Mutagenetix > Incidental Mutation

Incidental Mutation 'R9398:Gprin1'

710960

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9398 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54884484-54897486 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 54887383 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 297 (T297N)

Ref Sequence

ENSEMBL: ENSMUSP00000097106 (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 damaging
Transcript: ENSMUST00000099506
AA Change: T297N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097106
Gene: ENSMUSG00000069227
AA Change: T297N

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 damaging
Transcript: ENSMUST00000135343
AA Change: T297N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000115539
Gene: ENSMUSG00000069227
AA Change: T297N

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvrl1	A	T	15: 101,034,924 (GRCm39)	K228*	probably null	Het
Adrb2	T	C	18: 62,312,276 (GRCm39)	D183G	probably benign	Het
Ap1m2	A	G	9: 21,216,935 (GRCm39)	Y134H	probably damaging	Het
Arid5a	A	G	1: 36,358,073 (GRCm39)	T217A	probably benign	Het
Cdnf	C	T	2: 3,522,075 (GRCm39)	T89I	possibly damaging	Het
Cntnap3	G	A	13: 65,051,648 (GRCm39)	R3W	probably benign	Het
Col6a6	A	G	9: 105,651,825 (GRCm39)	I1062T	probably benign	Het
Ctss	T	C	3: 95,454,258 (GRCm39)	F270S	possibly damaging	Het
Ddhd1	C	T	14: 45,895,117 (GRCm39)	G118R	possibly damaging	Het
Ddx11	A	G	17: 66,436,912 (GRCm39)	K69E	probably benign	Het
Dgkb	G	A	12: 38,189,657 (GRCm39)	G328D	probably damaging	Het
Dock1	C	T	7: 134,774,228 (GRCm39)	T1852M	probably damaging	Het
Gm19410	T	C	8: 36,272,356 (GRCm39)	Y1346H	probably benign	Het
Gramd1c	A	G	16: 43,833,381 (GRCm39)	F187S	probably damaging	Het
Gse1	A	G	8: 121,303,074 (GRCm39)	N1072D	unknown	Het
Gtf3c6	G	A	10: 40,133,520 (GRCm39)		probably benign	Het
Hipk3	T	A	2: 104,263,562 (GRCm39)	T897S	probably benign	Het
Igsf21	T	A	4: 139,973,762 (GRCm39)		probably benign	Het
Itgb1	A	G	8: 129,452,605 (GRCm39)	I757V	probably damaging	Het
Lamb2	C	T	9: 108,364,366 (GRCm39)	R1102W	possibly damaging	Het
Lzts2	T	G	19: 45,013,208 (GRCm39)	C374W	unknown	Het
Mapk10	A	T	5: 103,061,152 (GRCm39)	S462T	probably damaging	Het
Mtcl1	A	T	17: 66,755,462 (GRCm39)	D293E	possibly damaging	Het
Nf1	T	G	11: 79,438,018 (GRCm39)	H109Q	probably damaging	Het
Nlrp9b	T	C	7: 19,783,435 (GRCm39)	L926P	probably damaging	Het
Notch2	G	A	3: 98,009,668 (GRCm39)	D532N	probably damaging	Het
Olfm4	A	T	14: 80,249,249 (GRCm39)	Y122F	probably benign	Het
Or52e19b	T	A	7: 103,032,487 (GRCm39)	T241S	probably damaging	Het
Or52r1	A	G	7: 102,537,000 (GRCm39)	M120T	probably damaging	Het
Or56a4	A	T	7: 104,806,006 (GRCm39)	Y294*	probably null	Het
Or5g24-ps1	T	C	2: 85,464,367 (GRCm39)	V198A	probably benign	Het
Or5p76	T	C	7: 108,123,035 (GRCm39)	T41A	probably damaging	Het
Or5t18	A	G	2: 86,637,160 (GRCm39)	L61P	possibly damaging	Het
P2rx2	A	T	5: 110,488,138 (GRCm39)	M472K	probably benign	Het
Pbxip1	A	G	3: 89,354,941 (GRCm39)	K487E	probably benign	Het
Plxnb2	A	G	15: 89,045,122 (GRCm39)	V1108A	probably benign	Het
Polq	A	G	16: 36,881,394 (GRCm39)	N1186S	probably benign	Het
Por	T	A	5: 135,754,597 (GRCm39)	W6R	unknown	Het
Prex2	G	A	1: 11,207,028 (GRCm39)	V529I	probably benign	Het
Rgs6	T	G	12: 82,698,615 (GRCm39)	S5A	probably benign	Het
Rp9	G	T	9: 22,360,082 (GRCm39)	S171*	probably null	Het
Sec11c	T	A	18: 65,942,568 (GRCm39)	I47N	possibly damaging	Het
Sh2b1	GCCACGGGGACCAGCTC	GCCACGGGGACCAGCTCATCCACGGGGACCAGCTC	7: 126,066,756 (GRCm39)		probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Sh2b1	GACCAGCTCAGCCACGGG	GACCAGCTCAGCCACGGGTACCAGCTCAGCCACGGG	7: 126,066,746 (GRCm39)		probably benign	Het
Slco1a8	A	G	6: 141,940,511 (GRCm39)	S137P	possibly damaging	Het
Sorcs1	A	G	19: 50,213,651 (GRCm39)	M692T	possibly damaging	Het
Sult1d1	T	A	5: 87,713,954 (GRCm39)	Q30L	probably benign	Het
Tcea2	A	G	2: 181,322,243 (GRCm39)	D15G	probably damaging	Het
Tep1	T	C	14: 51,066,429 (GRCm39)	S2344G	possibly damaging	Het
Ttc6	T	A	12: 57,784,404 (GRCm39)	Y1824*	probably null	Het
Ubqln5	T	C	7: 103,777,985 (GRCm39)	T280A	probably benign	Het
Ush1c	T	C	7: 45,869,934 (GRCm39)	R342G	probably benign	Het
Vmn1r185	T	A	7: 26,311,056 (GRCm39)	I150F	probably benign	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn1r86	A	G	7: 12,836,261 (GRCm39)	M205T	probably damaging	Het
Vps13d	A	T	4: 144,896,956 (GRCm39)	Y321*	probably null	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
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
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'- GCCTGAAGGTCCTGTACTGTTG -3'
(R):5'- CAGGAGAGGGAGATCTTGTGTC -3'

Sequencing Primer
(F):5'- CCTGTACTGTTGGAAGATGTAGAATC -3'
(R):5'- TTTGAGGGAAAATGATATGAAACCCC -3'

Posted On

2022-04-18