Mutagenetix > Incidental Mutation

Incidental Mutation 'R7932:Lrrc8d'

643638

Institutional Source

Beutler Lab

Gene Symbol

Lrrc8d

Ensembl Gene

ENSMUSG00000046079

Gene Name

leucine rich repeat containing 8D

Synonyms

2810473G09Rik, 4930525N13Rik, Lrrc5

MMRRC Submission

045649-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7932 (G1)

Quality Score

999

Status

Not validated

Chromosome

Chromosomal Location

105847829-105963081 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 105960891 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 434 (R434C)

Ref Sequence

ENSEMBL: ENSMUSP00000057293 (fasta)

Gene Model

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

AlphaFold

Q8BGR2

Predicted Effect

probably damaging
Transcript: ENSMUST00000060531
AA Change: R434C

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

SMART Domains

Protein: ENSMUSP00000057293
Gene: ENSMUSG00000046079
AA Change: R434C

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 damaging
Transcript: ENSMUST00000120847
AA Change: R434C

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

SMART Domains

Protein: ENSMUSP00000113603
Gene: ENSMUSG00000046079
AA Change: R434C

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: 100.0%
10x: 99.9%
20x: 99.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	A	G	2: 155,415,100 (GRCm39)	R666G	unknown	Het
Adam21	T	A	12: 81,606,938 (GRCm39)	N275Y	probably damaging	Het
Adam33	G	A	2: 130,905,617 (GRCm39)		probably benign	Het
Arhgap24	A	T	5: 102,993,835 (GRCm39)		probably benign	Het
Arhgef1	C	T	7: 24,619,135 (GRCm39)	L459F	probably damaging	Het
Bbx	A	T	16: 50,030,806 (GRCm39)		probably null	Het
Blk	C	T	14: 63,611,008 (GRCm39)	G445S	possibly damaging	Het
Brca1	T	C	11: 101,430,843 (GRCm39)	E33G	possibly damaging	Het
Cacna1s	T	G	1: 136,012,097 (GRCm39)	L513R	probably damaging	Het
Cnn3	T	A	3: 121,245,078 (GRCm39)	M98K	probably benign	Het
Cttnbp2	T	A	6: 18,427,532 (GRCm39)	L716F	probably damaging	Het
Dlgap1	A	T	17: 70,823,233 (GRCm39)	R73W	probably damaging	Het
Dnajc4	A	G	19: 6,965,638 (GRCm39)	L182P	probably damaging	Het
Dock2	T	C	11: 34,217,998 (GRCm39)	M1191V	probably benign	Het
Fam13a	C	T	6: 58,960,873 (GRCm39)		probably null	Het
Fbn2	C	T	18: 58,153,555 (GRCm39)	G2569E	possibly damaging	Het
Fes	T	C	7: 80,029,620 (GRCm39)	I623V	probably damaging	Het
Fyco1	A	C	9: 123,658,055 (GRCm39)	L707R	possibly damaging	Het
Gadd45b	T	A	10: 80,766,169 (GRCm39)	V7E	possibly damaging	Het
Gm19410	T	A	8: 36,262,753 (GRCm39)	C897S	probably damaging	Het
Hk1	A	G	10: 62,151,299 (GRCm39)	L31P	probably damaging	Het
Hoxa4	T	G	6: 52,167,397 (GRCm39)	K261N	probably damaging	Het
Hrh4	T	A	18: 13,148,869 (GRCm39)	L77*	probably null	Het
Igf1r	A	T	7: 67,861,802 (GRCm39)	I1121F	possibly damaging	Het
Igkv16-104	A	T	6: 68,402,778 (GRCm39)	I24L	probably benign	Het
Itk	A	T	11: 46,231,519 (GRCm39)	W346R	probably benign	Het
Kdm2a	A	G	19: 4,369,184 (GRCm39)	S1144P	probably damaging	Het
Krt86	A	T	15: 101,374,473 (GRCm39)	S289C	probably damaging	Het
Lonrf1	T	C	8: 36,690,070 (GRCm39)	I663V	probably benign	Het
Lrp2	T	G	2: 69,256,371 (GRCm39)	I4590L	probably benign	Het
Maneal	T	C	4: 124,755,638 (GRCm39)	Y108C	probably damaging	Het
Muc21	TCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGAT	TCCTGAGGCAGTGCTGGAT	17: 35,933,525 (GRCm39)		probably benign	Het
Myh8	G	A	11: 67,185,430 (GRCm39)	V894I	probably benign	Het
Ncam2	T	G	16: 81,412,708 (GRCm39)	L732R	probably damaging	Het
Nsun4	A	T	4: 115,901,997 (GRCm39)	D156E	probably damaging	Het
Or10z1	T	C	1: 174,078,260 (GRCm39)	I78V	probably benign	Het
Or1e23	A	C	11: 73,407,983 (GRCm39)	L14R	probably damaging	Het
Or2n1d	A	T	17: 38,646,146 (GRCm39)	I33L	probably benign	Het
Or5b106	A	T	19: 13,123,345 (GRCm39)	M226K	probably benign	Het
Or5v1b	T	C	17: 37,841,075 (GRCm39)	I69T	probably benign	Het
Or6c66	C	A	10: 129,461,094 (GRCm39)	V279F	probably damaging	Het
P2rx7	G	A	5: 122,782,245 (GRCm39)	V37I	probably benign	Het
Pcdh15	A	G	10: 74,481,359 (GRCm39)	R235G	probably benign	Het
Pcdhga1	T	C	18: 37,796,513 (GRCm39)	S506P	probably damaging	Het
Pira2	A	T	7: 3,845,435 (GRCm39)		probably null	Het
Plch1	A	G	3: 63,609,402 (GRCm39)	V935A	probably benign	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Prpf8	A	G	11: 75,383,423 (GRCm39)	D607G	possibly damaging	Het
Ptdss1	T	C	13: 67,114,496 (GRCm39)	W215R	probably damaging	Het
Ptpn9	C	A	9: 56,943,900 (GRCm39)	P258Q	possibly damaging	Het
Rfpl4b	A	G	10: 38,697,346 (GRCm39)	V85A	possibly damaging	Het
Sacs	C	A	14: 61,442,327 (GRCm39)	Q1458K	probably damaging	Het
Scfd2	A	T	5: 74,692,211 (GRCm39)	S24T	probably benign	Het
Siae	A	G	9: 37,544,980 (GRCm39)	D325G	probably benign	Het
Slc22a23	C	A	13: 34,366,960 (GRCm39)	A683S	probably damaging	Het
Slc44a3	A	T	3: 121,306,009 (GRCm39)	I244N	possibly damaging	Het
Srrm2	T	A	17: 24,037,501 (GRCm39)	S1382T	probably benign	Het
Tfap2c	A	G	2: 172,393,706 (GRCm39)	Y207C	probably damaging	Het
Timd5	C	A	11: 46,426,366 (GRCm39)	P158T	probably benign	Het
Tnc	T	C	4: 63,926,857 (GRCm39)	I890V	probably benign	Het
Trim30a	A	T	7: 104,078,545 (GRCm39)	I177N	probably benign	Het
Tshz2	T	A	2: 169,728,251 (GRCm39)	M949K	possibly damaging	Het
Ttn	T	G	2: 76,555,530 (GRCm39)	T30492P	probably damaging	Het
Ubb	C	T	11: 62,443,611 (GRCm39)	Q214*	probably null	Het
Ulk2	A	G	11: 61,698,916 (GRCm39)	S423P	probably benign	Het
Vmn1r237	C	A	17: 21,534,725 (GRCm39)	D149E	probably benign	Het
Zbtb24	A	G	10: 41,327,504 (GRCm39)	D130G	probably benign	Het
Zfp689	C	A	7: 127,043,523 (GRCm39)	G369V	probably damaging	Het
Zg16	A	G	7: 126,649,577 (GRCm39)	F128S	probably damaging	Het
Zmym1	T	G	4: 126,944,578 (GRCm39)	N203T	possibly damaging	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
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
R9358:Lrrc8d	UTSW	5	105,960,358 (GRCm39)	missense	probably benign	0.01
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'- AGCTACATCTCCATCATCTGCG -3'
(R):5'- TGCTTCGGGGATCAGTTCAAG -3'

Sequencing Primer
(F):5'- CATCATCTGCGTCTACGGC -3'
(R):5'- TAGCACATCCAGGTCTGTGAG -3'

Posted On

2020-08-07