Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03308:Gprin1'

416452

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gprin1

Ensembl Gene

ENSMUSG00000069227

Gene Name

G protein-regulated inducer of neurite outgrowth 1

Synonyms

Z16, GRIN1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03308

Quality Score

Status

Chromosome

Chromosomal Location

54884484-54897486 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 54887957 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 106 (M106L)

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: M106L

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000097106
Gene: ENSMUSG00000069227
AA Change: M106L

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: M106L

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000115539
Gene: ENSMUSG00000069227
AA Change: M106L

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	T	C	4: 144,182,821 (GRCm39)	I216V	probably damaging	Het
Abcc1	A	G	16: 14,288,475 (GRCm39)	I1367V	possibly damaging	Het
Ap1g2	T	A	14: 55,342,333 (GRCm39)	I175F	probably benign	Het
Atad2	A	G	15: 57,965,919 (GRCm39)	V671A	probably benign	Het
Ccdc134	A	G	15: 82,015,721 (GRCm39)	D67G	probably damaging	Het
Cdk17	G	A	10: 93,057,506 (GRCm39)		probably null	Het
Col3a1	A	G	1: 45,369,777 (GRCm39)		probably benign	Het
Col5a3	A	G	9: 20,719,675 (GRCm39)	L228P	unknown	Het
Eef1a2	A	G	2: 180,790,629 (GRCm39)		probably benign	Het
Fars2	T	G	13: 36,388,670 (GRCm39)	I53R	possibly damaging	Het
Frmd4a	G	T	2: 4,502,837 (GRCm39)	A98S	possibly damaging	Het
Hspb8	T	C	5: 116,547,401 (GRCm39)	T194A	possibly damaging	Het
Ift27	A	G	15: 78,050,215 (GRCm39)	S65P	probably damaging	Het
Inpp5d	A	C	1: 87,630,919 (GRCm39)	Y430S	probably damaging	Het
Kat6b	T	C	14: 21,674,902 (GRCm39)	S356P	probably damaging	Het
Limch1	C	T	5: 67,159,901 (GRCm39)	T443M	possibly damaging	Het
Mcf2l	C	T	8: 13,059,512 (GRCm39)	R708C	probably damaging	Het
Mlf1	T	C	3: 67,305,140 (GRCm39)	W214R	probably damaging	Het
Naga	A	T	15: 82,220,088 (GRCm39)	L153Q	probably damaging	Het
Nbas	A	G	12: 13,374,349 (GRCm39)	Q559R	possibly damaging	Het
Or2ab1	T	C	11: 58,488,525 (GRCm39)	F101S	probably damaging	Het
Or2t6	T	A	14: 14,175,161 (GRCm38)	H307L	probably benign	Het
Prex2	A	G	1: 11,255,399 (GRCm39)	D1148G	possibly damaging	Het
Prss23	A	C	7: 89,158,938 (GRCm39)	L377R	probably benign	Het
Ptprc	G	T	1: 138,054,058 (GRCm39)	T27K	possibly damaging	Het
Rnf213	A	G	11: 119,364,998 (GRCm39)	T4553A	probably benign	Het
Scgb2b7	A	T	7: 31,404,506 (GRCm39)	C65S	probably damaging	Het
Skint3	T	C	4: 112,111,264 (GRCm39)	F130L	probably damaging	Het
Slc8a1	A	G	17: 81,749,624 (GRCm39)		probably benign	Het
Stau1	T	C	2: 166,792,240 (GRCm39)	N433D	probably damaging	Het
Tapbpl	G	A	6: 125,205,142 (GRCm39)	A268V	possibly damaging	Het
Tmem131l	T	C	3: 83,848,209 (GRCm39)	I314V	probably benign	Het
Tmem44	A	G	16: 30,362,566 (GRCm39)	W151R	probably damaging	Het
Tnnc1	T	C	14: 30,931,798 (GRCm39)		probably benign	Het
Traf5	T	G	1: 191,729,461 (GRCm39)	N530T	probably damaging	Het
Ttn	A	G	2: 76,576,907 (GRCm39)	I24662T	probably damaging	Het
Vmn1r49	A	T	6: 90,049,341 (GRCm39)	H220Q	possibly damaging	Het
Vmn2r106	A	T	17: 20,498,785 (GRCm39)	C375*	probably null	Het
Vps26b	T	C	9: 26,940,796 (GRCm39)	Y41C	probably damaging	Het
Wdr64	T	C	1: 175,594,562 (GRCm39)		probably benign	Het
Xylt1	C	T	7: 117,236,978 (GRCm39)	Q576*	probably null	Het
Zfp106	T	C	2: 120,354,505 (GRCm39)	D1422G	probably benign	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
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
R5102:Gprin1	UTSW	13	54,887,576 (GRCm39)	missense	probably benign	0.06
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

Posted On

2016-08-02