRCm39)	D785E	probably benign	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
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
R7970:Gprin3	UTSW	6	59,330,150 (GRCm39)	missense	possibly damaging	0.71
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'- AGTTCCAACAAGTGGTTCCCACTG -3'
(R):5'- GTGAAATCCGAGGCAAACTCAAACG -3'

Sequencing Primer
(F):5'- CATGGCAAATGACACGCAG -3'
(R):5'- GTGTCCAGTGAACCTCCAGTAAG -3'

Posted On

2014-01-29