Mutagenetix > Incidental Mutation

Incidental Mutation 'R4992:Nhlrc2'

386311

Institutional Source

Beutler Lab

Gene Symbol

Nhlrc2

Ensembl Gene

ENSMUSG00000025078

Gene Name

NHL repeat containing 2

Synonyms

MMRRC Submission

042586-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4992 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56548261-56598846 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 56570534 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 150 (D150E)

Ref Sequence

ENSEMBL: ENSMUSP00000071370 (fasta)

Gene Model

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

AlphaFold

Q8BZW8

Predicted Effect

probably benign
Transcript: ENSMUST00000071423
AA Change: D150E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000071370
Gene: ENSMUSG00000025078
AA Change: D150E

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

0.0672

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

98% (84/86)

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	G	A	15: 82,064,002 (GRCm38)	R700Q	possibly damaging	Het
4930444P10Rik	T	A	1: 16,080,877 (GRCm38)	E27V	probably damaging	Het
Acsm4	T	A	7: 119,711,417 (GRCm38)	I509N	probably benign	Het
Asb18	T	C	1: 89,952,863 (GRCm38)	M143V	probably benign	Het
Birc6	A	G	17: 74,689,256 (GRCm38)	D4475G	probably benign	Het
Bsn	A	T	9: 108,115,548 (GRCm38)	S1002T	probably damaging	Het
Bub3	T	C	7: 131,560,806 (GRCm38)	S33P	probably damaging	Het
Ccna1	T	A	3: 55,049,890 (GRCm38)	R35S	probably damaging	Het
Cdc23	T	A	18: 34,646,919 (GRCm38)	M119L	probably benign	Het
Ces1a	A	G	8: 93,045,022 (GRCm38)	V49A	probably benign	Het
Chil1	A	T	1: 134,188,626 (GRCm38)	E282D	probably benign	Het
Crocc	G	A	4: 141,046,666 (GRCm38)	A220V	probably damaging	Het
Cstf1	A	G	2: 172,377,800 (GRCm38)	Y277C	probably damaging	Het
D930020B18Rik	C	T	10: 121,654,762 (GRCm38)	P89L	probably damaging	Het
D930020B18Rik	C	G	10: 121,654,761 (GRCm38)	P89A	probably damaging	Het
Dennd5a	A	G	7: 109,894,712 (GRCm38)	S1262P	probably damaging	Het
Dnajb5	G	A	4: 42,953,386 (GRCm38)		probably null	Het
E330034G19Rik	A	G	14: 24,306,996 (GRCm38)	K200R	unknown	Het
Ect2l	A	G	10: 18,172,729 (GRCm38)	F156S	probably benign	Het
Egf	T	C	3: 129,711,530 (GRCm38)		probably null	Het
Elmo1	T	C	13: 20,342,519 (GRCm38)	F413S	probably damaging	Het
Elmo3	T	A	8: 105,309,501 (GRCm38)	Y607*	probably null	Het
Eno3	A	G	11: 70,658,647 (GRCm38)	D98G	probably damaging	Het
Ephb2	A	G	4: 136,660,839 (GRCm38)	V651A	probably damaging	Het
Fbp1	C	T	13: 62,865,074 (GRCm38)	V102I	probably benign	Het
Gcn1l1	T	C	5: 115,599,166 (GRCm38)	V1321A	probably benign	Het
Gimd1	A	T	3: 132,634,957 (GRCm38)	Y78F	probably benign	Het
Glmn	T	G	5: 107,557,301 (GRCm38)	D483A	probably damaging	Het
Gsr	C	T	8: 33,693,913 (GRCm38)	T401I	probably damaging	Het
Htr3b	G	A	9: 48,959,218 (GRCm38)	H62Y	possibly damaging	Het
Ifna6	T	C	4: 88,827,540 (GRCm38)	V42A	probably benign	Het
Igkv4-80	A	C	6: 69,016,665 (GRCm38)	S81A	probably benign	Het
Inpp4b	A	T	8: 82,033,208 (GRCm38)	R627S	probably damaging	Het
Kif13a	C	T	13: 46,777,163 (GRCm38)	V142M	probably damaging	Het
Lims1	A	C	10: 58,410,241 (GRCm38)		probably benign	Het
Ltn1	T	C	16: 87,405,587 (GRCm38)	T1059A	possibly damaging	Het
Lyst	T	C	13: 13,661,163 (GRCm38)	L1810P	probably damaging	Het
Mboat1	T	G	13: 30,202,360 (GRCm38)	I119R	possibly damaging	Het
Mgat3	T	A	15: 80,212,542 (GRCm38)	D523E	probably benign	Het
Mphosph9	T	C	5: 124,304,190 (GRCm38)	E395G	probably damaging	Het
Mtcl1	G	T	17: 66,342,839 (GRCm38)	P1877Q	probably damaging	Het
Myo6	T	C	9: 80,283,510 (GRCm38)	V781A	possibly damaging	Het
Ncoa3	T	A	2: 166,069,939 (GRCm38)	M1395K	probably benign	Het
Nlrp9a	T	C	7: 26,557,386 (GRCm38)	V54A	probably benign	Het
Olfr392	G	A	11: 73,814,320 (GRCm38)	T254I	probably damaging	Het
Olfr411	A	G	11: 74,347,197 (GRCm38)	I129T	probably damaging	Het
Parp14	A	T	16: 35,841,142 (GRCm38)	C1479S	probably benign	Het
Pdcd1lg2	T	C	19: 29,446,084 (GRCm38)	V176A	probably damaging	Het
Pibf1	T	A	14: 99,150,667 (GRCm38)	N416K	probably damaging	Het
Polb	A	T	8: 22,645,071 (GRCm38)	V115E	probably damaging	Het
Polq	T	A	16: 37,061,162 (GRCm38)	N1229K	possibly damaging	Het
Ppp1r21	A	T	17: 88,569,080 (GRCm38)	D440V	probably benign	Het
Ppp2ca	T	A	11: 52,113,206 (GRCm38)	H63Q	possibly damaging	Het
Prl7a1	C	T	13: 27,635,686 (GRCm38)		probably null	Het
Rgs1	C	A	1: 144,246,322 (GRCm38)	K77N	probably damaging	Het
Rnf112	T	A	11: 61,452,711 (GRCm38)	I100F	possibly damaging	Het
Rnf139	G	T	15: 58,898,476 (GRCm38)	E117*	probably null	Het
Robo1	G	A	16: 72,979,868 (GRCm38)	V743I	probably damaging	Het
Scarf1	T	C	11: 75,522,230 (GRCm38)	L434P	probably damaging	Het
Scarf1	T	C	11: 75,526,015 (GRCm38)	V761A	probably benign	Het
Sgsm1	A	T	5: 113,282,620 (GRCm38)	S300T	possibly damaging	Het
Slc26a7	T	G	4: 14,565,508 (GRCm38)	T192P	probably damaging	Het
Smarcc2	A	G	10: 128,474,710 (GRCm38)	K403E	probably damaging	Het
Snai3	G	A	8: 122,456,332 (GRCm38)	T158M	possibly damaging	Het
Spata31d1a	T	C	13: 59,703,151 (GRCm38)	N388D	probably benign	Het
Sptlc3	G	A	2: 139,596,003 (GRCm38)	V406I	probably benign	Het
Tgds	A	C	14: 118,117,763 (GRCm38)	Y197D	probably damaging	Het
Tll1	G	T	8: 64,093,944 (GRCm38)	R323S	probably damaging	Het
Tmem55b	A	G	14: 50,929,233 (GRCm38)	V179A	probably damaging	Het
Trim14	A	G	4: 46,507,110 (GRCm38)	Y369H	probably damaging	Het
Ube2nl	C	T	7: 61,549,364 (GRCm38)		noncoding transcript	Het
Ube3a	T	A	7: 59,284,820 (GRCm38)	D560E	possibly damaging	Het
Vmn2r10	A	G	5: 108,997,726 (GRCm38)	V505A	possibly damaging	Het
Vmn2r114	T	G	17: 23,291,791 (GRCm38)	I572L	probably benign	Het
Vmn2r26	A	T	6: 124,026,111 (GRCm38)	Q160L	probably benign	Het
Vmn2r75	A	C	7: 86,166,167 (GRCm38)		probably null	Het
Vps8	A	G	16: 21,461,408 (GRCm38)	K336E	possibly damaging	Het
Zfp324	T	C	7: 12,969,373 (GRCm38)	S32P	probably benign	Het
Zfp366	T	C	13: 99,229,495 (GRCm38)	I388T	possibly damaging	Het
Zfp68	A	T	5: 138,607,337 (GRCm38)	N203K	possibly damaging	Het
Zhx2	A	T	15: 57,823,587 (GRCm38)	N784I	probably 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
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
R7164:Nhlrc2	UTSW	19	56,592,499 (GRCm38)	missense	probably damaging	1.00
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'- ATAAGCGAGCTCTAGTGTATGG -3'
(R):5'- AGGTGGCAGAGACTCTTTGAAG -3'

Sequencing Primer
(F):5'- CTCGGCTAAGTTTCCCAA -3'
(R):5'- ATTCCAATTTTTCCATCTCTGATCTG -3'

Posted On

2016-05-10