Mutagenetix > Incidental Mutation

Incidental Mutation 'R9358:Lrrc8d'

708515

Institutional Source

Beutler Lab

Gene Symbol

Lrrc8d

Ensembl Gene

ENSMUSG00000046079

Gene Name

leucine rich repeat containing 8D

Synonyms

2810473G09Rik, 4930525N13Rik, Lrrc5

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9358 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

105847829-105963081 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105960358 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 256 (N256S)

Ref Sequence

ENSEMBL: ENSMUSP00000057293 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060531] [ENSMUST00000120847] [ENSMUST00000127686] [ENSMUST00000154807] [ENSMUST00000156630]

AlphaFold

Q8BGR2

Predicted Effect

probably benign
Transcript: ENSMUST00000060531
AA Change: N256S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000057293
Gene: ENSMUSG00000046079
AA Change: N256S

Domain	Start	End	E-Value	Type
Pfam:DUF3733	1	65	5.6e-31	PFAM
Pfam:DUF3733	138	197	2e-24	PFAM
transmembrane domain	366	388	N/A	INTRINSIC
internal_repeat_1	490	607	1.13e-8	PROSPERO
LRR	658	681	1.23e0	SMART
LRR	683	705	2.03e1	SMART
LRR_TYP	706	729	9.58e-3	SMART
LRR	730	751	2.47e2	SMART
LRR	752	775	1.76e-1	SMART
LRR	776	797	1.01e2	SMART
LRR	798	821	3.29e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120847
AA Change: N256S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000113603
Gene: ENSMUSG00000046079
AA Change: N256S

Domain	Start	End	E-Value	Type
Pfam:Pannexin_like	1	385	2.2e-160	PFAM
internal_repeat_1	490	607	1.13e-8	PROSPERO
LRR	658	681	1.23e0	SMART
LRR	683	705	2.03e1	SMART
LRR_TYP	706	729	9.58e-3	SMART
LRR	730	751	2.47e2	SMART
LRR	752	775	1.76e-1	SMART
LRR	776	797	1.01e2	SMART
LRR	798	821	3.29e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127686

Predicted Effect

probably benign
Transcript: ENSMUST00000154807

SMART Domains

Protein: ENSMUSP00000114662
Gene: ENSMUSG00000046079

Domain	Start	End	E-Value	Type
Pfam:DUF3733	1	65	1.8e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156630

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	A	T	3: 121,474,976 (GRCm39)	K149*	probably null	Het
Ap3m2	G	A	8: 23,280,959 (GRCm39)	S365F	possibly damaging	Het
Apob	T	A	12: 8,060,833 (GRCm39)	I3105K	probably benign	Het
Arfgef3	A	G	10: 18,492,628 (GRCm39)	L1261P	probably damaging	Het
Armc8	A	G	9: 99,450,653 (GRCm39)		probably null	Het
Axin2	A	G	11: 108,814,873 (GRCm39)	T254A	probably benign	Het
Cachd1	G	A	4: 100,833,622 (GRCm39)	V800M	probably damaging	Het
Camta1	A	G	4: 151,222,881 (GRCm39)	L892P	probably damaging	Het
Cfap58	C	T	19: 47,962,987 (GRCm39)	R466*	probably null	Het
Cilp	A	G	9: 65,183,269 (GRCm39)	Q391R	probably benign	Het
Cracd	A	T	5: 77,002,836 (GRCm39)	I137F	probably damaging	Het
Ctcfl	T	A	2: 172,960,581 (GRCm39)	M1L	possibly damaging	Het
Dnah14	G	A	1: 181,536,598 (GRCm39)	A2414T	probably benign	Het
Dnah2	A	G	11: 69,406,592 (GRCm39)	L550P	probably damaging	Het
Erich6b	T	A	14: 75,902,668 (GRCm39)	S162T	probably benign	Het
Fbxw7	C	A	3: 84,883,561 (GRCm39)	H578Q		Het
Fer	T	C	17: 64,280,076 (GRCm39)	L418P	possibly damaging	Het
Fndc3b	A	C	3: 27,505,556 (GRCm39)	L904R	possibly damaging	Het
Gabrg1	A	T	5: 70,935,422 (GRCm39)	I249N	possibly damaging	Het
Gbe1	T	A	16: 70,238,127 (GRCm39)	D304E	probably benign	Het
Gm10549	C	T	18: 33,597,375 (GRCm39)	P54S	unknown	Het
Gpatch4	G	T	3: 87,962,452 (GRCm39)	E222*	probably null	Het
Heatr1	A	T	13: 12,433,087 (GRCm39)	T1146S	probably benign	Het
Hrc	A	C	7: 44,985,984 (GRCm39)	E378D	probably benign	Het
Hspg2	G	T	4: 137,244,909 (GRCm39)	R878L	probably damaging	Het
Igkv1-122	A	G	6: 67,993,756 (GRCm39)	M11V	probably benign	Het
Itih3	T	A	14: 30,643,885 (GRCm39)	K75*	probably null	Het
Jag1	A	G	2: 136,924,948 (GRCm39)	V1218A	probably benign	Het
Kif28	C	T	1: 179,563,695 (GRCm39)	D94N	probably benign	Het
Lama2	G	A	10: 27,064,378 (GRCm39)	T1201M	possibly damaging	Het
Lama2	A	G	10: 27,492,761 (GRCm39)	L11P	unknown	Het
Lrfn2	T	C	17: 49,403,530 (GRCm39)	V551A	probably damaging	Het
Mindy1	C	T	3: 95,202,590 (GRCm39)	L394F	probably benign	Het
Mon2	A	G	10: 122,868,452 (GRCm39)	S534P	probably benign	Het
Mrps5	T	A	2: 127,437,734 (GRCm39)	I187N	probably benign	Het
Mto1	A	G	9: 78,364,840 (GRCm39)	M360V	probably benign	Het
Muc16	T	G	9: 18,553,520 (GRCm39)	I4258L	probably benign	Het
Myo10	A	G	15: 25,781,520 (GRCm39)	D1005G	possibly damaging	Het
Myo18b	T	A	5: 112,943,269 (GRCm39)	R1645S	possibly damaging	Het
Naip2	A	T	13: 100,298,080 (GRCm39)	V652D	probably damaging	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Ncapd2	A	T	6: 125,163,106 (GRCm39)	M134K	probably benign	Het
Nup107	A	G	10: 117,586,868 (GRCm39)	F893S	probably damaging	Het
Or10j3	A	T	1: 173,031,741 (GRCm39)	R273W	probably damaging	Het
Or11h23	A	G	14: 50,947,802 (GRCm39)	E5G	probably benign	Het
Or1e35	A	T	11: 73,797,451 (GRCm39)	I289N	probably damaging	Het
Or4f14b	A	G	2: 111,775,429 (GRCm39)	V124A	probably benign	Het
Or5p64	C	T	7: 107,854,799 (GRCm39)	C182Y	probably damaging	Het
Pcgf1	G	T	6: 83,056,433 (GRCm39)	R124L	probably benign	Het
Pdcd10	A	T	3: 75,448,533 (GRCm39)	N10K	probably damaging	Het
Pdx1	C	T	5: 147,207,064 (GRCm39)	Q6*	probably null	Het
Plcl1	T	C	1: 55,735,810 (GRCm39)	S384P	probably damaging	Het
Serpina1b	T	A	12: 103,694,653 (GRCm39)	T364S	possibly damaging	Het
Slc5a11	C	T	7: 122,857,775 (GRCm39)	T288I	probably damaging	Het
Slc6a1	A	T	6: 114,291,271 (GRCm39)	S515C	probably damaging	Het
Snca	A	T	6: 60,710,121 (GRCm39)	D119E	probably benign	Het
Sorcs2	T	C	5: 36,200,814 (GRCm39)	D578G	probably damaging	Het
Sulf1	T	A	1: 12,890,729 (GRCm39)	L389Q	probably damaging	Het
Thoc2l	T	C	5: 104,667,826 (GRCm39)	F783L	possibly damaging	Het
Tln1	A	C	4: 43,532,084 (GRCm39)	I2501S	possibly damaging	Het
Tmem191	A	G	16: 17,094,257 (GRCm39)	E27G	probably damaging	Het
Tmem200a	G	T	10: 25,869,677 (GRCm39)	N197K	probably benign	Het
Tmem207	A	T	16: 26,345,434 (GRCm39)	S11T	probably benign	Het
Ttn	T	C	2: 76,564,953 (GRCm39)	T28425A	probably damaging	Het
Ush2a	C	T	1: 188,607,147 (GRCm39)	T4014M	probably benign	Het
Vac14	G	A	8: 111,439,379 (GRCm39)		probably null	Het
Vmn2r32	A	T	7: 7,477,197 (GRCm39)	I398K	probably damaging	Het
Vmn2r77	A	T	7: 86,452,236 (GRCm39)	H472L	probably benign	Het
Vps45	C	T	3: 95,940,976 (GRCm39)		probably null	Het
Wdr26	T	C	1: 181,019,423 (GRCm39)	H334R	probably damaging	Het
Zfp268	A	T	4: 145,349,613 (GRCm39)	Y350F	possibly damaging	Het
Zmynd10	A	G	9: 107,426,249 (GRCm39)	D132G	possibly damaging	Het
Zpbp2	A	G	11: 98,444,774 (GRCm39)	T123A	probably benign	Het

Other mutations in Lrrc8d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00765:Lrrc8d	APN	5	105,959,818 (GRCm39)	missense	possibly damaging	0.60
IGL01327:Lrrc8d	APN	5	105,960,131 (GRCm39)	missense	probably damaging	1.00
IGL02148:Lrrc8d	APN	5	105,960,253 (GRCm39)	missense	possibly damaging	0.92
IGL02228:Lrrc8d	APN	5	105,959,730 (GRCm39)	missense	probably benign	0.44
IGL02551:Lrrc8d	APN	5	105,961,414 (GRCm39)	missense	possibly damaging	0.78
IGL02605:Lrrc8d	APN	5	105,974,683 (GRCm39)	intron	noncoding transcript
heehaw	UTSW	5	105,960,957 (GRCm39)	missense	probably damaging	1.00
hoot	UTSW	5	105,959,626 (GRCm39)	missense	probably damaging	1.00
BB009:Lrrc8d	UTSW	5	105,960,891 (GRCm39)	missense	probably damaging	1.00
BB019:Lrrc8d	UTSW	5	105,960,891 (GRCm39)	missense	probably damaging	1.00
R0415:Lrrc8d	UTSW	5	105,959,731 (GRCm39)	missense	probably damaging	1.00
R1424:Lrrc8d	UTSW	5	105,974,782 (GRCm39)	missense	unknown
R1754:Lrrc8d	UTSW	5	105,960,523 (GRCm39)	missense	probably benign
R3411:Lrrc8d	UTSW	5	105,974,572 (GRCm39)	intron	noncoding transcript
R3605:Lrrc8d	UTSW	5	105,974,873 (GRCm39)	missense	unknown
R3705:Lrrc8d	UTSW	5	105,961,341 (GRCm39)	missense	probably damaging	1.00
R3798:Lrrc8d	UTSW	5	105,960,355 (GRCm39)	missense	probably benign	0.12
R3951:Lrrc8d	UTSW	5	105,962,142 (GRCm39)	missense	probably benign	0.00
R4300:Lrrc8d	UTSW	5	105,961,606 (GRCm39)	missense	probably damaging	0.99
R4953:Lrrc8d	UTSW	5	105,961,234 (GRCm39)	missense	probably damaging	1.00
R5211:Lrrc8d	UTSW	5	105,961,606 (GRCm39)	missense	probably damaging	0.99
R5436:Lrrc8d	UTSW	5	105,960,418 (GRCm39)	missense	probably damaging	0.98
R5512:Lrrc8d	UTSW	5	105,960,650 (GRCm39)	missense	probably damaging	1.00
R5512:Lrrc8d	UTSW	5	105,960,651 (GRCm39)	missense	probably benign	0.00
R5514:Lrrc8d	UTSW	5	105,960,651 (GRCm39)	missense	probably benign	0.00
R5514:Lrrc8d	UTSW	5	105,960,650 (GRCm39)	missense	probably damaging	1.00
R5531:Lrrc8d	UTSW	5	105,945,536 (GRCm39)	intron	probably benign
R5929:Lrrc8d	UTSW	5	105,960,472 (GRCm39)	missense	probably damaging	0.98
R6063:Lrrc8d	UTSW	5	105,959,992 (GRCm39)	missense	probably benign	0.01
R6379:Lrrc8d	UTSW	5	105,960,675 (GRCm39)	missense	probably benign	0.08
R6431:Lrrc8d	UTSW	5	105,959,626 (GRCm39)	missense	probably damaging	1.00
R7127:Lrrc8d	UTSW	5	105,960,829 (GRCm39)	missense	probably damaging	1.00
R7682:Lrrc8d	UTSW	5	105,960,657 (GRCm39)	missense	probably damaging	1.00
R7821:Lrrc8d	UTSW	5	105,960,210 (GRCm39)	missense	probably damaging	1.00
R7932:Lrrc8d	UTSW	5	105,960,891 (GRCm39)	missense	probably damaging	1.00
R8528:Lrrc8d	UTSW	5	105,960,352 (GRCm39)	missense	probably benign	0.22
R8976:Lrrc8d	UTSW	5	105,960,957 (GRCm39)	missense	probably damaging	1.00
R9063:Lrrc8d	UTSW	5	105,961,959 (GRCm39)	missense	probably damaging	0.97
R9116:Lrrc8d	UTSW	5	105,961,908 (GRCm39)	missense	probably damaging	1.00
R9211:Lrrc8d	UTSW	5	105,960,216 (GRCm39)	missense	probably damaging	1.00
R9388:Lrrc8d	UTSW	5	105,961,862 (GRCm39)	missense	probably damaging	0.97
R9796:Lrrc8d	UTSW	5	105,959,917 (GRCm39)	missense	probably benign	0.01
RF003:Lrrc8d	UTSW	5	105,960,507 (GRCm39)	missense	probably damaging	1.00
X0024:Lrrc8d	UTSW	5	105,959,611 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTCCAAGGTTGAGCATTTTGTTTC -3'
(R):5'- AGTTCGCAGTGTAGCAGAGG -3'

Sequencing Primer
(F):5'- CTCTGAGGAGAACAAGCA -3'
(R):5'- AATGAACTTGGCAGTTTTGATGAGC -3'

Posted On

2022-04-18