Mutagenetix > Incidental Mutation

Incidental Mutation 'R7201:Grin3b'

560319

Institutional Source

Beutler Lab

Gene Symbol

Grin3b

Ensembl Gene

ENSMUSG00000035745

Gene Name

glutamate receptor, ionotropic, NMDA3B

Synonyms

NR3B

MMRRC Submission

045279-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7201 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79806549-79813024 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79809912 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 473 (R473G)

Ref Sequence

ENSEMBL: ENSMUSP00000048576 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045085] [ENSMUST00000045247] [ENSMUST00000052885]

AlphaFold

Q91ZU9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045085
AA Change: R473G

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000048576
Gene: ENSMUSG00000035745
AA Change: R473G

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	39	60	N/A	INTRINSIC
low complexity region	217	230	N/A	INTRINSIC
PBPe	458	810	1.01e-82	SMART
Lig_chan-Glu_bd	459	522	6.6e-20	SMART
transmembrane domain	826	848	N/A	INTRINSIC
low complexity region	914	930	N/A	INTRINSIC
coiled coil region	950	984	N/A	INTRINSIC
low complexity region	989	1001	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000045247

SMART Domains

Protein: ENSMUSP00000041049
Gene: ENSMUSG00000035754

Domain	Start	End	E-Value	Type
Blast:WD40	27	66	3e-17	BLAST
WD40	70	107	1.48e1	SMART
WD40	110	149	1.24e-4	SMART
WD40	161	202	2.49e-1	SMART
WD40	205	243	2.05e1	SMART
WD40	258	297	2.32e-9	SMART
low complexity region	353	367	N/A	INTRINSIC
Pfam:WD40_alt	383	429	4.3e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000052885

SMART Domains

Protein: ENSMUSP00000056792
Gene: ENSMUSG00000013858

Domain	Start	End	E-Value	Type
Pfam:Membralin	34	131	3.3e-44	PFAM
Pfam:Membralin	138	393	3.9e-130	PFAM
transmembrane domain	394	411	N/A	INTRINSIC
low complexity region	455	470	N/A	INTRINSIC
low complexity region	483	521	N/A	INTRINSIC
low complexity region	531	544	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124536

SMART Domains

Protein: ENSMUSP00000119572
Gene: ENSMUSG00000013858

Domain	Start	End	E-Value	Type
Pfam:Membralin	4	101	1.6e-44	PFAM
Pfam:Membralin	108	297	7.7e-83	PFAM
Pfam:Membralin	316	387	5e-42	PFAM
transmembrane domain	388	405	N/A	INTRINSIC
low complexity region	449	464	N/A	INTRINSIC
low complexity region	477	515	N/A	INTRINSIC
low complexity region	525	538	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131816

SMART Domains

Protein: ENSMUSP00000122984
Gene: ENSMUSG00000035745

Domain	Start	End	E-Value	Type
Pfam:Lig_chan	1	368	2.2e-20	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000116887
Gene: ENSMUSG00000035745
AA Change: R114G

Domain	Start	End	E-Value	Type
PBPe	100	452	1.01e-82	SMART
Lig_chan-Glu_bd	101	164	6.6e-20	SMART
transmembrane domain	468	490	N/A	INTRINSIC

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (80/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a subunit of an N-methyl-D-aspartate (NMDA) receptor. The encoded protein is found primarily in motor neurons, where it forms a heterotetramer with GRIN1 to create an excitatory glycine receptor. Variations in this gene have been proposed to be linked to schizophrenia. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for a null allele show a mild impairment in motor learning or coordination, reduced home cage activity, a highly increased social interaction with familiar cagemates in their home cage but moderately increased anxiety-like behavior and reduced social interaction in a new environment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,153,300 (GRCm39)	T903A	probably benign	Het
Acin1	A	T	14: 54,902,356 (GRCm39)	S479T	possibly damaging	Het
Actr6	A	T	10: 89,548,374 (GRCm39)	D370E	probably benign	Het
Adgrl3	T	C	5: 81,872,069 (GRCm39)	F921S	probably damaging	Het
Ankmy1	A	T	1: 92,814,546 (GRCm39)	H320Q	possibly damaging	Het
Arhgef5	C	T	6: 43,250,166 (GRCm39)	Q306*	probably null	Het
Art4	A	T	6: 136,831,547 (GRCm39)	V198E	probably benign	Het
Asph	G	A	4: 9,474,917 (GRCm39)	R686W	probably damaging	Het
Atg7	A	G	6: 114,754,018 (GRCm39)	H724R	probably damaging	Het
BC034090	A	G	1: 155,117,680 (GRCm39)	V146A	probably damaging	Het
Bcl2a1d	T	A	9: 88,613,639 (GRCm39)	Q45L	probably damaging	Het
Bmal1	T	A	7: 112,884,349 (GRCm39)	M122K	probably damaging	Het
Cd28	G	T	1: 60,802,332 (GRCm39)	E84*	probably null	Het
Ceacam3	G	A	7: 16,892,163 (GRCm39)	W302*	probably null	Het
Cerkl	T	C	2: 79,163,934 (GRCm39)	N462S	probably benign	Het
Cisd2	A	T	3: 135,116,974 (GRCm39)	L39H	probably damaging	Het
Col11a1	C	A	3: 113,883,806 (GRCm39)	T225K	unknown	Het
Col15a1	A	T	4: 47,307,752 (GRCm39)	Y1178F	possibly damaging	Het
Cul4a	T	C	8: 13,192,991 (GRCm39)	S630P	probably damaging	Het
Cyp2c38	T	A	19: 39,390,220 (GRCm39)	I327F	probably damaging	Het
Cyp3a25	A	C	5: 145,928,257 (GRCm39)	S263A	probably benign	Het
Cyp3a25	T	A	5: 145,939,868 (GRCm39)	L46F	probably benign	Het
Dmrta1	T	A	4: 89,580,408 (GRCm39)	L456*	probably null	Het
Dnah12	T	C	14: 26,536,579 (GRCm39)	L2165P	probably benign	Het
Dsg1a	C	A	18: 20,461,368 (GRCm39)	S253R	probably damaging	Het
Egln2	A	C	7: 26,859,744 (GRCm39)	I323S	probably damaging	Het
Fam171b	A	G	2: 83,708,574 (GRCm39)	T359A	probably damaging	Het
Fcgr2b	G	T	1: 170,790,966 (GRCm39)	Q276K	probably benign	Het
Fcrl2	C	T	3: 87,159,934 (GRCm39)	C440Y	probably damaging	Het
Fmnl2	T	C	2: 52,963,666 (GRCm39)	V266A	unknown	Het
Glo1	A	T	17: 30,816,828 (GRCm39)	D109E	probably benign	Het
Ica1	G	A	6: 8,644,015 (GRCm39)	L425F	probably damaging	Het
Iho1	A	T	9: 108,281,974 (GRCm39)	D571E	probably damaging	Het
Ilrun	A	C	17: 28,013,044 (GRCm39)		probably null	Het
Kcnq5	T	C	1: 21,473,099 (GRCm39)	E716G	possibly damaging	Het
Klra17	A	T	6: 129,850,306 (GRCm39)	I48K	possibly damaging	Het
Lrrc66	G	T	5: 73,787,240 (GRCm39)	Q37K	probably benign	Het
Ly6a	T	A	15: 74,868,325 (GRCm39)	T55S	probably benign	Het
Lyst	T	A	13: 13,883,885 (GRCm39)	Y2924*	probably null	Het
Lyzl6	A	G	11: 103,522,177 (GRCm39)	Y140H	probably benign	Het
Mak	T	C	13: 41,204,916 (GRCm39)	I141V	possibly damaging	Het
Mapk7	A	G	11: 61,379,998 (GRCm39)	I789T	probably benign	Het
Mgat4f	A	G	1: 134,318,206 (GRCm39)	D326G	possibly damaging	Het
Mrpl4	T	C	9: 20,918,634 (GRCm39)	I123T	probably benign	Het
Mup18	G	C	4: 61,591,573 (GRCm39)		probably null	Het
Myef2	T	C	2: 124,938,082 (GRCm39)		probably null	Het
Myh7	T	C	14: 55,228,402 (GRCm39)	T235A	possibly damaging	Het
Myo18b	C	T	5: 112,863,325 (GRCm39)	C2171Y	probably damaging	Het
Nat8	A	T	6: 85,807,877 (GRCm39)	Y85*	probably null	Het
Nyap1	A	T	5: 137,734,524 (GRCm39)	S170T	probably damaging	Het
Ogfr	AGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,236,887 (GRCm39)		probably benign	Het
Or10ah1-ps1	A	G	5: 143,123,553 (GRCm39)	Y157H	probably damaging	Het
Or1e32	A	G	11: 73,705,167 (GRCm39)	V247A	probably benign	Het
Or51a25	T	A	7: 102,373,692 (GRCm39)	I2F	probably benign	Het
Papss1	T	C	3: 131,305,687 (GRCm39)	L244P	probably damaging	Het
Pibf1	A	T	14: 99,433,844 (GRCm39)	D597V	probably damaging	Het
Pmpcb	T	A	5: 21,942,177 (GRCm39)	M1K	probably null	Het
Ppwd1	G	A	13: 104,343,680 (GRCm39)	P575L	probably damaging	Het
Pramel17	T	A	4: 101,695,338 (GRCm39)		probably null	Het
Prc1	A	G	7: 79,960,837 (GRCm39)	Q457R	possibly damaging	Het
Prdm10	T	C	9: 31,227,602 (GRCm39)	V69A	possibly damaging	Het
Prkdc	A	G	16: 15,516,667 (GRCm39)	I1014V	probably benign	Het
Rab3gap2	A	G	1: 184,999,388 (GRCm39)	Y999C	probably damaging	Het
Robo3	G	A	9: 37,335,626 (GRCm39)	Q539*	probably null	Het
Rps12	A	G	10: 23,661,129 (GRCm39)	Y127H	probably benign	Het
Sar1b	A	G	11: 51,679,079 (GRCm39)	D116G	probably benign	Het
Selenbp2	C	T	3: 94,609,664 (GRCm39)	P294L	probably benign	Het
Slc6a2	T	C	8: 93,722,300 (GRCm39)	Y516H	probably damaging	Het
Slit2	A	G	5: 48,394,627 (GRCm39)	N673S	probably null	Het
Snap91	A	T	9: 86,672,199 (GRCm39)		probably null	Het
Spata31h1	T	C	10: 82,127,461 (GRCm39)	M1850V	probably benign	Het
Srpk2	A	G	5: 23,712,626 (GRCm39)	F653L	possibly damaging	Het
Supt5	A	T	7: 28,016,213 (GRCm39)	S824T	probably benign	Het
Taar7a	A	G	10: 23,868,358 (GRCm39)	V341A	probably benign	Het
Tmem52	G	A	4: 155,554,778 (GRCm39)	G134R	probably damaging	Het
Ush2a	A	G	1: 188,606,951 (GRCm39)	T3949A	probably benign	Het
Usp32	GAACAAGTCCACAACAA	GAACAA	11: 84,913,681 (GRCm39)		probably null	Het
Vmn1r173	A	T	7: 23,401,583 (GRCm39)		probably benign	Het
Vmn2r118	G	A	17: 55,915,496 (GRCm39)	R485*	probably null	Het
Vwce	A	G	19: 10,615,479 (GRCm39)	E120G	possibly damaging	Het
Zfp143	T	C	7: 109,692,287 (GRCm39)	V566A	possibly damaging	Het

Other mutations in Grin3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02754:Grin3b	APN	10	79,808,723 (GRCm39)	missense	possibly damaging	0.50
IGL03352:Grin3b	APN	10	79,809,615 (GRCm39)	missense	probably damaging	0.99
R0485:Grin3b	UTSW	10	79,809,890 (GRCm39)	missense	possibly damaging	0.68
R0927:Grin3b	UTSW	10	79,807,062 (GRCm39)	missense	probably benign	0.04
R1526:Grin3b	UTSW	10	79,810,436 (GRCm39)	missense	probably damaging	1.00
R1699:Grin3b	UTSW	10	79,811,716 (GRCm39)	missense	probably damaging	0.99
R1789:Grin3b	UTSW	10	79,809,242 (GRCm39)	missense	probably benign
R1916:Grin3b	UTSW	10	79,810,432 (GRCm39)	missense	probably damaging	1.00
R1991:Grin3b	UTSW	10	79,810,480 (GRCm39)	missense	probably damaging	1.00
R1991:Grin3b	UTSW	10	79,806,746 (GRCm39)	missense	probably benign
R4359:Grin3b	UTSW	10	79,808,731 (GRCm39)	missense	probably benign	0.00
R4817:Grin3b	UTSW	10	79,812,732 (GRCm39)	missense	probably benign	0.01
R4909:Grin3b	UTSW	10	79,812,938 (GRCm39)	makesense	probably null
R4942:Grin3b	UTSW	10	79,811,556 (GRCm39)	missense	probably damaging	0.99
R4981:Grin3b	UTSW	10	79,812,191 (GRCm39)	intron	probably benign
R5689:Grin3b	UTSW	10	79,810,465 (GRCm39)	missense	probably damaging	1.00
R5910:Grin3b	UTSW	10	79,808,855 (GRCm39)	missense	probably benign	0.00
R6132:Grin3b	UTSW	10	79,812,274 (GRCm39)	missense	probably damaging	1.00
R6242:Grin3b	UTSW	10	79,812,013 (GRCm39)	missense	probably damaging	1.00
R6262:Grin3b	UTSW	10	79,810,203 (GRCm39)	missense	probably benign	0.38
R6336:Grin3b	UTSW	10	79,812,295 (GRCm39)	missense	probably damaging	1.00
R6942:Grin3b	UTSW	10	79,811,953 (GRCm39)	critical splice donor site	probably null
R7322:Grin3b	UTSW	10	79,811,529 (GRCm39)	missense	probably damaging	1.00
R7526:Grin3b	UTSW	10	79,808,885 (GRCm39)	missense	probably benign
R7707:Grin3b	UTSW	10	79,811,735 (GRCm39)	missense	possibly damaging	0.89
R7980:Grin3b	UTSW	10	79,811,559 (GRCm39)	missense	possibly damaging	0.75
R8069:Grin3b	UTSW	10	79,812,868 (GRCm39)	missense	unknown
R8128:Grin3b	UTSW	10	79,812,944 (GRCm39)	missense
R8434:Grin3b	UTSW	10	79,810,422 (GRCm39)	missense	probably damaging	1.00
R8777:Grin3b	UTSW	10	79,808,972 (GRCm39)	missense	possibly damaging	0.96
R8777-TAIL:Grin3b	UTSW	10	79,808,972 (GRCm39)	missense	possibly damaging	0.96
R8848:Grin3b	UTSW	10	79,809,667 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GAGTTCCATCTCCATCTGGC -3'
(R):5'- GCCGAGTTGATACTGAAGCTGG -3'

Sequencing Primer
(F):5'- ctgatgaagatgggcagt -3'
(R):5'- TGATACTGAAGCTGGTCACG -3'

Posted On

2019-06-26