Mutagenetix > Incidental Mutation

Incidental Mutation 'R9512:Nln'

718243

Institutional Source

Beutler Lab

Gene Symbol

Nln

Ensembl Gene

ENSMUSG00000021710

Gene Name

neurolysin (metallopeptidase M3 family)

Synonyms

4930472G13Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R9512 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104159565-104246122 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104198274 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 179 (H179Q)

Ref Sequence

ENSEMBL: ENSMUSP00000104938 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109315] [ENSMUST00000224945]

AlphaFold

Q91YP2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109315
AA Change: H179Q

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104938
Gene: ENSMUSG00000021710
AA Change: H179Q

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M3	251	701	1.8e-158	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000224945
AA Change: H179Q

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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 metallopeptidase M3 protein family that cleaves neurotensin at the Pro10-Tyr11 bond, leading to the formation of neurotensin(1-10) and neurotensin(11-13). The encoded protein is likely involved in the termination of the neurotensinergic signal in the central nervous system and in the gastrointestinal tract.[provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for a null allele exhibit increased glucose tolerance, insulin sensitivity, and gluconeogensis. Mice also show decreased body weight and run less in a low intensity regime to exhaustion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	C	T	7: 120,022,963 (GRCm39)	A33V	probably benign	Het
Abcb9	T	C	5: 124,228,176 (GRCm39)	T22A	possibly damaging	Het
Alkbh8	G	T	9: 3,367,959 (GRCm39)	R325M	probably damaging	Het
Ap1g1	T	C	8: 110,529,687 (GRCm39)	S36P	probably damaging	Het
Arid1b	A	G	17: 5,391,864 (GRCm39)	D1745G	probably benign	Het
Bnipl	A	G	3: 95,150,369 (GRCm39)	V292A	probably benign	Het
Brca2	C	T	5: 150,454,546 (GRCm39)	A103V	probably benign	Het
Capn3	G	A	2: 120,326,535 (GRCm39)	E576K	probably damaging	Het
Eif2ak4	G	A	2: 118,293,196 (GRCm39)	G1372S	probably damaging	Het
Ephb6	G	A	6: 41,593,030 (GRCm39)	E423K	possibly damaging	Het
Esrp1	A	G	4: 11,365,449 (GRCm39)	V213A	probably benign	Het
Fndc3a	T	C	14: 72,827,424 (GRCm39)	E87G	probably damaging	Het
Foxn1	G	T	11: 78,262,035 (GRCm39)	S111R		Het
Fyb2	G	A	4: 104,853,100 (GRCm39)	R564Q	probably benign	Het
Henmt1	A	G	3: 108,867,445 (GRCm39)	I327V	probably benign	Het
Hsdl2	A	T	4: 59,594,464 (GRCm39)	R117*	probably null	Het
Kif18a	A	G	2: 109,171,517 (GRCm39)	T865A	probably benign	Het
Lrrcc1	T	C	3: 14,613,301 (GRCm39)	L463P	possibly damaging	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Meiosin	T	A	7: 18,838,860 (GRCm39)	T156S	unknown	Het
Mroh4	C	A	15: 74,485,095 (GRCm39)	R539L	probably benign	Het
Nrg2	A	G	18: 36,179,010 (GRCm39)	F309L	probably benign	Het
Ntng2	T	C	2: 29,117,969 (GRCm39)	T160A	possibly damaging	Het
Or1j10	T	C	2: 36,267,325 (GRCm39)	L179P	possibly damaging	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Or4x12-ps1	A	G	2: 89,916,721 (GRCm39)	L28P	possibly damaging	Het
Or9s14	T	C	1: 92,535,990 (GRCm39)	C144R	probably benign	Het
Orc6	T	A	8: 86,029,522 (GRCm39)	I98N		Het
Pcdha8	A	C	18: 37,126,624 (GRCm39)	I369L	possibly damaging	Het
Plk2	C	T	13: 110,536,673 (GRCm39)	T655M	probably damaging	Het
Pou1f1	A	G	16: 65,320,502 (GRCm39)	T66A	probably benign	Het
Ppp1r9a	A	T	6: 5,113,681 (GRCm39)	E728D	probably benign	Het
Ppp1r9a	T	C	6: 5,115,364 (GRCm39)	V829A	probably damaging	Het
Psd	T	C	19: 46,306,154 (GRCm39)	K46R	possibly damaging	Het
Slc25a51	T	C	4: 45,399,360 (GRCm39)	I277V	probably benign	Het
Slc9a2	T	G	1: 40,721,258 (GRCm39)	D75E	probably damaging	Het
Slitrk5	A	G	14: 111,917,252 (GRCm39)	Y292C	probably damaging	Het
Snap91	T	G	9: 86,665,392 (GRCm39)	T667P	unknown	Het
Spata16	G	C	3: 26,722,093 (GRCm39)	E205Q	possibly damaging	Het
Stard6	G	A	18: 70,633,601 (GRCm39)	V203I	probably benign	Het
Stra8	G	A	6: 34,909,988 (GRCm39)	A137T	probably benign	Het
Toporsl	A	G	4: 52,610,382 (GRCm39)	T92A	probably benign	Het
Ush2a	A	G	1: 188,643,160 (GRCm39)	N4174S	probably damaging	Het
Vmn1r232	A	C	17: 21,134,416 (GRCm39)	S61R	probably damaging	Het
Zfp263	T	C	16: 3,564,306 (GRCm39)	S199P	probably damaging	Het
Zfp616	G	A	11: 73,975,936 (GRCm39)	C735Y	probably damaging	Het

Other mutations in Nln

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00466:Nln	APN	13	104,172,153 (GRCm39)	missense	probably damaging	1.00
IGL01656:Nln	APN	13	104,198,249 (GRCm39)	splice site	probably null
R0025:Nln	UTSW	13	104,173,399 (GRCm39)	missense	probably damaging	0.98
R0294:Nln	UTSW	13	104,189,087 (GRCm39)	missense	probably damaging	1.00
R1396:Nln	UTSW	13	104,198,261 (GRCm39)	missense	probably benign	0.01
R1657:Nln	UTSW	13	104,173,455 (GRCm39)	missense	possibly damaging	0.94
R2087:Nln	UTSW	13	104,173,877 (GRCm39)	missense	probably damaging	0.96
R2847:Nln	UTSW	13	104,161,533 (GRCm39)	missense	probably damaging	1.00
R3034:Nln	UTSW	13	104,173,947 (GRCm39)	missense	possibly damaging	0.91
R5576:Nln	UTSW	13	104,195,338 (GRCm39)	missense	probably damaging	1.00
R5585:Nln	UTSW	13	104,161,569 (GRCm39)	missense	possibly damaging	0.73
R5882:Nln	UTSW	13	104,196,006 (GRCm39)	missense	probably benign	0.08
R6763:Nln	UTSW	13	104,172,163 (GRCm39)	missense	probably damaging	1.00
R7209:Nln	UTSW	13	104,209,406 (GRCm39)	nonsense	probably null
R7347:Nln	UTSW	13	104,187,355 (GRCm39)	missense	probably damaging	0.96
R7417:Nln	UTSW	13	104,173,478 (GRCm39)	missense	probably damaging	1.00
R7467:Nln	UTSW	13	104,161,530 (GRCm39)	missense	possibly damaging	0.75
R7491:Nln	UTSW	13	104,205,831 (GRCm39)	missense	probably damaging	1.00
R7553:Nln	UTSW	13	104,186,924 (GRCm39)	frame shift	probably null
R7842:Nln	UTSW	13	104,189,137 (GRCm39)	missense	probably benign
R8842:Nln	UTSW	13	104,209,486 (GRCm39)	missense	probably benign	0.24
R9295:Nln	UTSW	13	104,186,924 (GRCm39)	frame shift	probably null
R9544:Nln	UTSW	13	104,198,356 (GRCm39)	missense	probably benign	0.31
R9606:Nln	UTSW	13	104,186,924 (GRCm39)	frame shift	probably null
X0020:Nln	UTSW	13	104,198,318 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTCCTCAAATAAGAGAATGACGG -3'
(R):5'- GGTCTTTAATAGGGCCTGCC -3'

Sequencing Primer
(F):5'- CGGACAGACGAGGGTTATATGTGTG -3'
(R):5'- TTCATGGCCCCACAGAGATGATG -3'

Posted On

2022-07-18