Mutagenetix > Incidental Mutation

Incidental Mutation 'R2363:Rp1l1'

247246

Institutional Source

Beutler Lab

Gene Symbol

Rp1l1

Ensembl Gene

ENSMUSG00000046049

Gene Name

retinitis pigmentosa 1 homolog like 1

Synonyms

Dcdc4, Rp1hl1

MMRRC Submission

040344-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R2363 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64229880-64270955 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 64267447 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 1011 (H1011L)

Ref Sequence

ENSEMBL: ENSMUSP00000055449 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058229]

AlphaFold

Q8CGM2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058229
AA Change: H1011L

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000055449
Gene: ENSMUSG00000046049
AA Change: H1011L

Domain	Start	End	E-Value	Type
low complexity region	11	21	N/A	INTRINSIC
DCX	37	121	1.58e-13	SMART
DCX	155	239	1e-15	SMART
low complexity region	709	728	N/A	INTRINSIC
low complexity region	870	884	N/A	INTRINSIC
low complexity region	1159	1177	N/A	INTRINSIC
low complexity region	1228	1239	N/A	INTRINSIC
low complexity region	1612	1618	N/A	INTRINSIC
low complexity region	1642	1652	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224314

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

98% (51/52)

MGI Phenotype

FUNCTION: This gene encodes a member of the doublecortin family. This protein is a retinal-specific protein. It contains two N-terminal doublecortin domains, which can assemble and stabilize axonemal microtubules, but lacks the C-terminal repetitive regions including the 16aa repeat found in human RP1L1. This protein and the RP1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. [provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit retinal photoreceptor abnormalities, including scattered outer segment disorganization, reduced electroretinogram amplitudes, and progressive retinal rod cell degeneration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	T	C	2: 103,397,528 (GRCm39)	C153R	probably damaging	Het
Adam23	A	G	1: 63,596,650 (GRCm39)		probably null	Het
Adpgk	G	T	9: 59,222,136 (GRCm39)	M354I	probably benign	Het
Atmin	G	T	8: 117,681,653 (GRCm39)		probably null	Het
C1rl	G	A	6: 124,486,069 (GRCm39)	G480D	probably benign	Het
C4b	G	A	17: 34,955,032 (GRCm39)		probably benign	Het
Cacnb1	G	A	11: 97,903,672 (GRCm39)	T127I	possibly damaging	Het
Cmya5	A	T	13: 93,230,210 (GRCm39)	V1626E	probably benign	Het
Cndp2	C	T	18: 84,686,694 (GRCm39)	G443S	probably damaging	Het
Crb1	A	G	1: 139,265,016 (GRCm39)	I134T	possibly damaging	Het
Dnaaf3	T	C	7: 4,535,276 (GRCm39)		probably null	Het
Enam	C	T	5: 88,651,008 (GRCm39)	P764L	probably benign	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Fbln1	G	A	15: 85,111,341 (GRCm39)		probably null	Het
Flnb	A	G	14: 7,945,950 (GRCm38)	I2452V	possibly damaging	Het
Fmo3	A	T	1: 162,781,884 (GRCm39)	W490R	probably damaging	Het
Gabrb1	C	T	5: 72,026,916 (GRCm39)	R106*	probably null	Het
Galnt4	C	T	10: 98,944,923 (GRCm39)	T216I	probably damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Golph3	A	G	15: 12,349,649 (GRCm39)	D223G	probably benign	Het
Herc4	T	A	10: 63,151,473 (GRCm39)	F905I	possibly damaging	Het
Il23r	T	C	6: 67,429,401 (GRCm39)	T314A	probably benign	Het
Lrrtm4	T	C	6: 79,998,857 (GRCm39)	W90R	probably damaging	Het
Maml2	C	T	9: 13,532,541 (GRCm39)	T585I	probably damaging	Het
Mpp3	G	A	11: 101,911,312 (GRCm39)	A170V	probably damaging	Het
Naip6	T	A	13: 100,452,928 (GRCm39)	K44N	possibly damaging	Het
Or10aa3	C	T	1: 173,878,814 (GRCm39)	R292C	probably damaging	Het
Or10ak7	C	T	4: 118,791,230 (GRCm39)	E272K	probably benign	Het
Or1e17	A	G	11: 73,831,182 (GRCm39)	T37A	possibly damaging	Het
Or4k51	C	T	2: 111,585,139 (GRCm39)	P182S	probably damaging	Het
Or51b6	T	A	7: 103,556,267 (GRCm39)	M207K	probably benign	Het
Or6f2	A	G	7: 139,756,878 (GRCm39)	T282A	probably damaging	Het
Or7e165	T	G	9: 19,694,892 (GRCm39)	I154M	probably benign	Het
Or8c10	T	C	9: 38,279,394 (GRCm39)	I174T	probably damaging	Het
Pak1	T	A	7: 97,535,521 (GRCm39)	V204E	probably benign	Het
Pcdhb10	T	A	18: 37,547,190 (GRCm39)	C755*	probably null	Het
Pcdhb20	A	G	18: 37,638,725 (GRCm39)	Y417C	probably damaging	Het
Pkd1l3	G	T	8: 110,355,341 (GRCm39)	W723L	probably benign	Het
Plin1	C	T	7: 79,376,139 (GRCm39)		probably null	Het
Polr3a	A	T	14: 24,525,960 (GRCm39)		probably null	Het
Ranbp2	A	T	10: 58,314,758 (GRCm39)	K1826I	possibly damaging	Het
Rapgef1	A	G	2: 29,626,608 (GRCm39)	I970V	possibly damaging	Het
Rdx	C	A	9: 51,980,173 (GRCm39)	F255L	probably damaging	Het
Serpina6	T	C	12: 103,614,868 (GRCm39)	D326G	probably benign	Het
Sh3tc2	A	G	18: 62,123,966 (GRCm39)	E909G	probably benign	Het
Shprh	T	A	10: 11,047,697 (GRCm39)	V1015D	probably damaging	Het
Slfn8	A	T	11: 82,894,920 (GRCm39)	Y629N	probably damaging	Het
Triml1	A	G	8: 43,594,408 (GRCm39)	S8P	probably damaging	Het

Other mutations in Rp1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00494:Rp1l1	APN	14	64,266,174 (GRCm39)	missense	probably benign	0.01
IGL02063:Rp1l1	APN	14	64,266,985 (GRCm39)	missense	probably damaging	0.99
IGL02132:Rp1l1	APN	14	64,266,259 (GRCm39)	missense	probably benign
IGL02430:Rp1l1	APN	14	64,266,735 (GRCm39)	missense	probably benign	0.00
IGL02977:Rp1l1	APN	14	64,265,599 (GRCm39)	missense	probably benign	0.01
IGL03213:Rp1l1	APN	14	64,265,864 (GRCm39)	missense	probably damaging	0.98
IGL03346:Rp1l1	APN	14	64,266,889 (GRCm39)	missense	probably benign
R0085:Rp1l1	UTSW	14	64,259,744 (GRCm39)	missense	probably damaging	0.99
R0347:Rp1l1	UTSW	14	64,268,253 (GRCm39)	nonsense	probably null
R0362:Rp1l1	UTSW	14	64,268,515 (GRCm39)	nonsense	probably null
R0369:Rp1l1	UTSW	14	64,266,837 (GRCm39)	missense	possibly damaging	0.84
R0538:Rp1l1	UTSW	14	64,259,541 (GRCm39)	missense	probably damaging	1.00
R0544:Rp1l1	UTSW	14	64,269,515 (GRCm39)	missense	probably benign	0.00
R0780:Rp1l1	UTSW	14	64,267,800 (GRCm39)	missense	possibly damaging	0.94
R0944:Rp1l1	UTSW	14	64,269,681 (GRCm39)	missense	probably benign	0.05
R1051:Rp1l1	UTSW	14	64,269,984 (GRCm39)	missense	probably damaging	0.99
R1126:Rp1l1	UTSW	14	64,267,918 (GRCm39)	missense	probably damaging	1.00
R1450:Rp1l1	UTSW	14	64,265,599 (GRCm39)	missense	probably benign	0.01
R1483:Rp1l1	UTSW	14	64,266,496 (GRCm39)	missense	possibly damaging	0.76
R1508:Rp1l1	UTSW	14	64,268,341 (GRCm39)	missense	possibly damaging	0.83
R1553:Rp1l1	UTSW	14	64,269,343 (GRCm39)	missense	probably benign	0.00
R1651:Rp1l1	UTSW	14	64,268,442 (GRCm39)	missense	probably damaging	0.97
R1682:Rp1l1	UTSW	14	64,266,417 (GRCm39)	missense	probably damaging	0.98
R1809:Rp1l1	UTSW	14	64,265,415 (GRCm39)	missense	probably benign	0.18
R1885:Rp1l1	UTSW	14	64,265,839 (GRCm39)	missense	probably benign	0.01
R1887:Rp1l1	UTSW	14	64,265,839 (GRCm39)	missense	probably benign	0.01
R1898:Rp1l1	UTSW	14	64,269,039 (GRCm39)	missense	probably benign	0.04
R1924:Rp1l1	UTSW	14	64,268,992 (GRCm39)	missense	probably benign
R1939:Rp1l1	UTSW	14	64,267,042 (GRCm39)	missense	probably benign
R1941:Rp1l1	UTSW	14	64,259,701 (GRCm39)	missense	probably damaging	1.00
R2129:Rp1l1	UTSW	14	64,266,415 (GRCm39)	missense	possibly damaging	0.93
R3894:Rp1l1	UTSW	14	64,266,756 (GRCm39)	missense	probably benign
R3974:Rp1l1	UTSW	14	64,267,758 (GRCm39)	missense	probably damaging	1.00
R3975:Rp1l1	UTSW	14	64,267,758 (GRCm39)	missense	probably damaging	1.00
R3976:Rp1l1	UTSW	14	64,267,758 (GRCm39)	missense	probably damaging	1.00
R4072:Rp1l1	UTSW	14	64,265,581 (GRCm39)	missense	probably damaging	1.00
R4672:Rp1l1	UTSW	14	64,268,719 (GRCm39)	missense	probably damaging	1.00
R4673:Rp1l1	UTSW	14	64,268,719 (GRCm39)	missense	probably damaging	1.00
R4749:Rp1l1	UTSW	14	64,267,249 (GRCm39)	missense	probably damaging	0.99
R4755:Rp1l1	UTSW	14	64,267,519 (GRCm39)	missense	probably benign	0.34
R4877:Rp1l1	UTSW	14	64,263,620 (GRCm39)	missense	probably benign	0.00
R4930:Rp1l1	UTSW	14	64,269,655 (GRCm39)	missense	probably benign
R5039:Rp1l1	UTSW	14	64,268,805 (GRCm39)	missense	probably benign	0.21
R5106:Rp1l1	UTSW	14	64,265,395 (GRCm39)	missense	probably damaging	1.00
R5184:Rp1l1	UTSW	14	64,267,629 (GRCm39)	missense	probably damaging	1.00
R5215:Rp1l1	UTSW	14	64,267,462 (GRCm39)	missense	probably benign	0.01
R5409:Rp1l1	UTSW	14	64,268,070 (GRCm39)	missense	probably benign	0.02
R5575:Rp1l1	UTSW	14	64,268,433 (GRCm39)	missense	probably benign	0.23
R5696:Rp1l1	UTSW	14	64,267,195 (GRCm39)	missense	probably damaging	0.99
R5739:Rp1l1	UTSW	14	64,269,619 (GRCm39)	missense	probably benign	0.01
R5878:Rp1l1	UTSW	14	64,266,355 (GRCm39)	missense	probably benign	0.09
R6133:Rp1l1	UTSW	14	64,267,545 (GRCm39)	missense	probably damaging	1.00
R6134:Rp1l1	UTSW	14	64,267,545 (GRCm39)	missense	probably damaging	1.00
R6135:Rp1l1	UTSW	14	64,267,545 (GRCm39)	missense	probably damaging	1.00
R6428:Rp1l1	UTSW	14	64,269,838 (GRCm39)	missense	possibly damaging	0.92
R6594:Rp1l1	UTSW	14	64,269,126 (GRCm39)	nonsense	probably null
R6736:Rp1l1	UTSW	14	64,267,173 (GRCm39)	missense	possibly damaging	0.93
R6800:Rp1l1	UTSW	14	64,268,599 (GRCm39)	missense	possibly damaging	0.92
R6848:Rp1l1	UTSW	14	64,265,667 (GRCm39)	missense	possibly damaging	0.79
R6878:Rp1l1	UTSW	14	64,269,301 (GRCm39)	missense	probably benign	0.00
R6922:Rp1l1	UTSW	14	64,267,834 (GRCm39)	missense	possibly damaging	0.93
R6980:Rp1l1	UTSW	14	64,266,169 (GRCm39)	missense	probably benign	0.02
R7053:Rp1l1	UTSW	14	64,268,958 (GRCm39)	missense	possibly damaging	0.68
R7151:Rp1l1	UTSW	14	64,266,475 (GRCm39)	missense	possibly damaging	0.73
R7291:Rp1l1	UTSW	14	64,269,747 (GRCm39)	missense	probably benign	0.10
R7335:Rp1l1	UTSW	14	64,269,447 (GRCm39)	missense	probably benign	0.00
R7344:Rp1l1	UTSW	14	64,267,069 (GRCm39)	missense	probably benign	0.00
R7470:Rp1l1	UTSW	14	64,266,015 (GRCm39)	missense	probably benign
R7570:Rp1l1	UTSW	14	64,269,023 (GRCm39)	nonsense	probably null
R7585:Rp1l1	UTSW	14	64,267,588 (GRCm39)	missense	probably damaging	0.96
R7591:Rp1l1	UTSW	14	64,263,558 (GRCm39)	missense	probably damaging	1.00
R7667:Rp1l1	UTSW	14	64,267,252 (GRCm39)	missense	probably benign	0.04
R7862:Rp1l1	UTSW	14	64,265,476 (GRCm39)	missense	probably damaging	1.00
R7935:Rp1l1	UTSW	14	64,268,674 (GRCm39)	missense	probably damaging	0.99
R8256:Rp1l1	UTSW	14	64,265,602 (GRCm39)	missense	probably benign	0.18
R8403:Rp1l1	UTSW	14	64,266,258 (GRCm39)	missense	probably benign	0.21
R8709:Rp1l1	UTSW	14	64,269,295 (GRCm39)	missense	probably damaging	0.98
R8817:Rp1l1	UTSW	14	64,268,085 (GRCm39)	missense	probably benign
R8971:Rp1l1	UTSW	14	64,259,445 (GRCm39)	missense	probably damaging	1.00
R9380:Rp1l1	UTSW	14	64,266,475 (GRCm39)	missense	probably benign	0.29
R9438:Rp1l1	UTSW	14	64,265,574 (GRCm39)	missense	possibly damaging	0.90
R9501:Rp1l1	UTSW	14	64,266,039 (GRCm39)	missense	probably benign	0.00
R9652:Rp1l1	UTSW	14	64,269,714 (GRCm39)	missense	probably damaging	1.00
R9683:Rp1l1	UTSW	14	64,269,126 (GRCm39)	missense	probably damaging	0.97
X0057:Rp1l1	UTSW	14	64,267,489 (GRCm39)	missense	probably benign	0.14
X0063:Rp1l1	UTSW	14	64,266,672 (GRCm39)	missense	probably damaging	0.98
Z1088:Rp1l1	UTSW	14	64,267,827 (GRCm39)	missense	probably benign	0.01
Z1088:Rp1l1	UTSW	14	64,266,207 (GRCm39)	missense	possibly damaging	0.80
Z1176:Rp1l1	UTSW	14	64,266,593 (GRCm39)	missense	probably damaging	1.00
Z1177:Rp1l1	UTSW	14	64,269,746 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCATGACGTATGAGATGGCAG -3'
(R):5'- GCTACTGTGCTAGAGACCTCTG -3'

Sequencing Primer
(F):5'- TATGAGATGGCAGACGAGAACAC -3'
(R):5'- ACTGTGCTAGAGACCTCTGGTAGAC -3'

Posted On

2014-10-30