Mutagenetix > Incidental Mutation

Incidental Mutation 'R3830:Gprin3'

273945

Institutional Source

Beutler Lab

Gene Symbol

Gprin3

Ensembl Gene

ENSMUSG00000045441

Gene Name

GPRIN family member 3

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R3830 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59347226-59426294 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59353633 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 563 (E563G)

Ref Sequence

ENSEMBL: ENSMUSP00000051805 (fasta)

Gene Model

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

AlphaFold

Q8BWS5

Predicted Effect

probably benign
Transcript: ENSMUST00000051065
AA Change: E563G

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000051805
Gene: ENSMUSG00000045441
AA Change: E563G

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: 99.3%
3x: 98.7%
10x: 97.7%
20x: 96.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agpat5	A	G	8: 18,879,605	E250G	probably benign	Het
Aox4	A	T	1: 58,255,511	T960S	probably damaging	Het
Bach2	T	A	4: 32,563,150	L539H	probably damaging	Het
Capn1	A	T	19: 5,994,847	L465Q	probably damaging	Het
Cd300c	A	G	11: 114,959,627	F117L	probably benign	Het
Cep104	T	G	4: 153,984,943	M207R	probably damaging	Het
Chd2	A	G	7: 73,491,415	Y577H	possibly damaging	Het
Col4a1	C	A	8: 11,209,650	G1341V	probably damaging	Het
Cspg4	T	G	9: 56,897,621	D1905E	probably damaging	Het
Dhx37	T	C	5: 125,431,613	K86R	probably benign	Het
Drd2	T	A	9: 49,402,143	V204D	probably damaging	Het
Gclc	A	T	9: 77,791,960	I520L	probably benign	Het
Gpat3	A	G	5: 100,884,386	D183G	probably benign	Het
Gpat4	G	A	8: 23,180,155	P286L	probably damaging	Het
Grm8	A	T	6: 27,761,229	L332*	probably null	Het
Grpel1	T	A	5: 36,469,483	N36K	probably benign	Het
Hecw1	C	T	13: 14,346,058	S198N	probably benign	Het
Kcna2	T	C	3: 107,104,796	I231T	probably benign	Het
Lpcat1	T	C	13: 73,489,093	I114T	possibly damaging	Het
Mast4	G	T	13: 102,738,811	H1350N	probably damaging	Het
Ncor2	T	C	5: 125,118,692		probably benign	Het
Ntn1	C	G	11: 68,385,793	D110H	probably damaging	Het
Olfr222	G	T	11: 59,571,601	N46K	probably damaging	Het
Pigb	T	C	9: 73,017,473	N468S	probably benign	Het
Pik3r2	G	A	8: 70,770,421	R452C	probably benign	Het
Plekhg1	A	G	10: 3,873,400	T123A	probably damaging	Het
Ptges3l	T	C	11: 101,421,617	*67W	probably null	Het
Rgs12	G	A	5: 34,966,015	V381M	possibly damaging	Het
Rrm2	G	T	12: 24,708,599	A47S	probably benign	Het
Rsg1	C	T	4: 141,218,589	R148C	probably damaging	Het
Six2	G	T	17: 85,685,187	S296Y	probably damaging	Het
Slc5a12	T	A	2: 110,632,736	C392*	probably null	Het
Snx5	A	T	2: 144,254,901		probably null	Het
Svep1	A	G	4: 58,096,177	L1481P	probably damaging	Het
Tspan18	T	C	2: 93,220,108	I57V	probably benign	Het
Ube3b	C	A	5: 114,399,951	Q368K	probably damaging	Het
Zfhx4	A	T	3: 5,401,209	K2142N	probably damaging	Het
Zfp729a	A	T	13: 67,619,878	F744Y	probably damaging	Het

Other mutations in Gprin3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00970:Gprin3	APN	6	59353837	missense	possibly damaging	0.72
IGL02059:Gprin3	APN	6	59355325	utr 5 prime	probably benign
IGL02080:Gprin3	APN	6	59354191	missense	possibly damaging	0.91
IGL02183:Gprin3	APN	6	59353162	missense	possibly damaging	0.87
IGL02267:Gprin3	APN	6	59354473	missense	probably benign	0.02
IGL02801:Gprin3	APN	6	59354981	missense	possibly damaging	0.53
IGL03212:Gprin3	APN	6	59355028	missense	probably benign
creep	UTSW	6	59353387	missense	probably damaging	0.98
simplex	UTSW	6	59354560	missense	possibly damaging	0.72
viridae	UTSW	6	59354936	missense	possibly damaging	0.86
R0505:Gprin3	UTSW	6	59353387	missense	probably damaging	0.98
R0944:Gprin3	UTSW	6	59353915	missense	possibly damaging	0.72
R1028:Gprin3	UTSW	6	59354609	missense	possibly damaging	0.53
R1180:Gprin3	UTSW	6	59354936	missense	possibly damaging	0.86
R1290:Gprin3	UTSW	6	59354464	missense	possibly damaging	0.53
R2060:Gprin3	UTSW	6	59354519	missense	possibly damaging	0.73
R2403:Gprin3	UTSW	6	59354149	missense	probably benign	0.13
R3893:Gprin3	UTSW	6	59354479	missense	probably benign	0.12
R3983:Gprin3	UTSW	6	59354560	missense	possibly damaging	0.72
R4812:Gprin3	UTSW	6	59353365	missense	possibly damaging	0.85
R4932:Gprin3	UTSW	6	59354173	missense	probably benign	0.33
R4944:Gprin3	UTSW	6	59354659	missense	probably benign	0.00
R5523:Gprin3	UTSW	6	59353946	nonsense	probably null
R5677:Gprin3	UTSW	6	59353892	missense	possibly damaging	0.73
R5772:Gprin3	UTSW	6	59354413	missense	possibly damaging	0.86
R5879:Gprin3	UTSW	6	59354713	missense	probably benign
R5881:Gprin3	UTSW	6	59354786	missense	probably benign	0.18
R6044:Gprin3	UTSW	6	59353672	missense	possibly damaging	0.72
R6272:Gprin3	UTSW	6	59353331	nonsense	probably null
R7140:Gprin3	UTSW	6	59355143	missense	possibly damaging	0.85
R7528:Gprin3	UTSW	6	59354032	missense	possibly damaging	0.85
R7891:Gprin3	UTSW	6	59353711	missense	probably benign	0.22
R7970:Gprin3	UTSW	6	59353165	missense	possibly damaging	0.71
R8129:Gprin3	UTSW	6	59353859	missense	probably benign	0.03
R8190:Gprin3	UTSW	6	59354471	missense	possibly damaging	0.73
R8291:Gprin3	UTSW	6	59355005	missense	possibly damaging	0.47
R8466:Gprin3	UTSW	6	59354481	missense	possibly damaging	0.73
R8466:Gprin3	UTSW	6	59354482	missense	probably benign	0.33
R9135:Gprin3	UTSW	6	59353288	missense	probably benign	0.05
R9182:Gprin3	UTSW	6	59354212	missense	probably benign	0.02
R9762:Gprin3	UTSW	6	59354251	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- CTGTCACACTGAGCTCCTTCAG -3'
(R):5'- TGGAGGTGCCAACAAAGACTAC -3'

Sequencing Primer
(F):5'- AGCTCCTTCAGGAACTCGCTG -3'
(R):5'- CTTGGACCCCACTGATAA -3'

Posted On

2015-04-02