Mutagenetix > Incidental Mutation

Incidental Mutation 'R6469:Prr11'

520280

Institutional Source

Beutler Lab

Gene Symbol

Prr11

Ensembl Gene

ENSMUSG00000020493

Gene Name

proline rich 11

Synonyms

B930067F20Rik

MMRRC Submission

044602-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R6469 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86979979-86999534 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86988003 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 300 (Q300L)

Ref Sequence

ENSEMBL: ENSMUSP00000060803 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051395]

AlphaFold

Q8BHE0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051395
AA Change: Q300L

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000060803
Gene: ENSMUSG00000020493
AA Change: Q300L

Domain	Start	End	E-Value	Type
low complexity region	3	25	N/A	INTRINSIC
low complexity region	28	42	N/A	INTRINSIC
low complexity region	135	152	N/A	INTRINSIC
low complexity region	184	212	N/A	INTRINSIC
low complexity region	350	363	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.2%
20x: 91.3%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	G	3: 137,772,736 (GRCm39)	S642A	probably damaging	Het
Aadacl2	A	T	3: 59,932,210 (GRCm39)	T242S	probably benign	Het
Adprh	T	C	16: 38,270,671 (GRCm39)	M45V	probably benign	Het
Akr1c13	T	C	13: 4,246,511 (GRCm39)		probably null	Het
Ap3d1	A	C	10: 80,547,992 (GRCm39)	V900G	probably benign	Het
Bak1	G	A	17: 27,240,293 (GRCm39)	R125C	probably damaging	Het
Bmpr1b	T	C	3: 141,562,222 (GRCm39)	T322A	possibly damaging	Het
Camsap3	T	A	8: 3,653,941 (GRCm39)	L521Q	possibly damaging	Het
Col6a6	A	T	9: 105,575,890 (GRCm39)	F2157I	probably damaging	Het
Dcun1d4	G	A	5: 73,691,957 (GRCm39)	M155I	probably damaging	Het
Diaph3	T	C	14: 86,893,974 (GRCm39)	S12G	possibly damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fgb	A	T	3: 82,953,449 (GRCm39)	L107*	probably null	Het
Ganab	T	C	19: 8,879,996 (GRCm39)		probably null	Het
Gba1	C	T	3: 89,111,388 (GRCm39)	P51L	probably benign	Het
Glb1l2	T	C	9: 26,707,828 (GRCm39)	D60G	probably benign	Het
Idh3b	AG	AGCACCACAACTG	2: 130,121,593 (GRCm39)		probably null	Het
Itih2	A	G	2: 10,128,224 (GRCm39)	V159A	possibly damaging	Het
Kif1b	T	C	4: 149,277,053 (GRCm39)	M1337V	probably benign	Het
Lrch1	C	T	14: 75,054,525 (GRCm39)	R323Q	probably damaging	Het
Lrrc30	T	C	17: 67,938,860 (GRCm39)	N240S	probably benign	Het
Mrgpra9	T	C	7: 46,884,854 (GRCm39)	Y271C	probably benign	Het
Ncor1	T	C	11: 62,234,128 (GRCm39)	H682R	probably damaging	Het
Or14j4	A	T	17: 37,921,204 (GRCm39)	V146E	probably damaging	Het
Pax9	C	A	12: 56,743,648 (GRCm39)	F98L	probably damaging	Het
Phlpp1	G	A	1: 106,214,833 (GRCm39)	R585Q	probably damaging	Het
Prkdc	A	G	16: 15,612,939 (GRCm39)	T3166A	probably benign	Het
Rad50	T	A	11: 53,575,062 (GRCm39)	E620D	probably benign	Het
Rpl3	A	T	15: 79,967,546 (GRCm39)		probably null	Het
Sacs	G	T	14: 61,428,697 (GRCm39)	G252V	probably damaging	Het
Serpina3i	T	A	12: 104,232,776 (GRCm39)	V227E	probably damaging	Het
Smap2	GACTCTAC	GAC	4: 120,830,282 (GRCm39)		probably benign	Het
Snx19	T	C	9: 30,339,039 (GRCm39)	V59A	possibly damaging	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Tcstv2c	T	A	13: 120,616,349 (GRCm39)	W63R	probably damaging	Het
Tsc1	G	A	2: 28,561,898 (GRCm39)		probably null	Het
Vmn2r61	C	T	7: 41,915,283 (GRCm39)	Q77*	probably null	Het
Wdr72	A	G	9: 74,120,643 (GRCm39)	H954R	probably benign	Het
Zbtb21	T	C	16: 97,757,972 (GRCm39)	M20V	probably benign	Het
Zkscan16	A	T	4: 58,956,483 (GRCm39)	D255V	probably damaging	Het

Other mutations in Prr11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00797:Prr11	APN	11	86,989,505 (GRCm39)	missense	probably benign
IGL02106:Prr11	APN	11	86,994,141 (GRCm39)	splice site	probably benign
IGL02733:Prr11	APN	11	86,994,371 (GRCm39)	missense	possibly damaging	0.90
IGL03052:Prr11	APN	11	86,994,478 (GRCm39)	missense	possibly damaging	0.66
IGL03288:Prr11	APN	11	86,987,787 (GRCm39)	critical splice donor site	probably null
R1931:Prr11	UTSW	11	86,996,868 (GRCm39)	nonsense	probably null
R1972:Prr11	UTSW	11	86,989,580 (GRCm39)	missense	possibly damaging	0.94
R1981:Prr11	UTSW	11	86,994,116 (GRCm39)	missense	probably damaging	0.99
R4499:Prr11	UTSW	11	86,989,533 (GRCm39)	missense	possibly damaging	0.82
R4500:Prr11	UTSW	11	86,989,533 (GRCm39)	missense	possibly damaging	0.82
R4837:Prr11	UTSW	11	86,989,517 (GRCm39)	missense	probably benign	0.00
R6163:Prr11	UTSW	11	86,994,454 (GRCm39)	missense	possibly damaging	0.92
R6172:Prr11	UTSW	11	86,994,449 (GRCm39)	missense	probably benign	0.02
R6389:Prr11	UTSW	11	86,989,564 (GRCm39)	missense	possibly damaging	0.92
R6505:Prr11	UTSW	11	86,996,950 (GRCm39)	nonsense	probably null
R7372:Prr11	UTSW	11	86,989,600 (GRCm39)	missense	probably benign	0.01
R7710:Prr11	UTSW	11	86,994,433 (GRCm39)	missense	probably benign	0.10
R7983:Prr11	UTSW	11	86,982,637 (GRCm39)	missense	possibly damaging	0.90
R8798:Prr11	UTSW	11	86,996,881 (GRCm39)	missense	unknown
R9065:Prr11	UTSW	11	86,992,249 (GRCm39)	missense	probably damaging	0.96
R9416:Prr11	UTSW	11	86,992,254 (GRCm39)	nonsense	probably null
R9602:Prr11	UTSW	11	86,987,998 (GRCm39)	missense	possibly damaging	0.90
R9752:Prr11	UTSW	11	86,994,416 (GRCm39)	missense	possibly damaging	0.66
Z1176:Prr11	UTSW	11	86,987,968 (GRCm39)	missense	possibly damaging	0.46

Predicted Primers

PCR Primer
(F):5'- GTGAGTCCAGTTCCTGTATCCATG -3'
(R):5'- GGTATATGATCTTAAGCTGCATCTCTG -3'

Sequencing Primer
(F):5'- AGTCCAGTTCCTGTATCCATGTTTTC -3'
(R):5'- CCGGCTCATATTGTTTTCTTAA -3'

Posted On

2018-06-06