Mutagenetix > Incidental Mutation

Incidental Mutation 'R5102:Gprin1'

392438

Institutional Source

Beutler Lab

Gene Symbol

Gprin1

Ensembl Gene

ENSMUSG00000069227

Gene Name

G protein-regulated inducer of neurite outgrowth 1

Synonyms

Z16, GRIN1

MMRRC Submission

042690-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5102 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54884484-54897486 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54887576 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 233 (M233V)

Ref Sequence

ENSEMBL: ENSMUSP00000115539 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037145] [ENSMUST00000099506] [ENSMUST00000135343]

AlphaFold

Q3UNH4

Predicted Effect

probably benign
Transcript: ENSMUST00000037145

SMART Domains

Protein: ENSMUSP00000043596
Gene: ENSMUSG00000034918

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
CA	48	122	8.62e-15	SMART
CA	146	239	1.4e-2	SMART
CA	263	351	2.19e-16	SMART
CA	391	478	4.22e-9	SMART
CA	503	584	2.15e-24	SMART
CA	605	693	6.78e-22	SMART
CA	715	805	1.78e-16	SMART
CA	830	925	7.57e-11	SMART
CA	950	1042	7.1e-2	SMART
low complexity region	1121	1147	N/A	INTRINSIC
transmembrane domain	1153	1175	N/A	INTRINSIC
low complexity region	1195	1209	N/A	INTRINSIC
low complexity region	1234	1250	N/A	INTRINSIC
low complexity region	1264	1277	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000099506
AA Change: M233V

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000097106
Gene: ENSMUSG00000069227
AA Change: M233V

Domain	Start	End	E-Value	Type
low complexity region	31	43	N/A	INTRINSIC
internal_repeat_1	80	256	2.14e-7	PROSPERO
internal_repeat_2	95	267	4.89e-7	PROSPERO
low complexity region	314	324	N/A	INTRINSIC
low complexity region	424	443	N/A	INTRINSIC
internal_repeat_2	448	620	4.89e-7	PROSPERO
internal_repeat_1	457	643	2.14e-7	PROSPERO
low complexity region	684	703	N/A	INTRINSIC
low complexity region	758	773	N/A	INTRINSIC
Pfam:GRIN_C	790	929	4.2e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135343
AA Change: M233V

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000115539
Gene: ENSMUSG00000069227
AA Change: M233V

Domain	Start	End	E-Value	Type
low complexity region	31	43	N/A	INTRINSIC
internal_repeat_1	80	256	2.14e-7	PROSPERO
internal_repeat_2	95	267	4.89e-7	PROSPERO
low complexity region	314	324	N/A	INTRINSIC
low complexity region	424	443	N/A	INTRINSIC
internal_repeat_2	448	620	4.89e-7	PROSPERO
internal_repeat_1	457	643	2.14e-7	PROSPERO
low complexity region	684	703	N/A	INTRINSIC
low complexity region	758	773	N/A	INTRINSIC
Pfam:GRIN_C	787	932	2.6e-49	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox4	C	T	1: 58,279,937 (GRCm39)	R518C	probably damaging	Het
Apbb2	A	T	5: 66,469,592 (GRCm39)		probably null	Het
Arhgap45	C	T	10: 79,857,262 (GRCm39)	P254S	probably benign	Het
Arl4c	T	C	1: 88,629,322 (GRCm39)	D22G	probably damaging	Het
Asxl1	A	G	2: 153,242,875 (GRCm39)	T1142A	probably benign	Het
BC035044	T	C	6: 128,861,949 (GRCm39)		probably benign	Het
Bmp4	T	C	14: 46,621,458 (GRCm39)	N362S	probably damaging	Het
Cbll1	G	T	12: 31,537,912 (GRCm39)	T280N	probably damaging	Het
Cdh10	A	T	15: 18,986,971 (GRCm39)	T401S	probably benign	Het
Cmklr2	A	G	1: 63,222,326 (GRCm39)	V303A	probably damaging	Het
Cps1	A	T	1: 67,245,952 (GRCm39)	M1148L	probably benign	Het
Crybg1	T	C	10: 43,873,832 (GRCm39)	D1092G	probably damaging	Het
Cyth2	A	G	7: 45,460,126 (GRCm39)	S173P	probably damaging	Het
D6Ertd527e	A	T	6: 87,088,793 (GRCm39)	I319F	unknown	Het
Dchs1	A	T	7: 105,421,384 (GRCm39)	H345Q	probably benign	Het
Ddx50	A	T	10: 62,476,640 (GRCm39)	V211E	probably damaging	Het
Dlx6	AGG	AG	6: 6,865,180 (GRCm39)		probably null	Het
Dnajb5	G	A	4: 42,956,639 (GRCm39)	D109N	possibly damaging	Het
Dner	A	T	1: 84,383,691 (GRCm39)	N564K	probably damaging	Het
Fam234b	T	C	6: 135,186,282 (GRCm39)	S97P	probably benign	Het
Fam53b	G	A	7: 132,317,684 (GRCm39)	R60*	probably null	Het
Fmo3	T	G	1: 162,791,546 (GRCm39)	K244Q	probably benign	Het
Golim4	A	G	3: 75,810,579 (GRCm39)	I192T	possibly damaging	Het
Gtf2f1	A	T	17: 57,310,626 (GRCm39)	V443D	probably damaging	Het
Hmgcs2	T	C	3: 98,187,786 (GRCm39)		probably benign	Het
Ide	T	A	19: 37,292,383 (GRCm39)	I271L	unknown	Het
Kat8	G	A	7: 127,523,988 (GRCm39)	E343K	probably damaging	Het
Kif14	A	G	1: 136,444,141 (GRCm39)	I1378V	probably benign	Het
Lhx3	TCCTACGGGCCGGCCC	TCC	2: 26,091,435 (GRCm39)		probably null	Het
Lhx6	T	C	2: 35,984,222 (GRCm39)		probably null	Het
Lrp2	C	T	2: 69,319,502 (GRCm39)	G2007D	probably damaging	Het
Lrp5	T	C	19: 3,709,304 (GRCm39)	K142R	probably damaging	Het
Macroh2a1	C	G	13: 56,243,936 (GRCm39)		probably null	Het
Mrpl2	G	A	17: 46,960,964 (GRCm39)	R286Q	probably benign	Het
Mtrfr	A	G	5: 124,476,954 (GRCm39)	N83D	probably damaging	Het
Nacad	T	A	11: 6,548,528 (GRCm39)	D1402V	probably damaging	Het
Ndfip2	T	C	14: 105,535,539 (GRCm39)	I275T	possibly damaging	Het
Neb	A	C	2: 52,116,582 (GRCm39)	V4131G	possibly damaging	Het
Nfe2l1	G	A	11: 96,712,934 (GRCm39)	A83V	probably damaging	Het
Nos3	A	G	5: 24,576,625 (GRCm39)	D418G	probably damaging	Het
Or12e7	A	T	2: 87,288,138 (GRCm39)	M210L	probably benign	Het
Or1n1b	T	A	2: 36,780,056 (GRCm39)	K268M	possibly damaging	Het
Plcd4	A	G	1: 74,604,313 (GRCm39)	T764A	probably damaging	Het
Plppr3	G	T	10: 79,701,220 (GRCm39)	P541T	possibly damaging	Het
Polr2a	A	G	11: 69,637,771 (GRCm39)	I191T	possibly damaging	Het
Pramel18	T	C	4: 101,766,436 (GRCm39)	F40S	probably damaging	Het
Rab11fip1	T	C	8: 27,646,402 (GRCm39)	K225E	probably damaging	Het
Rara	A	T	11: 98,857,185 (GRCm39)	Q64L	possibly damaging	Het
Rtkn	G	A	6: 83,126,754 (GRCm39)	V305M	probably damaging	Het
Sh2b1	A	C	7: 126,070,408 (GRCm39)	F399V	probably benign	Het
Slc7a4	T	C	16: 17,393,482 (GRCm39)	T106A	probably damaging	Het
Srcap	G	A	7: 127,129,795 (GRCm39)	G539D	probably damaging	Het
Stab1	C	T	14: 30,869,974 (GRCm39)		probably null	Het
Zfp267	G	A	3: 36,216,814 (GRCm39)	C55Y	possibly damaging	Het

Other mutations in Gprin1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01021:Gprin1	APN	13	54,888,182 (GRCm39)	missense	probably damaging	1.00
IGL02001:Gprin1	APN	13	54,887,005 (GRCm39)	missense	probably damaging	1.00
IGL03188:Gprin1	APN	13	54,886,465 (GRCm39)	missense	probably benign	0.02
IGL03308:Gprin1	APN	13	54,887,957 (GRCm39)	missense	probably benign	0.05
R0980:Gprin1	UTSW	13	54,888,214 (GRCm39)	missense	possibly damaging	0.75
R1638:Gprin1	UTSW	13	54,887,689 (GRCm39)	missense	possibly damaging	0.53
R1942:Gprin1	UTSW	13	54,887,752 (GRCm39)	missense	probably benign	0.36
R2145:Gprin1	UTSW	13	54,886,445 (GRCm39)	missense	probably damaging	0.99
R2215:Gprin1	UTSW	13	54,888,046 (GRCm39)	missense	probably damaging	0.99
R2338:Gprin1	UTSW	13	54,886,238 (GRCm39)	splice site	probably null
R3014:Gprin1	UTSW	13	54,886,288 (GRCm39)	missense	probably benign	0.34
R4634:Gprin1	UTSW	13	54,885,871 (GRCm39)	missense	probably damaging	1.00
R4732:Gprin1	UTSW	13	54,887,770 (GRCm39)	missense	possibly damaging	0.50
R4733:Gprin1	UTSW	13	54,887,770 (GRCm39)	missense	possibly damaging	0.50
R4903:Gprin1	UTSW	13	54,885,742 (GRCm39)	missense	probably damaging	1.00
R4915:Gprin1	UTSW	13	54,885,886 (GRCm39)	missense	probably damaging	1.00
R5979:Gprin1	UTSW	13	54,887,791 (GRCm39)	missense	probably benign	0.01
R6544:Gprin1	UTSW	13	54,888,124 (GRCm39)	missense	possibly damaging	0.46
R7007:Gprin1	UTSW	13	54,886,069 (GRCm39)	missense	probably damaging	1.00
R7022:Gprin1	UTSW	13	54,886,855 (GRCm39)	missense	probably benign	0.11
R7110:Gprin1	UTSW	13	54,887,056 (GRCm39)	missense	probably benign	0.01
R7385:Gprin1	UTSW	13	54,886,423 (GRCm39)	missense	probably benign	0.09
R7916:Gprin1	UTSW	13	54,887,263 (GRCm39)	missense	possibly damaging	0.61
R8696:Gprin1	UTSW	13	54,885,764 (GRCm39)	missense	probably damaging	1.00
R9151:Gprin1	UTSW	13	54,886,778 (GRCm39)	missense	probably benign	0.22
R9178:Gprin1	UTSW	13	54,885,601 (GRCm39)	missense	probably damaging	1.00
R9285:Gprin1	UTSW	13	54,886,523 (GRCm39)	missense	probably damaging	1.00
R9398:Gprin1	UTSW	13	54,887,383 (GRCm39)	missense	probably damaging	0.99
R9711:Gprin1	UTSW	13	54,886,714 (GRCm39)	missense	probably benign	0.00
Z1176:Gprin1	UTSW	13	54,888,210 (GRCm39)	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- TCTGAATTGCCCACAGCTGC -3'
(R):5'- ATTCTGGGTCCTTGGGAAAAGTAG -3'

Sequencing Primer
(F):5'- CACAGCTGCAGGACCTG -3'
(R):5'- TGCCATGTTCCAGCAAAGTG -3'

Posted On

2016-06-15