Mutagenetix > Incidental Mutation

Incidental Mutation 'R4499:Prr11'

331762

Institutional Source

Beutler Lab

Gene Symbol

Prr11

Ensembl Gene

ENSMUSG00000020493

Gene Name

proline rich 11

Synonyms

B930067F20Rik

MMRRC Submission

041752-MU

Accession Numbers

Essential gene?

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

Stock #

R4499 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86979979-86999534 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 86989533 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 279 (K279N)

Ref Sequence

ENSEMBL: ENSMUSP00000060803 (fasta)

Gene Model

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

AlphaFold

Q8BHE0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051395
AA Change: K279N

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000060803
Gene: ENSMUSG00000020493
AA Change: K279N

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

Meta Mutation Damage Score

0.0761

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

92% (47/51)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	A	13: 77,464,646 (GRCm39)	W948R	possibly damaging	Het
Ache	A	C	5: 137,290,194 (GRCm39)	M508L	probably damaging	Het
Adgrb2	A	T	4: 129,886,454 (GRCm39)	E198V	probably damaging	Het
Adgrl4	A	G	3: 151,216,422 (GRCm39)	N535S	possibly damaging	Het
Agbl3	T	C	6: 34,834,533 (GRCm39)	S906P	probably benign	Het
Akna	T	C	4: 63,313,278 (GRCm39)	T282A	probably benign	Het
Arfgef2	G	A	2: 166,727,734 (GRCm39)	V1561M	probably damaging	Het
Arfgef3	T	C	10: 18,484,091 (GRCm39)	D1388G	possibly damaging	Het
Asnsd1	A	G	1: 53,387,129 (GRCm39)	V166A	probably benign	Het
Bank1	T	C	3: 135,990,004 (GRCm39)	I29V	probably benign	Het
Bpifb5	A	T	2: 154,082,678 (GRCm39)	I484F	possibly damaging	Het
Camta2	T	C	11: 70,565,512 (GRCm39)	E788G	probably damaging	Het
Ccdc18	T	G	5: 108,376,826 (GRCm39)	S1422R	possibly damaging	Het
Cdc42bpg	C	T	19: 6,370,585 (GRCm39)	P1226L	possibly damaging	Het
Cep126	T	C	9: 8,101,589 (GRCm39)	N315S	possibly damaging	Het
Dcaf4	T	A	12: 83,586,134 (GRCm39)	L367Q	probably damaging	Het
Dcc	A	T	18: 71,680,388 (GRCm39)	V616D	probably benign	Het
Dennd4a	G	A	9: 64,817,405 (GRCm39)	D1680N	possibly damaging	Het
Dgkq	C	G	5: 108,797,527 (GRCm39)	E788D	possibly damaging	Het
Dpep2	T	C	8: 106,712,114 (GRCm39)	E282G	probably benign	Het
Gm8221	T	A	15: 77,510,245 (GRCm39)		noncoding transcript	Het
Ice1	T	C	13: 70,757,146 (GRCm39)	S280G	possibly damaging	Het
Lrrc2	A	T	9: 110,791,713 (GRCm39)	Q155L	probably benign	Het
Mesd	G	A	7: 83,547,185 (GRCm39)	R216Q	probably benign	Het
Msh6	T	A	17: 88,287,697 (GRCm39)	N112K	probably damaging	Het
Myo15b	A	G	11: 115,781,778 (GRCm39)	E307G	probably benign	Het
Nod1	T	A	6: 54,920,981 (GRCm39)	N446Y	probably damaging	Het
Nrap	G	A	19: 56,339,913 (GRCm39)	T787I	probably damaging	Het
P2ry12	A	G	3: 59,125,078 (GRCm39)	I199T	probably damaging	Het
Psg25	C	T	7: 18,258,816 (GRCm39)	E287K	possibly damaging	Het
Rusc1	T	C	3: 88,999,615 (GRCm39)	S56G	probably benign	Het
Slc16a7	T	C	10: 125,064,056 (GRCm39)	N427S	probably damaging	Het
Slc47a1	T	A	11: 61,250,355 (GRCm39)	I341L	probably benign	Het
Slc9a8	T	A	2: 167,266,113 (GRCm39)	L30Q	probably benign	Het
Ssh2	T	A	11: 77,283,893 (GRCm39)	L49*	probably null	Het
Stard9	T	A	2: 120,530,722 (GRCm39)	D2326E	probably benign	Het
Thbs1	T	C	2: 117,950,431 (GRCm39)	I688T	possibly damaging	Het
Ttn	T	A	2: 76,746,822 (GRCm39)	E4742D	probably benign	Het
Vps37b	T	C	5: 124,145,689 (GRCm39)	I117V	probably damaging	Het
Xirp2	A	T	2: 67,343,782 (GRCm39)	M2008L	probably benign	Het
Zfp1005	T	G	2: 150,111,362 (GRCm39)	V684G	possibly damaging	Het
Zfp53	A	G	17: 21,729,497 (GRCm39)	E510G	probably damaging	Het
Zswim8	T	A	14: 20,764,365 (GRCm39)	S578R	probably benign	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
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
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'- TGACATCCATACAAGGGCTGTG -3'
(R):5'- TGAAAGAGAGCCTTTGAACCTTAG -3'

Sequencing Primer
(F):5'- CCATACAAGGGCTGTGGCTTG -3'
(R):5'- TGAATCATAGAAAACTAACACTCTGG -3'

Posted On

2015-07-21