Mutagenetix > Incidental Mutation

Incidental Mutation 'R6389:Prr11'

515702

Institutional Source

Beutler Lab

Gene Symbol

Prr11

Ensembl Gene

ENSMUSG00000020493

Gene Name

proline rich 11

Synonyms

B930067F20Rik

MMRRC Submission

044538-MU

Accession Numbers

Essential gene?

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

Stock #

R6389 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86979979-86999534 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 86989564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 269 (T269I)

Ref Sequence

ENSEMBL: ENSMUSP00000060803 (fasta)

Gene Model

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

AlphaFold

Q8BHE0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051395
AA Change: T269I

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000060803
Gene: ENSMUSG00000020493
AA Change: T269I

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: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.9%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	A	C	7: 43,147,254 (GRCm39)	L326R	possibly damaging	Het
Abcb11	A	T	2: 69,154,238 (GRCm39)	N109K	probably damaging	Het
Actn1	T	A	12: 80,221,296 (GRCm39)	M586L	probably benign	Het
Ago4	T	A	4: 126,401,037 (GRCm39)	I603F	probably damaging	Het
Bicc1	A	T	10: 70,794,752 (GRCm39)	V135D	probably damaging	Het
Bms1	T	C	6: 118,380,196 (GRCm39)	N704D	possibly damaging	Het
Cadm4	A	C	7: 24,198,959 (GRCm39)	Q78P	probably benign	Het
Cfap74	T	C	4: 155,507,793 (GRCm39)	I248T	possibly damaging	Het
Clu	G	C	14: 66,208,771 (GRCm39)		probably benign	Het
Cnnm3	T	C	1: 36,559,603 (GRCm39)	V514A	probably damaging	Het
Cntd1	A	T	11: 101,176,577 (GRCm39)	I225F	probably damaging	Het
Col20a1	T	C	2: 180,634,376 (GRCm39)		probably null	Het
Ctnnal1	A	G	4: 56,813,849 (GRCm39)	V640A	probably benign	Het
Cul4a	A	G	8: 13,190,278 (GRCm39)	T572A	probably benign	Het
D16Ertd472e	A	G	16: 78,342,071 (GRCm39)	S270P	probably damaging	Het
Dmp1	A	T	5: 104,360,788 (GRCm39)	N488I	probably damaging	Het
Dnah14	G	A	1: 181,478,767 (GRCm39)		probably null	Het
Dst	T	C	1: 34,232,265 (GRCm39)	L3464P	probably damaging	Het
Fnbp4	C	T	2: 90,575,879 (GRCm39)	P27S	unknown	Het
Fpr-rs3	A	T	17: 20,844,230 (GRCm39)	F304I	probably damaging	Het
Gm13941	T	C	2: 110,928,734 (GRCm39)	Q108R	unknown	Het
Hcn3	C	T	3: 89,058,240 (GRCm39)	A339T	possibly damaging	Het
Inpp5f	A	G	7: 128,279,780 (GRCm39)	D460G	probably damaging	Het
Ism2	T	C	12: 87,329,145 (GRCm39)	E253G	possibly damaging	Het
Klrg1	T	C	6: 122,248,431 (GRCm39)	N156S	probably damaging	Het
Ksr2	A	G	5: 117,552,907 (GRCm39)	N5S	probably benign	Het
Lrrc7	T	G	3: 157,891,063 (GRCm39)	E368A	probably damaging	Het
Ly9	G	C	1: 171,424,105 (GRCm39)	S482C	probably damaging	Het
Map3k1	T	C	13: 111,905,975 (GRCm39)	D289G	probably damaging	Het
Mcub	T	C	3: 129,712,357 (GRCm39)	T173A	probably benign	Het
Mup16	T	C	4: 61,437,177 (GRCm39)	E48G	probably damaging	Het
Naf1	C	T	8: 67,313,680 (GRCm39)	S24L	possibly damaging	Het
Ncoa6	A	G	2: 155,237,736 (GRCm39)	S2024P	probably damaging	Het
Nop56	C	A	2: 130,119,807 (GRCm39)	Q83K	probably damaging	Het
Nt5e	T	C	9: 88,245,524 (GRCm39)	Y265H	probably damaging	Het
Odad1	G	T	7: 45,597,940 (GRCm39)	V617F	probably benign	Het
Or4a27	A	G	2: 88,559,016 (GRCm39)	V309A	probably benign	Het
Or52p2	A	T	7: 102,237,679 (GRCm39)	N90K	probably benign	Het
Or5w8	C	T	2: 87,688,367 (GRCm39)	P283S	probably damaging	Het
Oxct2a	T	A	4: 123,217,220 (GRCm39)	K54*	probably null	Het
Oxct2b	G	T	4: 123,010,367 (GRCm39)	D96Y	probably benign	Het
Pisd	A	G	5: 32,922,191 (GRCm39)	Y250H	probably damaging	Het
Plekhm1	G	T	11: 103,257,720 (GRCm39)	N1071K	probably benign	Het
Ptpn4	T	A	1: 119,649,684 (GRCm39)	H304L	probably damaging	Het
Rrp1b	A	G	17: 32,275,601 (GRCm39)	K383E	possibly damaging	Het
Sel1l2	C	A	2: 140,087,274 (GRCm39)	A466S	probably damaging	Het
Slc9a4	A	G	1: 40,619,844 (GRCm39)	I57V	probably benign	Het
Spag9	A	G	11: 93,977,137 (GRCm39)	E81G	probably damaging	Het
Tbr1	A	G	2: 61,636,631 (GRCm39)		probably benign	Het
Tnrc6c	A	G	11: 117,613,567 (GRCm39)	D735G	probably damaging	Het
Tspan17	A	T	13: 54,943,429 (GRCm39)		probably null	Het
Tyw5	T	C	1: 57,430,658 (GRCm39)	K175R	probably damaging	Het
Ube2o	A	C	11: 116,439,684 (GRCm39)	I162R	probably null	Het
Ubr1	G	T	2: 120,711,520 (GRCm39)	T1458K	probably benign	Het
Vmn2r16	A	T	5: 109,478,344 (GRCm39)	Q33L	probably benign	Het
Zfp1007	G	A	5: 109,823,885 (GRCm39)	P522S	possibly damaging	Het
Zfp799	A	G	17: 33,039,552 (GRCm39)	L238P	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
R6469:Prr11	UTSW	11	86,988,003 (GRCm39)	missense	possibly damaging	0.46
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'- ACATCCATACAAGGGCTGTGG -3'
(R):5'- GGTGAAAGAGAGCCTTTGAACCTTAG -3'

Sequencing Primer
(F):5'- CATACAAGGGCTGTGGCTTGTG -3'
(R):5'- ACTAACACTCTGGTTTTCAAA -3'

Posted On

2018-05-04