Mutagenetix > Incidental Mutation

Incidental Mutation 'R7512:Sort1'

628185

Institutional Source

Beutler Lab

Gene Symbol

Sort1

Ensembl Gene

ENSMUSG00000068747

Gene Name

sortilin 1

Synonyms

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

MMRRC Submission

045585-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.794) question?

Stock #

R7512 (G1)

Quality Score

70.0074

Status

Validated

Chromosome

Chromosomal Location

108191398-108268827 bp(+) (GRCm39)

Type of Mutation

splice site (194 bp from exon)

DNA Base Change (assembly)

T to A at 108233323 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123564 (fasta)

Gene Model

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

AlphaFold

Q6PHU5

Predicted Effect

probably null
Transcript: ENSMUST00000102632

SMART Domains

Protein: ENSMUSP00000099692
Gene: ENSMUSG00000068747

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 null
Transcript: ENSMUST00000135636

SMART Domains

Protein: ENSMUSP00000123564
Gene: ENSMUSG00000068747

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (59/59)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	C	T	11: 109,829,275 (GRCm39)	A1395T	probably benign	Het
Ank3	A	G	10: 69,826,691 (GRCm39)	K1787E		Het
Atg2a	C	T	19: 6,310,106 (GRCm39)	A1763V	probably damaging	Het
Bdp1	T	C	13: 100,187,457 (GRCm39)	I1637V	probably benign	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Camsap3	A	G	8: 3,648,740 (GRCm39)	T20A	probably benign	Het
Ccnt2	T	A	1: 127,730,031 (GRCm39)	S303T	possibly damaging	Het
Cdh3	C	T	8: 107,265,640 (GRCm39)	Q228*	probably null	Het
Col19a1	C	T	1: 24,356,788 (GRCm39)	G632R	probably damaging	Het
Dock2	A	C	11: 34,262,542 (GRCm39)	C938G	possibly damaging	Het
Dync1i1	G	T	6: 5,969,410 (GRCm39)	V412L	possibly damaging	Het
Eif1ad6	G	T	12: 87,668,751 (GRCm39)	E128*	probably null	Het
Entrep2	C	T	7: 64,805,918 (GRCm39)	A52T	probably benign	Het
Fam185a	G	A	5: 21,652,356 (GRCm39)		probably null	Het
Fcho1	A	G	8: 72,169,507 (GRCm39)	L133P	possibly damaging	Het
Galnt12	G	A	4: 47,108,406 (GRCm39)	R181H	possibly damaging	Het
Gen1	A	G	12: 11,310,977 (GRCm39)	V85A	possibly damaging	Het
Gm12185	A	T	11: 48,806,717 (GRCm39)	I158K	probably benign	Het
Gm5624	T	C	14: 44,799,312 (GRCm39)	R82G		Het
Grap2	A	C	15: 80,532,754 (GRCm39)	N307T	probably benign	Het
H6pd	A	G	4: 150,080,405 (GRCm39)	F147L	probably benign	Het
Haspin	A	T	11: 73,027,418 (GRCm39)	I557N	probably damaging	Het
Hectd4	A	T	5: 121,435,172 (GRCm39)	K961N	possibly damaging	Het
Helz2	A	G	2: 180,872,647 (GRCm39)	M2495T	probably benign	Het
Helz2	A	T	2: 180,877,393 (GRCm39)		probably null	Het
Impdh1	T	C	6: 29,207,168 (GRCm39)	I59V	probably benign	Het
Kcnn1	A	T	8: 71,307,293 (GRCm39)	L200Q	possibly damaging	Het
Kif5c	T	A	2: 49,590,977 (GRCm39)	H276Q	probably damaging	Het
Kntc1	T	C	5: 123,929,001 (GRCm39)	L1259P	probably damaging	Het
Krtap4-1	A	T	11: 99,518,859 (GRCm39)	C50*	probably null	Het
Lat2	T	A	5: 134,634,798 (GRCm39)	D114V	probably damaging	Het
Lrrc41	A	G	4: 115,950,191 (GRCm39)	T535A	possibly damaging	Het
Ly75	A	T	2: 60,164,907 (GRCm39)	V757D	probably damaging	Het
Masp1	C	A	16: 23,288,874 (GRCm39)	R642L	probably damaging	Het
Morn3	A	G	5: 123,175,343 (GRCm39)		probably null	Het
Mpl	A	T	4: 118,306,089 (GRCm39)	I384N		Het
Mtmr14	C	T	6: 113,245,652 (GRCm39)	Q409*	probably null	Het
Nek1	T	A	8: 61,583,179 (GRCm39)	D1272E	probably benign	Het
Oit3	T	C	10: 59,274,716 (GRCm39)	Y28C	probably damaging	Het
Or2z8	T	A	8: 72,812,367 (GRCm39)	I281N	probably damaging	Het
Or4x12-ps1	A	G	2: 89,916,040 (GRCm39)	I255T	possibly damaging	Het
Or5ac22	T	A	16: 59,135,390 (GRCm39)	N127Y	probably damaging	Het
Pcdh15	T	C	10: 74,477,214 (GRCm39)	Y186H	possibly damaging	Het
Pcdhgb1	T	A	18: 37,815,418 (GRCm39)	D636E	probably damaging	Het
Pdgfra	A	T	5: 75,355,675 (GRCm39)	R1062*	probably null	Het
Pds5b	T	C	5: 150,711,807 (GRCm39)	F922L	probably damaging	Het
Pip5k1c	G	A	10: 81,150,953 (GRCm39)		probably null	Het
Ppp2r3d	T	C	9: 101,052,532 (GRCm39)	T226A	possibly damaging	Het
Ptprh	G	A	7: 4,574,780 (GRCm39)	T413I	possibly damaging	Het
Rora	C	A	9: 69,281,367 (GRCm39)	D382E	probably benign	Het
Sacs	T	A	14: 61,441,879 (GRCm39)	N1308K	probably benign	Het
Sgce	C	T	6: 4,707,192 (GRCm39)	D218N	possibly damaging	Het
Slc34a3	A	T	2: 25,122,253 (GRCm39)		probably null	Het
Slit1	T	C	19: 41,589,074 (GRCm39)	Y1471C	probably damaging	Het
Smarca2	G	T	19: 26,661,209 (GRCm39)	V935L	possibly damaging	Het
Smchd1	T	C	17: 71,688,364 (GRCm39)	N1298S	possibly damaging	Het
Spata13	T	C	14: 60,989,226 (GRCm39)	L964P	probably damaging	Het
Spata31h1	G	A	10: 82,128,469 (GRCm39)	L1514F	probably benign	Het
Trav7-6	C	A	14: 53,954,552 (GRCm39)	D47E	probably benign	Het
Ubap2l	A	G	3: 89,917,803 (GRCm39)	F864L	unknown	Het
Vmn2r102	C	T	17: 19,914,363 (GRCm39)	P643S	probably damaging	Het
Zfp112	T	A	7: 23,824,604 (GRCm39)	C195S	possibly damaging	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	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
R7369:Sort1	UTSW	3	108,258,996 (GRCm39)	missense	probably damaging	1.00
R7484:Sort1	UTSW	3	108,246,141 (GRCm39)	missense	probably damaging	1.00
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'- AGTCCAGTTGAACTTGCCTTTC -3'
(R):5'- CAGCTCAAGAAAGATGACTGC -3'

Sequencing Primer
(F):5'- GAACTTGCCTTTCCTTGTTTACAGTG -3'
(R):5'- ACTGCTCTTCCAAAGGTCTGGAG -3'

Posted On

2020-02-04