Mutagenetix > Incidental Mutation

Incidental Mutation 'R7164:Nhlrc2'

557831

Institutional Source

Beutler Lab

Gene Symbol

Nhlrc2

Ensembl Gene

ENSMUSG00000025078

Gene Name

NHL repeat containing 2

Synonyms

MMRRC Submission

045331-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7164 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56548261-56598846 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56592499 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 493 (D493G)

Ref Sequence

ENSEMBL: ENSMUSP00000071370 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071423]

AlphaFold

Q8BZW8

Predicted Effect

probably damaging
Transcript: ENSMUST00000071423
AA Change: D493G

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

SMART Domains

Protein: ENSMUSP00000071370
Gene: ENSMUSG00000025078
AA Change: D493G

Domain	Start	End	E-Value	Type
Pfam:Thioredoxin_8	78	174	2.7e-14	PFAM
LY	216	258	8.44e0	SMART
Pfam:NHL	278	304	2.3e-9	PFAM
low complexity region	321	331	N/A	INTRINSIC
Blast:LY	402	446	5e-8	BLAST
LY	467	509	1.91e0	SMART
Pfam:NHL	530	558	1.2e-9	PFAM

Meta Mutation Damage Score

0.9719

Coding Region Coverage

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

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610037L13Rik	C	A	4: 107,894,890 (GRCm38)	D155E	not run	Het
4932415D10Rik	G	A	10: 82,286,229 (GRCm38)	T3649I	probably damaging	Het
Actn2	G	A	13: 12,278,961 (GRCm38)	H558Y	probably damaging	Het
Akap9	G	C	5: 4,060,364 (GRCm38)	E3022D	probably damaging	Het
Anapc2	C	T	2: 25,284,999 (GRCm38)	R710C	probably damaging	Het
Bcl6	G	A	16: 23,966,226 (GRCm38)	R675*	probably null	Het
Carmil3	A	G	14: 55,501,282 (GRCm38)	E844G	probably damaging	Het
Cdk17	T	G	10: 93,232,481 (GRCm38)	S367A	probably benign	Het
Cfap206	T	A	4: 34,719,656 (GRCm38)	M253L	probably benign	Het
Chd3	T	G	11: 69,362,306 (GRCm38)	K228Q	probably damaging	Het
Cit	T	A	5: 115,985,787 (GRCm38)	I1503N	possibly damaging	Het
Csn1s1	A	G	5: 87,674,228 (GRCm38)	N119S	possibly damaging	Het
Degs1	A	G	1: 182,279,125 (GRCm38)	S226P	probably damaging	Het
Espl1	T	C	15: 102,313,203 (GRCm38)	W976R	probably damaging	Het
Fbxl4	C	T	4: 22,386,218 (GRCm38)	P275L	probably benign	Het
Flnb	A	G	14: 7,915,944 (GRCm38)		probably null	Het
Gm996	T	A	2: 25,578,567 (GRCm38)	H444L	possibly damaging	Het
Gnptab	T	A	10: 88,434,070 (GRCm38)	Y878*	probably null	Het
Gpr89	A	T	3: 96,871,398 (GRCm38)	M453K	probably benign	Het
Igsf5	A	T	16: 96,372,848 (GRCm38)	Q26L	possibly damaging	Het
Inpp5e	T	A	2: 26,407,983 (GRCm38)	D202V	possibly damaging	Het
Itga3	C	T	11: 95,052,479 (GRCm38)	V931M	possibly damaging	Het
Kcnab3	T	C	11: 69,331,358 (GRCm38)		probably null	Het
Klk4	T	C	7: 43,881,698 (GRCm38)	I17T	possibly damaging	Het
Lrrc73	T	C	17: 46,256,243 (GRCm38)	L206P	probably damaging	Het
Manba	A	T	3: 135,542,388 (GRCm38)	N346I	probably damaging	Het
Map4k4	T	C	1: 39,973,972 (GRCm38)	Y76H	possibly damaging	Het
Map4k5	T	C	12: 69,830,436 (GRCm38)	T312A	probably benign	Het
Masp2	A	G	4: 148,610,115 (GRCm38)		probably null	Het
Mast1	T	C	8: 84,935,304 (GRCm38)	D63G	possibly damaging	Het
Mtf2	T	A	5: 108,093,369 (GRCm38)	S254T	possibly damaging	Het
Myo16	A	T	8: 10,569,585 (GRCm38)	T1379S	unknown	Het
Myo5a	A	G	9: 75,180,153 (GRCm38)	E1097G	probably benign	Het
Nat1	T	C	8: 67,491,677 (GRCm38)	V238A	possibly damaging	Het
Olfr1165-ps	T	C	2: 88,101,832 (GRCm38)	K52E	probably damaging	Het
Olfr1331	C	T	4: 118,869,725 (GRCm38)	P315S	probably benign	Het
Olfr1462	A	T	19: 13,190,906 (GRCm38)	M80L	probably benign	Het
Olfr291	A	G	7: 84,857,043 (GRCm38)	I227V	possibly damaging	Het
Olfr50	T	C	2: 36,793,697 (GRCm38)	S154P	probably benign	Het
Olfr919	A	G	9: 38,698,219 (GRCm38)	I49T	possibly damaging	Het
Pcsk5	C	T	19: 17,451,985 (GRCm38)	C1543Y	probably damaging	Het
Pde4d	A	G	13: 109,032,688 (GRCm38)	D88G	probably benign	Het
Pld5	A	T	1: 176,213,621 (GRCm38)	M1K	probably null	Het
Prmt6	A	G	3: 110,250,364 (GRCm38)	M203T	probably benign	Het
Prr14l	A	T	5: 32,829,166 (GRCm38)	V995D	probably damaging	Het
Psg18	T	C	7: 18,350,937 (GRCm38)	E199G	possibly damaging	Het
Pth1r	A	G	9: 110,723,747 (GRCm38)	I439T	possibly damaging	Het
Ptprc	T	A	1: 138,117,862 (GRCm38)	I87F	probably benign	Het
Slc44a1	T	C	4: 53,528,711 (GRCm38)	S154P	probably benign	Het
Slco1c1	T	A	6: 141,542,129 (GRCm38)	Y192*	probably null	Het
Spag16	A	G	1: 70,724,866 (GRCm38)	H615R	possibly damaging	Het
Tas2r114	G	A	6: 131,689,765 (GRCm38)	A100V	possibly damaging	Het
U2af1l4	T	C	7: 30,565,119 (GRCm38)	S103P	probably benign	Het
Usp10	T	C	8: 119,942,108 (GRCm38)	S383P	probably damaging	Het
Vmn2r113	A	G	17: 22,948,163 (GRCm38)	R505G	probably benign	Het
Vmn2r75	A	C	7: 86,165,384 (GRCm38)	D300E	probably damaging	Het
Zfp318	T	A	17: 46,397,306 (GRCm38)		probably null	Het
Zfp318	T	C	17: 46,405,939 (GRCm38)	V999A	probably damaging	Het
Zfp324	A	T	7: 12,968,883 (GRCm38)	H58L	probably damaging	Het
Zfp707	A	G	15: 75,975,118 (GRCm38)	E339G	possibly damaging	Het

Other mutations in Nhlrc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01307:Nhlrc2	APN	19	56,551,799 (GRCm38)	nonsense	probably null
IGL01524:Nhlrc2	APN	19	56,576,155 (GRCm38)	missense	probably benign	0.39
IGL01570:Nhlrc2	APN	19	56,574,787 (GRCm38)	missense	possibly damaging	0.87
IGL01653:Nhlrc2	APN	19	56,570,850 (GRCm38)	missense	probably benign	0.25
IGL02256:Nhlrc2	APN	19	56,597,361 (GRCm38)	missense	probably benign	0.10
IGL02303:Nhlrc2	APN	19	56,574,848 (GRCm38)	missense	probably damaging	1.00
IGL02349:Nhlrc2	APN	19	56,591,719 (GRCm38)	missense	possibly damaging	0.94
IGL02501:Nhlrc2	APN	19	56,570,654 (GRCm38)	nonsense	probably null
R0270:Nhlrc2	UTSW	19	56,551,870 (GRCm38)	missense	probably damaging	1.00
R0454:Nhlrc2	UTSW	19	56,570,527 (GRCm38)	missense	probably damaging	1.00
R2022:Nhlrc2	UTSW	19	56,597,278 (GRCm38)	missense	probably benign	0.06
R3854:Nhlrc2	UTSW	19	56,588,271 (GRCm38)	critical splice donor site	probably null
R3855:Nhlrc2	UTSW	19	56,588,271 (GRCm38)	critical splice donor site	probably null
R3856:Nhlrc2	UTSW	19	56,588,271 (GRCm38)	critical splice donor site	probably null
R4659:Nhlrc2	UTSW	19	56,576,267 (GRCm38)	missense	possibly damaging	0.86
R4767:Nhlrc2	UTSW	19	56,570,466 (GRCm38)	missense	probably benign	0.03
R4992:Nhlrc2	UTSW	19	56,570,534 (GRCm38)	missense	probably benign	0.00
R5877:Nhlrc2	UTSW	19	56,570,584 (GRCm38)	missense	probably damaging	1.00
R6191:Nhlrc2	UTSW	19	56,570,859 (GRCm38)	missense	probably benign	0.00
R6755:Nhlrc2	UTSW	19	56,591,784 (GRCm38)	missense	probably benign	0.12
R7507:Nhlrc2	UTSW	19	56,597,378 (GRCm38)	missense	not run
R7609:Nhlrc2	UTSW	19	56,594,896 (GRCm38)	missense	probably benign
R8811:Nhlrc2	UTSW	19	56,594,912 (GRCm38)	missense	probably benign	0.03
R8849:Nhlrc2	UTSW	19	56,591,752 (GRCm38)	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- GGGAAAAGTCAGAGCTTCCCAG -3'
(R):5'- GCATTTCCCTCAGTTCAGACAC -3'

Sequencing Primer
(F):5'- GCTTCCCAGCTTTAGAAACACTGG -3'
(R):5'- ATTTCCCTCAGTTCAGACACCGTAAG -3'

Posted On

2019-06-26