Mutagenetix > Incidental Mutation

Incidental Mutation 'R7484:Sort1'

579981

Institutional Source

Beutler Lab

Gene Symbol

Sort1

Ensembl Gene

ENSMUSG00000068747

Gene Name

sortilin 1

Synonyms

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

MMRRC Submission

045558-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.810) question?

Stock #

R7484 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108191398-108268827 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108246141 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 373 (T373A)

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: T373A

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099692
Gene: ENSMUSG00000068747
AA Change: T373A

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: T373A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123564
Gene: ENSMUSG00000068747
AA Change: T373A

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

Meta Mutation Damage Score

0.2848

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (65/66)

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
Aadacl4fm5	A	G	4: 144,504,521 (GRCm39)	L210P	probably damaging	Het
Acacb	G	A	5: 114,356,923 (GRCm39)	V1285I	probably damaging	Het
Acly	A	T	11: 100,386,789 (GRCm39)	I591N	probably damaging	Het
Acr	T	A	15: 89,457,427 (GRCm39)	V225E	probably damaging	Het
Actr8	A	G	14: 29,714,925 (GRCm39)	D580G	probably damaging	Het
Adamts12	C	A	15: 11,345,734 (GRCm39)	Q1592K	probably benign	Het
Aire	T	C	10: 77,878,404 (GRCm39)	E138G	probably damaging	Het
Apob	C	T	12: 8,056,884 (GRCm39)	Q1789*	probably null	Het
Cbx5	A	C	15: 103,114,256 (GRCm39)		probably null	Het
Cd300lb	A	T	11: 114,819,345 (GRCm39)	W95R	probably damaging	Het
Cdc16	A	G	8: 13,827,605 (GRCm39)	T504A	probably benign	Het
Cenpf	A	G	1: 189,389,018 (GRCm39)	S1605P	probably damaging	Het
Ckap2l	A	G	2: 129,114,455 (GRCm39)	V596A	possibly damaging	Het
Cntn1	T	C	15: 92,151,922 (GRCm39)	W454R	probably benign	Het
Crat	C	T	2: 30,294,577 (GRCm39)	R497Q	probably benign	Het
Csf2rb	A	G	15: 78,223,099 (GRCm39)	T104A	possibly damaging	Het
Cyp4a12b	A	G	4: 115,289,760 (GRCm39)	D209G	possibly damaging	Het
Ddx23	T	C	15: 98,546,570 (GRCm39)	E533G	probably damaging	Het
Dscaml1	A	G	9: 45,660,744 (GRCm39)		probably null	Het
Eif3l	T	G	15: 78,968,336 (GRCm39)	C202G	probably benign	Het
Ephx4	T	G	5: 107,577,612 (GRCm39)	M312R	probably damaging	Het
Erich6	A	T	3: 58,534,112 (GRCm39)		probably null	Het
Far2	G	A	6: 148,075,411 (GRCm39)	D424N	probably damaging	Het
Fat1	C	A	8: 45,489,221 (GRCm39)	N3497K	probably damaging	Het
Fstl3	G	A	10: 79,615,865 (GRCm39)	C117Y	probably damaging	Het
Fyb2	A	T	4: 104,870,499 (GRCm39)	H700L	probably benign	Het
Gm8356	T	A	14: 17,691,282 (GRCm39)	M128L	probably benign	Het
Golim4	G	T	3: 75,805,442 (GRCm39)		probably null	Het
Grm1	T	G	10: 10,622,403 (GRCm39)	D440A	probably benign	Het
Gtf2a1	A	G	12: 91,529,747 (GRCm39)	V322A	probably benign	Het
Hid1	T	C	11: 115,243,407 (GRCm39)		probably null	Het
Igfals	G	A	17: 25,098,962 (GRCm39)	V18M	possibly damaging	Het
Klk1b24	G	T	7: 43,839,688 (GRCm39)		probably null	Het
Lmbr1	T	C	5: 29,551,850 (GRCm39)		probably benign	Het
Lrrc40	T	C	3: 157,746,194 (GRCm39)	S90P	probably benign	Het
Mapk9	T	C	11: 49,763,663 (GRCm39)	Y185H	probably damaging	Het
Marveld2	C	T	13: 100,748,068 (GRCm39)	G337D	probably damaging	Het
Mga	G	T	2: 119,776,710 (GRCm39)	R1539L	probably damaging	Het
Mllt6	T	A	11: 97,563,442 (GRCm39)	S342T	probably benign	Het
Ms4a6c	T	C	19: 11,449,893 (GRCm39)		probably null	Het
Muc16	T	A	9: 18,558,064 (GRCm39)	H2743L	unknown	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Or10ag60	T	C	2: 87,438,281 (GRCm39)	F183S	probably damaging	Het
Or2l13	A	G	16: 19,305,753 (GRCm39)	H55R	possibly damaging	Het
Plcd3	T	G	11: 102,962,545 (GRCm39)	K635N	probably damaging	Het
Prkch	T	A	12: 73,632,301 (GRCm39)		probably null	Het
Rb1cc1	T	C	1: 6,344,441 (GRCm39)	V1570A	probably damaging	Het
Rp1	T	C	1: 4,415,704 (GRCm39)	N1803D	probably benign	Het
Rufy3	T	A	5: 88,746,331 (GRCm39)	V72E	probably benign	Het
Secisbp2l	G	A	2: 125,613,452 (GRCm39)	Q181*	probably null	Het
Sgcb	A	G	5: 73,797,188 (GRCm39)	F191L	possibly damaging	Het
Sgsh	T	A	11: 119,237,183 (GRCm39)	D477V	probably damaging	Het
Shoc1	A	T	4: 59,062,286 (GRCm39)	V924E	probably damaging	Het
Slc22a28	C	A	19: 8,048,492 (GRCm39)	S385I	probably benign	Het
Slc26a3	T	C	12: 31,497,787 (GRCm39)	V47A	probably benign	Het
Slco2a1	A	T	9: 102,945,185 (GRCm39)	I187F	probably damaging	Het
Sltm	T	C	9: 70,481,179 (GRCm39)	S344P	unknown	Het
Stab1	A	G	14: 30,882,274 (GRCm39)	F474L	probably benign	Het
Tbc1d5	G	T	17: 51,224,573 (GRCm39)	A326E	possibly damaging	Het
Tcstv4	A	T	13: 120,770,017 (GRCm39)	K112N	probably damaging	Het
Vwa8	A	C	14: 79,219,674 (GRCm39)		probably null	Het
Wdr70	G	A	15: 7,951,562 (GRCm39)	T425I	probably benign	Het
Zfp30	T	C	7: 29,492,231 (GRCm39)	Y243H	probably benign	Het
Zfp974	A	T	7: 27,611,559 (GRCm39)	N55K	possibly damaging	Het
Zftraf1	A	G	15: 76,530,435 (GRCm39)	L295P	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
R7369:Sort1	UTSW	3	108,258,996 (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'- ATGTTCCAGCCTCTAAGTCGG -3'
(R):5'- ACCATCGGATTCCCCTGTAGAC -3'

Sequencing Primer
(F):5'- AGCCTCTAAGTCGGATGCTAG -3'
(R):5'- TAGCCCACTGAGCTGAAGG -3'

Posted On

2019-10-07