Mutagenetix > Incidental Mutation

Incidental Mutation 'R7988:Lrrc36'

651599

Institutional Source

Beutler Lab

Gene Symbol

Lrrc36

Ensembl Gene

ENSMUSG00000054320

Gene Name

leucine rich repeat containing 36

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.199) question?

Stock #

R7988 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105413571-105464086 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 105452086 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 304 (D304E)

Ref Sequence

ENSEMBL: ENSMUSP00000066345 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067305] [ENSMUST00000109355] [ENSMUST00000213547] [ENSMUST00000216765]

AlphaFold

Q3V0M2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067305
AA Change: D304E

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000066345
Gene: ENSMUSG00000054320
AA Change: D304E

Domain	Start	End	E-Value	Type
low complexity region	377	389	N/A	INTRINSIC
coiled coil region	478	550	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109355
AA Change: D427E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104979
Gene: ENSMUSG00000054320
AA Change: D427E

Domain	Start	End	E-Value	Type
Pfam:LRR_8	24	84	2.9e-8	PFAM
low complexity region	500	512	N/A	INTRINSIC
coiled coil region	601	673	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000213547
AA Change: D425E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216765
AA Change: D425E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	C	T	6: 72,347,652	T56M	probably damaging	Het
2010111I01Rik	A	G	13: 63,061,140	D357G	probably benign	Het
4932415D10Rik	T	C	10: 82,296,100	I359V	probably benign	Het
Adamtsl5	C	T	10: 80,345,538	S36N	probably benign	Het
Adgrf5	A	T	17: 43,439,813		probably benign	Het
Ago1	A	G	4: 126,460,417	F200S	probably damaging	Het
Akr1cl	T	C	1: 65,024,706	D108G	possibly damaging	Het
Arhgef3	A	T	14: 27,401,786	D468V	probably benign	Het
Aspn	T	C	13: 49,551,877	C72R	possibly damaging	Het
Baz2b	T	C	2: 59,962,141	T548A	possibly damaging	Het
Birc6	G	A	17: 74,599,373		probably null	Het
Btnl2	A	T	17: 34,358,275	T135S	possibly damaging	Het
Ccnl1	T	A	3: 65,957,861	I90F	possibly damaging	Het
Ccnt1	T	C	15: 98,565,143		probably null	Het
Cemip	C	A	7: 84,003,408		probably benign	Het
Cfap45	A	G	1: 172,529,934	D85G	probably damaging	Het
Cfap54	T	A	10: 92,902,079	D2319V	unknown	Het
Cma1	T	C	14: 55,944,532	M14V	possibly damaging	Het
Cmtm1	T	C	8: 104,310,142		probably benign	Het
Col27a1	A	G	4: 63,331,322	H1738R	unknown	Het
Colq	T	A	14: 31,553,837	D41V	probably damaging	Het
Cubn	T	C	2: 13,332,355	T2437A	probably benign	Het
Dnah14	A	G	1: 181,783,574	D3755G	probably damaging	Het
Eprs	A	G	1: 185,418,348	Y1349C	probably damaging	Het
Eps8	C	T	6: 137,528,571	R53Q	possibly damaging	Het
Fam196a	T	G	7: 134,917,698	K368Q	probably damaging	Het
Fbf1	T	C	11: 116,152,768	D405G	probably benign	Het
Fen1	C	T	19: 10,200,310	E257K	possibly damaging	Het
Gstm7	A	T	3: 107,926,955	M198K	possibly damaging	Het
Hook3	A	T	8: 26,073,647	S190T	probably benign	Het
Htra4	A	C	8: 25,030,510		probably null	Het
Ighv1-15	T	C	12: 114,657,496	I70V	probably benign	Het
Ikzf4	T	A	10: 128,634,455	N452Y	probably damaging	Het
Iqcf5	T	A	9: 106,515,821	N92K	possibly damaging	Het
Itk	A	G	11: 46,355,834	Y186H	probably damaging	Het
Klhdc10	T	C	6: 30,446,691	S282P	probably benign	Het
Klhl18	T	A	9: 110,476,509	E29V	possibly damaging	Het
Ky	T	C	9: 102,525,415	S140P	probably damaging	Het
Lmntd2	T	C	7: 141,213,637	E112G	unknown	Het
Macf1	A	T	4: 123,506,480	F674Y	probably damaging	Het
Notch1	C	T	2: 26,471,001	D1111N	probably benign	Het
Osbpl8	T	G	10: 111,272,080	N312K	possibly damaging	Het
Otogl	C	T	10: 107,895,776	C168Y	probably damaging	Het
Phldb2	T	G	16: 45,825,571	T171P	probably benign	Het
Ppef2	A	T	5: 92,238,982	F365L	probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Ryr1	G	A	7: 29,096,171	T1105I	probably benign	Het
Sclt1	T	A	3: 41,663,454	*29L	probably null	Het
Scn11a	T	C	9: 119,765,437	K1297E	probably damaging	Het
Serpinb9c	T	A	13: 33,150,279	Y288F	probably benign	Het
Setd1a	T	A	7: 127,786,194	M691K	probably benign	Het
Sftpc	T	C	14: 70,522,619	E66G	probably damaging	Het
Thnsl2	T	C	6: 71,141,319	T42A	probably benign	Het
Tram1	T	C	1: 13,569,975	D285G	probably benign	Het
Ttn	A	T	2: 76,736,240	I28103K	probably damaging	Het
Ttn	G	A	2: 76,845,030	P11137L	unknown	Het
Ttn	C	A	2: 76,896,759	V5821F	unknown	Het
Usp38	T	A	8: 81,014,316	M41L	probably benign	Het
Zcwpw1	T	G	5: 137,817,491	Y419D	possibly damaging	Het
Zfp407	G	A	18: 84,559,400	A1196V	possibly damaging	Het
Zfp446	T	A	7: 12,979,043	S103T	possibly damaging	Het

Other mutations in Lrrc36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1509:Lrrc36	UTSW	8	105461129	missense	probably damaging	1.00
R1638:Lrrc36	UTSW	8	105449641	missense	possibly damaging	0.92
R1800:Lrrc36	UTSW	8	105449765	missense	probably damaging	1.00
R2296:Lrrc36	UTSW	8	105461019	missense	possibly damaging	0.81
R4030:Lrrc36	UTSW	8	105426807	missense	probably damaging	1.00
R4059:Lrrc36	UTSW	8	105427796	missense	probably damaging	1.00
R4613:Lrrc36	UTSW	8	105449614	missense	possibly damaging	0.95
R4755:Lrrc36	UTSW	8	105452144	missense	possibly damaging	0.83
R4786:Lrrc36	UTSW	8	105455278	missense	probably benign	0.01
R4828:Lrrc36	UTSW	8	105455230	missense	probably benign	0.45
R4911:Lrrc36	UTSW	8	105426935	missense	probably benign	0.26
R5135:Lrrc36	UTSW	8	105463898	missense	probably benign
R5221:Lrrc36	UTSW	8	105443856	missense	probably damaging	0.99
R5354:Lrrc36	UTSW	8	105425364	missense	probably damaging	0.99
R5635:Lrrc36	UTSW	8	105457573	missense	probably damaging	0.97
R6793:Lrrc36	UTSW	8	105458433	missense	probably damaging	1.00
R6950:Lrrc36	UTSW	8	105425389	splice site	probably null
R6986:Lrrc36	UTSW	8	105458447	missense	probably damaging	0.99
R7231:Lrrc36	UTSW	8	105461057	missense	possibly damaging	0.46
R7326:Lrrc36	UTSW	8	105449769	missense	possibly damaging	0.92
R7349:Lrrc36	UTSW	8	105452268	missense	probably damaging	1.00
R7728:Lrrc36	UTSW	8	105449498	missense	probably benign
R7751:Lrrc36	UTSW	8	105452035	missense	possibly damaging	0.83
R8145:Lrrc36	UTSW	8	105443764	missense	probably damaging	0.96
R8195:Lrrc36	UTSW	8	105452085	missense	possibly damaging	0.90
R8380:Lrrc36	UTSW	8	105426828	missense	probably damaging	1.00
R8499:Lrrc36	UTSW	8	105449536	missense	possibly damaging	0.66
R8986:Lrrc36	UTSW	8	105449461	missense	possibly damaging	0.83
U24488:Lrrc36	UTSW	8	105449752	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GCGTATGCTAAAGGGTAGTTATCATG -3'
(R):5'- AGTCAATACTTGCGCCTCG -3'

Sequencing Primer
(F):5'- GGTAGTTATCATGACCCGAGATACC -3'
(R):5'- GCCTGTAGCATCTTGGAAACC -3'

Posted On

2020-09-15