Mutagenetix > Incidental Mutation

Incidental Mutation 'R6431:Lrrc8d'

518528

Institutional Source

Beutler Lab

Gene Symbol

Lrrc8d

Ensembl Gene

ENSMUSG00000046079

Gene Name

leucine rich repeat containing 8D

Synonyms

2810473G09Rik, 4930525N13Rik, Lrrc5

MMRRC Submission

044569-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6431 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105847829-105963081 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105959626 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 12 (D12G)

Ref Sequence

ENSEMBL: ENSMUSP00000114662 (fasta)

Gene Model

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

AlphaFold

Q8BGR2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060531
AA Change: D12G

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000057293
Gene: ENSMUSG00000046079
AA Change: D12G

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

possibly damaging
Transcript: ENSMUST00000120847
AA Change: D12G

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113603
Gene: ENSMUSG00000046079
AA Change: D12G

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

possibly damaging
Transcript: ENSMUST00000127686
AA Change: D12G

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135958

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140081

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149831

Predicted Effect

probably damaging
Transcript: ENSMUST00000154807
AA Change: D12G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114662
Gene: ENSMUSG00000046079
AA Change: D12G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000156630
AA Change: D12G

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

Meta Mutation Damage Score

0.2663

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.2%
20x: 93.9%

Validation Efficiency

100% (68/68)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy5	A	G	16: 35,099,607 (GRCm39)	E719G	probably damaging	Het
Ankdd1a	A	G	9: 65,424,220 (GRCm39)	M31T	possibly damaging	Het
Atp13a5	T	C	16: 29,070,154 (GRCm39)	K911E	possibly damaging	Het
Bpifb3	G	T	2: 153,766,728 (GRCm39)	L210F	probably damaging	Het
Cacna1c	T	C	6: 118,728,334 (GRCm39)	Y211C	probably damaging	Het
Carm1	C	A	9: 21,494,373 (GRCm39)	P297T	probably damaging	Het
Cdh19	A	T	1: 110,852,787 (GRCm39)	Y383N	probably benign	Het
Cfap221	T	C	1: 119,860,583 (GRCm39)	H681R	probably damaging	Het
Cmya5	A	C	13: 93,210,972 (GRCm39)	S3274A	possibly damaging	Het
Cndp2	T	A	18: 84,693,203 (GRCm39)	K186*	probably null	Het
Ctdp1	G	T	18: 80,494,470 (GRCm39)	F310L	probably damaging	Het
Cyp2c55	A	T	19: 39,019,853 (GRCm39)	I264F	probably damaging	Het
Dhx40	A	T	11: 86,664,649 (GRCm39)	F628I	probably damaging	Het
Disc1	T	A	8: 125,862,128 (GRCm39)	M500K	possibly damaging	Het
Dnah5	A	C	15: 28,349,970 (GRCm39)	D2551A	possibly damaging	Het
Esyt1	A	G	10: 128,352,543 (GRCm39)		probably null	Het
Fam78a	T	C	2: 31,972,843 (GRCm39)	S26G	probably damaging	Het
Fn1	G	A	1: 71,687,003 (GRCm39)		probably null	Het
Gbx1	T	C	5: 24,709,916 (GRCm39)	T310A	probably benign	Het
Ggh	T	A	4: 20,042,219 (GRCm39)	C16S	unknown	Het
Gm11595	T	A	11: 99,663,600 (GRCm39)	T27S	unknown	Het
Gm17334	T	A	11: 53,663,564 (GRCm39)		probably benign	Het
Gsk3b	A	G	16: 38,014,311 (GRCm39)	I256M	probably damaging	Het
Hmcn1	A	T	1: 150,620,711 (GRCm39)	S1166R	probably benign	Het
Hyou1	T	C	9: 44,293,322 (GRCm39)		probably null	Het
Jup	G	T	11: 100,265,167 (GRCm39)	R637S	probably benign	Het
Lama2	T	A	10: 26,929,027 (GRCm39)	I2087F	possibly damaging	Het
Lamc1	T	G	1: 153,097,417 (GRCm39)	K1542N	probably benign	Het
Lgals4	G	T	7: 28,540,117 (GRCm39)			Het
Lrwd1	C	T	5: 136,161,888 (GRCm39)	V207M	possibly damaging	Het
Mbd1	T	A	18: 74,406,762 (GRCm39)		probably null	Het
Msi1	T	A	5: 115,588,984 (GRCm39)	I333N	probably damaging	Het
Neo1	C	T	9: 58,814,354 (GRCm39)	V871I	probably benign	Het
Nr2c1	T	C	10: 94,024,078 (GRCm39)	C428R	probably damaging	Het
Ntm	A	G	9: 29,322,978 (GRCm39)	L14P	probably damaging	Het
Nxpe4	A	T	9: 48,304,145 (GRCm39)	K77N	probably damaging	Het
Or1p1c	A	C	11: 74,160,235 (GRCm39)	T7P	possibly damaging	Het
Or4c119	T	A	2: 88,987,505 (GRCm39)	S5C	probably damaging	Het
Or4f17-ps1	T	A	2: 111,358,001 (GRCm39)	M132K	probably damaging	Het
Or8g30	T	C	9: 39,230,074 (GRCm39)	T279A	possibly damaging	Het
Or8k18	G	A	2: 86,085,702 (GRCm39)	L112F	probably benign	Het
Pappa	T	A	4: 65,074,701 (GRCm39)	D418E	probably damaging	Het
Pde4d	G	A	13: 109,738,320 (GRCm39)		probably null	Het
Pip	A	G	6: 41,828,391 (GRCm39)	N75S	possibly damaging	Het
Plcl1	G	C	1: 55,736,411 (GRCm39)	R584P	probably benign	Het
Pnp	A	T	14: 51,188,471 (GRCm39)	D237V	probably damaging	Het
Ppp1r12a	T	C	10: 108,098,281 (GRCm39)	W857R	probably damaging	Het
Pramel13	T	C	4: 144,119,653 (GRCm39)	T305A	possibly damaging	Het
Ptchd3	A	T	11: 121,727,229 (GRCm39)	M368L	probably benign	Het
Pum1	T	A	4: 130,501,816 (GRCm39)	S868R	probably damaging	Het
R3hdml	A	T	2: 163,344,324 (GRCm39)	S238C	probably damaging	Het
Robo2	G	A	16: 73,843,697 (GRCm39)	R173*	probably null	Het
Sall3	A	G	18: 81,016,402 (GRCm39)	S509P	possibly damaging	Het
Sap130	T	G	18: 31,799,418 (GRCm39)	H298Q	possibly damaging	Het
Selenov	C	A	7: 27,987,458 (GRCm39)	G307C	probably damaging	Het
Setd2	T	A	9: 110,379,453 (GRCm39)	H1089Q	possibly damaging	Het
Setdb2	T	C	14: 59,656,505 (GRCm39)	N287D	probably damaging	Het
Sis	C	T	3: 72,865,507 (GRCm39)	V182I	probably benign	Het
Slc32a1	A	C	2: 158,453,457 (GRCm39)	D99A	probably benign	Het
Slk	A	G	19: 47,609,327 (GRCm39)	D760G	probably damaging	Het
Smg5	T	A	3: 88,258,527 (GRCm39)	D499E	probably benign	Het
Spata31e2	T	A	1: 26,723,111 (GRCm39)	N690Y	probably benign	Het
Stat3	T	C	11: 100,780,400 (GRCm39)	T720A	possibly damaging	Het
Trdn	T	G	10: 33,015,110 (GRCm39)	N21K	probably damaging	Het
Trpm4	A	T	7: 44,975,992 (GRCm39)	V118E	possibly damaging	Het
Vgll3	A	G	16: 65,612,640 (GRCm39)	Q41R	probably damaging	Het
Vmn1r189	A	G	13: 22,286,525 (GRCm39)	V104A	probably damaging	Het
Vmn1r46	A	T	6: 89,953,389 (GRCm39)	R79S	probably benign	Het
Zscan4c	T	C	7: 10,740,856 (GRCm39)	M125T	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
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
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'- AATGTCTATGCTGACGGTCTATAG -3'
(R):5'- GTGATGTCAGCATTTCCGGG -3'

Sequencing Primer
(F):5'- CTATGCTGACGGTCTATAGTCTGTAG -3'
(R):5'- CAGCATTTCCGGGTGGTG -3'

Posted On

2018-05-24