Mutagenetix > Incidental Mutation

Incidental Mutation 'R5187:Sort1'

397947

Institutional Source

Beutler Lab

Gene Symbol

Sort1

Ensembl Gene

ENSMUSG00000068747

Gene Name

sortilin 1

Synonyms

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

MMRRC Submission

042766-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.794) question?

Stock #

R5187 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108191398-108268827 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108231992 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 172 (I172N)

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: I172N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099692
Gene: ENSMUSG00000068747
AA Change: I172N

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: I172N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123564
Gene: ENSMUSG00000068747
AA Change: I172N

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Abcg5	A	G	17: 84,965,992 (GRCm39)	L628S	probably damaging	Het
Acbd3	C	T	1: 180,564,297 (GRCm39)	R201*	probably null	Het
Adsl	A	G	15: 80,833,106 (GRCm39)		probably benign	Het
Asic1	GCACC	GCACCACC	15: 99,596,684 (GRCm39)		probably benign	Het
Cachd1	T	C	4: 100,823,397 (GRCm39)	V483A	possibly damaging	Het
Calm1	T	C	12: 100,166,472 (GRCm39)	S19P	probably benign	Het
Casq1	T	C	1: 172,040,641 (GRCm39)	N313S	possibly damaging	Het
Cav2	G	T	6: 17,286,935 (GRCm39)	A64S	possibly damaging	Het
Ccdc167	C	A	17: 29,924,485 (GRCm39)	A39S	possibly damaging	Het
Cd274	T	C	19: 29,359,936 (GRCm39)	L247P	probably benign	Het
Cdhr5	T	C	7: 140,854,361 (GRCm39)	E138G	probably damaging	Het
Cltb	C	T	13: 54,741,693 (GRCm39)	C81Y	probably benign	Het
Clvs1	T	C	4: 9,281,865 (GRCm39)	L103P	possibly damaging	Het
Cntrob	G	T	11: 69,212,717 (GRCm39)	Q106K	possibly damaging	Het
Ctsh	T	C	9: 89,936,643 (GRCm39)	L14P	probably damaging	Het
Cubn	T	C	2: 13,292,379 (GRCm39)	N3268S	probably damaging	Het
Cyb5r4	T	C	9: 86,909,001 (GRCm39)	V26A	possibly damaging	Het
Ddx18	A	G	1: 121,489,857 (GRCm39)	I184T	probably damaging	Het
Ddx60	T	A	8: 62,427,222 (GRCm39)	W766R	probably damaging	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dnah5	G	A	15: 28,272,318 (GRCm39)	V1041I	probably benign	Het
Dnajc21	A	T	15: 10,464,050 (GRCm39)	N38K	probably benign	Het
Ermap	T	C	4: 119,043,015 (GRCm39)		probably null	Het
Fryl	A	G	5: 73,243,943 (GRCm39)	L1209P	possibly damaging	Het
Gm5093	T	C	17: 46,750,799 (GRCm39)	E76G	possibly damaging	Het
Grk6	T	C	13: 55,599,519 (GRCm39)	C169R	probably damaging	Het
Hmgn1	A	T	16: 95,923,627 (GRCm39)		probably null	Het
Lpcat2b	T	A	5: 107,582,001 (GRCm39)	Y443*	probably null	Het
Macf1	T	A	4: 123,365,882 (GRCm39)	M1395L	probably benign	Het
Mllt10	C	T	2: 18,213,585 (GRCm39)	Q997*	probably null	Het
Mocos	T	A	18: 24,825,611 (GRCm39)	V722E	probably damaging	Het
Moxd2	A	T	6: 40,856,271 (GRCm39)	L534M	probably benign	Het
Mphosph10	T	C	7: 64,035,568 (GRCm39)	M368V	possibly damaging	Het
Myo15a	G	A	11: 60,394,440 (GRCm39)	G2383D	probably damaging	Het
Myo5b	T	C	18: 74,834,745 (GRCm39)	I935T	possibly damaging	Het
Ndst4	T	A	3: 125,231,560 (GRCm39)	L43H	probably damaging	Het
Niban1	T	A	1: 151,579,580 (GRCm39)	L433Q	possibly damaging	Het
Nsl1	A	G	1: 190,807,387 (GRCm39)	N189D	probably benign	Het
Odad1	A	G	7: 45,578,540 (GRCm39)	I77V	probably damaging	Het
Or51e1	A	T	7: 102,358,868 (GRCm39)	H134L	probably damaging	Het
Pcdh8	T	C	14: 80,007,594 (GRCm39)	D323G	probably damaging	Het
Pkhd1	A	G	1: 20,279,448 (GRCm39)	S2957P	possibly damaging	Het
Prdm9	T	G	17: 15,783,155 (GRCm39)	E42D	probably damaging	Het
Rasal1	C	A	5: 120,813,460 (GRCm39)	H611Q	probably benign	Het
Relch	T	A	1: 105,646,534 (GRCm39)	L620*	probably null	Het
Rif1	T	A	2: 51,971,301 (GRCm39)	W260R	probably damaging	Het
Rpain	A	G	11: 70,864,658 (GRCm39)	D115G	probably benign	Het
Rpl3l	T	C	17: 24,951,429 (GRCm39)	V110A	possibly damaging	Het
Ryr2	T	A	13: 11,787,338 (GRCm39)	I1012F	probably damaging	Het
Sema4f	A	G	6: 82,894,631 (GRCm39)	V480A	probably benign	Het
Slc35a3	T	A	3: 116,474,794 (GRCm39)	K199N	probably damaging	Het
Slc5a6	T	C	5: 31,200,322 (GRCm39)	Y121C	probably damaging	Het
Slc7a14	T	C	3: 31,291,514 (GRCm39)		probably null	Het
Spink5	C	A	18: 44,122,518 (GRCm39)	H328N	probably damaging	Het
Tbl1xr1	A	G	3: 22,263,770 (GRCm39)	D504G	probably damaging	Het
Tcaf3	C	T	6: 42,573,954 (GRCm39)	C86Y	possibly damaging	Het
Tfap2e	T	C	4: 126,628,434 (GRCm39)	D174G	probably benign	Het
Tmem42	T	C	9: 122,851,232 (GRCm39)	V65A	probably damaging	Het
Vmn1r225	C	G	17: 20,723,177 (GRCm39)	T206R	probably damaging	Het
Vmn2r38	A	G	7: 9,100,571 (GRCm39)	F65S	probably benign	Het
Vmn2r87	A	T	10: 130,333,208 (GRCm39)	L14Q	probably null	Het
Xirp2	T	C	2: 67,345,711 (GRCm39)	S2651P	probably benign	Het
Zfp429	G	A	13: 67,538,959 (GRCm39)	L162F	probably damaging	Het
Zhx1	A	T	15: 57,915,819 (GRCm39)	M809K	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
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
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'- CCTGACTGAGAAAATCCTGAGAGAG -3'
(R):5'- TGTATCTTGGATGTGAACCAGG -3'

Sequencing Primer
(F):5'- GGGATAAAGACTAAGGATTCCGGC -3'
(R):5'- TTGAAGCAGCTGGTCACATC -3'

Posted On

2016-07-06