Mutagenetix > Incidental Mutation

Incidental Mutation 'R7369:Sort1'

571985

Institutional Source

Beutler Lab

Gene Symbol

Sort1

Ensembl Gene

ENSMUSG00000068747

Gene Name

sortilin 1

Synonyms

Ntsr3, neurotensin receptor 3, Ntr3, sortilin, 2900053A11Rik

MMRRC Submission

045453-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.810) question?

Stock #

R7369 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108191398-108268827 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 108258996 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 676 (G676D)

Ref Sequence

ENSEMBL: ENSMUSP00000123564 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102632] [ENSMUST00000135636]

AlphaFold

Q6PHU5

Predicted Effect

probably damaging
Transcript: ENSMUST00000102632
AA Change: G676D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099692
Gene: ENSMUSG00000068747
AA Change: G676D

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
low complexity region	33	47	N/A	INTRINSIC
low complexity region	59	79	N/A	INTRINSIC
VPS10	131	743	N/A	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000135636
AA Change: G676D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123564
Gene: ENSMUSG00000068747
AA Change: G676D

Domain	Start	End	E-Value	Type
VPS10	1	218	2.3e-5	SMART
transmembrane domain	262	284	N/A	INTRINSIC

Coding Region Coverage

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

Validation Efficiency

100% (77/77)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the VPS10-related sortilin family of proteins. The encoded preproprotein is proteolytically processed by furin to generate the mature receptor. This receptor plays a role in the trafficking of different proteins to either the cell surface, or subcellular compartments such as lysosomes and endosomes. Expression levels of this gene may influence the risk of myocardial infarction in human patients. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a null allele exhbit increased protection from age- and injury-related neuron lose. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L13Rik	C	T	7: 29,989,377 (GRCm39)	L196F	unknown	Het
Ahr	A	T	12: 35,554,659 (GRCm39)	W487R	possibly damaging	Het
Apaf1	A	G	10: 90,836,898 (GRCm39)	S1060P	probably damaging	Het
Atf7	G	T	15: 102,462,244 (GRCm39)	P126H	probably damaging	Het
B3gnt5	C	A	16: 19,588,410 (GRCm39)	Q210K	probably benign	Het
Begain	T	C	12: 108,999,853 (GRCm39)	Y306C	possibly damaging	Het
Car5a	T	C	8: 122,650,573 (GRCm39)	K157R	probably benign	Het
Car5b	A	C	X: 162,797,836 (GRCm39)	S35R	probably benign	Het
Cdh6	A	G	15: 13,042,724 (GRCm39)	V478A	probably damaging	Het
Cdyl	A	G	13: 35,999,992 (GRCm39)	E91G	probably damaging	Het
Cep135	A	C	5: 76,741,100 (GRCm39)	K59Q	possibly damaging	Het
Clec2m	T	A	6: 129,308,496 (GRCm39)	Q11L	possibly damaging	Het
Cnot3	T	A	7: 3,656,330 (GRCm39)	D205E	possibly damaging	Het
Dgkd	G	A	1: 87,849,344 (GRCm39)	G379R	probably damaging	Het
Dppa1	T	A	11: 46,506,944 (GRCm39)		probably null	Het
Dsp	G	T	13: 38,381,501 (GRCm39)	V2749F	possibly damaging	Het
E2f4	A	G	8: 106,026,966 (GRCm39)	K177E	probably benign	Het
Efcab5	G	A	11: 77,008,661 (GRCm39)	P819L	possibly damaging	Het
Ercc5	T	A	1: 44,220,020 (GRCm39)	S1097R	probably benign	Het
Erp44	T	C	4: 48,218,183 (GRCm39)	N162S	probably benign	Het
Evl	A	G	12: 108,652,824 (GRCm39)	Y423C	unknown	Het
Fam78a	T	A	2: 31,959,699 (GRCm39)	N137I	probably damaging	Het
Fcrl2	T	C	3: 87,164,008 (GRCm39)	N374D	possibly damaging	Het
Fcrla	T	G	1: 170,749,886 (GRCm39)	D57A	probably benign	Het
Gm7145	A	T	1: 117,913,838 (GRCm39)	H240L	probably benign	Het
Kdm5a	T	A	6: 120,408,965 (GRCm39)	N1549K	possibly damaging	Het
Kirrel1	C	T	3: 87,048,391 (GRCm39)	R9H	probably benign	Het
Klf7	T	C	1: 64,160,300 (GRCm39)		probably null	Het
Lce1d	G	A	3: 92,593,390 (GRCm39)	Q8*	probably null	Het
Lcn4	T	C	2: 26,557,906 (GRCm39)	H180R	probably benign	Het
Lmntd1	T	A	6: 145,359,301 (GRCm39)	Y283F	probably damaging	Het
Lrp1b	C	T	2: 41,172,051 (GRCm39)	R1646K		Het
Map3k21	C	A	8: 126,637,855 (GRCm39)	A147E	possibly damaging	Het
Mapk8ip2	T	C	15: 89,338,454 (GRCm39)	S11P	probably benign	Het
Mdn1	T	A	4: 32,773,375 (GRCm39)	F5518L	probably damaging	Het
Msh3	T	A	13: 92,435,770 (GRCm39)	T510S	probably benign	Het
Myh1	A	T	11: 67,111,524 (GRCm39)	Q1654H	probably damaging	Het
Ncbp3	T	C	11: 72,968,747 (GRCm39)	V506A	probably benign	Het
Nfkbiz	A	G	16: 55,642,209 (GRCm39)	S70P	probably damaging	Het
Nmi	T	C	2: 51,840,096 (GRCm39)	D215G	possibly damaging	Het
Nphp3	T	C	9: 103,895,449 (GRCm39)	S496P	probably damaging	Het
Nrp1	T	A	8: 129,158,396 (GRCm39)	C228S	probably damaging	Het
Or6c5c	A	T	10: 129,299,390 (GRCm39)	M282L	probably benign	Het
Pcdh9	C	A	14: 94,123,803 (GRCm39)	R789L	possibly damaging	Het
Pigr	A	T	1: 130,769,503 (GRCm39)	T105S	probably benign	Het
Polr2a	A	C	11: 69,636,803 (GRCm39)	S383A	probably benign	Het
Prr35	G	A	17: 26,166,934 (GRCm39)	S201L	probably damaging	Het
Psd3	T	A	8: 68,356,818 (GRCm39)	H634L	possibly damaging	Het
Ptgr2	T	G	12: 84,339,080 (GRCm39)		probably benign	Het
Ptk6	A	G	2: 180,840,254 (GRCm39)	Y251H	possibly damaging	Het
Rnf213	A	G	11: 119,321,294 (GRCm39)	T1251A		Het
Rtkn2	A	G	10: 67,877,259 (GRCm39)	K443E	probably damaging	Het
Rundc3a	T	A	11: 102,290,721 (GRCm39)	L268Q	probably damaging	Het
Serpinb5	A	G	1: 106,802,879 (GRCm39)	E138G	probably benign	Het
Shroom1	A	T	11: 53,356,075 (GRCm39)	D375V	probably benign	Het
Siglecf	A	G	7: 43,001,241 (GRCm39)	T70A	probably damaging	Het
Slc20a2	A	T	8: 23,051,416 (GRCm39)	E483V	probably benign	Het
Slc49a3	A	G	5: 108,593,394 (GRCm39)	V148A	probably benign	Het
Spef2	T	C	15: 9,584,293 (GRCm39)	S1581G	probably benign	Het
Stx6	C	T	1: 155,073,130 (GRCm39)	R214*	probably null	Het
Stxbp5l	A	G	16: 36,954,703 (GRCm39)	I950T	probably benign	Het
Tdrd7	T	A	4: 46,013,239 (GRCm39)	C660S	possibly damaging	Het
Tgm4	T	A	9: 122,885,749 (GRCm39)		probably null	Het
Tmem67	T	C	4: 12,053,535 (GRCm39)	Y671C	probably damaging	Het
Ttc6	A	T	12: 57,719,717 (GRCm39)		probably null	Het
Tut7	A	G	13: 59,929,867 (GRCm39)	I1458T	possibly damaging	Het
Uba2	A	G	7: 33,850,239 (GRCm39)	S405P	possibly damaging	Het
Usp34	T	C	11: 23,382,361 (GRCm39)	I2043T		Het
Vmn1r12	T	A	6: 57,136,683 (GRCm39)	I260N	possibly damaging	Het
Vmn1r172	C	T	7: 23,360,030 (GRCm39)	T305I	unknown	Het
Vmn2r24	T	C	6: 123,792,638 (GRCm39)	V655A	probably damaging	Het
Wdr33	T	C	18: 32,019,719 (GRCm39)	S464P	probably benign	Het
Zfp260	T	A	7: 29,804,750 (GRCm39)	C217S	probably damaging	Het
Zfp760	A	G	17: 21,942,214 (GRCm39)	E463G	probably benign	Het
Zhx1	A	G	15: 57,916,696 (GRCm39)	Y517H	probably damaging	Het

Other mutations in Sort1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00227:Sort1	APN	3	108,263,623 (GRCm39)	missense	probably damaging	0.99
IGL01677:Sort1	APN	3	108,252,201 (GRCm39)	missense	probably benign	0.05
IGL02532:Sort1	APN	3	108,233,036 (GRCm39)	missense	probably benign	0.44
IGL03354:Sort1	APN	3	108,256,022 (GRCm39)	missense	probably benign	0.00
R0266:Sort1	UTSW	3	108,252,247 (GRCm39)	missense	probably benign	0.09
R0277:Sort1	UTSW	3	108,231,908 (GRCm39)	splice site	probably benign
R0559:Sort1	UTSW	3	108,263,895 (GRCm39)	missense	probably damaging	1.00
R0597:Sort1	UTSW	3	108,246,226 (GRCm39)	missense	probably damaging	1.00
R0624:Sort1	UTSW	3	108,255,946 (GRCm39)	missense	probably damaging	1.00
R1803:Sort1	UTSW	3	108,233,015 (GRCm39)	missense	probably damaging	1.00
R1872:Sort1	UTSW	3	108,248,011 (GRCm39)	missense	probably benign	0.01
R1986:Sort1	UTSW	3	108,253,043 (GRCm39)	missense	possibly damaging	0.71
R2130:Sort1	UTSW	3	108,259,002 (GRCm39)	missense	probably benign
R2131:Sort1	UTSW	3	108,259,002 (GRCm39)	missense	probably benign
R2133:Sort1	UTSW	3	108,259,002 (GRCm39)	missense	probably benign
R2362:Sort1	UTSW	3	108,253,981 (GRCm39)	missense	possibly damaging	0.89
R3436:Sort1	UTSW	3	108,245,123 (GRCm39)	missense	probably damaging	1.00
R3548:Sort1	UTSW	3	108,245,225 (GRCm39)	missense	possibly damaging	0.83
R3700:Sort1	UTSW	3	108,263,955 (GRCm39)	nonsense	probably null
R4496:Sort1	UTSW	3	108,217,461 (GRCm39)	missense	probably benign	0.17
R4616:Sort1	UTSW	3	108,262,857 (GRCm39)	missense	possibly damaging	0.66
R4632:Sort1	UTSW	3	108,253,994 (GRCm39)	missense	probably damaging	1.00
R4749:Sort1	UTSW	3	108,263,639 (GRCm39)	nonsense	probably null
R4994:Sort1	UTSW	3	108,235,385 (GRCm39)	missense	probably damaging	0.99
R5187:Sort1	UTSW	3	108,231,992 (GRCm39)	missense	probably damaging	1.00
R5753:Sort1	UTSW	3	108,253,090 (GRCm39)	missense	probably damaging	1.00
R6019:Sort1	UTSW	3	108,264,549 (GRCm39)	missense	possibly damaging	0.77
R6262:Sort1	UTSW	3	108,217,527 (GRCm39)	missense	probably damaging	1.00
R7484:Sort1	UTSW	3	108,246,141 (GRCm39)	missense	probably damaging	1.00
R7512:Sort1	UTSW	3	108,233,323 (GRCm39)	splice site	probably null
R8076:Sort1	UTSW	3	108,246,183 (GRCm39)	missense	probably damaging	1.00
R8222:Sort1	UTSW	3	108,241,951 (GRCm39)	missense	probably benign
R8871:Sort1	UTSW	3	108,262,887 (GRCm39)	critical splice donor site	probably null
R8894:Sort1	UTSW	3	108,246,228 (GRCm39)	missense	probably damaging	1.00
R9169:Sort1	UTSW	3	108,247,994 (GRCm39)	nonsense	probably null
Z1177:Sort1	UTSW	3	108,191,696 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATCTGCAAGGACGCCATAGC -3'
(R):5'- ATCACAGAAGGTCTACTAGATGGTG -3'

Sequencing Primer
(F):5'- GCAAGGACGCCATAGCTTTCC -3'
(R):5'- ATCGCTCACTCAGAACCGTGTG -3'

Posted On

2019-09-13